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Gene: Gfi1b MGI:1276578

Gene Summary

Name:

growth factor independent 1B

Synonyms:

Gfi-1B

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating serum albumin level	Gfi1b^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.70×10^-05
decreased neutrophil cell number	Gfi1b^{tm1b(EUCOMM)Hmgu}	HET	Early adult	9.65×10^-10
increased lymphocyte cell number	Gfi1b^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.34×10^-07
increased total body fat amount	Gfi1b^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.79×10^-06
prenatal lethality	Gfi1b^{tm1b(EUCOMM)Hmgu}	HOM	E18.5	0.00
preweaning lethality, complete penetrance	Gfi1b^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating bilirubin level	Gfi1b^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.06×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Eye	Wholemount images	heterozygote	50% (1 of 2)
Stomach	Wholemount images	heterozygote	50% (1 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	homozygote	0.0% (0 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	0.0% (0 of 2)
Embryo	N/A	heterozygote	0.0% (0 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	homozygote	Not available
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	0.0% (0 of 2)
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	0.0% (0 of 2)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	homozygote	0.0% (0 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	0.0% (0 of 2)
Head	N/A	heterozygote	0.0% (0 of 2)
Head	N/A	homozygote	50% (1 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	homozygote	0.0% (0 of 2)
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	homozygote	0.0% (0 of 2)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	homozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	50% (1 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	homozygote	0.0% (0 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	0.0% (0 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	homozygote	0.0% (0 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	Not available
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	0.0% (0 of 2)
Tail	N/A	heterozygote	0.0% (0 of 2)
Tail	N/A	homozygote	Not available

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
esophagus	1.66% (7 of 422)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
olfactory lobe	0.33% (2 of 598)
oral epithelium	0.0%
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	1.17% (6 of 511)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Adult LacZ

LacZ Images Wholemount

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

2 Images

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Immunophenotyping

Panel A FCS file(s)

8 Images

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Immunophenotyping

Panel B FCS file(s)

8 Images

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Human diseases caused by Gfi1b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Gfi1b (1 diseases)
Human diseases predicted to be associated with Gfi1b (603 diseases)

The table below shows human diseases associated to Gfi1b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Bleeding Disorder, Platelet-Type, 17		Petechiae, Abnormal bleeding, Bruising susceptibility, Macrothrombocytopenia, Epistaxis, Ecchymos...	OMIM:187900

