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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
25 signs/symptoms
Short stature due to partial GHR deficiency
Polycythemia vera

GHR JAK2
MPL
TET2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GHR
(0.84)
JAK2



Citations in the biomedical literature:


Short stature due to partial GHR deficiency
GHR
Polycythemia vera
JAK2 MPL TET2



Short stature due to partial GHR deficiency
Polycythemia vera

Synonym(s):
- Short stature due to partial growth hormone receptor deficiency

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

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

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

Polycythemia vera

Very frequent
- Acute abdominal pain / colic
- Acute leukemia
- Angor pectoris / myocardial infarction
- Chronic arterial hypertension
- Dizziness
- Ecchymoses
- Epistaxis / nose bleeding
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Facial pain / cephalalgia / migraine
- 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
- Pruritus / itching
- Transient cerebral ischemia / stroke
- Venous thrombosis / phlebitis / thrombophlebitis


Short stature due to partial GHR deficiency

(no data available)