Gene Summary

Name:
adenosine deaminase, RNA-specific
Synonyms:
Adar1p110,  mZaADAR,  ADAR1,  Adar1p150

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
pale yolk sac Adartm1b(EUCOMM)Wtsi HOM E12.5 0.00
decreased circulating glucose level Adartm1b(EUCOMM)Wtsi HET Early adult 1.73×10-05
abnormal placenta size Adartm1b(EUCOMM)Wtsi HOM E12.5 0.00
abnormal embryo size Adartm1b(EUCOMM)Wtsi HOM E12.5 0.00
pallor Adartm1b(EUCOMM)Wtsi HOM E12.5 0.00
preweaning lethality, complete penetrance Adartm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal neural tube closure Adartm1b(EUCOMM)Wtsi HOM E12.5 0.00
preweaning lethality, complete penetrance Adartm1b(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  Section images heterozygote 100% (4 of 4)
Aorta  Section images heterozygote 50% (2 of 4)
Bone  Section images heterozygote 100% (4 of 4)
Brain  Section images heterozygote 100% (4 of 4)
Brainstem  Section images heterozygote 50% (2 of 4)
Cartilage tissue  Section images heterozygote 75% (3 of 4)
Cerebellum  Section images heterozygote 25% (1 of 4)
Cerebral cortex  Section images heterozygote 50% (2 of 4)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 50% (2 of 4)
Heart  Section images heterozygote 100% (4 of 4)
Hippocampus  Section images heterozygote 50% (2 of 4)
Hypothalamus  Section images heterozygote 50% (2 of 4)
Kidney  Section images heterozygote 100% (4 of 4)
Large intestine  Section images heterozygote 100% (4 of 4)
Liver  Section images heterozygote 50% (2 of 4)
Lung  Section images heterozygote 100% (4 of 4)
Lymph node  Section images heterozygote 25% (1 of 4)
Mammary gland  Section images heterozygote 25% (1 of 4)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (2 of 4)
Ovary  Section images heterozygote 25% (1 of 4)
Oviduct  Section images heterozygote 25% (1 of 4)
Pancreas  Section images heterozygote 50% (2 of 4)
Peripheral nervous system  Section images heterozygote 100% (4 of 4)
Peyer's patch  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (2 of 4)
Skin  Section images heterozygote 50% (2 of 4)
Small intestine  Section images heterozygote 100% (4 of 4)
Spinal cord  Section images heterozygote 100% (4 of 4)
Spleen  Section images heterozygote 100% (4 of 4)
Stomach  Section images heterozygote 100% (4 of 4)
Striatum  Section images heterozygote 25% (1 of 4)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (2 of 4)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (4 of 4)
Thyroid gland  Section images heterozygote 75% (3 of 4)
Trachea  Section images heterozygote 100% (4 of 4)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (2 of 4)
Vascular system  Section images heterozygote 100% (2 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 50% (2 of 4)
Esophagus N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 100% (1 of 1)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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%
epididymis Unavailable
esophagus 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%
midbrain 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
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 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%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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 Forepaw

14 Images

Adult LacZ

LacZ Images Section

57 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Sleep Wake

Wake state (bmp file)

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Embryo LacZ

LacZ images wholemount

12 Images

Gross Morphology Embryo E12.5

Images

2 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Eye Morphology

Images Slit Lamp

1 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

9 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Electroretinography

Cone waveform (pdf format)

4 Images

Legacy Phenotype Associated Images

View all 48 images

Human diseases caused by Adar 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation, Hemolytic anemia OMIM:615010
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive ORPHA:225154
Aicardi-Goutières Syndrome
Dry skin ORPHA:51
Dyschromatosis Symmetrica Hereditaria
ORPHA:41
Dyschromatosis Symmetrica Hereditaria
OMIM:127400

