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Gene: Tent5c MGI:1921895

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Gene Summary

Name:
terminal nucleotidyltransferase 5C
Synonyms:
4930431B09Rik,  Fam46c

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 System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Tent5ctm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased mean corpuscular hemoglobin Tent5ctm1b(KOMP)Wtsi HET   Early adult 2.39×10-07
increased grip strength Tent5ctm1b(KOMP)Wtsi HET Early adult 7.92×10-05

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 50% (1 of 2)
Blood vessel N/A heterozygote 50% (1 of 2)
Bone N/A heterozygote 50% (1 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 50% (1 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote 50% (1 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Ambiguous
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 50% (1 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 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 50% (1 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 50% (1 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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)
blood vessel 0.0%
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)
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%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
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)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 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)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Slit Lamp

2 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Human diseases caused by Tent5c 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tent5c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Anemia of inadequate production, Sideroblastic anemia, Macrocytic ... OMIM:300751
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Hypochromic microcytic anemia, Sideroblastic anemia OMIM:301310
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Atransferrinemia
Hypochromic anemia OMIM:209300
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Thrombocythemia 3
Thrombocytosis OMIM:614521
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Thrombocythemia 2
Thrombocytosis OMIM:601977
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis OMIM:237800
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia OMIM:300752
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... ORPHA:3202
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... OMIM:601859
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Increased circulating IgE level, Hypochromic microcytic anemia, Incre... OMIM:619632
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Microcytic anemia OMIM:618852
Spermatogenic Failure 17
Male infertility OMIM:617214
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... OMIM:617780
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Thrombocytosis, Pancytopenia, Hepatosplenomegaly OMIM:604416
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... OMIM:615550
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... OMIM:609628
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... OMIM:615631
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... ORPHA:98798
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Splenomegaly, Reticulocytosis OMIM:224100
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Tempi Syndrome
Increased hematocrit, Increased circulating IgG level, Polycythemia ORPHA:284227
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Unilateral cryptorchidism, Macrocytic anemia, Increased mean corpusc... OMIM:300946
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... OMIM:618849
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Spermatogenic Failure 2
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia OMIM:108420
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly OMIM:209950
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... OMIM:616084
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Multiflagellar spermatozoa OMIM:620103
Plummer-Vinson Syndrome
Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Beta-Thalassemia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:848
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia OMIM:616176
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... OMIM:300835
Nephronophthisis
Anemia ORPHA:655
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... OMIM:612690
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... ORPHA:824
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Acute Erythroid Leukemia
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity ORPHA:318
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia... OMIM:615234
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Autosomal Erythropoietic Protoporphyria
Microcytic anemia ORPHA:79278
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Combined Oxidative Phosphorylation Deficiency 53
Hypochromic microcytic anemia OMIM:619423
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Blue Rubber Bleb Nevus
Microcytic anemia ORPHA:1059
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... ORPHA:231226
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:615715
Beta-Thalassemia Major
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... ORPHA:231214
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis OMIM:300367
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia OMIM:615703
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Splenomegaly, Congenital hypoplastic anemia ORPHA:77297
Heme Oxygenase 1 Deficiency
Asplenia, Coombs-positive hemolytic anemia, Hemolytic anemia, Thrombocytosis OMIM:614034
