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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 delta-storage pool disease
2 associated genes
No signs/symptoms info
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Isolated delta-storage pool disease

BTK
(UniProt - OMIM)
 FLI1
(UniProt - OMIM)
ELF4
(UniProt - OMIM)
 RUNX1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ELF4
(0.89)
RUNX1


Citations in the biomedical literature:


Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4
Isolated delta-storage pool disease
FLI1 RUNX1



Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Isolated delta-storage pool disease

Synonym(s):
(no synonyms)

Synonym(s):
- Isolated delta-SPD
- Isolated dense-SPD
- Isolated dense-storage pool disease
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:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.