ODCs

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Budd-Chiari syndrome

1 OMIM reference -
2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1

Autosomal dominant hypohidrotic ectodermal dysplasia

2 OMIM references -
3 associated genes
18 signs/symptoms

Budd-Chiari syndrome

Autosomal dominant hypohidrotic ectodermal dysplasia

F5	(UniProt - OMIM)	EDAR	(UniProt - OMIM)
JAK2	(UniProt - OMIM)	EDARADD	(UniProt - OMIM)
		TRAF6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JAK2	(0.63)	TRAF6

Citations in the biomedical literature:

Budd-Chiari syndrome		Autosomal dominant hypohidrotic ectodermal dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - AD-HED - Autosomal dominant anhidrotic ectodermal dysplasia

	Classification (Orphanet): - Rare hepatic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: any age Type of inheritance: multigenic/multifactorial		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D006502		External references: 2 OMIM references - No MeSH references

Budd-Chiari syndrome		Autosomal dominant hypohidrotic ectodermal dysplasia
	Very frequent - Ascitis - Portal hypertension - Splenomegaly Frequent - Abnormal hepatic enzymes / transaminases - Acute abdominal pain / colic - Cirrhosis - Esophageal varices - Fever / chilling - Hepatocellular liver disease / hepatic failure - Hepatomegaly / liver enlargement (excluding storage disease) Occasional - Acute hepatic failure - Acute ischemic syndrome - Biliary / gallbladder stones / lithiasis / cholecystitis - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hepatitis / icterus / cholestasis - Intestinal obstruction / ileus - Malabsorption / chronic diarrhea / steatorrhea - Mesenteric / intestinal infarction - Peritonitis / peritoneal abscess - Weight loss / loss of appetite / break in weight curve / general health alteration		Very frequent - Anodontia / oligodontia / hypodontia - Anomalies of teeth and dentition - Autosomal dominant inheritance - Decreased body hair / axillar / pubic hairlessness - Dry / squaly skin / exfoliation - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Premature lost of decidious teeth - Thin skin - Tooth shape anomaly Frequent - Abnormal fingernails - Alveolysis / paraodontitis Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Eczema - Flattened nose - Frontal bossing / prominent forehead - Malignant hyperthermia - Thick lips