Perrault Syndrome 3

General Information (adopted from Orphanet):

Synonyms, Signs: PRLTS3
Deafness, autosomal recessive 81, formerly
DFNB81, formerly
PRLTS type-3 [IBIS]
Number of Symptoms 26
OrphanetNr:
OMIM Id: 614129
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
25956234 [IBIS]
Age of onset: Childhood
Adolescent
Adult
25956234 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Perrault Syndrome
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare neurologic disease
 -Rare otorhinolaryngologic disease
 -Rare urogenital disease

Comment:

Perrault Syndrome 3 (PRLTS3) is a subtype / child of Perrault Syndrome. Pathogenic variations in the caseinolytic mitochondrial matrix peptidase proteolytic subunit (CLPP) gene on chromosome 19p13.3 (PMID:23541340) cause PRLTS3 (OMIM 61412) (PMID:23541340).

Symptom Information: Sort by abundance 

1
 (HPO:0004322) Short stature rare [HPO:skoehler] 23541340 IBIS 1232 / 7739
2
 (HPO:0001251) Ataxia 23541340 IBIS 413 / 7739
3
 (HPO:0002061) Lower limb spasticity 25956234 IBIS 56 / 7739
4
 (HPO:0001249) Intellectual disability 25956234 IBIS 1089 / 7739
5
 (HPO:0001250) Seizures rare [HPO:skoehler] 25956234 IBIS 1245 / 7739
6
 (HPO:0000252) Microcephaly 25956234 IBIS 832 / 7739
7
 (HPO:0000815) Hypergonadotropic hypogonadism 23541340 IBIS 48 / 7739
8
 (HPO:0000786) Primary amenorrhea 23541340 IBIS 61 / 7739
9
 (HPO:0000869) Secondary amenorrhea 27087618 IBIS 42 / 7739
10
 (HPO:0000133) Gonadal dysgenesis 27087618 IBIS 21 / 7739
11
 (HPO:0000137) Abnormality of the ovary 25956234 IBIS 41 / 7739
12
 (HPO:0010464) Streak ovary 23541340 IBIS 8 / 7739
13
 (HPO:0008209) Premature ovarian failure Very frequent [IBIS] 23541340 IBIS 28 / 7739
14
 (HPO:0001587) Primary ovarian failure Very frequent [IBIS] 26970254 IBIS 9 / 7739
15
 (HPO:0000013) Hypoplasia of the uterus 25956234 IBIS 21 / 7739
16
 (HPO:0008222) Female infertility 25956234 IBIS 7 / 7739
17
 (HPO:0000407) Sensorineural hearing impairment Very frequent [IBIS] 27087618 IBIS 524 / 7739
18
 (HPO:0001510) Growth delay 25956234 IBIS 295 / 7739
19
 (HPO:0001730) Progressive hearing impairment 25956234 IBIS 29 / 7739
20
 (HPO:0030338) Abnormal circulating gonadotropin level 23541340 IBIS 2 / 7739
21
 (HPO:0012444) Brain atrophy 25956234 IBIS 24 / 7739
22
 (MedDRA:10036601) Premature menopause 25956234 IBIS 3 / 7739
23
 (OMIM) Hearing loss, congenital sensorineural, severe to profound 23541340 IBIS 1 / 7739
24
 (OMIM) Increased gonadotropin levels 23541340 IBIS 3 / 7739
25
 (OMIM) Ovarian dysgenesis 25956234 IBIS 7 / 7739
26
 (OMIM) Small ovaries 23541340 IBIS 4 / 7739

Associated genes:

CLPP;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, ...
Clinical Description OMIM Ain et al. (2007) reported a consanguineous Pakistani family (PKDF291) in which 4 sisters had profound prelingual hearing loss. Reevaluation of this family by Jenkinson et al. (2013) revealed that all 4 affected sisters also had primary amenorrhea ...
Molecular genetics OMIM Jenkinson et al. (2013) performed exome sequencing in affected individuals with features of Perrault syndrome from 3 unrelated Pakistani families, including a family (PKDF291) reported by Ain et al. (2007) and another (PDF1) reported by Jenkinson et al. ...