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

Disease Similarity of
phenotypes
Matching phenotypes Source
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:610725
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... OMIM:617609
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan... ORPHA:567548
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... ORPHA:54370
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa... OMIM:615244
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis... OMIM:618594
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, ... OMIM:603278
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul... OMIM:256300
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating alanine aminotransferase c... OMIM:613752
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Reni Syndrome
Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr... OMIM:617575
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:618349
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia ORPHA:293964
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva... OMIM:620632
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:618348
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu... OMIM:209950
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El... OMIM:308240
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Lymphangiectasis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hypoalbuminemia, Hep... OMIM:602579
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... ORPHA:507
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ... ORPHA:158061
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me... OMIM:617730
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e... OMIM:619609
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly... OMIM:619013
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc... OMIM:267700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... OMIM:226990
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin... OMIM:251880
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Alg1-Cdg
Decreased liver function, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Renal i... ORPHA:79327
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Peripheral Cone Dystrophy
Pallor OMIM:609021
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Alg6-Cdg
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice ORPHA:79320
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Duplicated collecting system, Eleva... OMIM:617093
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Decreased liver function, Hypertriglyceridemia, Jaundice, Hepatomegaly... ORPHA:540
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Mpi-Cdg
Decreased liver function, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis ORPHA:79319
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Iron deficiency anemia, Elevated circulating hepatic transaminase concent... ORPHA:1667
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop... OMIM:603553
Refractory Celiac Disease
Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi... ORPHA:398063
Breath-Holding Spells
Pallor OMIM:607578
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Glomerular scleros... OMIM:619487
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul... OMIM:617303
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hyp... OMIM:613092
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly, Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminem... OMIM:617729
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:367
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Sideroblastic ane... OMIM:617021
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Thrombocytopenia, Hypoalbuminemia, E... OMIM:608104
Galloway-Mowat Syndrome 9
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis OMIM:619603
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con... OMIM:242150
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom... OMIM:614377
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating homocysteine concen... ORPHA:88618
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... OMIM:619155
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic s... OMIM:254900
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
4-hydroxyphenylacetic aciduria, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase co... OMIM:617156
Immunodeficiency 43
B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin... OMIM:241600
Avian Influenza
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Elevated circulatin... ORPHA:454836
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Hypoproteinemia, Hypoa... OMIM:226300
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hepatic failure, Hyperammonemi... ORPHA:292
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:251300
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Hypospadias, Galactosuria, Hy... OMIM:222470
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Urinary bladder sphincter dysfunction, Elevat... ORPHA:64753
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomerulus OMIM:182690
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Focal segmental glomerulosclerosis, Microscopi... ORPHA:567546
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Wilson Disease
Portal fibrosis, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum copper, H... OMIM:277900
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Generalized Pustular Psoriasis
Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ... ORPHA:247353
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici... ORPHA:37042
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... ORPHA:2070
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... ORPHA:171
Al Amyloidosis
Abnormality of the kidney, Renal interstitial amyloid deposits, Hepatomegaly, Anemia, Increased c... ORPHA:85443
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Optic Atrophy 1
Pallor OMIM:165500
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti... ORPHA:567544
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia... ORPHA:186
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, 3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase ... OMIM:618329
Hemoglobin D Disease
Pallor ORPHA:90039
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Hypocalcemia, Recurrent urinary tract infections, Increased circulating myel... ORPHA:36234
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Aplasia Cutis Congenita
Spinal dysraphism, Skin ulcer, Erythema ORPHA:1114
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... ORPHA:529799
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Rena... OMIM:212065
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Ectopic kidney, Pleural lymphangiectas... OMIM:235510
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... OMIM:613237
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Renal cyst, Focal segmental glomerulosclerosis, Chronic kidney disease, El... OMIM:617056
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pallor ORPHA:163596
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Elevated circulating hepatic transaminase concentration, Anemia, Leukocytosis, Hyp... ORPHA:67
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Decreas... ORPHA:14
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuric... OMIM:174000
Pierson Syndrome
Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Hyperechogenic kidneys, Protein... OMIM:609049
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Thrombocytopenia, Leuko... ORPHA:505248
