MCID: PRR025
MIFTS: 36

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 23 50 25 56 14
Gonadal Dysgenesis with Auditory Dysfunction, Autosomal Recessive Inheritance 25 29
Ovarian Dysgenesis with Sensorineural Deafness 50 25
Gonadal Dysgenesis, Xx Type, with Deafness 50 25
Gonadal Dysgenesis with Sensorineural Deafness, Autosomal Recessive Inheritance 25
Xx Gonodal Dysgenesis-Deafness Syndrome 56
Gonadal Dysgenesis Xx Type Deafness 69
Gonadal Dysgenesis, Xx Type 50

Characteristics:

Orphanet epidemiological data:

56
perrault syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

GeneReviews:

23
Penetrance Penetrance has been complete in all molecularly characterized individuals...

Classifications:



External Ids:

Disease Ontology 12 DOID:0050857
Orphanet 56 ORPHA2855
UMLS via Orphanet 70 C0685838
ICD10 via Orphanet 34 Q87.8

Summaries for Perrault Syndrome

NIH Rare Diseases : 50 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. last updated: 4/26/2016

MalaCards based summary : Perrault Syndrome, also known as gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance, is related to perrault syndrome 1 and perrault syndrome 3, and has symptoms including lower limb muscle weakness An important gene associated with Perrault Syndrome is HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4), and among its related pathways/superpathways is tRNA Aminoacylation. 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 : 72 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

UMLS symptoms related to Perrault Syndrome:


lower limb muscle weakness

Drugs & Therapeutics for Perrault Syndrome

Search Clinical Trials , NIH Clinical Center for Perrault Syndrome

Genetic Tests for Perrault Syndrome

Genetic tests related to Perrault Syndrome:

id Genetic test Affiliating Genes
1 Gonadal Dysgenesis with Auditory Dysfunction, Autosomal Recessive Inheritance 29

Anatomical Context for Perrault Syndrome

MalaCards organs/tissues related to Perrault Syndrome:

39
Ovary

Publications for Perrault Syndrome

Articles related to Perrault Syndrome:

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

Variations for Perrault Syndrome

ClinVar genetic disease variations for Perrault Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HSD17B4 NM_000414.3(HSD17B4): c.1369A> T (p.Asn457Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137853097 GRCh37 Chromosome 5, 118844871: 118844871
2 HSD17B4 NM_000414.3(HSD17B4): c.650A> G (p.Tyr217Cys) single nucleotide variant Pathogenic rs387906825 GRCh37 Chromosome 5, 118824914: 118824914
3 HSD17B4 HSD17B4, TYR568TER undetermined variant Pathogenic
4 HSD17B4 NM_000414.3(HSD17B4): c.101C> T (p.Ala34Val) single nucleotide variant Pathogenic rs587777442 GRCh38 Chromosome 5, 119456357: 119456357
5 HSD17B4 NM_000414.3(HSD17B4): c.1547T> C (p.Ile516Thr) single nucleotide variant Pathogenic rs587777443 GRCh38 Chromosome 5, 119525259: 119525259
6 HSD17B4 NM_000414.3(HSD17B4): c.1538C> T (p.Pro513Leu) single nucleotide variant Pathogenic rs587777444 GRCh38 Chromosome 5, 119525250: 119525250
7 HSD17B4 NM_000414.3(HSD17B4): c.1628G> C (p.Arg543Pro) single nucleotide variant Pathogenic rs201009485 GRCh38 Chromosome 5, 119525971: 119525971
8 HSD17B4 NM_000414.3(HSD17B4): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1085307072 GRCh38 Chromosome 5, 119452578: 119452578

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 GeneCards Suite gene sharing:

id 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:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 CLPP HARS HARS2 HSD17B4 LARS2 TWNK
2 mitochondrial matrix GO:0005759 8.92 CLPP HARS2 LARS2 TWNK

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

id Name GO ID Score Top Affiliating Genes
1 tRNA aminoacylation for protein translation GO:0006418 9.33 HARS HARS2 LARS2
2 photoreceptor cell maintenance GO:0045494 9.26 CIB2 CLRN1
3 mitochondrial translation GO:0032543 9.13 HARS HARS2 LARS2
4 histidyl-tRNA aminoacylation GO:0006427 8.62 HARS HARS2

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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