ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Combined immunodeficiency due to STK4 deficiency

Severe X-linked mitochondrial encephalomyopathy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STK4	(0.63)	AIFM1

Citations in the biomedical literature:

Combined immunodeficiency due to STK4 deficiency		Severe X-linked mitochondrial encephalomyopathy
	Synonym(s): - CID due to STK4 deficiency		Synonym(s): - Mitochondrial encephalomyopathy due to COXPD6 - Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Inborn errors of metabolism - 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): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

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

No signs/symptoms info available.