Perrault syndrome 3

Preferred Label : Perrault syndrome 3;

Symbol : PRLTS3;

CISMeF acronym : DFNB81; PRLTS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DFNB81; Deafness, autosomal recessive 81;

Description : Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by Jenkinson et al., 2013). For a discussion of genetic heterogeneity of Perrault syndrome, see;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the E. coli ATP-dependent protease ClpAP, proteolytic subunit gene (CLPP, 601119.0001);

Prefixed ID : #614129;

Details

Origin ID

614129;

UMLS CUI

C3808414;

DO Cross reference
- Perrault syndrome [DO Concept]
Genes related to phenotype
- Caseinolytic mitochondrial matrix peptidase proteolytic subunit [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hypoplasia of the uterus [HPO term]
- Microcephaly [HPO term]
- Primary amenorrhea [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Perrault syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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