MCID: PRR025
MIFTS: 41

Perrault Syndrome

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

Aliases & Classifications for Perrault Syndrome

MalaCards integrated aliases for Perrault Syndrome:

Name: Perrault Syndrome 12 24 52 25 58 36 29 6 15 39
Ovarian Dysgenesis with Sensorineural Deafness 52 25
Gonadal Dysgenesis, Xx Type, with Deafness 52 25
Gonadal Dysgenesis with Sensorineural Deafness, Autosomal Recessive Inheritance 25
Gonadal Dysgenesis with Auditory Dysfunction, Autosomal Recessive Inheritance 25
Xx Gonodal Dysgenesis-Hearing Loss Syndrome 58
Xx Gonodal Dysgenesis-Deafness Syndrome 58
Gonadal Dysgenesis Xx Type Deafness 71
Gonadal Dysgenesis, Xx Type 52

Characteristics:

Orphanet epidemiological data:

58
perrault syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050857
KEGG 36 H02095
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C0685838
Orphanet 58 ORPHA2855
UMLS 71 C0685838

Summaries for Perrault Syndrome

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. In Perrault syndrome, the problems with hearing are caused by changes in the inner ear, which is known as sensorineural hearing loss. The impairment usually affects both ears and can be present at birth or begin in early childhood. Unless hearing is completely impaired at birth, the hearing problems worsen over time. Females with Perrault syndrome have abnormal or missing ovaries (ovarian dysgenesis), although their external genitalia are normal. Severely affected girls do not begin menstruation by age 16 (primary amenorrhea), and most never have a menstrual period. Less severely affected women have an early loss of ovarian function (primary ovarian insufficiency); their menstrual periods begin in adolescence, but they become less frequent and eventually stop before age 40. Women with Perrault syndrome may have difficulty conceiving or be unable to have biological children (infertile). Neurological problems in individuals with Perrault syndrome can include intellectual disability, difficulty with balance and coordinating movements (ataxia), and loss of sensation and weakness in the limbs (peripheral neuropathy). However, not everyone with this condition has neurological problems.

MalaCards based summary : Perrault Syndrome, also known as ovarian dysgenesis with sensorineural deafness, is related to perrault syndrome 4 and perrault syndrome 1. An important gene associated with Perrault Syndrome is HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Primary bile acid biosynthesis. Affiliated tissues include ovary, and related phenotype is mortality/aging.

Disease Ontology : 12 A syndrome that is characterized by sensorineural hearing loss and ovarian failure.

NIH Rare Diseases : 52 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.

KEGG : 36 Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure. Previously mutations have been described in different genes, mostly related to mitochondrial proteostasis.

Wikipedia : 74 XX gonadal dysgenesis is a type of female hypogonadism in which no functional ovaries are present to... more...

GeneReviews: NBK242617

Related Diseases for Perrault Syndrome

Diseases in the Perrault Syndrome family:

Perrault Syndrome 1 Perrault Syndrome 3
Perrault Syndrome 2 Perrault Syndrome 4
Perrault Syndrome 5 Perrault Syndrome 6

