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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Quebec platelet disorder
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

PLAU BTK
ELF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLAU
(0.63)
BTK



Citations in the biomedical literature:


Quebec platelet disorder
PLAU
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4



Quebec platelet disorder
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

Synonym(s):
- Factor V Quebec

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
1 MeSH reference: C536260
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.