The table below shows human diseases predicted to be associated to Gfi1b by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Crigler-Najjar Syndrome Type 2	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Splenomegaly, Reticulocytosis	OMIM:179700
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple...	OMIM:237800
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Acute Myelomonocytic Leukemia	Anemia, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia	ORPHA:517
Hb Bart'S Hydrops Fetalis	Polyhydramnios, Anemia, Hydrops fetalis, Congestive heart failure, Pallor, Oligohydramnios, Peric...	ORPHA:163596
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir...	OMIM:601775
Acute Peripheral Arterial Occlusion	Supraventricular tachycardia, Pallor, Myocardial infarction, Abnormality of venous physiology, Le...	ORPHA:90064
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Autoimmune Hemolytic Anemia, Cold Type	Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia, Pallor	ORPHA:228312
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Malaria	Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia	ORPHA:673
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Immunodeficiency 110 With Lymphoproliferation	Neutropenia, Lymphopenia	OMIM:614868
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbiliru...	OMIM:620010
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran...	ORPHA:766
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom...	OMIM:619868
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc...	OMIM:202700
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Pallor, Anisocytosis, Anemia of i...	OMIM:615631
Cholestasis, Progressive Familial Intrahepatic, 11	Increased serum bile acid concentration, Abnormal circulating bilirubin concentration	OMIM:619874
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt...	ORPHA:75564
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of ...	OMIM:300751
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis	OMIM:301083
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop...	OMIM:603552
Rotor Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:3111
Spherocytosis, Type 4	Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:612653
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi...	ORPHA:158057
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Pallor	ORPHA:75563
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Evans Syndrome	Petechiae, Neutropenia in presence of anti-neutropil antibodies, Syncope, Pallor, Autoimmune thro...	ORPHA:1959
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79234
Hemochromatosis, Type 3	Anemia, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin concentratio...	OMIM:604250
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure, Pa...	ORPHA:49827
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Spherocytosis, Type 2	Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop...	OMIM:616689
X-Linked Severe Congenital Neutropenia	Neutropenia, Monocytopenia	ORPHA:86788
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Preeclampsia/Eclampsia 1	Edema, Thrombocytopenia, Hypertension	OMIM:189800
Beta-Thalassemia	Anemia, Skin ulcer, Pallor, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hemoglobin, S...	ORPHA:848
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia, Hyponatremia	OMIM:616949
Analbuminemia	Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr...	OMIM:616000
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Pyruvate Kinase Deficiency Of Red Cells	Erythroid hyperplasia, Reticulocytosis, Pallor, Nonimmune hydrops fetalis, Decreased hemoglobin c...	OMIM:266200
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:615285
Spherocytosis, Type 1	Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:182900
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi...	OMIM:616860
Autoimmune Hemolytic Anemia	Hemolytic anemia, Congestive heart failure, Pallor, Arrhythmia, Abnormal leukocyte morphology, Sp...	ORPHA:98375
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	OMIM:614172
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly	OMIM:185000
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Hypochromia, Splenomegaly	OMIM:615234
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Neutropenia, Absent circulating B cells	OMIM:613501
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome...	OMIM:235700
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Pallor, Increased mean cor...	ORPHA:98870
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio...	OMIM:616278
Elliptocytosis 1	Elliptocytosis, Splenomegaly, Hemolytic anemia, Pallor	OMIM:611804
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ...	OMIM:308240
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Primary Myelofibrosis	Anemia, Petechiae, Purpura, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Pallor, Ecchymosis,...	ORPHA:824
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Pallor, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly	ORPHA:90037
Specific Granule Deficiency 1	Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac...	OMIM:245480
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp...	OMIM:226990
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis	OMIM:268150
Sickle Cell Anemia	Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt...	ORPHA:232
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi...	OMIM:300908
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co...	OMIM:618892
Transcobalamin Deficiency	Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia	ORPHA:859
Glutathione Synthetase Deficiency	Neutropenia, Hemolytic anemia	OMIM:266130
Glycogen Storage Disease Vii	Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi...	OMIM:232800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Sideroblastic anemia, Pallor	OMIM:613561
Mastocytosis, Cutaneous	Telangiectasia macularis eruptiva perstans, Edema, Cutaneous mastocytosis, Erythema	OMIM:154800
Refractory Anemia	Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia...	ORPHA:98826
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Skin ulcer, Pancytopenia, Pallor, Thrombocyto...	ORPHA:507
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Pedal edema, Retinal hemorrhage, Abnormal mean corpuscular volume, Palpit...	ORPHA:86839
Deafness-Lymphedema-Leukemia Syndrome	Lymphedema, Intracranial hemorrhage, Pallor, Abnormal neutrophil count, Leukocytosis, Myeloprolif...	ORPHA:3226
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re...	OMIM:613673
Dehydrated Hereditary Stomatocytosis	Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly...	ORPHA:3202
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa...	ORPHA:35858
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbuminemia	OMIM:613752
Immunodeficiency 43	Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci...	OMIM:241600
