Coenzyme q10 deficiency, primary, 8

Preferred Label : Coenzyme q10 deficiency, primary, 8;

Symbol : COQ10D8;

CISMeF acronym : COQ10D8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the S. cerevisiae CoQ7 gene (COQ7, 601683.0001);

Laboratory abnormalities : Decreased CoQ10 levels in skeletal muscle and fibroblasts; Increased urinary fumarate and malate; Increased serum and cerebrospinal fluid lactate, mild; Combined mitochondrial respiratory enzyme deficiency in skeletal muscle and fibroblasts;

Prefixed ID : #616733;

Détails

Origin ID

616733;

UMLS CUI

C4225226;

Automatic exact mappings (from CISMeF team)
- primary coenzyme Q10 deficiency 8 [DO Concept]
DO Cross reference
- primary coenzyme Q10 deficiency 8 [DO Concept]
Genes related to phenotype
- Coenzyme q7, hydroxylase [OMIM gene]
HPO term(s)
- Abnormal renal corticomedullary differentiation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypertension [HPO term]
- Hypotonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Left ventricular hypertrophy [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Oligohydramnios [HPO term]
- Pain [HPO term]
- Peripheral demyelination [HPO term]
- Polyneuropathy [HPO term]
- Postnatal growth retardation [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal dysplasia [HPO term]
- Respiratory distress [HPO term]
- Small for gestational age [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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