MCID: PRR025
MIFTS: 33

Perrault Syndrome

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

Aliases & Classifications for Perrault Syndrome

MalaCards integrated aliases for Perrault Syndrome:

Name: Perrault Syndrome 12 24 53 25 59 37 6 15 40
Ovarian Dysgenesis with Sensorineural Deafness 53 25
Gonadal Dysgenesis, Xx Type, with Deafness 53 25
Gonadal Dysgenesis with Sensorineural Deafness, Autosomal Recessive Inheritance 25
Gonadal Dysgenesis with Auditory Dysfunction, Autosomal Recessive Inheritance 25
Xx Gonodal Dysgenesis-Deafness Syndrome 59
Gonadal Dysgenesis Xx Type Deafness 73
Gonadal Dysgenesis, Xx Type 53

Characteristics:

Orphanet epidemiological data:

59
perrault syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

GeneReviews:

24
Penetrance Penetrance has been complete in all molecularly characterized individuals...

Classifications:



External Ids:

Disease Ontology 12 DOID:0050857
Orphanet 59 ORPHA2855
UMLS via Orphanet 74 C0685838
ICD10 via Orphanet 34 Q87.8
KEGG 37 H02095
UMLS 73 C0685838

Summaries for Perrault Syndrome

NIH Rare Diseases : 53 Perrault syndrome is an inherited condition characterized by sensorineural hearing loss in males and females, and abnormalities of the ovaries in females. Neurological problems may also occur. The condition has several genetic causes. Mutations in the following genes have been found in a small number of affected individuals: C10orf2, CLPP, HARS2, LARS2, or HSD17B4. It is likely that other genes are also involved. Perrault syndrome is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The condition should be managed by a team of specialists, including an audiologist and otolaryngologist for hearing loss, an endocrinologist for primary amenorrhea, and a reproductive specialist for issues related to infertility.

MalaCards based summary : Perrault Syndrome, also known as ovarian dysgenesis with sensorineural deafness, is related to perrault syndrome 4 and perrault syndrome 5. An important gene associated with Perrault Syndrome is SGO2 (Shugoshin 2), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Primary bile acid biosynthesis. Affiliated tissues include ovary.

Genetics Home Reference : 25 Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. Neurological problems occur in some affected males and females.

Disease Ontology : 12 An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure.

Wikipedia : 76 This syndrome is inherited as an autosomal disease. It affects both males and females but the phenotype... more...

GeneReviews: NBK242617

Related Diseases for Perrault Syndrome

Graphical network of the top 20 diseases related to Perrault Syndrome:



Diseases related to Perrault Syndrome

Symptoms & Phenotypes for Perrault Syndrome

Drugs & Therapeutics for Perrault Syndrome

Search Clinical Trials , NIH Clinical Center for Perrault Syndrome

Genetic Tests for Perrault Syndrome

Anatomical Context for Perrault Syndrome

MalaCards organs/tissues related to Perrault Syndrome:

41
Ovary

Publications for Perrault Syndrome

Articles related to Perrault Syndrome:

(show all 35)
# Title Authors Year
1
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. ( 29205794 )
2018
2
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. ( 28178980 )
2017
3
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. ( 28449065 )
2017
4
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. ( 28830375 )
2017
5
Marfanoid habitus is a nonspecific feature of Perrault syndrome. ( 28832386 )
2017
6
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome. ( 27629923 )
2016
7
Expanding the Genotypic Spectrum of Perrault syndrome. ( 26970254 )
2016
8
Novel missense mutation in the CLPP gene causes Perrault Syndrome type-3 in a Turkish family. ( 27087618 )
2016
9
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. ( 27899912 )
2016
10
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. ( 27650058 )
2016
11
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. ( 26657938 )
2016
12
Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder. ( 25741941 )
2015
13
Perrault syndrome - a rare case report. ( 25954653 )
2015
14
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. ( 25956234 )
2015
15
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. ( 25355836 )
2014
16
Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome. ( 25424868 )
2014
17
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. ( 23541342 )
2013
18
Severe manifestation of Leber's hereditary optic neuropathy due to 11778G&amp;gt;A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome. ( 23748049 )
2013
19
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. ( 23541340 )
2013
20
Genotype and phenotype heterogeneity in perrault syndrome. ( 23332201 )
2013
21
Perrault syndrome: further evidence for genetic heterogeneity. ( 22037954 )
2012
22
A rare cause for primary amenorrhea: Sporadic perrault syndrome. ( 23087880 )
2012
23
Genetic pathogenesis of Perrault Syndrome. ( 24592027 )
2012
24
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. ( 21464306 )
2011
25
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. ( 20673864 )
2010
26
First-ever genetic link for Perrault syndrome established. ( 20979184 )
2010
27
Perrault Syndrome with progressive nervous system involvement. ( 19033811 )
2008
28
Perrault syndrome: report of four new cases, review and exclusion of candidate genes. ( 18241061 )
2008
29
Perrault syndrome with Marfanoid habitus in two siblings. ( 17868898 )
2007
30
Perrault syndrome: evidence for progressive nervous system involvement. ( 15216544 )
2004
31
Sporadic Perrault syndrome. ( 15512356 )
1999
32
Neurologic anomalies of Perrault syndrome. ( 8923934 )
1996
33
Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome? ( 8030674 )
1994
34
Perrault Syndrome ( 25254289 )
1993
35
The Perrault syndrome: clinical report and review. ( 3067578 )
1988