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a...	OMIM:159550
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr...	OMIM:605814
Congenital Factor X Deficiency	Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ...	ORPHA:328
Retinitis Pigmentosa 27	Macular edema, Pallor	OMIM:613750
Autoinflammation With Infantile Enterocolitis	Anemia, Reduced natural killer cell count, Pancytopenia, Increased circulating ferritin concentra...	OMIM:616050
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia, Hernia, Hiatus hernia	ORPHA:101009
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Neutropenia, Acute lymphoblastic leukemia	OMIM:610738
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Pallor, Decreased mean corpuscular volume, Hepatosplenomegaly	OMIM:611590
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia	OMIM:229050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Anemia, Hyperuricemia, Neutropenia	OMIM:617056
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase...	OMIM:267700
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra...	ORPHA:158061
Immunodeficiency 27A	Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly, Hypoalbumi...	OMIM:209950
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Edema, Anemia, Hematochezia	ORPHA:329971
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia	ORPHA:2688
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating...	ORPHA:247598
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Polycythemia Vera	Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro...	OMIM:263300
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Neutropenia	OMIM:613502
Relapsing Fever	Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot...	ORPHA:91547
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega...	OMIM:150550
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri...	ORPHA:822
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth...	OMIM:224120
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Pallor, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Slc35A1-Cdg	Cellulitis, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Neutropenia	ORPHA:238459
Hereditary Elliptocytosis	Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia...	ORPHA:288
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Transaldolase Deficiency	Anemia, Hydrops fetalis, Telangiectasia, Premature skin wrinkling, Hepatosplenomegaly, Edema, Thr...	ORPHA:101028
Wolcott-Rallison Syndrome	Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Neutrope...	ORPHA:1667
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Elevated circulating propionylcar...	OMIM:614857
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Leukopenia, T lymphocytopenia, Monocytopenia, Cellulitis, Impaired neutrophil chemotaxis, B lymph...	OMIM:618986
American Trypanosomiasis	Congestive heart failure, Periorbital edema, Pallor, Edema, Arrhythmia, Myocarditis, Splenomegaly...	ORPHA:3386
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Biliary Atresia, Extrahepatic	Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia	OMIM:210500
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Congestive heart failure, Pallor, Autoimmune hemolytic anemia, Tachyc...	ORPHA:90033
Wells Syndrome	Edema, Skin vesicle, Eosinophilia, Vasculitis	ORPHA:901
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia	OMIM:612527
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Increased red ce...	OMIM:194380
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport...	ORPHA:169154
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Pallor	ORPHA:56425
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec...	ORPHA:300298
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis, Pallor	OMIM:616959
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, Increased HbA2 hemoglobin, Skin ulcer, Erythroid hyperplasia, He...	ORPHA:231222
Rh Deficiency Syndrome	Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,...	ORPHA:71275
Hepatoportal Sclerosis	Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi...	ORPHA:64743
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Hyperammonemia, Neutropenia, Anemia	ORPHA:289916
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:269920
Chylomicron Retention Disease	Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia	OMIM:246700
Letterer-Siwe Disease	Anemia, Pallor, Hepatosplenomegaly, Thrombocytopenia, Neutropenia	OMIM:246400
Waldenström Macroglobulinemia	Pedal edema, Retinal hemorrhage, Leukemia, Normocytic anemia, Purpura, Congestive heart failure, ...	ORPHA:33226
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Conjugated hyperbilirubinemia	OMIM:243300
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia	OMIM:598500
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Pallor	ORPHA:90036
Griscelli Syndrome Type 2	Pancytopenia, Hemophagocytosis, Hyperlipidemia, Neutropenia, Splenomegaly	ORPHA:79477
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia	OMIM:616299
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia	OMIM:618849
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:79312
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Erythroid hyperplasia, Pallor, Hypochromic anemia, Mic...	OMIM:600462
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal...	ORPHA:2070
Immune Thrombocytopenia	Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G...	ORPHA:3002
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul...	OMIM:603553
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Cellulitis, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Mono...	ORPHA:486
Hereditary Folate Malabsorption	Megaloblastic anemia, Pancytopenia, Pallor, Eosinophilia, Thrombocytopenia	ORPHA:90045
Whim Syndrome 1	Neutropenia	OMIM:193670
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Acquired Partial Lipodystrophy	Lipoatrophy, Lymphocytosis	ORPHA:79087
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Neutropenia	ORPHA:2643
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Neutropenia	OMIM:251000
Optic Atrophy 1	Pallor	OMIM:165500
Idiopathic Pulmonary Hemosiderosis	Heart murmur, Diffuse alveolar hemorrhage, Pallor, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Refractory Celiac Disease	Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ...	ORPHA:398063
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphati...	ORPHA:98849
Dermatitis, Atopic	Facial erythema, Dry skin, Pallor	OMIM:603165
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin	OMIM:618528
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy...	ORPHA:103910
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Myelofibrosis	Pallor, Purpura, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Congenital Enterovirus Infection	Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni...	ORPHA:292
