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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
5 associated genes
17 signs/symptoms
MODY syndrome
Essential thrombocythemia

ABCC8 CALR
BLK JAK2
CEL MPL
GCK TET2
HNF1A TP53
HNF4A
INS
KCNJ11
KLF11
NEUROD1
PAX4
PDX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HNF4A
(0.85)
TP53



Citations in the biomedical literature:


MODY syndrome
ABCC8 BLK CEL GCK HNF1A HNF4A
INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1

Essential thrombocythemia
CALR JAK2 MPL TET2 TP53



MODY syndrome
Essential thrombocythemia

Synonym(s):
- Maturity-onset diabetes of the young

Synonym(s):
- ET
- Essential thrombocytosis

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: sporadic

External references:
11 OMIM references -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D013920

Essential thrombocythemia

Very frequent
- Acute ischemic syndrome
- Angor pectoris / myocardial infarction
- Arterial embolism / thrombosis
- Bone marrow anomalies
- Cerebral vascular anomalies
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Platelet disorders / thrombopathies
- Platelets shape anomalies
- Thoracic / chest pain
- Transient amaurosis / acute visual trouble
- Transient cerebral ischemia / stroke
- Venous thrombosis / phlebitis / thrombophlebitis

Frequent
- Splenomegaly

Occasional
- Acute leukemia
- Myelodysplastic syndrome
- Myeloproliferative syndrome / chronic leukemia


MODY syndrome

(no data available)