PRLTS3
MCID: PRR024
MIFTS: 25

Perrault Syndrome 3 (PRLTS3)

Categories: Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Perrault Syndrome 3

MalaCards integrated aliases for Perrault Syndrome 3:

Name: Perrault Syndrome 3 57 74 29 6 72
Prlts3 57 74
Deafness, Autosomal Recessive 81, Formerly; Dfnb81, Formerly 57
Deafness, Autosomal Recessive 81, Formerly 57
Dfnb81, Formerly 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
perrault syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

UMLS 72 C3808414

Summaries for Perrault Syndrome 3

OMIM : 57 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, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by Jenkinson et al., 2013). For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (233400). (614129)

MalaCards based summary : Perrault Syndrome 3, is also known as prlts3. An important gene associated with Perrault Syndrome 3 is CLPP (Caseinolytic Mitochondrial Matrix Peptidase Proteolytic Subunit). Affiliated tissues include ovary and uterus, and related phenotypes are seizures and microcephaly

UniProtKB/Swiss-Prot : 74 Perrault syndrome 3: A sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some PRLTS3 affected individuals.

Related Diseases for Perrault Syndrome 3

Symptoms & Phenotypes for Perrault Syndrome 3

Human phenotypes related to Perrault Syndrome 3:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 microcephaly 32 occasional (7.5%) HP:0000252
3 short stature 32 occasional (7.5%) HP:0004322
4 primary amenorrhea 32 HP:0000786
5 hypergonadotropic hypogonadism 32 HP:0000815
6 congenital sensorineural hearing impairment 32 HP:0008527
7 hypoplasia of the uterus 32 HP:0000013

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature (in some patients)

Genitourinary Internal Genitalia Female:
rudimentary uterus
ovarian failure, premature
small ovaries
streak ovaries

Head And Neck Ears:
hearing loss, congenital sensorineural, severe to profound

Neurologic Central Nervous System:
seizures (in some patients)
learning and developmental delay (in some patients)
ataxia, cerebellar (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Endocrine Features:
increased gonadotropin levels (in female patients)

Clinical features from OMIM:

614129

Drugs & Therapeutics for Perrault Syndrome 3

Search Clinical Trials , NIH Clinical Center for Perrault Syndrome 3

Genetic Tests for Perrault Syndrome 3

Genetic tests related to Perrault Syndrome 3:

# Genetic test Affiliating Genes
1 Perrault Syndrome 3 29 CLPP

Anatomical Context for Perrault Syndrome 3

MalaCards organs/tissues related to Perrault Syndrome 3:

41
Ovary, Uterus

Publications for Perrault Syndrome 3

Articles related to Perrault Syndrome 3:

# Title Authors PMID Year
1
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. 8 71
27087618 2016
2
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. 8 71
23541340 2013
3
Perrault syndrome: further evidence for genetic heterogeneity. 8 71
22037954 2012
4
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. 8 71
21660509 2011
5
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. 8 71
17690910 2007
6
Perrault Syndrome 71
25254289 2014
7
Perrault syndrome type 3 caused by diverse molecular defects in CLPP. 38
30150665 2018
8
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. 38
27899912 2016
9
Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3. 38
25956234 2015

Variations for Perrault Syndrome 3

ClinVar genetic disease variations for Perrault Syndrome 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CLPP NM_006012.4(CLPP): c.624C> G (p.Ile208Met) single nucleotide variant Pathogenic rs1555719766 19:6366337-6366337 19:6366326-6366326
2 CLPP NM_006012.4(CLPP): c.433A> C (p.Thr145Pro) single nucleotide variant Pathogenic rs398123033 19:6364528-6364528 19:6364517-6364517
3 CLPP NM_006012.4(CLPP): c.440G> C (p.Cys147Ser) single nucleotide variant Pathogenic rs398123034 19:6364535-6364535 19:6364524-6364524
4 CLPP NM_006012.4(CLPP): c.270+4A> G single nucleotide variant Pathogenic rs398123035 19:6361955-6361955 19:6361944-6361944

UniProtKB/Swiss-Prot genetic disease variations for Perrault Syndrome 3:

74
# Symbol AA change Variation ID SNP ID
1 CLPP p.Thr145Pro VAR_070092 rs398123033
2 CLPP p.Cys147Ser VAR_070093 rs398123034
3 CLPP p.Tyr229Asp VAR_074160

Expression for Perrault Syndrome 3

Search GEO for disease gene expression data for Perrault Syndrome 3.

Pathways for Perrault Syndrome 3

GO Terms for Perrault Syndrome 3

Sources for Perrault Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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