Weaver syndrome |
Budd-Chiari syndrome |
EZH2 | F5 | |||
NSD1 | JAK2 |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
EZH2 | (0.52) | JAK2 | |
Citations in the biomedical literature:
Weaver syndrome |
Budd-Chiari syndrome |
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Synonym(s): - Camptodactyly - overgrowth - unusual facies | Synonym(s): (no synonyms) | ||
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease | Classification (Orphanet): - Rare hepatic disease | ||
Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -
| Classification (ICD10): - Diseases of the circulatory system -
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Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant | Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: any age Type of inheritance: multigenic/multifactorial | ||
External references: 1 OMIM reference -
1 MeSH reference: C536687 | External references: 1 OMIM reference - 1 MeSH reference: D006502 | ||
Weaver syndrome |
Budd-Chiari syndrome |
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Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Advanced bone age - Broad forehead - Hypertelorism - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Long / large ear - Loose skin / skin relaxation / excess skin / creases - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Tall stature / gigantism / growth acceleration - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails Frequent - Broad foot - Broad / bifid thumb - Camptodactyly of fingers - Failure to thrive / difficulties for feeding in infancy / growth delay - Fine hair - Inguinal / inguinoscrotal / crural hernia - Large hand - Philtrum deeply grooved - Restricted joint mobility / joint stiffness / ankylosis - Round face Occasional - Autosomal dominant inheritance - Congenital cardiac anomaly / malformation / cardiopathy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hyperextensible joints / articular hyperlaxity - Micropenis / small penis / agenesis - Pes cavus - Scoliosis - Syndactyly of fingers / interdigital palm - Talipes-varus / metatarsal varus - Undescended / ectopic testes / cryptorchidia / unfixed testes - Wide space between 1st-2nd toes | 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 |