Abcd Syndrome
Polycythemia OMIM:600501
Ménétrier Disease
Hypochromic microcytic anemia ORPHA:2494
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation, Menorrhagia OMIM:124900
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Anemia ORPHA:440713
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypochromic microcytic anemia, Anemia OMIM:619147
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Non-ob... ORPHA:399805
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia OMIM:245900
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Barth Syndrome
Hypochromic microcytic anemia, Neutropenia, Cyclic neutropenia, Granulocytopenia OMIM:302060
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenomegaly, Normochromic a... OMIM:235700
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly ORPHA:33574
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia OMIM:612528
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia ORPHA:514
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Erythroid hyperplasia, Hypochromic anemia, Microcytic ... OMIM:600462
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... OMIM:187800
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Ambiguous genitalia, Bifid scrotum, Hypospadias, Male pseudohermaphroditism,... OMIM:250790
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619949
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Normochromic microcytic anemia ORPHA:66634
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Spherocytosis, Type 4
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis OMIM:612653
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia OMIM:618805
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Decreased circulating antibody level, Microcytic anemia, Hepatosplenomegaly OMIM:619750
Dermatitis Herpetiformis
Microcytic anemia ORPHA:1656
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombo... ORPHA:324636
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia OMIM:206100
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Anemia, Thrombocytosis OMIM:226300
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Splenomegaly OMIM:616278
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... ORPHA:98870
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Acatalasemia
Microcytic anemia ORPHA:926
Poems Syndrome
Thrombocytosis, Polycythemia, Erectile dysfunction, Hypogonadism ORPHA:2905
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Decreased female libido, Decreased testicular size, Oligomenorrhea, Azoosper... ORPHA:52901
Osteopetrosis, Autosomal Recessive 5
Anemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcytic anemia, Leukocytosis, Extramedul... OMIM:259720
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Refractory Celiac Disease
Normocytic anemia, Abnormal spleen physiology, Increased proportion of HLA DR+ T cells, Macrocyti... ORPHA:398063
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia OMIM:598500
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia OMIM:613554
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:616950
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Infertility, Thrombocytosis, Macrocytic anemia OMIM:212750
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... OMIM:619652
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio... OMIM:258900
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatosplenomegaly OMIM:619013
Aceruloplasminemia
Hypochromic microcytic anemia, Refractory anemia ORPHA:48818
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Thrombocytosis, Lymphopenia OMIM:615934
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Lead Poisoning
Anemia, Abnormal T cell morphology, Decreased female libido, Infertility, Abnormality of the mens... ORPHA:330015
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185000
Spherocytosis, Type 1
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis OMIM:182900
Anemia, Congenital Dyserythropoietic, Type Iiia
Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia OMIM:105600
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Defective T cell proliferation, Increased circulating IgG level, Thr... OMIM:618213
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hypogonadism, Anisopoikilocytosis, Azoosperm... ORPHA:300298
Wt Limb-Blood Syndrome
Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia OMIM:194350
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia OMIM:613839
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Niemann-Pick Disease, Type A
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Microcytic anemia OMIM:257200
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, Folate-respons... OMIM:601775
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Decreased... OMIM:275350
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:243150
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Srd5A3-Cdg
Microcytic anemia ORPHA:324737
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Diamond-Blackfan Anemia 11
Anemia, Anemia of inadequate production, Neutropenia, Bone marrow hypocellularity OMIM:614900
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Lymphocytosis, Thrombocytosis, Decreased proportion of memory ... OMIM:301074
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia OMIM:612379
Hemochromatosis, Type 2A
Infertility, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Amenorrhea OMIM:602390
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia ORPHA:89937
Von Hippel-Lindau Syndrome
Polycythemia, Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
3-Methylglutaconic Aciduria, Type V
Normochromic microcytic anemia OMIM:610198
