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1 OMIM reference -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
14 signs/symptoms
Myelofibrosis with myeloid metaplasia
Isolated polycystic liver disease

CALR PRKCSH
JAK2 SEC63
MPL
TET2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CALR
(0.49)
PRKCSH



Citations in the biomedical literature:


Myelofibrosis with myeloid metaplasia
CALR JAK2 MPL TET2
Isolated polycystic liver disease
PRKCSH SEC63



Myelofibrosis with myeloid metaplasia
Isolated polycystic liver disease

Synonym(s):
- Agnogenic myeloid metaplasia
- Idiopathic myelofibrosis
- Myelosclerosis with myeloid metaplasia
- Primary myelofibrosis

Synonym(s):
- ADPCLD
- Autosomal dominant polycystic liver disease
- PCLD

Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hepatic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536330

Isolated polycystic liver disease

Very frequent
- Autosomal dominant inheritance
- Hepatomegaly / liver enlargement (excluding storage disease)
- Polycystic liver disease / hepatic cysts

Frequent
- Polycystic kidneys

Occasional
- Acute abdominal pain / colic
- Arterial aneurism (excluding aorta)
- Early death / lethality
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hepatitis / icterus / cholestasis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Structural anomalies of the pancreas
- Structural anomalies of the respiratory system and diaphragm


Myelofibrosis with myeloid metaplasia

(no data available)