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Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant macrothrombocytopenia
3 OMIM references -
4 associated genes
No signs/symptoms info
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Autosomal dominant macrothrombocytopenia

BTK
(UniProt - OMIM)
 ACTN1
(UniProt - OMIM)
ELF4
(UniProt - OMIM)
 ITGA2B
(UniProt - OMIM)
ITGB3
(UniProt - OMIM)
TUBB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BTK
(0.68)
ACTN1


Citations in the biomedical literature:


Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4
Autosomal dominant macrothrombocytopenia
ACTN1 ITGA2B ITGB3 TUBB1



Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Autosomal dominant macrothrombocytopenia

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic 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:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.