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis OMIM:232800
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Hepatosplenomegaly ORPHA:96123
Young Syndrome
Azoospermia OMIM:279000
Livedoid Vasculopathy
Leukocytosis, Anemia, Polycythemia, Pancytopenia ORPHA:542643
Fumarase Deficiency
Polycythemia OMIM:606812
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia OMIM:229050
Klippel-Trénaunay Syndrome
Microcytic anemia ORPHA:90308
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... ORPHA:320391
Cogan Syndrome
Anemia, Thrombocytosis, Leukocytosis ORPHA:1467
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis OMIM:300653
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... ORPHA:35858
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Pyropoikilocytosis, Hereditary
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis OMIM:266140
Spermatogenic Failure 28
Decreased testicular size, Male infertility, Non-obstructive azoospermia OMIM:618086
Congenital Disorder Of Glycosylation, Type Ii
Iron deficiency anemia OMIM:607906
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... ORPHA:71275
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Thrombocytosis, Hypergonadotropic hypogonadism OMIM:212065
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytos... ORPHA:86839
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Thrombocytosis, Leukocytosis ORPHA:20
Interstitial Lung And Liver Disease
Anemia, Thrombocytosis OMIM:615486
Pyruvate Kinase Deficiency Of Red Cells
Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hemolytic ane... OMIM:266200
Spermatogenic Failure 14
Male infertility, Azoospermia, Late spermatogenesis maturation arrest OMIM:615842
Hereditary Amyloidosis With Primary Renal Involvement
Anemia, Primary testicular failure, Hypogonadism, Abnormal testis morphology, Hepatosplenomegaly,... ORPHA:85450
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis ORPHA:134
Infantile Liver Failure Syndrome 1
Anemia, Macrocytic anemia OMIM:615438
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Megaloblastic anemia OMIM:236270
Osteopetrosis, Autosomal Recessive 4
Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis OMIM:611490
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis OMIM:617948
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Hypochromic anemia ORPHA:99147
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Absent microvilli on the s... OMIM:301000
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Infertility, Azoospermia, Primary amenorrhea OMIM:229070
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, ... OMIM:615688
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis ORPHA:54057
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatosplenomegaly ORPHA:99931
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Reticulocytosis, P... ORPHA:288
Pancreatic Colipase Deficiency
Megaloblastic anemia ORPHA:309108
47,Xyy Syndrome
Macroorchidism, Azoospermia, Oligospermia, Hypospadias, Male infertility, Varicocele, Cryptorchid... ORPHA:8
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Thrombocytopenia, Anemia, Macrocytic anemia ORPHA:27
Beta-Thalassemia Intermedia
Hypogonadism, Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence o... ORPHA:231222
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia OMIM:250940
Combined Oxidative Phosphorylation Deficiency 18
Hypersegmentation of neutrophil nuclei, Macrocytic anemia OMIM:615578
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Polysplenia... OMIM:613807
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia ORPHA:2575
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia OMIM:249270
Harderoporphyria
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:618892
Somatostatinoma
Hypochromic microcytic anemia ORPHA:97283
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy... ORPHA:90045
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly OMIM:611590
Hepatocellular Carcinoma
Thrombocytosis, Thrombocytopenia, Polycythemia, Anemia ORPHA:88673
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia OMIM:613561
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Splenomegaly OMIM:612714
Diamond-Blackfan Anemia 1
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... OMIM:105650
Trichohepatoenteric Syndrome 1
Thrombocytosis, Hypospadias, Increased mean platelet volume, Splenomegaly OMIM:222470
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
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... ORPHA:79239
Brucellosis
Leukopenia, Anemia, Hypersplenism, Epididymitis, Thrombocytosis, Leukocytosis, Orchitis, Thromboc... ORPHA:1304
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Sitosterolemia 1
Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... OMIM:210250
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Impotence, Enlarged polycystic ovaries, Decreased female libido, In... ORPHA:91348
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Oligospermia, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:300200
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia ORPHA:2169
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia ORPHA:293967
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord... ORPHA:3260
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia OMIM:618885
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, ... OMIM:127550
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss
Macrocytic anemia OMIM:620071
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... ORPHA:906
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Pancytopenia, Male infertility, Hypergonadotropic hypogonadism, Crypto... OMIM:227650
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Thymoma
