Mitochondrial dna depletion syndrome 14 (cardioencephalomyopathic type)

Preferred Label : Mitochondrial dna depletion syndrome 14 (cardioencephalomyopathic type);

Symbol : MTDPS14;

CISMeF acronym : MTDPS14;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the OPA1 mitochondrial dynamin-like GTPase gene (OPA1, 605290.0023);

Laboratory abnormalities : Increased cerebrospinal fluid lactate; Increased serum lactate;

Prefixed ID : #616896;

Détails

Origin ID

616896;

UMLS CUI

C4225163;

Automatic exact mappings (from CISMeF team)
- OPA1 wt Allele [NCIt concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 14 [DO Concept]
Genes related to phenotype
- Opa1 mitochondrial dynamin-like gtpase [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Breech presentation [HPO term]
- Caesarian section [HPO term]
- Feeding difficulties in infancy [HPO term]
- Hypertonia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Neurodevelopmental delay [HPO term]
- Opisthotonus [HPO term]
- Profound global developmental delay [HPO term]
- Retinal degeneration [HPO term]
- Sensorineural hearing impairment [HPO term]
- Skeletal muscle atrophy [HPO term]
- Weak cry [HPO term]
Not associated HPO term(s)
- Congestive heart failure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients