Gene Summary

Name:
DNA-damage inducible transcript 3
Synonyms:
CHOP10,  CHOP-10,  chop,  C/EBP homoologous protein 10,  gadd153

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 aspartate transaminase level Ddit3tm1.1(KOMP)Vlcg HOM Early adult 6.10×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 100% (2 of 2)
Duodenum N/A heterozygote 50% (1 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 50% (1 of 2)
Harderian gland N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 100% (2 of 2)
Jejunum 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 Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 50% (1 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain 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 50% (1 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Parotid gland N/A heterozygote 100% (2 of 2)
Penis N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 100% (2 of 2)
Sciatic nerve N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote Not available
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 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote Not available
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
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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.

Adult LacZ

LacZ Images Section

145 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Hind Leg and Hip

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Human diseases caused by Ddit3 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 Ddit3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myxoid/Round Cell Liposarcoma
ORPHA:99967

The table below shows human diseases predicted to be associated to Ddit3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Gait disturbance, Hepatomegaly, Abnormal adipose tissue mor... ORPHA:2398
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi... OMIM:612526
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis, Hypercholesterolemia, ... OMIM:615703
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Acquired Partial Lipodystrophy
Insulin resistance, Lymphocytosis, Lipoatrophy, Hepatic steatosis ORPHA:79087
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss ... ORPHA:280356
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Hepatic st... ORPHA:79085
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity ORPHA:140941
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Large for gestational age, Increased hepatic glycogen content, Nonketot... ORPHA:293964
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hyperlipidemia, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes... OMIM:615980
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Hepatic steatosis, ... ORPHA:363400
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Loss of truncal subcutaneous adipose tissue... OMIM:608709
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus... ORPHA:435660
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Spl... OMIM:614480
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hemochromatosis, Type 4
Glucose intolerance, Hepatic steatosis, Hepatomegaly, Cirrhosis, Osteoarthritis, Anemia, Diabetes... OMIM:606069
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, L... OMIM:615381
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi... OMIM:608600
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Diarrhea 13
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Re... OMIM:620357
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Splenomeg... ORPHA:79083
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of gluteal subcutaneous adipose tiss... ORPHA:435651
Congenital Generalized Lipodystrophy
Insulin resistance, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, ... ORPHA:528
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Los... ORPHA:2348
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Gait disturbance, Hepatic steatosis OMIM:618400
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis ORPHA:26792
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hypercholesterolemia, Hepatic steatosis,... OMIM:616829
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Diabetic ketoacidosis OMIM:615238
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Hypoglycemia, Pancytopenia, Hepatic steatosis, Hepatomegaly OMIM:617872
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Hepatic stea... OMIM:278000
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, L... OMIM:619386
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H... OMIM:619048
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Gout, Hypertriglyceridemia, Impaired glucose tole... OMIM:610947
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Failure to thrive in infancy, Microcytic anemia, Hepatic steatosis, Pancreatiti... OMIM:618805
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Glycosuria, Elevated circulating aspartate aminotransfera... OMIM:617253
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... OMIM:617591
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Increased adipose tissue around the neck, Increased facial adipose tissue, In... ORPHA:280365
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Hypercholesterolemia... ORPHA:209902
Carnitine Deficiency, Systemic Primary
Failure to thrive, Recurrent hypoglycemia, Elevated circulating aspartate aminotransferase concen... OMIM:212140
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... ORPHA:42
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated circulating hepatic transaminase concentration, Difficulty walking, Hepatic steatosis, H... ORPHA:369840
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Lethargy, Hepa... OMIM:600649
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration,... OMIM:613327
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Recurrent pneumonia, Joint contracture of the hand, Failure to thrive, Elbow ... OMIM:214150
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Familial Chylomicronemia Syndrome
Acute pancreatitis, Failure to thrive, Hepatosplenomegaly, Hyperlipidemia, Hepatic steatosis, Dec... ORPHA:444490
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul... OMIM:261680
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Whipple Disease
Insulin resistance, Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Myocarditis, Cachex... ORPHA:3452
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, ... OMIM:256810
Ddost-Cdg
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Li... ORPHA:300536
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Letharg... OMIM:201450
Dysbetalipoproteinemia
Acute pancreatitis, Obesity, Xanthelasma, Gout, Hepatic steatosis, Hypercholesterolemia, Hypertri... ORPHA:412
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Splenomegaly, Hypertriglyceridemia, Anemia, Panniculitis OMIM:618398
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Lethargy, Nonketotic hypoglycemi... OMIM:201475
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Broad-based gait, Lymphopenia, Inguinal hernia, Dysmetria, Gait disturbance, ... OMIM:616541
