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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
Isolated ATP synthase deficiency
3 OMIM references -
4 associated genes
No signs/symptoms info
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Isolated ATP synthase deficiency

BTK
(UniProt - OMIM)
 ATP5A1
(UniProt - OMIM)
ELF4
(UniProt - OMIM)
 ATP5E
(UniProt - OMIM)
ATPAF1
(UniProt - OMIM)
ATPAF2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BTK
(0.68)
ATP5A1


Citations in the biomedical literature:


Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4
Isolated ATP synthase deficiency
ATP5A1 ATP5E ATPAF1 ATPAF2



Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Isolated ATP synthase deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- Isolated mitochondrial respiratory chain complex V deficiency
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.