Variations for Perrault Syndrome

ClinVar genetic disease variations for Perrault Syndrome:

6
(show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLDN14 NM_012130.3(CLDN14): c.254T> A (p.Val85Asp) single nucleotide variant Pathogenic rs74315437 GRCh37 Chromosome 21, 37833740: 37833740
2 CLDN14 NM_012130.3(CLDN14): c.254T> A (p.Val85Asp) single nucleotide variant Pathogenic rs74315437 GRCh38 Chromosome 21, 36461442: 36461442
3 LARS2 NM_015340.3(LARS2): c.1565C> A (p.Thr522Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199589947 GRCh37 Chromosome 3, 45537808: 45537808
4 LARS2 NM_015340.3(LARS2): c.1565C> A (p.Thr522Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199589947 GRCh38 Chromosome 3, 45496316: 45496316
5 HSD17B4 NM_000414.3(HSD17B4): c.1471G> A (p.Ala491Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28943591 GRCh37 Chromosome 5, 118850709: 118850709
6 HSD17B4 NM_000414.3(HSD17B4): c.1471G> A (p.Ala491Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28943591 GRCh38 Chromosome 5, 119515014: 119515014
7 HSD17B4 NM_000414.3(HSD17B4): c.1767+8T> C single nucleotide variant Benign/Likely benign rs190659146 GRCh37 Chromosome 5, 118862922: 118862922
8 HSD17B4 NM_000414.3(HSD17B4): c.1767+8T> C single nucleotide variant Benign/Likely benign rs190659146 GRCh38 Chromosome 5, 119527227: 119527227
9 HSD17B4 NM_000414.3(HSD17B4): c.317G> A (p.Arg106His) single nucleotide variant Benign rs25640 GRCh37 Chromosome 5, 118811533: 118811533
10 HSD17B4 NM_000414.3(HSD17B4): c.317G> A (p.Arg106His) single nucleotide variant Benign rs25640 GRCh38 Chromosome 5, 119475838: 119475838
11 HSD17B4 NM_000414.3(HSD17B4): c.666C> G (p.Val222=) single nucleotide variant Conflicting interpretations of pathogenicity rs150677536 GRCh37 Chromosome 5, 118824930: 118824930
12 HSD17B4 NM_000414.3(HSD17B4): c.666C> G (p.Val222=) single nucleotide variant Conflicting interpretations of pathogenicity rs150677536 GRCh38 Chromosome 5, 119489235: 119489235
13 HSD17B4 NM_000414.3(HSD17B4): c.420A> T (p.Lys140Asn) single nucleotide variant Benign/Likely benign rs28943589 GRCh38 Chromosome 5, 119477487: 119477487
14 HSD17B4 NM_000414.3(HSD17B4): c.420A> T (p.Lys140Asn) single nucleotide variant Benign/Likely benign rs28943589 GRCh37 Chromosome 5, 118813182: 118813182
15 HSD17B4 NM_000414.3(HSD17B4): c.875C> G (p.Thr292Ser) single nucleotide variant Benign/Likely benign rs1143650 GRCh38 Chromosome 5, 119496549: 119496549
16 HSD17B4 NM_000414.3(HSD17B4): c.875C> G (p.Thr292Ser) single nucleotide variant Benign/Likely benign rs1143650 GRCh37 Chromosome 5, 118832244: 118832244
17 HSD17B4 NM_000414.3(HSD17B4): c.950C> T (p.Thr317Met) single nucleotide variant Uncertain significance rs150326995 GRCh38 Chromosome 5, 119496624: 119496624
18 HSD17B4 NM_000414.3(HSD17B4): c.950C> T (p.Thr317Met) single nucleotide variant Uncertain significance rs150326995 GRCh37 Chromosome 5, 118832319: 118832319
19 HSD17B4 NM_000414.3(HSD17B4): c.1531T> C (p.Trp511Arg) single nucleotide variant Benign rs11539471 GRCh38 Chromosome 5, 119525243: 119525243
20 HSD17B4 NM_000414.3(HSD17B4): c.1531T> C (p.Trp511Arg) single nucleotide variant Benign rs11539471 GRCh37 Chromosome 5, 118860938: 118860938
21 HSD17B4 NM_000414.3(HSD17B4): c.1566T> A (p.Ser522Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs184492796 GRCh38 Chromosome 5, 119525278: 119525278
22 HSD17B4 NM_000414.3(HSD17B4): c.1566T> A (p.Ser522Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs184492796 GRCh37 Chromosome 5, 118860973: 118860973
23 HSD17B4 NM_000414.3(HSD17B4): c.1675A> G (p.Ile559Val) single nucleotide variant Benign rs11205 GRCh37 Chromosome 5, 118861713: 118861713
24 HSD17B4 NM_000414.3(HSD17B4): c.1675A> G (p.Ile559Val) single nucleotide variant Benign rs11205 GRCh38 Chromosome 5, 119526018: 119526018
25 HSD17B4 NM_000414.3(HSD17B4): c.1791C> T (p.Val597=) single nucleotide variant Benign/Likely benign rs2560722 GRCh38 Chromosome 5, 119529917: 119529917
