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Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Budd-Chiari syndrome
1 OMIM reference -
2 associated genes
20 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Budd-Chiari syndrome

IFNGR1
(UniProt - OMIM)
 F5
(UniProt - OMIM)
JAK2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IFNGR1
(0.86)
JAK2


Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
IFNGR1
Budd-Chiari syndrome
F5 JAK2



Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Budd-Chiari syndrome

Synonym(s):
- MSMD due to complete IFNgammaR1 deficiency
- MSMD due to complete interferon gamma receptor 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare hepatic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
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:
No OMIM references
1 MeSH reference: C535530
External references:
1 OMIM reference -
1 MeSH reference: D006502
Budd-Chiari 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


Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

(no data available)