Perrault Syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PRLTS [IBIS] XX gonadal dysgenesis - deafness |
| Number of Symptoms | 0 |
| OrphanetNr: | 2855 |
| OMIM Id: |
233400
614129 614926 615300 |
| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 34 cases |
| Inheritance: |
Autosomal recessive 25956234 [IBIS] |
| Age of onset: |
Childhood Adolescent Adult 25956234 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Non-acquired premature ovarian failure -Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease Syndrome with 46,XX disorder of sex development -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare urogenital disease Syndrome with disorder of sex development of gynecological interest -Rare genetic disease -Rare gynecologic or obstetric disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Comment:
| This term does not characterize a disease but a group of diseases (Perrault Syndrome type 1-5). Annotations can be found at a more specific level. Perrault Syndrome (PRLTS) is a clinically and genetically heterogeneous disorder. Both male and female patients suffer from sensory neuronal hearing loss in early childhood, and female patients are characterized by premature ovarian failure and infertility after puberty. Clinical diagnosis may not be possible in early life, because key features of PRLTS, for example infertility and premature ovarian failure, do not appear before puberty (PMID:25956234). Mutations in five genes, HSD17B4, HARS2, CLPP, LARS2, and C10orf2, have been reported in five subtypes of PRLTS: PRLTS1 (mutations in gene HSD17B4), PRLTS2 (gene HARS2), PRLTS3 (gene CLPP), PRLTS4 (gene LARS2), and PRLTS5 (gene C10orf2) (PMID:25956234). |
Symptom Information:
Associated genes:
| HSD17B4; HARS2; CLPP; LARS2; C10orf2; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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