26 HSD17B4 NM_000414.3(HSD17B4): c.1791C> T (p.Val597=) single nucleotide variant Benign/Likely benign rs2560722 GRCh37 Chromosome 5, 118865612: 118865612
27 HSD17B4 NM_000414.3(HSD17B4): c.2060C> T (p.Thr687Ile) single nucleotide variant Benign/Likely benign rs28943592 GRCh37 Chromosome 5, 118872184: 118872184
28 HSD17B4 NM_000414.3(HSD17B4): c.2060C> T (p.Thr687Ile) single nucleotide variant Benign/Likely benign rs28943592 GRCh38 Chromosome 5, 119536489: 119536489
29 HSD17B4 NM_000414.3(HSD17B4): c.2182A> G (p.Met728Val) single nucleotide variant Benign/Likely benign rs28943594 GRCh38 Chromosome 5, 119541965: 119541965
30 HSD17B4 NM_000414.3(HSD17B4): c.2182A> G (p.Met728Val) single nucleotide variant Benign/Likely benign rs28943594 GRCh37 Chromosome 5, 118877660: 118877660
31 HSD17B4 NM_000414.3(HSD17B4): c.2199C> T (p.Tyr733=) single nucleotide variant Benign/Likely benign rs12714 GRCh37 Chromosome 5, 118877677: 118877677
32 HSD17B4 NM_000414.3(HSD17B4): c.2199C> T (p.Tyr733=) single nucleotide variant Benign/Likely benign rs12714 GRCh38 Chromosome 5, 119541982: 119541982
33 HSD17B4 NM_000414.3(HSD17B4): c.*6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs111671384 GRCh38 Chromosome 5, 119542000: 119542000
34 HSD17B4 NM_000414.3(HSD17B4): c.*6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs111671384 GRCh37 Chromosome 5, 118877695: 118877695
35 HSD17B4 NM_001199291.2(HSD17B4): c.1492C> T (p.Arg498Trp) single nucleotide variant Uncertain significance rs201455193 GRCh38 Chromosome 5, 119509224: 119509224
36 HSD17B4 NM_001199291.2(HSD17B4): c.1492C> T (p.Arg498Trp) single nucleotide variant Uncertain significance rs201455193 GRCh37 Chromosome 5, 118844919: 118844919
37 HSD17B4 NM_000414.3(HSD17B4): c.-75C> G single nucleotide variant Benign rs26180 GRCh38 Chromosome 5, 119452501: 119452501
38 HSD17B4 NM_000414.3(HSD17B4): c.-75C> G single nucleotide variant Benign rs26180 GRCh37 Chromosome 5, 118788196: 118788196
39 HSD17B4 NM_000414.3(HSD17B4): c.-28C> T single nucleotide variant Conflicting interpretations of pathogenicity rs34353289 GRCh38 Chromosome 5, 119452548: 119452548
40 HSD17B4 NM_000414.3(HSD17B4): c.-28C> T single nucleotide variant Conflicting interpretations of pathogenicity rs34353289 GRCh37 Chromosome 5, 118788243: 118788243
41 HSD17B4 NM_000414.3(HSD17B4): c.161C> A (p.Ala54Asp) single nucleotide variant Uncertain significance rs141517981 GRCh38 Chromosome 5, 119473956: 119473956
42 HSD17B4 NM_000414.3(HSD17B4): c.161C> A (p.Ala54Asp) single nucleotide variant Uncertain significance rs141517981 GRCh37 Chromosome 5, 118809651: 118809651
43 HSD17B4 NM_000414.3(HSD17B4): c.1131C> T (p.Phe377=) single nucleotide variant Uncertain significance rs200347945 GRCh38 Chromosome 5, 119499475: 119499475
44 HSD17B4 NM_000414.3(HSD17B4): c.1131C> T (p.Phe377=) single nucleotide variant Uncertain significance rs200347945 GRCh37 Chromosome 5, 118835170: 118835170
45 HSD17B4 NM_000414.3(HSD17B4): c.1854+7T> C single nucleotide variant Uncertain significance rs886059822 GRCh38 Chromosome 5, 119529987: 119529987
46 HSD17B4 NM_000414.3(HSD17B4): c.1854+7T> C single nucleotide variant Uncertain significance rs886059822 GRCh37 Chromosome 5, 118865682: 118865682
47 HSD17B4 NM_000414.3(HSD17B4): c.2025G> A (p.Val675=) single nucleotide variant Uncertain significance rs763204818 GRCh38 Chromosome 5, 119536454: 119536454
48 HSD17B4 NM_000414.3(HSD17B4): c.2025G> A (p.Val675=) single nucleotide variant Uncertain significance rs763204818 GRCh37 Chromosome 5, 118872149: 118872149
49 HSD17B4 NM_000414.3(HSD17B4): c.*134C> T single nucleotide variant Uncertain significance rs543194892 GRCh38 Chromosome 5, 119542128: 119542128
50 HSD17B4 NM_000414.3(HSD17B4): c.*134C> T single nucleotide variant Uncertain significance rs543194892 GRCh37 Chromosome 5, 118877823: 118877823