Leukemia, Decreased circulating antibody level, Abnormal lymphocyte proliferation, Abnormal lymph... ORPHA:99867
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Splenomegaly ORPHA:309854
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Thrombocytosis, Increased mean platelet volume ORPHA:84064
Leukocyte Adhesion Deficiency Type Ii
Anemia, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Microcytic anemia ORPHA:99843
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Von Hippel-Lindau Disease
Polycythemia, Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Neuroleptic Malignant Syndrome
Thrombocytopenia, Thrombocytosis, Leukocytosis ORPHA:94093
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c OMIM:609812
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Cryptorchidism ORPHA:261250
Eisenmenger Syndrome
Hypochromic microcytic anemia, Increased mean corpuscular volume, Iron deficiency anemia ORPHA:97214
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Impaired platelet aggregati... ORPHA:2968
Hamamy Syndrome
Microcytic anemia, Hypochromic anemia OMIM:611174
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplasia of the ovary,... OMIM:612885
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypogonadism, Azoospermia, Hypoplasia of penis, Cryptorchidism, Hypogonadotropi... ORPHA:251066
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Asplenia OMIM:269200
H Syndrome
Histiocytosis, Microcytic anemia, Hepatosplenomegaly ORPHA:168569
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Increased circ... ORPHA:37042
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil... ORPHA:811
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Reticu... ORPHA:822
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Male infertility, Male pseudohermaphroditis... ORPHA:754
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm OMIM:614874
Wolfram Syndrome 1
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia OMIM:222300
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... ORPHA:90797
Ogden Syndrome
Decreased testicular size, Hydrocele testis, Polycythemia, Cryptorchidism, Iron deficiency anemia... OMIM:300855
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Azoospermia, Male hypo... OMIM:228300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypo... OMIM:614837
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Granulocytopenia, Macrocytic anemia OMIM:606164
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Amenorrhea, Hypogonadism, Oligomenorrhea ORPHA:91351
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Neutropenia, Normochromic anemia OMIM:614857
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Ambiguous genitalia, Anemia, Abnormality of the male genitalia, Hypoplasia of penis, Male pseudoh... ORPHA:847
Pulmonary Arteriovenous Malformation
Iron deficiency anemia ORPHA:2038
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia ORPHA:79096
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Myopathy With Lactic Acidosis, Hereditary
Leukopenia, Anemia, Sideroblastic anemia OMIM:255125
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Hereditary Hemorrhagic Telangiectasia
Microcytic anemia ORPHA:774
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Peutz-Jeghers Syndrome
Iron deficiency anemia OMIM:175200
Thrombotic Thrombocytopenic Purpura, Hereditary
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis OMIM:274150
Immunodeficiency 47
Leukopenia, Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased c... OMIM:300972
Bloom Syndrome
Acute myeloid leukemia, Premature ovarian insufficiency, Abnormal proportion of CD8-positive T ce... ORPHA:125
Diamond-Blackfan Anemia 10
Steroid-responsive anemia, Anemia, Macrocytic anemia, Reticulocytopenia OMIM:613309
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia ORPHA:309031
Triosephosphate Isomerase Deficiency
Hemolytic anemia, Normocytic anemia, Chronic hemolytic anemia, Macrocytic anemia, Splenomegaly, N... OMIM:615512
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia ORPHA:100075
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Micropenis OMIM:614897
Gapo Syndrome
Oligospermia, Dysmenorrhea, Amenorrhea, Hypogonadism ORPHA:2067
Glycogen Storage Disease Xii
Anemia, Normocytic anemia, Nonspherocytic hemolytic anemia, Splenomegaly, Normochromic anemia OMIM:611881
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis OMIM:235400
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Primary amenorrhea, Abnormal vagina morphology, Abnormality ... ORPHA:251510
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Beckwith-Wiedemann Syndrome
Gonadoblastoma, Polycythemia, Splenomegaly, Cryptorchidism ORPHA:116
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Infertility, Oligospermia, Female pseudohermaphroditism,... ORPHA:786
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... OMIM:618278
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating IgA level, Thrombocytopenia, Increase... OMIM:256040
Mevalonic Aciduria
Anemia, Increased circulating IgD level, Hepatosplenomegaly, Normocytic hypoplastic anemia, Leuko... OMIM:610377
Doors Syndrome
Ambiguous genitalia, Thrombocytosis ORPHA:79500
Ileal Neuroendocrine Tumor
Iron deficiency anemia ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia ORPHA:100077
Duodenal Neuroendocrine Tumor
Increased hematocrit, Iron deficiency anemia ORPHA:100076
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec... ORPHA:3261
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Male inferti... ORPHA:99429
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Iron deficiency anemia ORPHA:93315
Cartilage-Hair Hypoplasia
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... OMIM:250250
