Perrault syndrome 2

Preferred Label : Perrault syndrome 2;

Symbol : PRLTS2;

CISMeF acronym : PRLTS2;

Type : Phenotype, molecular basis known;

Description : Perrault syndrome-2 is an autosomal recessive disorder characterized by sensorineural deafness in both males and females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile (summary by Pierce et al., 2011). For a discussion of genetic heterogeneity of Perrault syndrome, see;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the histidyl-tRNA synthetase 2 gene (HARS2, 600783.0001);

Prefixed ID : #614926;

Details

Origin ID

614926;

UMLS CUI

C3554105;

DO Cross reference
- Perrault syndrome [DO Concept]
Genes related to phenotype
- Histidyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Amenorrhea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
- Streak ovary [HPO term]
ORDO concept(s)
- Perrault syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Perrault syndrome [ORDO Disease]

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