MCID: FTL050
MIFTS: 7

Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency

Categories: Metabolic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial...

MalaCards integrated aliases for Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency:

Name: Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency 59
Fatal Infantile Hypertrophic Cardiomyopathy Due to Nadh-Coenzyme Q Reductase Deficiency 59
Fatal Infantile Hypertrophic Cardiomyopathy Due to Nadh-Coq Reductase Deficiency 59
Fatal Infantile Hcm Due to Mitochondrial Complex I Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Orphanet 59 ORPHA289527
ICD10 via Orphanet 34 I42.2

Summaries for Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial...

MalaCards based summary : Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency, is also known as fatal infantile hypertrophic cardiomyopathy due to nadh-coenzyme q reductase deficiency. An important gene associated with Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency is NDUFAF1 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1).

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17 ExPASy
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