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Tempi Syndrome	Facial erythema, Telangiectasia, Increased hematocrit, Polycythemia, Intracranial hemorrhage, Tra...	ORPHA:284227
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia, Umbilical hernia	ORPHA:95715
Immunodeficiency By Defective Expression Of Mhc Class Ii	T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Pancytopenia, Autoimmune...	ORPHA:572
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Erythrocytosis, Familial, 1	Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia...	OMIM:133100
Lymphatic Malformation 7	Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural eff...	OMIM:617300
Dominant Beta-Thalassemia	Hypersplenism, Reduced hemoglobin A, Skin ulcer, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:231226
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A...	OMIM:300835
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope...	OMIM:169400
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Amelogenesis imperfecta, Thrombocytopenia, Neutropenia	OMIM:617475
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir...	OMIM:619705
Methylmalonic Aciduria, Cblb Type	Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ...	OMIM:251110
Protoporphyria, Erythropoietic, 1	Edema, Hemolytic anemia, Erythema	OMIM:177000
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Beta-Thalassemia Major	Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c...	ORPHA:231214
Sepsis In Premature Infants	Hypotension, Anemia, Petechiae, Purpura, Pallor, Edema, Tachycardia, Leukocytosis, Thrombocytopen...	ORPHA:90051
Hyperinsulinism Due To Ucp2 Deficiency	Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia	ORPHA:276556
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia, Splenomegaly	OMIM:235555
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Pan...	ORPHA:158048
Hypermanganesemia With Dystonia 1	Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity, Polycy...	OMIM:613280
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi...	ORPHA:331206
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Immunodeficiency 102	Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence...	OMIM:301082
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Plummer-Vinson Syndrome	Hypochromic microcytic anemia, Iron deficiency anemia, Pallor	ORPHA:54028
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia	ORPHA:276575
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Umbilical hernia	ORPHA:95717
Methylmalonic Aciduria, Cbla Type	Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ...	OMIM:251100
Lymphangiectasia, Intestinal	Pedal edema, Stillbirth, Edema, Lymphopenia	OMIM:152800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia	ORPHA:276580
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529799
Autosomal Erythropoietic Protoporphyria	Erythema, Edema, Microcytic anemia	ORPHA:79278
Congenital Bile Acid Synthesis Defect Type 2	Abnormal serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Extram...	ORPHA:79303
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune hemoly...	OMIM:619220
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Hypoalbuminemia	OMIM:618805
Propionic Acidemia	Anemia, Hyperglycinemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Neutropenia	OMIM:606054
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Aggressive Systemic Mastocytosis	Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells...	ORPHA:98850
Pearson Marrow-Pancreas Syndrome	Anemia, Hydrops fetalis, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia...	OMIM:557000
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor	ORPHA:276608
Congenital Analbuminemia	Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, H...	ORPHA:86816
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia	OMIM:619013
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly	OMIM:615387
Dermatitis Herpetiformis	Erythema, Edema, Skin vesicle, Microcytic anemia	ORPHA:1656
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia, Lymphedema	OMIM:223350
Non-Functioning Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:94080
Erythrocytosis, Familial, 8	Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia	OMIM:222800
X-Linked Agammaglobulinemia	Anemia, Cellulitis, Recurrent cutaneous abscess formation, Thrombocytopenia, Hypocalcemia, Neutro...	ORPHA:47
Glycogen Storage Disease Xii	Reduced haptoglobin level, Anemia, Normocytic anemia, Hyperbilirubinemia, Elevated circulating cr...	OMIM:611881
Beta-Ketothiolase Deficiency	Hypotension, Hypertension, Pallor, Edema, Thrombocytosis, Leukocytosis, Dehydration	ORPHA:134
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, ...	OMIM:301078
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop...	ORPHA:540
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Hyperbilirubinemia, Elevated circulating creatine kinase concentration	OMIM:614300
Hyperinsulinism Due To Hnf1A Deficiency	Syncope, Palpitations, Tachycardia, Pallor	ORPHA:324575
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Primary Intestinal Lymphangiectasia	Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hypoproteinemia, Decreas...	ORPHA:90362
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Anemia, Pallor	OMIM:246450
Erythrocytosis, Familial, 5	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617907
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Elevated circulating C-reactive protein concentration, Leukocytosis,...	OMIM:617099
Idiopathic Aplastic Anemia	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:88
Liver Failure, Infantile, Transient	Hyperbilirubinemia, Hypoalbuminemia	OMIM:613070
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased...	OMIM:601859
Methylcobalamin Deficiency Type Cble	Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Macrocytic anemia, Increased mean corpuscul...	ORPHA:2169
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Hyperbilirubinemia, Polycythemia	OMIM:606812
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Panc...	OMIM:277380
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Umbilical hernia	ORPHA:95716
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splen...	OMIM:251880
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve...	OMIM:608203
Erythrocytosis, Familial, 4	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:611783
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Leukopenia, Anemia, Cardiac arrest, Dilated cardiomyopathy, Pallor, Edema, Thrombocy...	ORPHA:20
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Graft Versus Host Disease	Fasciitis, Hyperbilirubinemia, Hepatosplenomegaly, Lipodystrophy, Dupuytren contracture, Hemophag...	ORPHA:39812
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia	OMIM:619752
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Neutropenia, Panniculitis, Hepatosplenomegaly	OMIM:301081
