Cytoscape Web
Click node...


PROTEIN INTERACTIONS: 1
14 associated genes
No signs/symptoms info
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Leigh syndrome with leukodystrophy

BTK COX10
ELF4 LIPT1
NDUFA10
NDUFA2
NDUFAF6
NDUFS1
NDUFS3
NDUFS4
NDUFS7
NDUFS8
NDUFV1
SDHA
SLC19A3
SURF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BTK
(0.68)
NDUFS1



Citations in the biomedical literature:


Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4
Leigh syndrome with leukodystrophy
COX10 LIPT1 NDUFA10 NDUFA2 NDUFAF6 NDUFS1
NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 SDHA
SLC19A3 SURF1



Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Leigh syndrome with leukodystrophy

Synonym(s):
(no synonyms)

Synonym(s):
- Infantile subacute necrotizing encephalopathy with leukodystrophy
- Leigh disease with leukodystrophy

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

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

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: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.