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Pancytopenia, T... OMIM:557000
Kearns-Sayre Syndrome
Sideroblastic anemia OMIM:530000
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia ORPHA:98673
Congenital Disorder Of Glycosylation, Type Iiw
Anemia, Thrombocytopenia, Splenomegaly, Microcytic anemia OMIM:619525
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... ORPHA:2330
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Asplenia OMIM:244400
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Anemia, Impotence, Hemolytic anemia, Abnormal erythrocyte enzyme level, Erythroid hyp... ORPHA:447
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Iron deficiency anemia ORPHA:261584
Telangiectasia, Hereditary Hemorrhagic, Type 2
Anemia, Polycythemia OMIM:600376
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
Waldenström Macroglobulinemia
Leukemia, Normocytic anemia, Abnormality of neutrophils, Monoclonal immunoglobulin M proteinemia,... ORPHA:33226
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:277380
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Polysplenia, Female infertility, Male infertility ORPHA:244
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Ovotestis, Clito... OMIM:400045
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Clitoral hypoplasia OMIM:614813
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased fertility, Irregular menstruation, Precocious puberty in females, Bifid scrotum, Bilate... ORPHA:90793
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased fertility, Primary amenorrhea, Ambiguous genitalia, Abnormality of female external geni... ORPHA:95699
Autoimmune Polyendocrinopathy Type 4
Leukopenia, Non-caseating epithelioid cell granulomatosis, Decreased circulating antibody level, ... ORPHA:227990
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia OMIM:254900
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... ORPHA:90041
Degcags Syndrome
Leukopenia, Anemia, Abnormal spleen morphology, Pancytopenia, Hepatosplenomegaly, Iron deficiency... OMIM:619488
Telangiectasia, Hereditary Hemorrhagic, Type 1
Anemia, Polycythemia OMIM:187300
Autoimmune Polyendocrinopathy Type 3
Leukopenia, Non-caseating epithelioid cell granulomatosis, Decreased circulating antibody level, ... ORPHA:227982
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia ORPHA:247691
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Ovot... ORPHA:1772
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Megaloblastic anemia ORPHA:79284
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Leukocytosis, Thrombocytopenia ORPHA:90038
Gitelman Syndrome
Iron deficiency anemia ORPHA:358
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia ORPHA:199299
Lesch-Nyhan Syndrome
Megaloblastic anemia OMIM:300322
Non-Functioning Pituitary Adenoma
Anemia of inadequate production ORPHA:91349
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Iron deficiency anemia, Anemia ORPHA:79408
Adenohypophysitis
Normochromic anemia ORPHA:95512
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Female pseudohermaphroditism, Female in... ORPHA:91
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Acanthocytosis, Poikilocytosis OMIM:618947
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Macrocytic anemia OMIM:614294
Coccidioidomycosis
Abnormality of the male genitalia, Eosinophilia, Abnormal sperm morphology, Abnormality of the sp... ORPHA:228123
Panhypophysitis
Normochromic anemia ORPHA:95513
Pituitary Apoplexy
Normochromic anemia ORPHA:95613
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277400
Carney Complex
Leydig cell neoplasia, Macroorchidism, Precocious puberty, Abnormal sperm motility, Testicular ad... ORPHA:1359
Congenital Erythropoietic Porphyria
Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... ORPHA:79277
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia ORPHA:79351
Primary Sjögren Syndrome
Leukopenia, Decreased circulating antibody level, Increased circulating antibody level, Normocyti... ORPHA:289390
Sheehan Syndrome
Normochromic anemia ORPHA:91355
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia ORPHA:49041
Tetrasomy 9P
Oligospermia, Infertility, Micropenis, Cryptorchidism ORPHA:3310
Acute Adrenal Insufficiency
Normocytic anemia ORPHA:95409
Glucagonoma
Acanthocytosis, Normochromic anemia ORPHA:97280
Noonan Syndrome 1
Hypogonadism, Amegakaryocytic thrombocytopenia, Hypospadias, Male infertility, Juvenile myelomono... OMIM:163950
Addison Disease
Normocytic anemia, Thiamine-responsive megaloblastic anemia ORPHA:85138
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Thrombocytopenia, Neutropenia, Megaloblastic anemia ORPHA:79282
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Increased circulating antibody level, Normocytic anemia, Increased circulatin... ORPHA:91500
Vipoma
Normochromic anemia ORPHA:97282
Cystic Fibrosis
Male infertility, Hepatosplenomegaly OMIM:219700
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Leukopenia, Thrombocytopenia, Anemia ORPHA:84
Cystinosis, Nephropathic
Male hypogonadism, Male infertility, Splenomegaly OMIM:219800
Alström Syndrome
Irregular menstruation, Precocious puberty in females, Splenomegaly, Hyoplasia of the Leydig cell... ORPHA:64

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 Tent5c

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 Tent5c.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Tent5ctm1b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Tent5ctm1b(KOMP)Wtsi PMC7338221

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MGI Allele Allele Type Produced
Tent5ctm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Tent5ctm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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