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Decreased liver function, Inability to walk, Hepatic steatosis, Ataxia ORPHA:70472
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hy... OMIM:608594
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Difficulty walking, Chronic pancreatitis... OMIM:610717
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Dysdiadochokinesis, Failure to thrive, Glucose into... OMIM:606721
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Weight loss, Lipodystroph... ORPHA:3163
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hyperinsulinemia, Type... OMIM:269700
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi... ORPHA:60
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuf... ORPHA:552
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Hepatomegaly, Fle... OMIM:619183
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Normochromic microcytic anemia, Elevated circulating aspartate aminotransferas... OMIM:610198
Citrullinemia Type Ii
Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transaminase concentrat... ORPHA:247585
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Elevated circulating hepatic transaminase concentration, Insulin-resistant diab... ORPHA:2959
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Hypogly... OMIM:231530
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Increased muscle gl... OMIM:261750
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepatosplenomegaly, H... OMIM:619013
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... ORPHA:2088
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Panniculitis, Hemophagocytosis ORPHA:86884
Bloom Syndrome
Insulin resistance, Cheilitis, Pneumonia, Abscess, Decreased proportion of CD4-positive T cells, ... ORPHA:125
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Truncal obesity, Small for gestational age ORPHA:73272
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Hyperaldosteronism, Glucose intolerance, Dorsocervical fat ... ORPHA:189427
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Hepatic steatosis ORPHA:210548
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Letharg... OMIM:212138
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... OMIM:300972
Autoinflammatory Disease, Systemic, X-Linked
Panuveitis, Osteomyelitis, Hepatosplenomegaly, Optic neuritis, Neutropenia, B lymphocytopenia, Pa... OMIM:301081
Fusariosis
Pneumonia, Cellulitis, Granuloma, Brain abscess, Keratitis, Fasciitis, Abnormality of the spleen,... ORPHA:228119
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... ORPHA:2137
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Ataxia, ... OMIM:615688
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Skin rash, Increased proportion of CD4-positive T cel... OMIM:617099
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Hepatomegaly,... ORPHA:79259
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Recurrent pneumonia, Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia, Flexio... OMIM:616271
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis OMIM:615996
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Difficulty walki... ORPHA:98907
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Failur... OMIM:619418
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... ORPHA:79322
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Dysmet... OMIM:616263
Aromatase Deficiency
Insulin resistance, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hepatic steatosis, Hyp... ORPHA:91
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Decreased liver func... OMIM:617093
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Slender build, Type II diabetes mellitus, Lipodystrophy, L... ORPHA:902
Bangstad Syndrome
Pancytopenia, Small for gestational age, Insulin-resistant diabetes mellitus, Progressive cerebel... OMIM:210740
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... ORPHA:263455
Nodular Non-Suppurative Panniculitis
Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis ORPHA:33577
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Leukopen... ORPHA:20
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Difficulty walking, Chronic pancreatitis... ORPHA:98908
Monosomy 13Q34
Insulin resistance, Obesity, Hepatic steatosis ORPHA:96168
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Decreased liver function, Failure to thrive, Hepatomegaly, Gait disturbance, Ataxia, ... ORPHA:436271
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thr... OMIM:212065
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Elevated circulating aspartate amin... OMIM:605814
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Infection associated neutropenia, Hepati... ORPHA:445038
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp... OMIM:614921
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi... OMIM:611126
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... ORPHA:99901
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Ataxia, Obesity, Gait imbalance, Biliary tract abnormality,... OMIM:209900
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemi... ORPHA:228305
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Insulin-... OMIM:203800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia ORPHA:90154
Immunodeficiency 22
Failure to thrive, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia... OMIM:615758
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ... OMIM:615595
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia, Anemia, Rhinitis ORPHA:230
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Fa... OMIM:619487
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Abetalipoproteinemia
Hepatic fibrosis, Broad-based gait, Elevated circulating hepatic transaminase concentration, Fail... ORPHA:14
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate... OMIM:615486
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elbow flexion contracture,... OMIM:608836
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia, Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Anemia... ORPHA:298
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Failure to thrive in infancy, Cholestasis, Hypoketotic hypoglycemia, Chronic hepati... ORPHA:746
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice OMIM:231680
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:275761
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... OMIM:617156
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Failure to thrive, Decreased liver function, Hepatomegaly, Increased intramyocellular... OMIM:220110
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Cholestasis, Hepatic steatosis, Elevated circulating alanine ... OMIM:614300
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Fasting... ORPHA:348
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... OMIM:613070
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Waddling gait ORPHA:52430
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Ataxia, Hepatomegaly OMIM:619273
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Mucopolysaccharidosis-Plus Syndrome