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Diamond-Blackfan Anemia 11	Anemia, Anemia of inadequate production, Neutropenia	OMIM:614900
Cyclic Neutropenia	Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thromb...	ORPHA:2686
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Neutropenia, Macrothrombocytopenia	OMIM:603585
Erythrocytosis, Familial, 6	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617980
Erythrocytosis, Familial, 3	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:609820
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Camptodactyly, Elevated circulating creatinine concentration, Thrombocytopenia, Hypoalbum...	OMIM:608104
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia	OMIM:616267
Cholestasis, Progressive Familial Intrahepatic, 2	Splenomegaly, Conjugated hyperbilirubinemia	OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 5	Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hyperammonemia, Neutropenia	OMIM:618253
Immunodeficiency 14B, Autosomal Recessive	B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis	OMIM:619281
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu...	OMIM:617156
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentratio...	ORPHA:79284
Bile Acid Synthesis Defect, Congenital, 4	Hyperbilirubinemia, Decreased serum bile acid concentration	OMIM:214950
Alg6-Cdg	Decreased LDL cholesterol concentration, Hypoalbuminemia	ORPHA:79320
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619685
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia	OMIM:617575
Felty Syndrome	Anemia, Cellulitis, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lymphocyte morphology	ORPHA:47612
Cholestasis, Progressive Familial Intrahepatic, 1	Splenomegaly, Conjugated hyperbilirubinemia	OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia, Hiatus hernia	OMIM:609727
Idiopathic Hypereosinophilic Syndrome	Supraventricular arrhythmia, Hepatosplenomegaly, Pleural effusion, Eosinophilia, Myeloproliferati...	ORPHA:3260
Osteopetrosis, Autosomal Recessive 5	Anemia, Hyperbilirubinemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcytic anemia, Thro...	OMIM:259720
Pgm3-Cdg	Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop...	ORPHA:443811
Avian Influenza	Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:454836
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele...	OMIM:619662
Congenital Fibrinogen Deficiency	Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Internal hemorrhag...	ORPHA:335
Cystic Echinococcosis	Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Eosinophilia, Abscess	ORPHA:400
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Necrotizing Enterocolitis	Thrombocytopenia, Neutropenia, Leukocytosis, Hyponatremia	ORPHA:391673
Acquired Purpura Fulminans	Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time,...	ORPHA:49566
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia	OMIM:226300
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia, Umbilical hernia	OMIM:614520
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:607765
Neonatal Lupus Erythematosus	Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly	ORPHA:398124
Rhabdoid Tumor	Thrombocytopenia, Internal hemorrhage, Hypertension, Anemia	ORPHA:69077
Ménétrier Disease	Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Flexion contracture, Thrombocytopenia, Neutropenia, Splenomegaly, Hypoalbumin...	OMIM:617303
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop...	OMIM:304790
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Increased serum bile acid con...	OMIM:242150
S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abno...	ORPHA:88618
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Cerebral edema, Pallor	ORPHA:439218
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Nonimmune hydrops f...	ORPHA:124
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Highly elevated creatine kinase, Neutropenia, Microcytic anemia, Elevated circulating creatine ki...	OMIM:251900
Autosomal Agammaglobulinemia	Neutropenia, Cellulitis	ORPHA:33110
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp...	ORPHA:811
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev...	ORPHA:64753
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo...	OMIM:607594
Amoebiasis Due To Entamoeba Histolytica	Anemia, Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia	ORPHA:67
Rheumatic Fever	Pallor, Pericarditis, Epistaxis, Erythema, Arrhythmia, Myocarditis	ORPHA:3099
Bleeding Disorder, Platelet-Type, 17	Petechiae, Abnormal bleeding, Bruising susceptibility, Macrothrombocytopenia, Epistaxis, Ecchymos...	OMIM:187900
Von Hippel-Lindau Disease	Macular edema, Polycythemia, Hypertension, Pallor, Myocardial infarction, Abnormal left ventricul...	ORPHA:892
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Panniculitis, Thrombocytop...	ORPHA:508542
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop...	OMIM:603909
Bacterial Toxic-Shock Syndrome	Cellulitis, Fasciitis, Increased circulating metamyelocyte count, Elevated circulating creatine k...	ORPHA:36234
Acute Promyelocytic Leukemia	Leukopenia, Anemia, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:520
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration	OMIM:614886
Schimke Immuno-Osseous Dysplasia	Anemia, Lymphopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Thrombocytopenia,...	ORPHA:1830
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia, Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia	OMIM:208085
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia, Splenomegaly	OMIM:613812
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulato...	ORPHA:37042
Fanconi Anemia, Complementation Group E	Anemia, Reticulocytopenia, Pancytopenia, Anemic pallor, Thrombocytopenia, Neutropenia, Leukemia	OMIM:600901
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Chédiak-Higashi Syndrome	Splenomegaly, Anemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferrit...	ORPHA:167
Chediak-Higashi Syndrome	Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Impaired neutrophil bactericidal...	OMIM:214500
Abetalipoproteinemia	Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipo...	ORPHA:14
Klippel-Trénaunay Syndrome	Pulmonary embolism, Congestive heart failure, Internal hemorrhage, Gastrointestinal hemorrhage, P...	ORPHA:90308
Caroli Syndrome	Leukopenia, Liver abscess, Hypersplenism, Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Con...	ORPHA:480520
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Hypokalemia, Microangiopathic hemolytic anemia, Reticulocytosis,...	ORPHA:90038
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia, Cellulitis	OMIM:266265
Barth Syndrome	Hypochromic microcytic anemia, Neutropenia, Cyclic neutropenia, Granulocytopenia	OMIM:302060
