MCID: PRR024
MIFTS: 22

Perrault Syndrome 3

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

Aliases & Classifications for Perrault Syndrome 3

MalaCards integrated aliases for Perrault Syndrome 3:

Name: Perrault Syndrome 3 57 75 29 6 73
Prlts3 57 75
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:



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 uterus and ovary, and related phenotypes are hypoplasia of the uterus and microcephaly

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature (in some patients)

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)

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

Endocrine Features:
increased gonadotropin levels (in female patients)


Clinical features from OMIM:

614129

Human phenotypes related to Perrault Syndrome 3:

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

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
Uterus, Ovary

Publications for Perrault Syndrome 3

Variations for Perrault Syndrome 3

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

75
# 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

ClinVar genetic disease variations for Perrault Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLPP NM_006012.2(CLPP): c.433A> C (p.Thr145Pro) single nucleotide variant Pathogenic rs398123033 GRCh37 Chromosome 19, 6364528: 6364528
2 CLPP NM_006012.2(CLPP): c.433A> C (p.Thr145Pro) single nucleotide variant Pathogenic rs398123033 GRCh38 Chromosome 19, 6364517: 6364517
3 CLPP NM_006012.2(CLPP): c.440G> C (p.Cys147Ser) single nucleotide variant Pathogenic rs398123034 GRCh37 Chromosome 19, 6364535: 6364535
4 CLPP NM_006012.2(CLPP): c.440G> C (p.Cys147Ser) single nucleotide variant Pathogenic rs398123034 GRCh38 Chromosome 19, 6364524: 6364524
5 CLPP NM_006012.2(CLPP): c.270+4A> G single nucleotide variant Pathogenic rs398123035 GRCh37 Chromosome 19, 6361955: 6361955
6 CLPP NM_006012.2(CLPP): c.270+4A> G single nucleotide variant Pathogenic rs398123035 GRCh38 Chromosome 19, 6361944: 6361944

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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