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Budd-Chiari syndrome
1 OMIM reference -
2 associated genes
20 signs/symptoms
PROTEIN INTERACTIONS: 1
Hartsfield-Bixler-Demyer syndrome
1 OMIM reference -
1 associated gene
21 signs/symptoms
Budd-Chiari syndrome
Hartsfield-Bixler-Demyer syndrome

F5
(UniProt - OMIM)
 FGFR1
(UniProt - OMIM)
JAK2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
JAK2
(0.63)
FGFR1


Citations in the biomedical literature:


Budd-Chiari syndrome
F5 JAK2
Hartsfield-Bixler-Demyer syndrome
FGFR1



Budd-Chiari syndrome
Hartsfield-Bixler-Demyer syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Holoprosencephaly - ectrodactyly - cleft lip palate
Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic 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: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D006502
External references:
1 OMIM reference -
No MeSH references
Budd-Chiari syndrome
Hartsfield-Bixler-Demyer syndrome

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
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Corpus callosum / septum pellucidum total / partial agenesis
- Craniostenosis / craniosynostosis / sutural synostosis
- Depressed nasal bridge
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Encephalocele / exencephaly
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypertelorism
- Intrauterine growth retardation
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Low set ears / posteriorly rotated ears
- Oligodactyly / ectrodactyly of fingers
- Ptosis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Single nare / abouphalia
- Stillbirth / neonatal death
- Telecanthus / canthal dystopy

Frequent
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Trident hand / split hand / abnormal median ray