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Gene: Ddit3 MGI:109247

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 0.0% (0 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
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
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote Not available
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

145 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Hind Leg and Hip

9 Images

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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
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Gait disturbance, Hepatomegaly, Abnormal adipose tissue mor... ORPHA:2398
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, L... OMIM:612526
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Lipoatr... ORPHA:79084
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoat... OMIM:613877
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Hypercholesterolemia, ... OMIM:615703
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Lymphocytosis, Insulin resistance ORPHA:79087
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous ad... OMIM:604367
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Hy... OMIM:232700
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipodystrophy, Increased intraabdominal fat, Hepatomegaly,... ORPHA:79085
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Failure to thrive... ORPHA:181393
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity ORPHA:140941
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Difficulty walking, Hepatome... OMIM:610717
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Diabetes mellitus, Hyperlipidemia, Abdomina... OMIM:615980
Lipodystrophy, Partial, Acquired, Susceptibility To
Progressive loss of facial adipose tissue, Membranoproliferative glomerulonephritis, Hepatic stea... OMIM:608709
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... ORPHA:435660
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutan... ORPHA:363400
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... OMIM:614480
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hemochromatosis, Type 4
Cirrhosis, Anemia, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly... OMIM:606069
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul... OMIM:615381
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance OMIM:614662
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... OMIM:608600
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Loss of subcutaneo... ORPHA:435651
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Pancreatitis, Insulin resistance, Maternal diabetes, Hepatic steatosis, Diabetes melli... ORPHA:79083
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Adipose tissue loss, Insulin resistance, Hepatic steatosis, Lipodyst... ORPHA:528
Primary Lipodystrophy
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Lipody... ORPHA:90970
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Pancreatitis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Diabetes mellitus... ORPHA:2348
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adi... OMIM:151660
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Gait disturbance, Elevated hepatic transaminase OMIM:618400
Mandibuloacral Dysplasia
Hypercholesterolemia, Hyperinsulinemia, Contractures of the large joints, Increased circulating f... ORPHA:2457
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Failure to thrive, Lethargy, Ketotic hypoglycemia ORPHA:26792
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function, Hypercholesterolemia OMIM:616829
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertriglyceridemia OMIM:615238
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Insulin resistance, Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Decreased proportion of CD4-positive T cells, Hepatic st... OMIM:301045
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Pancytopenia, Hepatic steatosis, Failure to thrive, Hypoglycemia, Hepatomegaly OMIM:617872
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Hypercholesterolemia... OMIM:278000
African Iron Overload
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Hepatocellular carcinoma, Hepa... ORPHA:139507
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Generaliz... ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619386
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619048
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Gout, Hypertriglyceridemia, Glucose intole... OMIM:610947
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Broad-based gait, Hepatic steatosis,... OMIM:618805
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Thrombocytopenia, Pneumo... ORPHA:2298
Seckel Syndrome 10
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... OMIM:617253
Wilson Disease
Cirrhosis, Anemia, Weight loss, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, He... ORPHA:905
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... OMIM:255120
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... ORPHA:293964
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... ORPHA:280365
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Decreased liver function OMIM:617093
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Obesity, Hepatic steatosis, Cholestasis, Hypercholesterolemia,... ORPHA:209902
Carnitine Deficiency, Systemic Primary
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... OMIM:212140
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Increased resting energy expenditure, Glucose intolerance ORPHA:369873
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Elevated hepatic transaminase, Ataxia, Hepatic steatosis, Hypogl... ORPHA:42
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation... OMIM:214150
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... ORPHA:369
