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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
8 signs/symptoms
Short stature due to partial GHR deficiency
Familial afibrinogenemia

GHR FGA
FGB
FGG


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GHR
(0.63)
FGB



Citations in the biomedical literature:


Short stature due to partial GHR deficiency
GHR
Familial afibrinogenemia
FGA FGB FGG



Short stature due to partial GHR deficiency
Familial afibrinogenemia

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

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Familial afibrinogenemia

Very frequent
- Autosomal recessive inheritance
- Epistaxis / nose bleeding
- Gingivorrhagia / gingival bleeding
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hydrarthrosis / articular / joint effusion
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Spontaneous abortions

Occasional
- Intracranial / cerebral / meningeal hemorrhage


Short stature due to partial GHR deficiency

(no data available)