Expression for Perrault Syndrome

Search GEO for disease gene expression data for Perrault Syndrome.

Pathways for Perrault Syndrome

Pathways related to Perrault Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970
2 Primary bile acid biosynthesis hsa00120

Pathways related to Perrault Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.04 HARS HARS2 LARS2

GO Terms for Perrault Syndrome

Cellular components related to Perrault Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.56 CLPP ERAL1 HARS HARS2 HSD17B4 LARS2
2 mitochondrial matrix GO:0005759 9.02 CLPP ERAL1 HARS2 LARS2 TWNK

Biological processes related to Perrault Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.56 HARS HARS2 LARS2 MRPL43
2 tRNA aminoacylation for protein translation GO:0006418 9.33 HARS HARS2 LARS2
3 photoreceptor cell maintenance GO:0045494 9.32 CIB2 CLRN1
4 mitochondrial translation GO:0032543 9.13 HARS HARS2 LARS2
5 histidyl-tRNA aminoacylation GO:0006427 8.62 HARS HARS2

Molecular functions related to Perrault Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.33 HARS HARS2 LARS2
2 aminoacyl-tRNA ligase activity GO:0004812 9.13 HARS HARS2 LARS2
3 histidine-tRNA ligase activity GO:0004821 8.62 HARS HARS2

Sources for Perrault Syndrome

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
Content
Loading form....