Wilson Disease	Anemia, Hemolytic anemia, Hyperbilirubinemia, Increased circulating copper concentration, Decreas...	OMIM:277900
Hepatocellular Carcinoma	Anemia, Liver abscess, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hypercalcemia, Thrombocytos...	ORPHA:88673
Wiskott-Aldrich Syndrome	Sudden cardiac death, Hypoplasia of the thymus, Prolonged bleeding time, Hematemesis, Thrombocyto...	ORPHA:906
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni...	OMIM:277400
Poikiloderma With Neutropenia	Leukopenia, Neutropenia, Splenomegaly, Elevated circulating creatine kinase concentration	OMIM:604173
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Knee flexion contracture, Increased total bilirubin, Decreased plasma free carnitine, Elbow flexi...	OMIM:608836
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen...	OMIM:612541
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Fanconi Anemia, Complementation Group A	Anemia, Reticulocytopenia, Pancytopenia, Anemic pallor, Thrombocytopenia, Neutropenia, Leukemia	OMIM:227650
Trichothiodystrophy 3, Photosensitive	Neutropenia, Lymphopenia	OMIM:616395
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia	OMIM:613404
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C-reactive protein conce...	ORPHA:54251
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Citrullinemia Type Ii	Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H...	ORPHA:247585
Transcobalamin Ii Deficiency	Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:275350
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol...	ORPHA:567548
Infection-Related Hemolytic Uremic Syndrome	Pleural empyema, Hemolytic anemia, Hypertension, Pallor, Edema, Hypertensive crisis, Leukocytosis...	ORPHA:544482
Schimke Immunoosseous Dysplasia	Anemia, Abnormal T cell morphology, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:242900
Purine Nucleoside Phosphorylase Deficiency	Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies...	OMIM:613179
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Hemolytic an...	ORPHA:79277
Fanconi Anemia, Complementation Group I	Neutropenia, Pallor	OMIM:609053
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Neutropenia	OMIM:613989
Adenohypophysitis	Orthostatic hypotension, Normochromic anemia, Pallor	ORPHA:95512
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Psoriasis 14, Pustular	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:614204
Pituitary Apoplexy	Hypotension, Hypertension, Normochromic anemia, Pallor	ORPHA:95613
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Immunodeficiency 55	Neutropenia, Absent natural killer cells, Lymphopenia	OMIM:617827
Fusariosis	Brain abscess, Cellulitis, Granuloma, Fasciitis, Lung abscess, Lymphopenia, Panniculitis, Abnorma...	ORPHA:228119
Diamond-Blackfan Anemia 1	Reticulocytopenia, Congestive heart failure, Pallor, Thrombocytosis, Tricuspid stenosis, Thromboc...	OMIM:105650
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom...	OMIM:618278
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:276621
Intrahepatic Cholestasis Of Pregnancy	Hyperbilirubinemia, Increased serum bile acid concentration	ORPHA:69665
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatosplenomegaly, Flexion contracture, Hypoalbuminemia	ORPHA:367
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hyperammonemia, Hyperalaninemia, Neutropenia	OMIM:615471
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Pyruvate Carboxylase Deficiency	Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ...	ORPHA:3008
Caroli Disease	Liver abscess, Abnormal circulating alpha-fetoprotein concentration, Leukocytosis, Splenomegaly, ...	ORPHA:53035
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Hemolytic anemia, Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:608885
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Herpes Simplex Virus Encephalitis	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia	ORPHA:1930
Sheehan Syndrome	Pallor, Palpitations, Orthostatic hypotension, Bradycardia, Dry skin, Normochromic anemia	ORPHA:91355
Dravet Syndrome	Pallor	ORPHA:33069
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia	ORPHA:514
Histiocytoid Cardiomyopathy	Supraventricular tachycardia, Right bundle branch block, Pulmonary edema, Wolff-Parkinson-White s...	ORPHA:137675
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess	OMIM:615816
Panhypophysitis	Orthostatic hypotension, Normochromic anemia, Pallor	ORPHA:95513
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, B lymphocytopenia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hem...	OMIM:614700
Cartilage-Hair Hypoplasia	Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi...	OMIM:250250
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Abs...	OMIM:608233
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Flexion contracture, Neutropenia	OMIM:616271
Aspergillosis	Neutropenia, Eosinophilia	ORPHA:1163
Fanconi Anemia, Complementation Group C	Anemia, Reticulocytopenia, Pancytopenia, Anemic pallor, Thrombocytopenia, Neutropenia, Leukemia	OMIM:227645
Cryptogenic Organizing Pneumonia	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis	ORPHA:1302
Immunodeficiency 92	B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc...	OMIM:619652
Irida Syndrome	Pallor	ORPHA:209981
3-Methylglutaconic Aciduria Type 7	Neutropenia, Infection associated neutropenia	ORPHA:445038
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Elevated circulating C-reactive protein conce...	OMIM:619644
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Flexion contracture, Decreased plasma carnitine, Decreased serum iron, Atypical scarring ...	ORPHA:89842
Non-Functioning Pituitary Adenoma	Hypotension, Anemia of inadequate production, Pallor	ORPHA:91349
Reynolds Syndrome	Hyperbilirubinemia, Splenomegaly, Lymphopenia, Calcinosis	OMIM:613471
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Juvenile Polyposis Syndrome	Hypokalemia, Anemia, Hypoalbuminemia	OMIM:174900
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Umbilical hernia	ORPHA:90673
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Splenomegaly	ORPHA:86843
Lathosterolosis	Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Anisopoikilocytosis, Hepatosp...	OMIM:607330
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Paroxysmal Nocturnal Hemoglobinuria	Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,...	ORPHA:447
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia	OMIM:614887
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Neutrophilia, Elevated circulating C-reactive protein c...	ORPHA:829
Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Pallor	ORPHA:263455
Autoimmune Hepatitis	Increased total bilirubin, Splenomegaly	ORPHA:2137
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Elevated circulating palmitole...	ORPHA:79282
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut...	OMIM:260400