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Hepatomegaly, Lethargy, Macrovesicular h... OMIM:600649
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Elevated hepatic transaminase, Insulin resistance, Hepatic... OMIM:613327
Infantile Liver Failure Syndrome 1
Anemia, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Macrocytic anemia, H... OMIM:615438
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Impaired gluconeoge... OMIM:261680
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Lethargy OMIM:201450
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... OMIM:603471
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Periportal fibrosis, Corneal scarring, Scarring, Hepatocellu... ORPHA:101330
Whipple Disease
Anemia, Arthritis, Cachexia, Insulin resistance, Uveitis, Ataxia, Pericarditis, Myositis, Hepatom... ORPHA:3452
Short Syndrome
Small for gestational age, Insulin resistance, Inguinal hernia, Lipodystrophy, Insulin-resistant ... OMIM:269880
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Anemia, Increased body weight, Elevated hepati... ORPHA:264580
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase... OMIM:264470
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular ... ORPHA:370
Immunodeficiency 40
Elevated circulating alanine aminotransferase concentration, Chronic oral candidiasis, T lymphocy... OMIM:616433
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Hepatocellular carcinoma, Hepa... OMIM:256810
Dysbetalipoproteinemia
Obesity, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Gout, Xanthelasma, Hepatomegal... ORPHA:412
Familial Chylomicronemia Syndrome
Recurrent pancreatitis, Decreased body weight, Perianal abscess, Jaundice, Hepatosplenomegaly, He... ORPHA:444490
Ddost-Cdg
Hepatic steatosis, Lipodystrophy, Elevated hepatic transaminase, Failure to thrive ORPHA:300536
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Extramedullary hematopoiesis, Elevated hepatic transaminase, Steatorrh... ORPHA:79303
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Hepatic necrosis, Elevated... ORPHA:71212
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Necrotizing enterocolitis, Nonketotic hypoglycemia,... OMIM:201475
Chylomicron Retention Disease
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Failure to t... ORPHA:71
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... OMIM:613027
Familial Multiple Lipomatosis
Lipodystrophy, Insulin resistance, Increased adipose tissue, Hyperlipidemia ORPHA:199276
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab... ORPHA:189439
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Inability to walk, Ataxia, Hepatic steatosis, Failure to thrive, Decreased liver function ORPHA:70472
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:608594
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Dysdiadochokinesis, Insulin resistance, Gait disturbance, Ataxia, Lymphopenia, Inguinal h... OMIM:616541
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang... ORPHA:69663
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Short Syndrome
Weight loss, Insulin resistance, Lipodystrophy, Inguinal hernia, Diabetes mellitus, Abnormal dent... ORPHA:3163
Lipodystrophy, Familial Partial, Type 7
Gait ataxia, Recurrent pancreatitis, Dysdiadochokinesis, Impaired glucose tolerance, Small for ge... OMIM:606721
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle glycogen content... OMIM:261750
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:269700
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Elevat... OMIM:614582
Bardet-Biedl Syndrome 19
Hepatic steatosis, Obesity OMIM:615996
Alstrom Syndrome
Tubulointerstitial nephritis, Hyperinsulinemia, Chronic active hepatitis, Elevated hepatic transa... OMIM:203800
3-Methylglutaconic Aciduria, Type V
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, No... OMIM:610198
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, T lymphocytopenia, Small for gestational age, Neoplasm of the pancre... ORPHA:2959
Citrullinemia Type Ii
Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ... ORPHA:247585
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Fulminant h... OMIM:231530
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... ORPHA:552
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Increased body weight, Dorsocervical fa... ORPHA:189427
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Truncal obesity ORPHA:73272
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
Neutral Lipid Storage Disease With Ichthyosis
Abnormal granulocyte morphology, Elevated hepatic transaminase, Increased intramyocellular lipid ... ORPHA:98907
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomega... OMIM:212138
Bloom Syndrome
Acute myeloid leukemia, Rhinitis, Abnormal proportion of CD8-positive T cells, Skin rash, Small f... ORPHA:125
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia, Micro... OMIM:619013
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau... ORPHA:567983
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia, Lethargy, Failure to thrive OMIM:210200
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Immunodeficiency 47
Hypercholesterolemia, Leukopenia, Hepatic fibrosis, Elevated circulating alanine aminotransferase... OMIM:300972
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Flexion contracture, Choreoathetosis, Neonatal hypoglycemia, Ataxia, Hepatic steatosi... OMIM:616271
Rotor Syndrome
Intermittent jaundice, Storage in hepatocytes, Jaundice ORPHA:3111
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, Xa... ORPHA:79259
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Diffuse hepatic steatosis, Ele... ORPHA:2137
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... ORPHA:263455
Dpm1-Cdg
Knee flexion contracture, Hepatic fibrosis, Elevated hepatic transaminase, Camptodactyly, Ataxia,... ORPHA:79322
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... ORPHA:541423
