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1 OMIM reference -
3 associated genes
25 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 associated gene
11 signs/symptoms
Polycythemia vera
Cutaneous mastocytoma

JAK2 KIT
MPL
TET2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
JAK2
(0.85)
KIT



Citations in the biomedical literature:


Polycythemia vera
JAK2 MPL TET2
Cutaneous mastocytoma
KIT



Polycythemia vera
Cutaneous mastocytoma

Synonym(s):
- Acquired primary erythocytosis
- Erythremia
- Osler-Vaquez disease
- PV
- Polycythemia rubra vera
- Vaquez disease

Synonym(s):
- Cutaneous local mastocytoma
- Multiple mastocytoma
- Solitary mastocytoma

Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin disease

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

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

External references:
1 OMIM reference -
1 MeSH reference: D011087
External references:
No OMIM references
1 MeSH reference: D054705


COMMON
SIGNS
- Acute abdominal pain / colic
- Facial pain / cephalalgia / migraine
- Pruritus / itching


Polycythemia vera
Cutaneous mastocytoma

Very frequent
- Acute leukemia
- Angor pectoris / myocardial infarction
- Chronic arterial hypertension
- Dizziness
- Ecchymoses
- Epistaxis / nose bleeding
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Gingivorrhagia / gingival bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Myelodysplastic syndrome
- Splenomegaly
- Tinnitus
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Arterial embolism / thrombosis
- Claudication / pain on mastication / while chewing
- Portal hypertension
- Transient cerebral ischemia / stroke
- Venous thrombosis / phlebitis / thrombophlebitis


Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Macules
- Mastocytosis
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Urticaria
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Thick skin / pachydermia / orange skin

Occasional
- Hot flushes / sensation of cold