ORPHA:2855
Perrault syndrome
Synonyms: XX gonadal dysgenesis-deafness syndrome · XX gonadal dysgenesis-hearing loss syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic disease characterized by a clinical picture of variable severity associating sensorineural hearing impairment with ovarian dysgenesis in females, sometimes progressive neurologic disorder, and exceptionally renal disease. The disease affects both sexes, but hypogonadism is not a feature in males.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Perrault syndrome | XX gonadal dysgenesis-deafness syndrome · XX gonadal dysgenesis-hearing loss syndrome |
| fr | Syndrome de Perrault | Syndrome de dysgénésie gonadique type XX-surdité |
| de | Perrault-Syndrom | Syndrom der XX-Gonadendysgenesie mit Schwerhörigkeit · XX-Gonadendysgenesie mit Taubheit |
| es | Síndrome de Perrault | Síndrome de disgenesia gonadal XX-hipoacusia · Síndrome de disgenesia gonadal XX-sordera |
| it | Sindrome di Perrault | Sindrome disgenesia gonadica tipo XX-sordità · Disgenesia gonadica tipo XX - sordità |
| nl | Syndroom van Perrault | XX-gonadale dysgenesie - doofheid-syndroom · XX-gonadale dysgenesie - gehoorverlies-syndroom |
| pt | Síndrome Perrault | Síndrome de disgenesia gonadal tipo XX-surdez |
| pl | Zespół Perraulta | Dysgenezja gonad XX - głuchota |
| cs | Perraultův syndrom | Syndrom zahrnující XX gonadální dysgenezi a hluchotu |
| uk | Синдром Перро | XX синдром дисгенезії гонад - глухоти · XX синдром гонодальної дисгенезії - приглухуватості |
| zh | Perrault综合征 | XX性腺发育不良-听力丧失综合征 |
| tr | Perrault sendromu | XX gonodal disgenezi-sağırlık sendromu · XX gonodal disgenezi-işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 233400 | E | validated | |
| OMIM | 614129 | BTNT | validated | |
| OMIM | 614926 | BTNT | validated | |
| OMIM | 615300 | BTNT | validated | |
| OMIM | 616138 | BTNT | validated | |
| OMIM | 617565 | BTNT | validated | |
| OMIM | 619518 | BTNT | validated | |
| OMIM | 619737 | BTNT | validated | |
| OMIM | 621101 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0017312 | E | validated | |
| MeSH | C537286 | E | validated | |
| UMLS | C0685838 | E | validated | |
| GARD | 2542 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:399877Rare female infertility due to gonadal dysgenesis
rare genetic diseases; rare infertility disorders - ORPHA:485382Rare genetic premature ovarian failure
rare genetic diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:325109Syndrome with 46,XX difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
4
Genes
0 direct · 19 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PRORP | ORPHA:642945Perrault syndrome type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19958 | ENSG00000100890 | 609947 | 14q13.2 | protein only RNase P catalytic subunit | 34715011[PMID] |
| PRORP | ORPHA:642976Perrault syndrome type 2 | 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 | ORPHA:642945Perrault syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2084 | ENSG00000125656 | 601119 | 19p13.3 | caseinolytic mitochondrial matrix peptidase proteolytic subunit | 26970254[PMID] |
| CLPP | ORPHA:642976Perrault syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2084 | ENSG00000125656 | 601119 | 19p13.3 | caseinolytic mitochondrial matrix peptidase proteolytic subunit | 23541340[PMID] |
| DAP3 | ORPHA:642945Perrault syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2673 | 1q22 | death associated protein 3 | 39701103[PMID] | ||
| ERAL1 | ORPHA:642945Perrault syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3424 | ENSG00000132591 | 607435 | 17q11.2 | Era like 12S mitochondrial rRNA chaperone 1 | 26970254[PMID] |
| ERAL1 | ORPHA:642976Perrault syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3424 | ENSG00000132591 | 607435 | 17q11.2 | Era like 12S mitochondrial rRNA chaperone 1 | 26970254[PMID] |
| GGPS1 | ORPHA:642945Perrault syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4249 | ENSG00000152904 | 606982 | 1q42.3 | geranylgeranyl diphosphate synthase 1 | 32403198[PMID] |
| GGPS1 | ORPHA:642976Perrault syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4249 | ENSG00000152904 | 606982 | 1q42.3 | geranylgeranyl diphosphate synthase 1 | 32403198[PMID] |
| HARS2 | ORPHA:642945Perrault syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4817 | ENSG00000112855 | 600783 | 5q31.3 | histidyl-tRNA synthetase 2, mitochondrial | 21464306[PMID] |
| HARS2 | ORPHA:642976Perrault syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4817 | ENSG00000112855 | 600783 | 5q31.3 | histidyl-tRNA synthetase 2, mitochondrial | 21464306[PMID] |
| HSD17B4 | ORPHA:642945Perrault syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5213 | ENSG00000133835 | 601860 | 5q23.1 | hydroxysteroid 17-beta dehydrogenase 4 | 20673864[PMID] |
| HSD17B4 | ORPHA:642976Perrault syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:5213 | ENSG00000133835 | 601860 | 5q23.1 | hydroxysteroid 17-beta dehydrogenase 4 | 20673864[PMID] |
| LARS2 | ORPHA:642945Perrault syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17095 | ENSG00000011376 | 604544 | 3p21.31 | leucyl-tRNA synthetase 2, mitochondrial | 23541342[PMID] |
| LARS2 | ORPHA:642976Perrault syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:17095 | ENSG00000011376 | 604544 | 3p21.31 | leucyl-tRNA synthetase 2, mitochondrial | 23541342[PMID] |
| RMND1 | ORPHA:642945Perrault syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:21176 | ENSG00000155906 | 614917 | 6q25.1 | required for meiotic nuclear division 1 homolog | 34338890[PMID] |
| RMND1 | ORPHA:642976Perrault syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:21176 | ENSG00000155906 | 614917 | 6q25.1 | required for meiotic nuclear division 1 homolog | 34338890[PMID] |
| TWNK | ORPHA:642945Perrault syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1160 | ENSG00000107815 | 606075 | 10q24.31 | twinkle mtDNA helicase | 25355836[PMID] |
| TWNK | ORPHA:642976Perrault syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1160 | ENSG00000107815 | 606075 | 10q24.31 | twinkle mtDNA helicase | 25355836[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 124 cases | Worldwide | Case(s) | Validated | Haute Autorité de Santé[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
19 annotations · validated 2025-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0000013 | Hypoplasia of the uterus | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0000786 | Primary amenorrhea | |
| HP:0010464 | Streak ovary | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001251 | Ataxia | |
| HP:0000027 | Azoospermia | |
| HP:0000813 | Bicornuate uterus | |
| HP:0000175 | Cleft palate | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0001513 | Obesity | |
| HP:0000876 | Oligomenorrhea | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 25254289[PMID]_32423379[PMID]_32767731[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2855
- This record as JSON: /data/d/2855.json