X-Linked Lymphoproliferative Disease	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	ORPHA:2442
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Thrombocytopenia, Hip contracture	ORPHA:464321
Alg12-Cdg	B lymphocytopenia, Camptodactyly, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, Abnormal a...	ORPHA:79324
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612562
Vici Syndrome	Leukopenia, T lymphocytopenia, Lymphopenia, Elevated circulating creatine kinase concentration, D...	OMIM:242840
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Xfe Progeroid Syndrome	Enamel hypoplasia, Corneal scarring, Hypoalbuminemia, Absence of subcutaneous fat	OMIM:610965
Hereditary Cryohydrocytosis With Reduced Stomatin	Stomatocytosis, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Hepatosplenomegaly	ORPHA:168577
Congenital Disorder Of Glycosylation, Type Ia	Flexion contracture, Abnormal subcutaneous fat tissue distribution, Thrombocytosis, Hypocholester...	OMIM:212065
Hereditary Pheochromocytoma-Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:29072
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Incontinentia Pigmenti	Retinal hemorrhage, Pallor, Erythema, Leukocytosis, Eosinophilia	OMIM:308300
Kasabach-Merritt Syndrome	Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop...	ORPHA:2330
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:308230
Leigh Syndrome	Anemia, Hyperalaninemia, Multiple joint contractures, Neutropenia	ORPHA:506
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Conjugated hyperbili...	ORPHA:567983
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Neutropenia, B lymphocytopenia	OMIM:601495
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Yellow Fever	Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi...	ORPHA:99829
Glycogen Storage Disease Ib	Hyperuricemia, Splenomegaly, Hyperlipidemia, Neutropenia	OMIM:232220
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia, Hypoalbuminemia	OMIM:254900
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia	ORPHA:186
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Umbilical hernia, Hypercho...	ORPHA:90674
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos...	ORPHA:911
Leigh Syndrome With Nephrotic Syndrome	Hypoalbuminemia	ORPHA:255249
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Hermansky-Pudlak Syndrome 10	Neutropenia, Splenomegaly	OMIM:617050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Thrombocytopenia, Hyperbilirubinemia, Anemia	ORPHA:163979
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Elevated circulating C-reacti...	OMIM:301074
Bare Lymphocyte Syndrome, Type Ii	Neutropenia	OMIM:209920
Whim Syndrome	Neutropenia, Lymphopenia, Abnormality of neutrophil morphology, Cellulitis	ORPHA:51636
Spondyloenchondrodysplasia With Immune Dysregulation	Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:607944
Liver Disease, Severe Congenital	Leukopenia, Anemia, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Lym...	OMIM:619991
Hellp Syndrome	Hypotension, Hemolytic anemia, Cerebral hemorrhage, Microangiopathic hemolytic anemia, Decreased ...	ORPHA:244242
Aicardi-Goutieres Syndrome 9	Hepatosplenomegaly, Anemia, Hemolytic anemia, Hypoalbuminemia	OMIM:619487
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia, Joint contracture	OMIM:618005
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Anemia, Flexion contracture, Hernia, Hepatosplenomegaly, Thrombocytopenia, Hypoalbumi...	ORPHA:505248
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granuloma, Hyperbilirubinemia	ORPHA:562639
Al Amyloidosis	Anemia, Hypoalbuminemia, Howell-Jolly bodies, Increased circulating NT-proBNP concentration	ORPHA:85443
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia, Umbilical hernia	OMIM:218700
Crimean-Congo Hemorrhagic Fever	Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage...	ORPHA:99827
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated circulating phytanic acid concentration, Increased circulating very long-chain fatty aci...	OMIM:614866
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Lymphopenia, Hypochole...	ORPHA:90363
Rare Circulatory System Disease	Intermittent claudication, Pallor	ORPHA:98028
Trichothiodystrophy	Enamel hypoplasia, Anemia, Increased mean corpuscular hemoglobin concentration, Multiple joint co...	ORPHA:33364
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Sweet Syndrome	Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Elevat...	ORPHA:3243
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cellulitis, Lymphocytosis, Elevated circulating C-reactive protein concentration, Thrombocytopeni...	OMIM:617718
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Rothmund-Thomson Syndrome	Anemia, Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Abnormal dental enamel morphology	ORPHA:2909
Fanconi Anemia, Complementation Group D2	Anemia, Reticulocytopenia, Pancytopenia, Anemic pallor, Thrombocytopenia, Neutropenia, Leukemia	OMIM:227646
Staphylococcal Necrotizing Pneumonia	Leukopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis	ORPHA:36238
Alternating Hemiplegia Of Childhood	Abnormal T-wave, Pallor, Arrhythmia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy	ORPHA:2131
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Anemia, Atrophic scars, Scarring, Hypoalbuminemia	ORPHA:79396
Tay-Sachs Disease	Pallor	OMIM:272800
Autoimmune Lymphoproliferative Syndrome	Increased B cell count, Decreased proportion of CD4-positive helper T cells, Abnormal proportion ...	ORPHA:3261
Marburg Hemorrhagic Fever	Leukopenia, Hypokalemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Lym...	ORPHA:99826
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoalbuminemia	OMIM:618329
Khan-Khan-Katsanis Syndrome	Anemia, Corneal scarring, Lymphopenia, Neutropenia, Joint contracture	OMIM:618460
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia	ORPHA:163956
Pearson Syndrome	Anemia, Hyperalaninemia, Hypokalemia, Hypophosphatemia, Reticulocytosis, Pancytopenia, Hypoplasti...	ORPHA:699
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Increased serum iron, Abnormality of iron homeostasis, Increased mean platele...	OMIM:222470
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Insulin-Resistance Syndrome Type B	Leukopenia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentrati...	ORPHA:2298
Rothmund-Thomson Syndrome Type 1	Anemia, Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Abnormal dental enamel morphology	ORPHA:221008
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Kikuchi-Fujimoto Disease	Leukopenia, Anemia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Thrombo...	ORPHA:50918
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Anemia, Splenomegaly, Pallor	ORPHA:667
Ogden Syndrome	Minimal subcutaneous fat, Hyperbilirubinemia, Polycythemia, Inguinal hernia, Iron deficiency anem...	OMIM:300855
