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Gene: Ap2a2 MGI:101920

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Gene Summary

Name:
adaptor-related protein complex 2, alpha 2 subunit
Synonyms:
alpha-adaptin C,  alpha-C adaptin,  2410074K14Rik,  L25,  Adtab

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
increased circulating HDL cholesterol level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating free fatty acids level Ap2a2tm1b(EUCOMM)Wtsi HET Early adult 1.14×10-07
decreased circulating serum albumin level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating alkaline phosphatase level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating LDL cholesterol level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased mean corpuscular hemoglobin Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 3.40×10-10
preweaning lethality, incomplete penetrance Ap2a2em1(IMPC)Wtsi HOM   Early adult 0.00
increased circulating HDL cholesterol level Ap2a2em1(IMPC)Wtsi HET Early adult 6.40×10-05
increased circulating iron level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 9.06×10-06
increased circulating cholesterol level Ap2a2em1(IMPC)Wtsi HET Early adult 1.43×10-06
increased circulating cholesterol level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
absent pinna reflex Ap2a2tm1b(EUCOMM)Wtsi HOM Early adult 1.26×10-09
increased circulating LDL cholesterol level Ap2a2em1(IMPC)Wtsi HET Early adult 2.80×10-08
decreased circulating fructosamine level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 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 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 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 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 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 Skull Lateral Orientation

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

33 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

32 Images

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Download thumbnail Download
Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

33 Images

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Download thumbnail Download
DSS Histology

Images

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

20 Images

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Eye Morphology

Images Slit Lamp

1 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Ap2a2tm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
HET, Female, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
HET, Female, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
HET, Female, WTSI

View all 165 images

Ap2a2tm1b(EUCOMM)Wtsi
TS20 forebrain, TS20 oral cavity, TS20 mandibular process, TS20 ear, TS20 skin, TS20 brain, TS20 hindbrain, TS20 maxillary process, TS20 tongue, HET, Male, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
TS20 liver, HET, Female, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
TS20 head, HET, Male, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
TS20 chorioallantoic placenta, HET, Female, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
TS20 stomach, HET, Female, WTSI
Ap2a2em1(IMPC)Wtsi
abnormal ventral coat pigmentation, abnormal coat/hair pigmentation, WT, Male, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
HOM, Unsexed, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
corneal opacity, HET, Female, WTSI