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Elevated hepatic transaminase, Hepatic steatosis, Difficulty walking, Hepatomegal... ORPHA:369840
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Polysplenia, Macronodular cirrhosis, Neonata... OMIM:619418
Infantile Liver Failure Syndrome 3
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... OMIM:618641
Bangstad Syndrome
Small for gestational age, Progressive cerebellar ataxia, Pancytopenia, Insulin-resistant diabete... OMIM:210740
Aromatase Deficiency
Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, Hepatic steatosis, Hyperlipidem... ORPHA:91
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Achilles tendon contracture, Steatorrhea, Ataxia, Hepatic steatosis, Diabetes m... OMIM:616263
Werner Syndrome
Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Slender build, Lipoatrophy, Chondro... ORPHA:902
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Weight loss, Jaundice, Nonketotic hypoglycemia, Elevated hepatic transaminase... ORPHA:20
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Anemia, Glycosuria, Diffuse hepatic steatosis, Gait disturbance, Ataxia, Failure to thrive, Hepat... ORPHA:436271
Neutral Lipid Storage Myopathy
Very long chain fatty acid accumulation, Chronic pancreatitis, Elevated hepatic transaminase, Inc... ORPHA:98908
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ci... OMIM:605814
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Flexion contracture, Abnormal subcutaneous fat tissue distribution, Elevated he... OMIM:212065
Monosomy 13Q34
Hepatic steatosis, Obesity, Insulin resistance ORPHA:96168
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
3-Methylglutaconic Aciduria Type 7
Choreoathetosis, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Infecti... ORPHA:445038
Congenital Disorder Of Glycosylation, Type It
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... OMIM:614921
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Chanarin-Dorfman Syndrome
Hepatic steatosis, Ataxia, Hepatomegaly OMIM:275630
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia ORPHA:90154
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Hepatic steatosis, Hepa... ORPHA:228305
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, T... OMIM:611126
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Thr... ORPHA:99901
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Gait imbalance, Insulin resistance, Ataxia, Biliary tract abnormality, Diabetes... OMIM:209900
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Small for gestational age, Hypoglycemia, Postprandial hy... OMIM:262190
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Rhinitis, Anemia, Insulin resistance, Hypoglycemia ORPHA:230
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Diabetic ketoacidosis, Reduced subcutaneous adipose tissue, Insulin r... ORPHA:769
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Anemia, Hemolytic anemia, Weight loss, Chilblains, Elevated hepatic transaminas... OMIM:619487
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615595
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Knee flexion contracture, Elevated circulating alanine aminotransferase concentration, Elbow flex... OMIM:608836
Abetalipoproteinemia
Gait ataxia, Hepatic fibrosis, Cirrhosis, Anemia, Keratoconjunctivitis sicca, Elevated hepatic tr... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Lethargy, Decreased liver function, Hepatomegaly OMIM:614922
Silver-Russell Syndrome
Cachexia, Insulin resistance, Recurrent hypoglycemia, Obesity, Failure to thrive in infancy ORPHA:813
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Tip-toe gait, Diffuse hepatic steatosis, Chronic hepatic failure, Chole... ORPHA:746
Interstitial Lung And Liver Disease
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Hepatic... OMIM:615486
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Anemia, Weight loss, Cachexia, Elevated hepatic transaminase, Macrovesicular hepatic s... ORPHA:298
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Anemia, Glycosuria, Truncal ataxia, Increased intramyocellular lipid droplets, Ataxia, Failure to... OMIM:220110
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, Elevated hepatic transami... OMIM:617156
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Portal fibrosis, Hepatic steatosis, ... OMIM:614300
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis OMIM:231680
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomega... ORPHA:348
Liver Failure, Infantile, Transient
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... OMIM:613070
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Anemia... ORPHA:275761
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Waddling gait ORPHA:52430
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Imp... OMIM:248370
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Inguinal hernia, Failure to thrive, Pancreatitis OMIM:236200
Gitelman Syndrome
Tubulointerstitial nephritis, Diabetic ketoacidosis, Type II diabetes mellitus, Neoplasm of the p... ORPHA:358
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Splenomegaly, Flexion contracture, Anemia, Inability to walk, Nephritis, Recurrent pn... OMIM:617303
Immunodeficiency 87 And Autoimmunity
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Atrophic gastritis,... OMIM:619573
Wilson Disease
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Anemia, ... OMIM:277900
Cimdag Syndrome
Microvesicular hepatic steatosis, Ataxia, Lipodystrophy, Hepatomegaly, Cholelithiasis OMIM:619273
Pearson Syndrome
Hepatic failure, Anemia, Abnormality of the liver, Glycosuria, Small for gestational age, Elevate... ORPHA:699
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Obesity, Arthrogryposis multiplex congenita, Hyperlipidemia ORPHA:254346
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Normochromic microcytic anemia, Elevated hepatic transaminase, ... ORPHA:66634