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Retinitis Pigmentosa 51
Pallor OMIM:613464
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Hypocalcemia, Hyponatremia, Hypomagnesemia, Renal dysplasia, Hypo... OMIM:618183
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Xfe Progeroid Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Proteinuria, Renal insu... OMIM:610965
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Internal hemorrhage, Patent ... ORPHA:90308
Irida Syndrome
Pallor ORPHA:209981
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Biliary cirrhosis, Glycosuria, Nep... ORPHA:2298
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Hypospadias, B lymphocytopenia, Hyponatr... ORPHA:79324
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:619055
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentrat... OMIM:613658
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Hepatic failure, Intracranial h... ORPHA:49566
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:99826
Primary Myelofibrosis
Petechiae, Purpura, Ecchymosis, Pallor ORPHA:824
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Decreased circulating carnitine concentration, Decreased circulating iron concentration, ... ORPHA:89842
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating... OMIM:276700
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating prealbumin concentration, Lymphopenia, Reduced circulating trans... ORPHA:90363
Dravet Syndrome
Pallor ORPHA:33069
Myelofibrosis
Purpura, Pallor OMIM:254450
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Penoscrotal hypospadias, Hypospadias, Unilate... OMIM:270400
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Kawasaki Disease
Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentration, Leukoc... ORPHA:2331
Retinitis Pigmentosa 75
Pallor OMIM:617023
Senior-Loken Syndrome 8
Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo... OMIM:616307
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, S... OMIM:619534
Cold Agglutinin Disease
Pallor ORPHA:56425
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... OMIM:614748
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Elliptocytosis 1
Pallor OMIM:611804
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Abnormal u... ORPHA:335
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Glomerular sclerosis, Pancytopenia, Recurrent myoglobinuria, Elevated circulating creatin... OMIM:607426
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia... OMIM:619381
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor OMIM:609053
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat... OMIM:232220
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Tay-Sachs Disease
Pallor OMIM:272800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Rheumatic Fever
Pallor, Erythema ORPHA:3099
American Trypanosomiasis
Pallor ORPHA:3386
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreati... OMIM:232200
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Rhabdoid Tumor
Neoplasm of the liver, Hypertension, Internal hemorrhage ORPHA:69077
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Refractory anemia, Anemia ORPHA:79076
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ne... ORPHA:93126
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Letterer-Siwe Disease
Pallor OMIM:246400
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation, Hemolytic anemia OMIM:615010
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Increased circulating lactate dehy... ORPHA:99827
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Intrauterine growth retardation, Pallor OMIM:301310
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp... ORPHA:439232
Sepsis In Premature Infants
Petechiae, Purpura, Pallor ORPHA:90051
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Alg3-Cdg
Neural tube defect ORPHA:79321
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Aplasia of the bladder, Elevated circulating creatine kinase concentration,... ORPHA:158684
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Glycogen Storage Disease Ic
Hepatomegaly, Chronic pancreatitis, Decreased glomerular filtration rate, Hematuria, Hyperuricemi... OMIM:232240
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Waldenström Macroglobulinemia
Purpura, Pallor ORPHA:33226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Aregenerative Anemia
Pallor ORPHA:101096
Adenohypophysitis
Pallor ORPHA:95512
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Panhypophysitis
Pallor ORPHA:95513
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Pallor OMIM:277400
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Decreased glomerular filtration rate... OMIM:602522
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Purpura, Petechiae, Vasculitis, Gingival bleeding, Internal h... ORPHA:906
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Melena, Petechiae, Capillar... ORPHA:340
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Pituitary Apoplexy
Pallor ORPHA:95613
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Tropical Endomyocardial Fibrosis
Eosinophilia, Hepatomegaly, Hypoalbuminemia, Splenomegaly ORPHA:75565
Fumarase Deficiency
Pallor OMIM:606812
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Hellp Syndrome
Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Hypotension,... ORPHA:244242
Prolactinoma
Pallor ORPHA:2965
Incontinentia Pigmenti
Pallor, Erythema OMIM:308300
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Pallor, Spina bifida occulta OMIM:105650
Histiocytoid Cardiomyopathy
Hydrocephalus, Pallor ORPHA:137675
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema OMIM:557000
Yellow Fever
Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Jaundice, Reduced left ventricular ej... ORPHA:99829
Neuroblastoma
Anemic pallor ORPHA:635
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor OMIM:227645
Pmm2-Cdg
Abnormal renal tubule morphology, Abnormal liver parenchyma morphology, Elevated circulating hepa... ORPHA:79318
Esophageal Atresia
Pallor ORPHA:1199
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Pallor ORPHA:667
Degcags Syndrome
Intrauterine growth retardation, Pallor OMIM:619488
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Anemic pallor OMIM:227646
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Diamond-Blackfan Anemia
Pallor ORPHA:124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Pallor OMIM:253280
Von Hippel-Lindau Disease
Pallor ORPHA:892
Superficial Siderosis
Persistent bleeding after trauma, Abnormal bleeding, Subarachnoid hemorrhage, Internal hemorrhage ORPHA:247245
Goodpasture Syndrome
Pallor OMIM:233450
Schinzel-Giedion Syndrome
Neural tube defect, Umbilical hernia ORPHA:798
Tuberous Sclerosis Complex
Hepatic cysts, Hypertension, Internal hemorrhage ORPHA:805
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93924
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Hypertension, Transient ischemic attack, Internal hemorrhage, Renovascular hyp... ORPHA:286
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive ORPHA:225154
Aicardi-Goutières Syndrome
Dry skin ORPHA:51
Dyschromatosis Symmetrica Hereditaria
ORPHA:41
Dyschromatosis Symmetrica Hereditaria
OMIM:127400

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 Adar

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 Adar.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ADAR1 averts fatal type I interferon induction by ZBP1. Nature (July 2022) Adartm1b(EUCOMM)Wtsi Adartm1a(EUCOMM)Wtsi PMC9329096
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Adartm1a(EUCOMM)Wtsi