Coenzyme q10 deficiency, primary, 5

Preferred Label : Coenzyme q10 deficiency, primary, 5;

Symbol : COQ10D5;

CISMeF acronym : COQ10D5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the S. cerevisiae COQ9 gene (COQ9, 612837.0001);

Laboratory abnormalities : Increased serum lactate; Increased serum alanine;

Prefixed ID : #614654;

Détails

Origin ID

614654;

UMLS CUI

C3553374;

Automatic exact mappings (from CISMeF team)
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- primary coenzyme Q10 deficiency 5 [DO Concept]
DO Cross reference
- primary coenzyme Q10 deficiency 5 [DO Concept]
Genes related to phenotype
- Coenzyme 9 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Dystonia [HPO term]
- Encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperalaninemia [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Intrauterine growth retardation [HPO term]
- Lactic acidosis [HPO term]
- Left ventricular hypertrophy [HPO term]
- Respiratory insufficiency [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Weak cry [HPO term]
ORDO concept(s)
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- coenzyme Q10 deficiency disease [DO Concept]

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

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