Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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

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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 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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
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

33 Images

X-ray

XRay Images Skull Lateral Orientation

32 Images

DSS Histology

Images

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

X-ray

XRay Images Forepaw

33 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

32 Images

Anti-nuclear antibody assay

Images

6 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 165 images

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
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype... OMIM:619868
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Anemia OMIM:603278
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... OMIM:616267
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Head tremor, Dystonia, Elevated circulating a... ORPHA:64753
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen... OMIM:615517
Diarrhea 13
Hypoalbuminemia OMIM:620357
Immunodeficiency 115 With Autoinflammation
Anemia, Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, T lymp... OMIM:620632
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Elevated circulating creatine kinase concentration, Dystonia, Hypoalbuminemia, Hyperchole... OMIM:208920
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Eleva... OMIM:616828
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Autoinflammation With Infantile Enterocolitis
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Thrombocytopenia, Sp... OMIM:616050
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholesterolemia OMIM:612526
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Thrombocytosis, Histiocy... OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia OMIM:619013
Immunodeficiency 32B
Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... OMIM:226990
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he... OMIM:210250
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly ORPHA:75234
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Leishmaniasis
Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia,... ORPHA:507
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia OMIM:618805
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... OMIM:308240
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Eosinophilic Gastroenteritis
Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalb... ORPHA:2070
Macrophage Activation Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentra... ORPHA:158061
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Hypoalbuminemia, Thrombocytopeni... OMIM:617021
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Immunodeficiency 43
B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin... OMIM:241600
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Sideroblastic anemia, S... OMIM:615234
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529799
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia OMIM:608104
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Aceruloplasminemia
Anemia, Torticollis, Blepharospasm, Aceruloplasminemia, Decreased circulating iron concentration,... OMIM:604290
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis OMIM:226300
Hemochromatosis, Type 2B
Anemia, Increased circulating iron concentration, Splenomegaly, Elevated transferrin saturation, ... OMIM:613313
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly OMIM:608776
Primary Intestinal Lymphangiectasia
Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Reduced prop... ORPHA:90362
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, Hypoalbuminemia, Hyperspl... ORPHA:64743
Morgagni-Stewart-Morel Syndrome
Action tremor, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased circulating iron concentration ORPHA:446
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ... ORPHA:540
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Intention tremor, Action tremor, Thrombocytopenia, Postural tremor, Hypoalbu... OMIM:254900
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni... ORPHA:292
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia OMIM:617575
Hemochromatosis, Type 3
Anemia, Increased circulating iron concentration, Lymphopenia, Elevated transferrin saturation, I... OMIM:604250
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen... OMIM:616860
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbu... ORPHA:1667
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Dystonia, Hypercholes... OMIM:277460
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Cog4-Cdg
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly ORPHA:263501
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic... ORPHA:848
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Increased LDL... OMIM:278000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly ORPHA:79237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased circulating carnitine concentration, Abnormal circulating acylcarnitine concentration, ... ORPHA:71212
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome... OMIM:238600
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Laron Syndrome
Hypercholesterolemia ORPHA:633
Hjv Or Hamp-Related Hemochromatosis
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:79230
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati... ORPHA:300298
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased circu... OMIM:144650
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Steatorrhea OMIM:602579
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Hemochromatosis, Neonatal
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... OMIM:231100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Decreased circulating carnitine concentration, Decreased circulating iron concentration, ... ORPHA:89842
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Hypotriglyceridemia, Hyperbilirubin... ORPHA:14
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Tremor, Intention tremor, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis OMIM:212065
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Anemia, Leukocytosis ORPHA:67
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega... ORPHA:37042
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Mucopolysaccharidosis-Plus Syndrome
Anemia, Leukopenia, Splenomegaly, Thrombocytopenia, Hypoalbuminemia, Neutropenia OMIM:617303
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Iron deficiency anemia, Increased serum bile acid concentr... OMIM:616278
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-fetoprotein concen... OMIM:251880
Aicardi-Goutieres Syndrome 9
Anemia, Dystonia, Hepatosplenomegaly, Hypoalbuminemia, Hemolytic anemia OMIM:619487
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Hemochromatosis, Type 4
Elevated transferrin saturation, Increased circulating ferritin concentration, Anemia OMIM:606069
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Unconjugated hyperbilirubinemia, Polycythemia, Dys... OMIM:613280
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent... ORPHA:36234
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level OMIM:610768
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Splenomegaly, Conjugated hype... ORPHA:186
Wilson Disease
Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Trem... OMIM:277900
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Al Amyloidosis
Howell-Jolly bodies, Hypoalbuminemia, Anemia, Increased circulating NT-proBNP concentration ORPHA:85443
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... OMIM:600886
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Lymphopenia, Reduce... ORPHA:90363
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Elevated circulating creatine kinase concentration, Splenomegaly, H... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Abnormal erythrocyte enzyme concentration or activity, Elevated cir... ORPHA:264580
Aceruloplasminemia
Hypochromic microcytic anemia, Decreased circulating ceruloplasmin concentration, Decreased circu... ORPHA:48818
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypergalactosemia, Increased mean platelet volume, Increased cir... OMIM:222470
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Alg12-Cdg
B lymphocytopenia, Hyponatremia, Thrombocytopenia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased circulating iron concentration, Splenomegaly OMIM:602390
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Leukocytosis ORPHA:90065
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he... ORPHA:231222
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Leukopenia, Thrombocytopenia, Abno... ORPHA:2298
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia OMIM:620454
Immunodeficiency 47
Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Leukopenia, Sple... OMIM:300972
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat... OMIM:616959
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bon... ORPHA:275761
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Hypoalbuminemia ORPHA:505248
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Dystonia OMIM:251300
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Refractory anemia, Anemia ORPHA:79076
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Marburg Hemorrhagic Fever
Hypokalemia, Neutrophilia in presence of infection, Hyperamylasemia, Abnormal lymphocyte morpholo... ORPHA:99826
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Hereditary Methemoglobinemia
Athetosis, Limb dystonia, Methemoglobinemia ORPHA:621
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia OMIM:250800
Immunodeficiency 82 With Systemic Inflammation
Anemia, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Decreased propo... OMIM:619381
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... ORPHA:231226
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Beta-Thalassemia Major
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me... ORPHA:231214
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Anemia, Hyperuricemia, Chronic neutropenia, Hyperlipidemia, Hy... ORPHA:79259
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Abnormal blood inorganic cation concentration, Abnormal tr... ORPHA:309854
Kawasaki Disease
Hypoalbuminemia, Thrombocytosis, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2331
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:176270
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Primary Sclerosing Cholangitis
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly ORPHA:171
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Sp... OMIM:270400
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Dietary Iron Overload Disease
Elevated transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferri... ORPHA:139507
Lead Poisoning
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles... ORPHA:330015
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hypokalemia, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Hyperaldosteronism, Hyperc... ORPHA:534
Symptomatic Form Of Hfe-Related Hemochromatosis
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:465508
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula... OMIM:309000
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circul... OMIM:619534
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Shwachman-Diamond Syndrome 1
Steatorrhea, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or act... ORPHA:447
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Tropical Endomyocardial Fibrosis
Eosinophilia, Hypoalbuminemia, Splenomegaly ORPHA:75565
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Syndromic Diarrhea
Abnormality of iron homeostasis, Hypoplasia of the thymus, Increased mean platelet volume, Spleno... ORPHA:84064
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Pmm2-Cdg
Hypoalbuminemia, Impaired neutrophil chemotaxis, Reduced thyroxin-binding globulin ORPHA:79318
Alkaptonuria
Hemolytic anemia, Methemoglobinemia ORPHA:56

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