Diseases related to Perrault Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 perrault syndrome 4 35.0 LARS2-AS1 LARS2
2 perrault syndrome 1 35.0 PRORP HSD17B4
3 d-bifunctional protein deficiency 33.4 PDGFRL LARS2 HSD17B4 CLPP
4 46 xx gonadal dysgenesis 31.7 LARS2 HSD17B4 HARS2 FOXL2 EPRS1 CLPP
5 premature ovarian failure 1 31.3 SGO2 LARS2 HSD17B4 FOXL2 EPRS1 CLPP
6 hydrops, lactic acidosis, and sideroblastic anemia 31.0 LARS2-AS1 LARS2
7 mitochondrial dna depletion syndrome 30.9 TWNK FARS2 DARS2
8 mitochondrial myopathy 30.7 TWNK SARS2 LARS2-AS1 LARS2 EPRS1 DARS2
9 leukodystrophy 30.7 LARS2 HSD17B4 EPRS1 EARS2 DARS2
10 perrault syndrome 2 12.7
11 perrault syndrome 3 12.7
12 perrault syndrome 5 12.7
13 perrault syndrome 6 12.7
14 ovarian dysgenesis 1 11.8
15 usher syndrome, type iiib 10.6 HARS2 HARS1 EPRS1
16 bagassosis 10.6 HARS2 HARS1
17 multiple synostoses syndrome 10.6 LARS2 HSD17B4 CLPP
18 branchiootic syndrome 1 10.6
19 deafness, autosomal recessive 89 10.6 RARS2 LARS2 EPRS1
20 deafness, autosomal recessive 94 10.6 LARS2 FARS2 EARS2
21 sensorineural hearing loss 10.6
22 codas syndrome 10.6 PRORP CLPX CLPP
23 pontocerebellar hypoplasia, type 6 10.6 RARS2 LARS2 DARS2
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
25 pontocerebellar hypoplasia 10.6 RARS2 EPRS1 DARS2
26 robinow syndrome, autosomal recessive 1 10.6 RARS2 LARS2 EPRS1
27 mitochondrial dna depletion syndrome 4a 10.6 TWNK RARS2 FARS2 DARS2
28 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.6 TWNK PDGFRL
29 myoclonic epilepsy associated with ragged-red fibers 10.5 TWNK LARS2 DARS2
30 gonadal dysgenesis 10.5
31 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.5 TWNK RARS2 LARS2 EPRS1 DARS2
32 mitochondrial encephalomyopathy 10.5 TWNK LARS2 FARS2 EPRS1 DARS2
33 combined oxidative phosphorylation deficiency 12 10.5 RARS2 FARS2 EPRS1 EARS2 DARS2
34 mitochondrial dna depletion syndrome 6 10.5 TWNK DARS2
35 epileptic encephalopathy, early infantile, 29 10.5 SARS2 RARS2
36 ataxia and polyneuropathy, adult-onset 10.5
37 charcot-marie-tooth disease, dominant intermediate c 10.5 EPRS1 DARS2
38 neuronopathy, distal hereditary motor, type va 10.5 RARS2 LARS2 HARS2 HARS1 FARS2 EPRS1
39 amenorrhea 10.5
40 mitochondrial metabolism disease 10.4 TWNK RARS2 FARS2 EPRS1 EARS2 DARS2
41 autosomal recessive disease 10.4
42 deafness, autosomal recessive 98 10.4 EPRS1 CLDN14
43 ovarian disease 10.4
44 neuropathy 10.3
45 charcot-marie-tooth disease, axonal, type 2d 10.3 EPRS1 DARS2
46 charcot-marie-tooth disease 10.3 RARS2 HARS1 EPRS1 EARS2 DARS2
47 polyneuropathy 10.2
48 infertility 10.2
49 peripheral nervous system disease 10.2
50 mitochondrial dna depletion syndrome 5 10.1 RARS2 DARS2

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



Diseases related to Perrault Syndrome

Symptoms & Phenotypes for Perrault Syndrome

MGI Mouse Phenotypes related to Perrault Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.4 CLPP CLPX DARS2 EARS2 EPRS1 ERAL1

Drugs & Therapeutics for Perrault Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan Recruiting NCT00341874

Search NIH Clinical Center for Perrault Syndrome

Genetic Tests for Perrault Syndrome

Genetic tests related to Perrault Syndrome:

# Genetic test Affiliating Genes
1 Perrault Syndrome 29

Anatomical Context for Perrault Syndrome

MalaCards organs/tissues related to Perrault Syndrome:

40
Ovary

Publications for Perrault Syndrome

Articles related to Perrault Syndrome:

(show top 50) (show all 74)
# Title Authors PMID Year
1
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. 61 24 6
26537577 2016
2
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 24 6 61
25355836 2014
3
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. 24 6 61
23541342 2013
4
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. 24 6 61
23541340 2013
5
Perrault syndrome: further evidence for genetic heterogeneity. 24 6 61
22037954 2012
6
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. 24 6 61
21464306 2011
7
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. 6 24 61
20673864 2010
8
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. 61 6
27087618 2016
9
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. 61 6
26657938 2016
10
Perrault Syndrome 61 6
25254289 2014
11
Perrault syndrome: evidence for progressive nervous system involvement. 61 6
15216544 2004
12
Perrault syndrome in sisters. 61 6
4061497 1985
13
The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. 61 6
517579 1979
14
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. 24 61
29205794 2018
15
Marfanoid habitus is a nonspecific feature of Perrault syndrome. 61 24
28832386 2017
16
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. 61 24
28830375 2017
17
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. 24 61
28449065 2017
18
Expanding the genotypic spectrum of Perrault syndrome. 24 61
26970254 2017
19
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome. 61 24
27629923 2017
20
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. 24 61
28178980 2017
21
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. 61 24
27650058 2016
22
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. 61 24
27899912 2016
23
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. 61 24
25956234 2015
24
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. 6
24553428 2014
25
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. 6
23181892 2012
26
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. 6
21660509 2011
27
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. 6
17690910 2007
28
A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects. 24
29671881 2018
29
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 24
27412952 2016
30
Audiological abnormalities in patients with Turner syndrome. 24
23824435 2013
31
Primary ovarian insufficiency. 24
20708256 2010
32
Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome. 24
17982369 2007
33
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. 24
11431692 2001
34
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. 24
9915948 1999
35
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. 61
32442335 2020
36
LARS2-Perrault syndrome: a new case report and literature review. 61
32423379 2020
37
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM). 61
32399598 2020
38
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 61
32281099 2020
39
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report. 61
32234020 2020
40
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. 61
31827252 2020
41
Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome. 61
31449985 2020
42
Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc. 61
31274036 2019
43
Broadening the phenotype of the TWNK gene associated Perrault syndrome. 61
31852434 2019
44
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders. 61
31455392 2019
45
Comprehensive analysis of syndromic hearing loss patients in Japan. 61
31427586 2019
46
[Clinical and genetic analysis of a patient with Perrault syndrome and additional neurological features]. 61
31055809 2019
47
Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea. 61
31275682 2019
48
Perrault syndrome type 3 caused by diverse molecular defects in CLPP. 61
30150665 2018
49
The Role of ClpP Protease in Bacterial Pathogenesis and Human Diseases. 61
29775273 2018
50
Unresolved questions regarding human hereditary deafness. 61
27259978 2017

Variations for Perrault Syndrome

ClinVar genetic disease variations for Perrault Syndrome:

6 (show top 50) (show all 64) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HSD17B4 NM_000414.4(HSD17B4):c.1578del (p.Phe526fs)deletion Pathogenic 582190 rs1561485663 5:118861613-118861613 5:119525918-119525918
2 HSD17B4 NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)SNV Pathogenic 655256 5:118862851-118862851 5:119527156-119527156
3 CLDN14 NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)SNV Pathogenic 4851 rs74315437 21:37833740-37833740 21:36461442-36461442
4 HSD17B4 NM_000414.4(HSD17B4):c.1147C>T (p.Gln383Ter)SNV Pathogenic 861128 5:118835186-118835186 5:119499491-119499491
5 HSD17B4 NM_000414.4(HSD17B4):c.1352del (p.Lys451fs)deletion Pathogenic 854726 5:118844853-118844853 5:119509158-119509158
6 SGO2 NM_152524.6(SGO2):c.1451_1452GA[1] (p.Glu485fs)short repeat Pathogenic 375672 rs1057519602 2:201436519-201436520 2:200571796-200571797
7 HSD17B4 NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)SNV Pathogenic/Likely pathogenic 371366 rs969485098 5:118829515-118829515 5:119493820-119493820
8 HSD17B4 NM_000414.4(HSD17B4):c.1628_1629GT[5] (p.Leu545fs)short repeat Pathogenic/Likely pathogenic 371505 rs1057517323 5:118861665-118861666 5:119525970-119525971
9 HSD17B4 NM_000414.4(HSD17B4):c.1715_1716CT[1] (p.Leu573fs)short repeat Pathogenic/Likely pathogenic 371008 rs1057516936 5:118862862-118862863 5:119527167-119527168
10 HSD17B4 NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)SNV Pathogenic/Likely pathogenic 7655 rs137853096 5:118788316-118788316 5:119452621-119452621
11 HSD17B4 NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)SNV Pathogenic/Likely pathogenic 7656 rs137853097 5:118844871-118844871 5:119509176-119509176
12 LARS2 NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)SNV Pathogenic/Likely pathogenic 55871 rs199589947 3:45537808-45537808 3:45496316-45496316
13 HSD17B4 NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter)SNV Pathogenic/Likely pathogenic 551750 rs751646311 5:118872153-118872153 5:119536458-119536458
14 LARS2 NM_015340.4(LARS2):c.457A>C (p.Asn153His)SNV Likely pathogenic 191173 rs786205560 3:45461162-45461162 3:45419670-45419670
15 HSD17B4 NC_000005.10:g.(?_119514971)_(119542004_?)deldeletion Likely pathogenic 831796 5:118850666-118877699
16 HSD17B4 NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu)SNV Likely pathogenic 859562 5:118788271-118788271 5:119452576-119452576
17 HSD17B4 NM_000414.4(HSD17B4):c.1210-8T>CSNV Conflicting interpretations of pathogenicity 227432 rs34254740 5:118837728-118837728 5:119502033-119502033
18 HSD17B4 NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)SNV Conflicting interpretations of pathogenicity 226666 rs184492796 5:118860973-118860973 5:119525278-119525278
19 HSD17B4 NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)SNV Conflicting interpretations of pathogenicity 228741 rs150326995 5:118832319-118832319 5:119496624-119496624
20 HSD17B4 NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met)SNV Conflicting interpretations of pathogenicity 286628 rs73790880 5:118861708-118861708 5:119526013-119526013
21 HSD17B4 NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)SNV Conflicting interpretations of pathogenicity 350465 rs200347945 5:118835170-118835170 5:119499475-119499475
22 HSD17B4 NM_000414.4(HSD17B4):c.1596T>C (p.His532=)SNV Conflicting interpretations of pathogenicity 350467 rs758045328 5:118861634-118861634 5:119525939-119525939
23 HSD17B4 NM_000414.4(HSD17B4):c.501A>C (p.Ala167=)SNV Conflicting interpretations of pathogenicity 501432 rs776640310 5:118814595-118814595 5:119478900-119478900
24 HSD17B4 NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val)SNV Conflicting interpretations of pathogenicity 439793 rs28943590 5:118842531-118842531 5:119506836-119506836
25 HSD17B4 NM_000414.4(HSD17B4):c.1317A>G (p.Val439=)SNV Conflicting interpretations of pathogenicity 500197 rs771922933 5:118842568-118842568 5:119506873-119506873
26 HSD17B4 NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=)SNV Conflicting interpretations of pathogenicity 594129 rs369449821 5:118842562-118842562 5:119506867-119506867
27 HSD17B4 NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu)SNV Conflicting interpretations of pathogenicity 594453 rs201767875 5:118842578-118842578 5:119506883-119506883
28 HSD17B4 NM_000414.4(HSD17B4):c.1929G>A (p.Val643=)SNV Conflicting interpretations of pathogenicity 624058 rs148189286 5:118867035-118867035 5:119531340-119531340
29 HSD17B4 NM_000414.4(HSD17B4):c.868+1deldeletion Conflicting interpretations of pathogenicity 632857 rs749532705 5:118829641-118829641 5:119493946-119493946
30 HSD17B4 NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val)SNV Uncertain significance 655470 5:118835129-118835129 5:119499434-119499434
31 HSD17B4 NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala)SNV Uncertain significance 642085 5:118862847-118862847 5:119527152-119527152
32 HSD17B4 NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe)SNV Uncertain significance 595490 rs370579120 5:118835033-118835033 5:119499338-119499338
33 HSD17B4 NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe)SNV Uncertain significance 350466 rs372898042 5:118844859-118844859 5:119509164-119509164
34 HSD17B4 NM_000414.4(HSD17B4):c.*235T>CSNV Uncertain significance 350474 rs553631151 5:118877924-118877924 5:119542229-119542229
35 HSD17B4 NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp)SNV Uncertain significance 252564 rs201455193 5:118844919-118844919 5:119509224-119509224
36 HSD17B4 NM_000414.4(HSD17B4):c.1000C>T (p.Pro334Ser)SNV Uncertain significance 845847 5:118835039-118835039 5:119499344-119499344
37 HSD17B4 NM_000414.4(HSD17B4):c.303-11T>ASNV Uncertain significance 840842 5:118811508-118811508 5:119475813-119475813
38 HSD17B4 NM_000414.4(HSD17B4):c.1008T>A (p.Ser336=)SNV Likely benign 786532 5:118835047-118835047 5:119499352-119499352
39 HSD17B4 NM_000414.4(HSD17B4):c.675T>G (p.Leu225=)SNV Likely benign 718413 5:118824939-118824939 5:119489244-119489244
40 HSD17B4 NM_000414.4(HSD17B4):c.1713A>G (p.Gln571=)SNV Likely benign 720866 5:118862860-118862860 5:119527165-119527165
41 HSD17B4 NM_000414.4(HSD17B4):c.51G>T (p.Ala17=)SNV Likely benign 742709 5:118788321-118788321 5:119452626-119452626
42 HSD17B4 NM_000414.4(HSD17B4):c.957A>G (p.Thr319=)SNV Likely benign 746315 5:118832326-118832326 5:119496631-119496631
43 HSD17B4 NM_000414.4(HSD17B4):c.1398T>G (p.Ser466=)SNV Likely benign 738695 5:118844900-118844900 5:119509205-119509205
44 HSD17B4 NM_000414.4(HSD17B4):c.666C>T (p.Val222=)SNV Likely benign 764144 5:118824930-118824930 5:119489235-119489235
45 HSD17B4 NM_000414.4(HSD17B4):c.2122-9T>CSNV Likely benign 760529 5:118877591-118877591 5:119541896-119541896
46 HSD17B4 NM_000414.4(HSD17B4):c.1681-5T>ASNV Likely benign 762085 5:118862823-118862823 5:119527128-119527128
47 HSD17B4 NM_000414.4(HSD17B4):c.1335C>A (p.Val445=)SNV Likely benign 799063 5:118844837-118844837 5:119509142-119509142
48 HSD17B4 NM_000414.4(HSD17B4):c.1710A>G (p.Gly570=)SNV Likely benign 797160 5:118862857-118862857 5:119527162-119527162
49 HSD17B4 NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=)SNV Likely benign 799805 5:118866981-118866981 5:119531286-119531286
50 HSD17B4 NM_000414.4(HSD17B4):c.1768-9C>TSNV Likely benign 797900 5:118865580-118865580 5:119529885-119529885

