Perrault syndrome type 2
Synonyms: XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
A form of Perrault syndrome characterized by sensorineural, generally bilateral, prelingual, progressive and sometimes asymmetric hearing loss, primary ovarian dysgenesis in females and neurological features of variable severity including cerebellar dysfunction/athrophy with ataxia, intellectual disability, neuropathy and behavioral symptoms. Additional clinical features may involve developmental delay, muscular and renal manifestations.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Perrault syndrome type 2 | XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations |
| fr | Syndrome de Perrault type 2 | |
| de | Perrault-Syndrom Typ 2 | Syndrom der XX Gonaden-Dysgenesie mit Schwerhörigkeit und progredienten neurologische Manifestationen |
| es | Síndrome de Perrault tipo 2 | Síndrome de disgenesia gonadal XX-sordera-manifestaciones neurológicas progresivas |
| it | Sindrome di Perrault tipo 2 | Sindrome disgenesia gonadica XX-sordità-sintomi neurologici progressivi |
| nl | Syndroom van Perrault type 2 | XX gonadale dysgenesie - doofheidsyndroom - progressieve neurologische manifestaties |
| pt | Síndrome Perrault tipo 2 | Síndrome de surdez-disgenesia gonadal XX-neuropatia progressiva |
| pl | Zespół Perraulta typu 2 | = en |
| cs | Perraultův syndrom, typ 2 | = en |
| uk | Синдром Перро, тип 2 | Синдром XX дисгенезії гонад - глухоти - прогресуючих неврологічних проявів |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0013972 | E | validated | |
| UMLS | C5816795 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Genes
9 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 | 23541340[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] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/642976
- This record as JSON: /data/d/642976.json