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Truncal ataxia, Elevated hepatic transaminase, Ataxia, Hepatic steatosis, Diff... OMIM:615356
Leprechaunism
Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subcutaneous adipose tissue,... ORPHA:508
Thalidomide Embryopathy
Chronic rhinitis, Insulin resistance ORPHA:3312
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Microvesicular hepatic steatosis, Periportal fibrosis, Hyperglycemi... OMIM:124000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Insulin resistance, Hyperlipidemia ORPHA:90153
Combined Oxidative Phosphorylation Deficiency 12
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:614924
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive ORPHA:977
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Tubulointerstitial nephritis, Hepatic failure, Hepatic steatosis, Hepat... ORPHA:228308
Bloom Syndrome
Malar rash, Bronchiectasis, Small for gestational age, Type II diabetes mellitus, Hepatic steatos... OMIM:210900
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Lethargy, Hypoglycemia OMIM:228100
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating alanine aminotransferase concentration, Anemia, Increased hepatic echogenici... OMIM:619525
Fructose Intolerance, Hereditary
Cirrhosis, Glycosuria, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Failure to thr... OMIM:229600
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Bile duct proliferation, Decrease... OMIM:618329
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Microvesicular hepatic steatosis, Anemia, Weight loss, Portal fibrosis, Failure... OMIM:619377
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Esophagitis, Insulin resistance, Failure to thrive, Fasting hypoglycemia ORPHA:96182
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Arthritis, Jaun... ORPHA:93111
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Atrophic gastritis, Anemia, Hemolytic anemia, Weight loss, Hepatitis, Skin ras... OMIM:615846
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Choreoathetosis, Elevated hepatic transaminase, Increased intramyocellular l... ORPHA:17
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Anemia, Slender build, Small for gestational age, Elevated hepatic transaminase, Pancy... OMIM:613658
Liver Disease, Severe Congenital
Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic hypoglycemia, E... OMIM:619991
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Microvesicular hepatic steatosis, Inability to walk, S... ORPHA:404454
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reti... OMIM:618278
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Cholestas... ORPHA:247598
D-Bifunctional Protein Deficiency
Very long chain fatty acid accumulation, Elevated hepatic transaminase, Hepatic steatosis, Failur... OMIM:261515
Atypical Werner Syndrome
Hyperinsulinemia, Decreased body weight, Glycosuria, Type II diabetes mellitus, Hepatic steatosis... ORPHA:79474
Steinert Myotonic Dystrophy
Hyperinsulinemia, Falls, Inability to walk, Insulin resistance, Elevated hepatic transaminase, Ga... ORPHA:273
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Mandibuloacral Dysplasia Progeroid Syndrome
Flexion contracture, Glucose intolerance, Elevated hepatic transaminase, Generalized lipodystroph... OMIM:619127
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Thyr... ORPHA:99413
Turner Syndrome
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Thyr... ORPHA:881
Mosaic Monosomy X
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Thyr... ORPHA:99228
Monosomy X
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Thyr... ORPHA:99226
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Ataxi... OMIM:203700
Arima Syndrome
Hepatic fibrosis, Cirrhosis, Anemia, Ataxia, Hepatic steatosis, Hepatomegaly OMIM:243910
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Knee flexion contracture, Cirrhosis, Flexion contracture, Hip contracture, Microvesicular hepatic... OMIM:300868
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Slender build, Truncal ataxia, Reduced subcutaneous adipose tissue, Type... ORPHA:3455
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Osteomyelitis, Tip-toe gait, Falls, Decreased body weight, Jaundice, Elevated hepatic transaminas... OMIM:619475
Hutchinson-Gilford Progeria Syndrome
Shuffling gait, Weight loss, Insulin resistance, Severe failure to thrive, Osteoarthritis, Absenc... ORPHA:740
Ogden Syndrome
Microvesicular hepatic steatosis, Minimal subcutaneous fat, Jaundice, Maternal diabetes, Eczema, ... OMIM:300855
Alström Syndrome
Elevated hepatic transaminase, Recurrent sinusitis, Dorsocervical fat pad, Hepatic steatosis, Hep... ORPHA:64
Smith-Lemli-Opitz Syndrome
Cirrhosis, Eczema, Recurrent otitis media, Hepatic steatosis, Failure to thrive, Hepatomegaly, Ch... OMIM:270400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Truncal ataxia, Small for gestational age, Ataxia, Inguinal her... OMIM:220111
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Knee flexion contracture, Enamel hypoplasia, Atopic dermatitis, Flexion contracture, Hip contract... OMIM:619503
Digeorge Syndrome
Anemia, Femoral hernia, Hypoplasia of the thymus, Recurrent sinusitis, Recurrent otitis media, He... OMIM:188400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Flexion contracture, Abdominal obesity, Leukocytosis OMIM:619321
Pmm2-Cdg
Hepatic fibrosis, Hyperinsulinemia, Aspiration pneumonia, Multiple joint contractures, Abnormal s... ORPHA:79318
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormality of the liver, Gait disturbance, Hepatic steatosis, Failure t... ORPHA:1606
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Hyperlipidemia, Hypercholesterolemia 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.

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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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