Perrault syndrome 1

Preferred Label : Perrault syndrome 1;

Symbol : PRLTS1;

CISMeF acronym : PRLTS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gonadal dysgenesis, XX type, with deafness; Ovarian dysgenesis with sensorineural deafness;

Description : Perrault syndrome is a sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement (summary by Pierce et al., 2010). Pierce et al. (2010) noted that clinical heterogeneity of Perrault syndrome has prompted classification into type I, which is static and without neurologic disease, and type II, which is with progressive neurologic disease. - Genetic Heterogeneity of Perrault Syndrome See also PRLTS2 (614926), caused by mutation in the HARS2 gene (600783) on chromosome 5q31; PRLTS3 (614129), caused by mutation in the CLPP gene (601119) on chromosome 19p13; and PRLTS4 (615300), caused by mutation in the LARS2 gene (604544) on chromosome 3p21.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 17-beta-hydroxysteroid dehydrogenase 4 gene (HSD17B4, 601860.0008);

Laboratory abnormalities : Decreased beta-oxidation of pristanic acid;

Prefixed ID : #233400;

Details

Origin ID

233400;

UMLS CUI

C4551721;

Automatic exact mappings (from CISMeF team)
- HSD17B4 wt Allele [NCIt concept]
- Perrault syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Gonadal dysgenesis XX type deafness [MeSH concept]
- Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) [SNOMED CT concept]
- Perrault syndrome [ORDO Disease]
- gonadal dysgenesis XX type deafness [MeSH Supplementary Concept]
- gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance [SNOMED Notion]
DO Cross reference
- Perrault syndrome [DO Concept]
Genes related to phenotype
- 17-beta-hydroxysteroid dehydrogenase iv [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Gait ataxia [HPO term]
- Gonadal dysgenesis [HPO term]
- High palate [HPO term]
- Hyporeflexia [HPO term]
- Increased circulating gonadotropin level [HPO term]
- Intellectual disability, mild [HPO term]
- Intention tremor [HPO term]
- Limited extraocular movements [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Osteoporosis [HPO term]
- Pes cavus [HPO term]
- Primary amenorrhea [HPO term]
- Scoliosis [HPO term]
- Sensorimotor neuropathy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Spastic diplegia [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Perrault syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gonadal dysgenesis XX type deafness [MeSH concept]
- Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) [SNOMED CT concept]
- Perrault syndrome [ORDO Disease]
- Perrault syndrome [DO Concept]
- gonadal dysgenesis XX type deafness [MeSH Supplementary Concept]
- gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance [SNOMED Notion]

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