Human diseases caused by Ap2a2 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 Ap2a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... OMIM:619868
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Choreoathetosis, Elevated circulating alpha-fetoprotein concentration, Elevated ... ORPHA:64753
Ataxia-Oculomotor Apraxia 4
Dystonia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterol... OMIM:616267
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbuminemia OMIM:613752
Hemochromatosis, Type 5
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... OMIM:615517
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypercholesterolemia, Dystonia, Hypoa... OMIM:208920
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... OMIM:616828
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... OMIM:616050
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly OMIM:612526
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly, Hypoalbumi... OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... OMIM:267700
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Elevate... OMIM:210250
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia ORPHA:75234
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly OMIM:619013
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... OMIM:620121
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly,... ORPHA:507
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... ORPHA:158061
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia OMIM:618805
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... OMIM:308240
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Eosinophilic Gastroenteritis
Anemia, Steatorrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... ORPHA:2070
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased circulating free fatty acid level ORPHA:293964
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta... OMIM:241600
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... ORPHA:247598
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Tremor, Hyperlipi... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... OMIM:603553
Genetic Hyperferritinemia Without Iron Overload
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... ORPHA:254704
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia ORPHA:941
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Hemochromatosis, Type 2B
Anemia, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentrati... OMIM:613313
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Increased serum bile acid con... OMIM:242150
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Aceruloplasminemia
Anemia, Blepharospasm, Aceruloplasminemia, Torticollis, Decreased serum iron, Increased circulati... OMIM:604290
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia OMIM:608104
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hypoproteinemia, Decreas... ORPHA:90362
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... ORPHA:64743
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... ORPHA:540
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Thrombocytopenia, Intention tremor, Normochromic anemia, Hypoalbu... OMIM:254900
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Action tremor, Hypercholesterolemia ORPHA:77296
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Congenital Enterovirus Infection
Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni... ORPHA:292
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Wolcott-Rallison Syndrome
Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Neutrope... ORPHA:1667
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma, Hypertriglyceridemia,... OMIM:277460
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemochromatosis, Type 3
Anemia, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin concentratio... OMIM:604250
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... ORPHA:848
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... OMIM:278000
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma, Hepatosplenomegaly ORPHA:79237
Cog4-Cdg
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin... ORPHA:71212
Juvenile Polyposis Syndrome
Hypokalemia, Anemia, Hypoalbuminemia OMIM:174900
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Avian Influenza
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating... ORPHA:454836
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Laron Syndrome
Hypercholesterolemia ORPHA:633
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Hemochromatosis Type 2
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:79230
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... ORPHA:300298
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hypoalbuminemia OMIM:602579
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron OMIM:231100
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Wilson Disease
Anemia, Hemolytic anemia, Limb dystonia, Decreased circulating ceruloplasmin concentration, Incre... OMIM:277900
Abetalipoproteinemia
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Reticulocytosis, Steatorrhea... ORPHA:14
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Increased circulating chylomicron concentration, Decreas... OMIM:144650
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Tremor, Thrombocytosis, Hypocholesterolemia, Intention tremor, Hypoalbuminemia OMIM:212065
Amoebiasis Due To Entamoeba Histolytica
Anemia, Leukocytosis, Hypoalbuminemia ORPHA:67
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Decreased plasma carnitine, Decreased serum iron, Abnormal circulating selenium concentra... ORPHA:89842
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Thrombocytopenia, Neutropenia, Splenomegaly, Hypoalbuminemia OMIM:617303
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splen... OMIM:251880
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Aicardi-Goutieres Syndrome 9
Anemia, Hemolytic anemia, Hepatosplenomegaly, Dystonia, Hypoalbuminemia OMIM:619487
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ... ORPHA:37042
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Hemochromatosis, Type 4
Anemia, Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:606069
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Hypocalcemia, Elevated circulating creatine kinase con... ORPHA:36234
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... ORPHA:90041
Dysbetalipoproteinemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... ORPHA:412
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:616278
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level OMIM:610768
Al Amyloidosis
Anemia, Howell-Jolly bodies, Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Polycy... OMIM:613280
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Anemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceri... ORPHA:79240
Hepatocellular Carcinoma
Anemia, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypercalcemia, Hyponatremi... ORPHA:88673
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hy... ORPHA:264580
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hyperchole... ORPHA:370
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Alg12-Cdg
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, Hypoalbuminemia ORPHA:79324
Hemochromatosis, Type 2A
Increased serum iron, Splenomegaly, Increased circulating ferritin concentration OMIM:602390
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Splenomegaly, Abnormality of iron homeostasis, Increased mean platelet volume... OMIM:222470
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypercholesterolemia ORPHA:90065
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Aceruloplasminemia
Blepharospasm, Aceruloplasminemia, Decreased circulating ceruloplasmin concentration, Decreased s... ORPHA:48818
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu... OMIM:617156
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elevated hepatic iron concentration, ... ORPHA:231222
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Lysinuric Protein Intolerance
Leukopenia, Anemia, Hyperalaninemia, Hyperglycinemia, Intraalveolar phospholipid accumulation, Hy... ORPHA:470
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Insulin-Resistance Syndrome Type B
Leukopenia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentrati... ORPHA:2298
Immunodeficiency 47
Leukopenia, Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Hype... OMIM:300972
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypoalbuminemia ORPHA:505248
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... OMIM:616959
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia, Steatorrhea, Hepatosplenomegaly, Bone-... ORPHA:275761
Galloway-Mowat Syndrome 1
Dystonia, Hypoalbuminemia OMIM:251300
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Hypoalbuminemia ORPHA:79396
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Juvenile Polyposis Of Infancy
Anemia, Refractory anemia, Hypoalbuminemia ORPHA:79076
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Marburg Hemorrhagic Fever
Leukopenia, Hypokalemia, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase conce... ORPHA:99826
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Hereditary Methemoglobinemia
Methemoglobinemia, Limb dystonia, Athetosis ORPHA:621
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... OMIM:619381
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... ORPHA:231226
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... ORPHA:231214
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Chronic neutropenia, Anemia, Hyperuricemia, Abnormal myeloid leukocyte morp... ORPHA:79259
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hepatosplenomegaly, Histiocytosis, Splenomegaly, Hypoalbuminemia ORPHA:171
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Polycythemia, Dystonia, Act... ORPHA:309854
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein ORPHA:423479
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Splenomegaly, Hypoalbuminemia OMIM:270400
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
African Iron Overload
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:139507
Symptomatic Form Of Hemochromatosis Type 1
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:465508
Lead Poisoning
Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased LDL cholesterol co... ORPHA:330015
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Elevated ci... OMIM:309000
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Hyperaldosteronism, Anemia, Hypophosphatemia, Hypokalemia, Hyponatremia, Hy... ORPHA:534
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... OMIM:619534
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Steatorrhea, Thrombocy... OMIM:260400
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia, Hypoalbuminemia ORPHA:75565
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... ORPHA:447
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia ORPHA:391665
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Thymoma
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeostasis, Lymphopenia, Thrombocyto... ORPHA:84064
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
Pmm2-Cdg
Impaired neutrophil chemotaxis, Reduced thyroxin-binding globulin, Hypoalbuminemia ORPHA:79318

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 Ap2a2

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 Ap2a2.

There are 5 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) Ap2a2tm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Ap2a2em1(IMPC)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ap2a2em2Wtsi Ap2a2tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ap2a2tm1b(EUCOMM)Wtsi Ap2a2tm1b(EUCOMM)Wtsi Ap2a2em1Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Ap2a2tm1b(EUCOMM)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Ap2a2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Ap2a2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ap2a2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ap2a2em1(IMPC)Wtsi Deletion Mice

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