Perrault syndrome 4

Preferred Label : Perrault syndrome 4;

Symbol : PRLTS4;

CISMeF acronym : PRLTS4;

Type : Phenotype, molecular basis known;

Description : Perrault syndrome is characterized by premature ovarian failure (POF) in females and by progressive hearing loss in both females and males (summary by Pierce et al., 2013). For discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (233400).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leucyl-tRNA synthetase 2 gene (LARS2, 604544.0001);

Prefixed ID : #615300;

Details

Origin ID

615300;

UMLS CUI

C3809105;

DO Cross reference
- Perrault syndrome [DO Concept]
Genes related to phenotype
- Leucyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Cleft palate [HPO term]
- Cognitive impairment [HPO term]
- Cubitus valgus [HPO term]
- Decreased serum estradiol [HPO term]
- Disproportionate tall stature [HPO term]
- Gait ataxia [HPO term]
- Hypoplasia of the ovary [HPO term]
- Hypoplasia of the uterus [HPO term]
- Increased circulating gonadotropin level [HPO term]
- Motor delay [HPO term]
- Obesity [HPO term]
- Oligomenorrhea [HPO term]
- Osteoporosis [HPO term]
- Premature ovarian insufficiency [HPO term]
- Primary amenorrhea [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Secondary amenorrhea [HPO term]
- Strabismus [HPO term]
- Tarlov cyst [HPO term]
ORDO concept(s)
- Perrault syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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