Perrault syndrome 5

Preferred Label : Perrault syndrome 5;

Symbol : PRLTS5;

CISMeF acronym : PRLTS5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 10 open reading frame 2 gene (C10ORF2, 606075.0016);

Laboratory abnormalities : Increased serum lactate, mild; Increased serum pyruvate, mild;

Prefixed ID : #616138;

Details

Origin ID

616138;

UMLS CUI

C4015307;

Genes related to phenotype
- Twinkle mtdna helicase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Gonadal dysgenesis [HPO term]
- High palate [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hyporeflexia [HPO term]
- Increased serum lactate [HPO term]
- Increased serum pyruvate [HPO term]
- Nystagmus [HPO term]
- Ophthalmoplegia [HPO term]
- Pes cavus [HPO term]
- Positive Romberg sign [HPO term]
- Primary amenorrhea [HPO term]
- Seizure [HPO term]
- Sensory axonal neuropathy [HPO term]
ORDO concept(s)
- Perrault syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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