Rajab Interstitial Lung Disease With Brain Calcifications 1	Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Inguinal hernia, Hypocalcemia, Hypoalbumin...	OMIM:613658
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Camptodactyly, Umbilical hernia, Hypoalbuminemia	OMIM:235510
Rothmund-Thomson Syndrome Type 2	Anemia, Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Abnormal dental enamel morphology	ORPHA:221016
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr...	OMIM:615952
Isolated Biliary Atresia	Splenomegaly, Conjugated hyperbilirubinemia	ORPHA:30391
Hemorrhagic Fever-Renal Syndrome	Hypotension, Anemia, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis, Shock, ...	ORPHA:340
Galloway-Mowat Syndrome 3	Camptodactyly, Hiatus hernia, Hypoalbuminemia	OMIM:617729
Degcags Syndrome	Congenital hypoplastic anemia, Leukopenia, Anemia, Hyperbilirubinemia, Abnormal spleen morphology...	OMIM:619488
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Cohen Syndrome	Neutropenia	ORPHA:193
Senior-Boichis Syndrome	Increased total bilirubin, Anemia, Hepatosplenomegaly	ORPHA:84081
Cranioectodermal Dysplasia 2	Inguinal hernia, Hyperbilirubinemia, Polysplenia, Splenomegaly	OMIM:613610
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Abnormality of the spleen, Myeloproliferative disorder	ORPHA:79456
Juvenile Polyposis Of Infancy	Anemia, Hypoalbuminemia, Refractory anemia, Subcutaneous lipoma	ORPHA:79076
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Agammaglobulinemia, X-Linked	Anemia, Neutropenia, T lymphocytopenia, B lymphocytopenia	OMIM:300755
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Abscess	OMIM:612852
Hardikar Syndrome	Hypersplenism, Hyperbilirubinemia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Umbilical ...	OMIM:301068
Cartilage-Hair Hypoplasia	Hypocalcemia, Neutropenia, Anemia	ORPHA:175
Galloway-Mowat Syndrome 1	Hiatus hernia, Camptodactyly, Joint contracture of the hand, Hypoalbuminemia	OMIM:251300
Immunodeficiency 82 With Systemic Inflammation	Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Decreased propor...	OMIM:619381
Fructose Intolerance, Hereditary	Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia	OMIM:229600
Selective Igm Deficiency	Cellulitis, Neutropenia in presence of anti-neutropil antibodies, Fasciitis, Decreased proportion...	ORPHA:331235
Tsh-Secreting Pituitary Adenoma	Hypotension, Pericardial effusion, Ventricular arrhythmia, Supraventricular arrhythmia, Congestiv...	ORPHA:91347
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Anemia, Hyperuricemia, Abnormal myeloid leukocyte morphology, Hyperlipidemia...	ORPHA:79259
Prolactinoma	Hypotension, Pallor	ORPHA:2965
Glycogen Storage Disease Ic	Hyperuricemia, Cyclic neutropenia, Hyperlipidemia	OMIM:232240
Toxic Epidermal Necrolysis	Thrombocytopenia, Neutropenia, Anemia	ORPHA:537
Hermansky-Pudlak Syndrome	Neutropenia, Abnormal dental enamel morphology	ORPHA:79430
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Pediatric-Onset Graves Disease	Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly	ORPHA:525731
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia	OMIM:619475
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Hepatosplenomegaly, Histiocytosis, Splenomegaly, Hypoalbuminemia	ORPHA:171
Goodpasture Syndrome	Anemia, Pulmonary hemorrhage, Pallor	OMIM:233450
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	OMIM:249100
Zygomycosis	Brain abscess, Cellulitis, Fasciitis, Neutropenia, Splenic abscess	ORPHA:73263
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hyperbilirubinemia, Inguinal hernia, Increased circulating ferritin concentration, Hypercholester...	OMIM:619534
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia	ORPHA:139402
Telangiectasia, Hereditary Hemorrhagic, Type 2	Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectase...	OMIM:600376
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Knee flexion contracture, Flexion contracture, Hip contracture, Elbow flexion contracture, Hyperb...	OMIM:210710
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Camptodactyly, Pancytopenia,...	ORPHA:228426
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Inguinal hernia, Camptodactyly, Transient neutropenia, Chronic neutropenia	ORPHA:500095
Esophageal Atresia	Polyhydramnios, Pallor	ORPHA:1199
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Hypertension associated with pheochromocytoma, Palpitations, Pallor	ORPHA:653
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph...	ORPHA:391487
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Transient neutropenia	OMIM:617107
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Smith-Lemli-Opitz Syndrome	Hypocholesterolemia, Elevated 7-dehydrocholesterol, Splenomegaly, Hypoalbuminemia	OMIM:270400
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Congenital Disorder Of Glycosylation, Type Iim	Enamel hypoplasia, Neonatal hyperbilirubinemia	OMIM:300896
Aspartylglucosaminuria	Neutropenia, Hernia, Vacuolated lymphocytes	OMIM:208400
Superficial Siderosis	Subarachnoid hemorrhage, Abnormal bleeding, Internal hemorrhage, Persistent bleeding after trauma	ORPHA:247245
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Atypical scarring of skin, Anemia, Neutropenia	ORPHA:95455
Tropical Endomyocardial Fibrosis	Splenomegaly, Eosinophilia, Hypoalbuminemia	ORPHA:75565
Sponastrime Dysplasia	Neutropenia	ORPHA:93357
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Congenital Total Pulmonary Venous Return Anomaly	Pulmonary arterial hypertension, Pallor, Right ventricular failure, Mitral regurgitation, Low-out...	ORPHA:99125
Pmm2-Cdg	Multiple joint contractures, Abnormal subcutaneous fat tissue distribution, Impaired neutrophil c...	ORPHA:79318
Tuberous Sclerosis Complex	Hypertension, Internal hemorrhage	ORPHA:805
Vascular Ehlers-Danlos Syndrome	Transient ischemic attack, Abnormal bleeding, Hypertension, Internal hemorrhage, Bruising suscept...	ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gfi1b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gfi1b.

No publications found that use IMPC mice or data for Gfi1b.

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MGI Allele	Allele Type	Produced
Gfi1b^{tm26477(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Gfi1b^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Gfi1b^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice
Gfi1b^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Gfi1b^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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Gene: Gfi1b MGI:1276578

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Embryo LacZ

Adult LacZ

X-ray

MicroCT E14.5-E15.5

Immunophenotyping

Immunophenotyping

Human diseases caused by Gfi1b mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data