Nephritis, Recurrent pneumonia, Inability to walk, Leukopenia, Splenomegaly, Hepatomegaly, Thromb... OMIM:617303
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating hepatic transaminase concentration, Difficulty walking, Inability to walk, E... OMIM:615356
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Inguinal hernia, Pancreatitis, Failure to thrive OMIM:236200
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Chondrocalcinosis, Failure to thrive, Glucose intol... ORPHA:358
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Necrotizing enterocolitis, Cholestasis, Lymphopenia, Decreas... OMIM:619573
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Obesity, Hyperlipidemia, Hepatic steatosis ORPHA:254346
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Otitis media, Ingui... OMIM:612541
Pearson Syndrome
Ataxia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Glycosuria, Exo... ORPHA:699
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:248370
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Lethargy, Hepatic steatosis, Decreased liver function OMIM:614922
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Normochromic microcytic anemia, Microves... ORPHA:66634
Neutrophilic Dermatosis, Acute Febrile
Anemia, Cystic acne, Panniculitis, Acne inversa OMIM:608068
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperaldosteronism, Hyperinsul... ORPHA:508
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Recurrent otitis media, Flexion contracture of finger, Erythema nodosum, Hepat... OMIM:256040
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:124000
Bloom Syndrome
Bronchiectasis, Malar rash, Type II diabetes mellitus, Hepatic steatosis, Leukemia, Elevated hemo... OMIM:210900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Hypoketotic hypoglycemia, Hyperlipidemia, Hepatic steatosis, Hepatic calcificati... ORPHA:228308
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive ORPHA:977
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Bradykinesia, Cholestasis, Elevated circulating aspartate aminotransferase con... OMIM:614924
Congenital Disorder Of Glycosylation, Type Iiw
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Failure to thr... OMIM:619525
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... OMIM:619377
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Decreas... OMIM:618329
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Failure to thrive, Esophagitis, Fasting hypoglycemia, Small for gestational age ORPHA:96182
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Failure to thrive, Glycosuria, Hypoglyce... OMIM:229600
Wilson Disease
Hepatic failure, Portal fibrosis, Chondrocalcinosis, Glycosuria, Acute hepatic failure, Elevated ... OMIM:277900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Eczematoid dermatitis, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia... ORPHA:508542
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Splenomegaly, Hepatic ... OMIM:615846
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Hepatic... ORPHA:17
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio... ORPHA:93111
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Decreas... OMIM:613658
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating h... ORPHA:110
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echogenicity, He... OMIM:619991
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Di... ORPHA:51
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cholestasi... ORPHA:247598
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, ... OMIM:618278
Coccidioidomycosis
Pneumonia, Atypical scarring of skin, Folliculitis, Granuloma, Abnormality of the spleen, Abnorma... ORPHA:228123
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Splenome... OMIM:261515
Atypical Werner Syndrome
Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Fai... ORPHA:79474
Steinert Myotonic Dystrophy
Insulin resistance, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Fall... ORPHA:273
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol... OMIM:619127
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Micr... OMIM:203700
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99226
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Cirrhosis, Ataxia, Anemia OMIM:243910
Say-Barber-Miller Syndrome
Eczematoid dermatitis, Elbow flexion contracture, Knee flexion contracture, Impaired neutrophil c... ORPHA:3132
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Failure to thrive, Camptodactyly of finger, Recurr... ORPHA:3455
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Large for gestational age, Hip contracture, Microvesicular hepatic ste... OMIM:300868
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Elevated circulating hepatic transaminase concentration, Falls, Failure to thri... OMIM:619475
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Shuffling gait, Absence of subcutaneous fat, Severe failure to thrive, Weight... ORPHA:740
Ogden Syndrome
Polycythemia, Eczematoid dermatitis, Umbilical hernia, Recurrent otitis media, Inguinal hernia, M... OMIM:300855
Alström Syndrome
Hyperinsulinemia, Hepatosplenomegaly, Type II diabetes mellitus, Hepatic steatosis, Cirrhosis, Gl... ORPHA:64
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Atopic dermatitis, Broad-based gait, Falls, Failure to thrive, Tip-toe gait, Arthrogryposis multi... OMIM:619503
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypoglycemia, Hyperglycemia, Inguinal hernia, Dysmetria, Microvesicular hepati... OMIM:220111
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Failure to thrive, Eczematoid dermatitis, Recurrent otitis media, Hypo... OMIM:270400
Digeorge Syndrome
Cholelithiasis, Recurrent pneumonia, Umbilical hernia, Recurrent otitis media, Obesity, Splenomeg... OMIM:188400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Leukocytosis, Hepatic steatosis, Abdominal obesity OMIM:619321
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormality of the spleen, Obesity,... ORPHA:1606
Pmm2-Cdg
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Fa... ORPHA:79318
Intellectual Developmental Disorder, Autosomal Dominant 68
Joint contracture of the 5th finger, Hepatic steatosis OMIM:619934
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Panniculitis, Erysipelas, Cellulitis ORPHA:2526
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Hypercholesterolemia, Hepatic steatosis ORPHA:391665
Myxoid/Round Cell Liposarcoma
ORPHA:99967

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 Ddit3

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 Ddit3.

No publications found that use IMPC mice or data for Ddit3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ddit3tm214450(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Ddit3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ddit3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Ddit3tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Ddit3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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