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:

36
# 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
13.09 SARS2 RARS2 PRORP LARS2 HARS2 HARS1
2
Show member pathways
11.52 SARS2 RARS2 LARS2 HARS2 HARS1 FARS2

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 9.77 TWNK SARS2 RARS2 PRORP LARS2 HARS2
2 mitochondrial nucleoid GO:0042645 9.43 TWNK PRORP CLPX
3 mitochondrial matrix GO:0005759 9.4 TWNK SARS2 RARS2 PRORP LARS2 HARS2
4 endopeptidase Clp complex GO:0009368 9.16 CLPX CLPP

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

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.61 SARS2 RARS2 LARS2 HARS2 HARS1 FARS2
2 mitochondrial translation GO:0032543 9.54 RARS2 LARS2 HARS1
3 tRNA aminoacylation GO:0043039 9.46 FARS2 EPRS1 EARS2 DARS2
4 histidyl-tRNA aminoacylation GO:0006427 9.32 HARS2 HARS1
5 tRNA aminoacylation for protein translation GO:0006418 9.28 SARS2 RARS2 LARS2 HARS2 HARS1 FARS2
6 glutamyl-tRNA aminoacylation GO:0006424 9.26 EPRS1 EARS2

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10 TWNK SARS2 RARS2 LARS2 HARS2 HARS1
2 nucleotide binding GO:0000166 9.93 TWNK SARS2 RARS2 LARS2 HARS2 HARS1
3 tRNA binding GO:0000049 9.62 SARS2 FARS2 EARS2 DARS2
4 ligase activity GO:0016874 9.61 SARS2 RARS2 LARS2 HARS2 HARS1 FARS2
5 ATP-dependent peptidase activity GO:0004176 9.43 CLPX CLPP
6 histidine-tRNA ligase activity GO:0004821 9.4 HARS2 HARS1
7 glutamate-tRNA ligase activity GO:0004818 9.37 EPRS1 EARS2
8 aminoacyl-tRNA ligase activity GO:0004812 9.28 SARS2 RARS2 LARS2 HARS2 HARS1 FARS2

Sources for Perrault Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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