ORPHA:642945
Perrault syndrome type 1
Synonyms: XX gonadal dysgenesis-deafness syndrome-without neurological manifestations
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
A form of Perrault syndrome characterized by sensorineural hearing loss and ovarian dysgenesis in females. No neurological features are observed. Hearing loss is sensorineural, generally bilateral, prelingual, progressive, sometimes asymmetric and manifests with variable severity (mild to profound). Majority of the cases have primary amenorrhea.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Perrault syndrome type 1 | XX gonadal dysgenesis-deafness syndrome-without neurological manifestations |
| fr | Syndrome de Perrault type 1 | Syndrome de dysgénésie gonadique type XX-surdité-sans manifestations neurologiques |
| de | Perrault-Syndrom Typ 1 | Syndrom der XX Gonaden-Dysgenesie mit Schwerhörigkeit ohne neurologische Manifestationen |
| es | Síndrome de Perrault tipo 1 | Síndrome de disgenesia gonadal XX-sordera sin manifestaciones neurológicas |
| it | Sindrome di Perrault tipo 1 | Sindrome disgenesia gonadica XX-sordità senza sintomi neurologici |
| nl | Syndroom van Perrault type 1 | XX gonadale dysgenesie - doofheid-syndroom zonder neurologische manifestaties |
| pt | Síndrome Perrault tipo 1 | Síndrome de surdez-disgenésia gonadal XX sem manifestações neurológicas |
| pl | Zespół Perraulta typu 1 | = en |
| cs | Perraultův syndrom, typ 1 | = en |
| uk | Синдром Перро, тип 1 | XX синдром дисгенезії гонад - глухота без неврологічних проявів |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 621101 | BTNT | validated | |
| MONDO | 0009300 | E | validated | |
| UMLS | C5816798 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2855Perrault syndrome
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare otorhinolaryngological diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
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Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRORP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19958 | ENSG00000100890 | 609947 | 14q13.2 | protein only RNase P catalytic subunit | 34715011[PMID] |
| CLPP | Disease-causing germline mutation(s) in | Assessed | HGNC:2084 | ENSG00000125656 | 601119 | 19p13.3 | caseinolytic mitochondrial matrix peptidase proteolytic subunit | 26970254[PMID] |
| DAP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2673 | 1q22 | death associated protein 3 | 39701103[PMID] | ||
| ERAL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3424 | ENSG00000132591 | 607435 | 17q11.2 | Era like 12S mitochondrial rRNA chaperone 1 | 26970254[PMID] |
| GGPS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4249 | ENSG00000152904 | 606982 | 1q42.3 | geranylgeranyl diphosphate synthase 1 | 32403198[PMID] |
| HARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4817 | ENSG00000112855 | 600783 | 5q31.3 | histidyl-tRNA synthetase 2, mitochondrial | 21464306[PMID] |
| HSD17B4 | Disease-causing germline mutation(s) in | Assessed | HGNC:5213 | ENSG00000133835 | 601860 | 5q23.1 | hydroxysteroid 17-beta dehydrogenase 4 | 20673864[PMID] |
| LARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:17095 | ENSG00000011376 | 604544 | 3p21.31 | leucyl-tRNA synthetase 2, mitochondrial | 23541342[PMID] |
| RMND1 | Disease-causing germline mutation(s) in | Assessed | HGNC:21176 | ENSG00000155906 | 614917 | 6q25.1 | required for meiotic nuclear division 1 homolog | 34338890[PMID] |
| TWNK | Disease-causing germline mutation(s) in | Assessed | HGNC:1160 | ENSG00000107815 | 606075 | 10q24.31 | twinkle mtDNA helicase | 25355836[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/642945
- This record as JSON: /data/d/642945.json