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Budd-Chiari syndrome
1 OMIM reference -
2 associated genes
20 signs/symptoms
PROTEIN INTERACTIONS: 1
Proximal 16p11.2 microdeletion syndrome
1 OMIM reference -
1 associated gene
31 signs/symptoms
Budd-Chiari syndrome
Proximal 16p11.2 microdeletion syndrome

F5
(UniProt - OMIM)
 SH2B1
(UniProt - OMIM)
JAK2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
JAK2
(0.97)
SH2B1


Citations in the biomedical literature:


Budd-Chiari syndrome
F5 JAK2
Proximal 16p11.2 microdeletion syndrome
SH2B1



Budd-Chiari syndrome
Proximal 16p11.2 microdeletion syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Proximal del(16)(p11.2)
- Proximal monosomy 16p11.2
Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic 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: 1-5 / 10 000
Average age onset: childhood
Average age of death: adult
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
Proximal 16p11.2 microdeletion 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
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Autism / autistic disoders
- Broad forehead
- EEG anomalies
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Atrial septal defect / interauricular communication
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of the optic nerve
- Diaphragmatic hernia / defect / agenesis
- Dilated cerebral ventricles without hydrocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastric / pyloric stenosis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Generalized obesity
- Hyperactivity / attention deficit
- Hypertelorism
- Hypotonia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Myopia
- Psychosis / schizophrenia / maniac disorder
- Scoliosis
- Strabismus / squint
- Syringomelia
- Upper limb polydactyly / hexadactyly
- Vertebral segmentation anomaly / hemivertebrae