ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Severe X-linked mitochondrial encephalomyopathy

Hereditary coproporphyria


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AIFM1	(0.49)	CPOX

Citations in the biomedical literature:

Severe X-linked mitochondrial encephalomyopathy		Hereditary coproporphyria
	Synonym(s): - Mitochondrial encephalomyopathy due to COXPD6 - Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare renal disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D046349

Hereditary coproporphyria
	Very frequent - Acute abdominal pain / colic - Autosomal dominant inheritance - Diffuse / generalised skin hyperpigmentation / melanoderma - Myalgia / muscular pain - Nausea / vomiting / regurgitation / merycism / hyperemesis - Obnubilation / coma / lethargia / desorientation - Psychic / behavioural troubles - Skin photosensitivity - Thin skin - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Constipation Occasional - Articular / joint pain / arthralgia - Delirium / hallucination - Diaphragmatic palsy - Hyponatremia
Severe X-linked mitochondrial encephalomyopathy
(no data available)