MCID: PRR025
MIFTS: 42

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 25 20 43 58 36 29 6 15 39
Ovarian Dysgenesis with Sensorineural Deafness 20 43
Gonadal Dysgenesis, Xx Type, with Deafness 20 43
Gonadal Dysgenesis with Sensorineural Deafness, Autosomal Recessive Inheritance 43
Gonadal Dysgenesis with Auditory Dysfunction, Autosomal Recessive Inheritance 43
Xx Gonodal Dysgenesis-Hearing Loss Syndrome 58
Xx Gonodal Dysgenesis-Deafness Syndrome 58
Gonadal Dysgenesis Xx Type Deafness 71
Gonadal Dysgenesis, Xx Type 20

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

MedlinePlus Genetics : 43 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 HARS2 (Histidyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Primary bile acid biosynthesis. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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

GARD : 20 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 93)
# Related Disease Score Top Affiliating Genes
1 perrault syndrome 4 33.2 LARS2-AS1 LARS2
2 perrault syndrome 1 33.1 SGO2 PRORP LARS2-AS1 LARS2 HSD17B4 CLDN14
3 d-bifunctional protein deficiency 32.5 TWNK LARS2 HSD17B4 CLPP
4 46 xx gonadal dysgenesis 31.4 LARS2 HSD17B4 HARS2 FOXL2 EPRS1 DARS2
5 premature menopause 30.9 TWNK SGO2 LARS2 HSD17B4 FOXL2 CLPP
6 lactic acidosis 30.5 PRORP LARS2 KARS1 FARS2
7 hydrops, lactic acidosis, and sideroblastic anemia 30.4 LARS2-AS1 LARS2
8 leukodystrophy 30.4 LARS2 KARS1 HSD17B4 EPRS1 EARS2 DARS2
9 perrault syndrome 2 11.7
10 perrault syndrome 6 11.6
11 perrault syndrome 3 11.6
12 perrault syndrome 5 11.6
13 ovarian dysgenesis 1 11.6
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
15 branchiootic syndrome 1 10.5
16 sensorineural hearing loss 10.5
17 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.5 TWNK LARS2 ERAL1
18 pontocerebellar hypoplasia 10.5 RARS2 EPRS1 DARS2
19 deafness, autosomal recessive 94 10.5 LARS2 FARS2 EARS2
20 codas syndrome 10.5 PRORP ERAL1 CLPX CLPP
21 usher syndrome, type iiib 10.5 HARS2 HARS1 EPRS1
22 multiple synostoses syndrome 10.5 LARS2 HSD17B4 CLPP
23 antisynthetase syndrome 10.5 KARS1 HARS2 HARS1 EPRS1
24 deafness, autosomal recessive 89 10.5 RARS2 LARS2 KARS1 EPRS1
25 robinow syndrome 10.5 RARS2 KARS1 EPRS1
26 pontocerebellar hypoplasia, type 6 10.5 RARS2 LARS2 KARS1 DARS2
27 gonadal dysgenesis 10.5
28 charcot-marie-tooth disease, axonal, type 2u 10.4 KARS1 EPRS1
29 infantile liver failure syndrome 10.4 RARS2 EPRS1
30 robinow syndrome, autosomal recessive 1 10.4 RARS2 LARS2 KARS1 EPRS1
31 charcot-marie-tooth disease, dominant intermediate c 10.4 KARS1 EPRS1 DARS2
32 charcot-marie-tooth disease, axonal, type 2d 10.4 KARS1 EPRS1 DARS2
33 developmental and epileptic encephalopathy 29 10.4 RARS2 KARS1
34 dysphagia 10.4 TWNK EPRS1
35 mitochondrial dna depletion syndrome 4a 10.4 TWNK RARS2 FARS2 EARS2 DARS2
36 mitochondrial encephalomyopathy 10.4 TWNK LARS2 FARS2 EPRS1
37 neuronopathy, distal hereditary motor, type va 10.4 LARS2 KARS1 HARS2 HARS1 EPRS1 DARS2
38 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.4 TWNK RARS2 LARS2 EPRS1 DARS2
39 combined oxidative phosphorylation deficiency 12 10.4 RARS2 FARS2 EPRS1 EARS2 DARS2
40 charcot-marie-tooth disease, axonal, type 2n 10.4 KARS1 EPRS1
41 mitochondrial dna depletion syndrome 6 10.4 TWNK DARS2
42 bagassosis 10.4 HARS2 HARS1
43 ataxia and polyneuropathy, adult-onset 10.4
44 amenorrhea 10.4
45 charcot-marie-tooth disease, axonal, type 2e 10.4 KARS1 HARS1 EPRS1 CLPX
46 autosomal recessive disease 10.4
47 combined oxidative phosphorylation deficiency 20 10.4 RARS2 KARS1
48 autosomal dominant distal hereditary motor neuronopathy 10.3 KARS1 EPRS1
49 ovarian disease 10.3
50 mitochondrial dna depletion syndrome 5 10.3 RARS2 DARS2

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



Diseases related to Perrault Syndrome

Symptoms & Phenotypes for Perrault Syndrome

GenomeRNAi Phenotypes related to Perrault Syndrome according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.44 KARS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 9.44 KARS1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.44 FARS2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-163 9.44 HARS2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.44 KARS1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.44 HARS1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.44 HARS2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.44 KARS1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.44 HARS1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.44 FARS2 HARS1 KARS1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.44 HARS1

MGI Mouse Phenotypes related to Perrault Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.5 CLPP CLPX DARS2 EARS2 EPRS1 ERAL1

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:

# Genetic test Affiliating Genes
1 Perrault Syndrome 29

Anatomical Context for Perrault Syndrome

Publications for Perrault Syndrome

Articles related to Perrault Syndrome:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. 61 25 6
29205794 2018
2
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. 25 61 6
26537577 2016
3
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 61 25 6
25355836 2014
4
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. 61 25 6
23541342 2013
5
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. 25 6 61
23541340 2013
6
Perrault syndrome: further evidence for genetic heterogeneity. 6 25 61
22037954 2012
7
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. 25 6 61
21464306 2011
8
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. 61 6 25
20673864 2010
9
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. 61 6
32442335 2020
10
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. 61 6
27087618 2016
11
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. 6 61
26657938 2016
12
Perrault syndrome: evidence for progressive nervous system involvement. 6 61
15216544 2004
13
Perrault syndrome in sisters. 61 6
4061497 1985
14
The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. 61 6
517579 1979
15
Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients. 6
31486067 2020
16
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. 6
30737337 2019
17
Marfanoid habitus is a nonspecific feature of Perrault syndrome. 25 61
28832386 2017
18
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. 25 61
28830375 2017
19
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. 25 61
28449065 2017
20
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. 25 61
28178980 2017
21
Expanding the genotypic spectrum of Perrault syndrome. 25 61
26970254 2017
22
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome. 61 25
27629923 2017
23
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. 25 61
27650058 2016
24
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. 25 61
27899912 2016
25
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. 25 61
25956234 2015
26
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. 6
24553428 2014
27
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
28
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. 6
21660509 2011
29
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. 6
17690910 2007
30
A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects. 25
29671881 2018
31
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 25
27412952 2016
32
Audiological abnormalities in patients with Turner syndrome. 25
23824435 2013
33
Primary ovarian insufficiency. 25
20708256 2010
34
Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome. 25
17982369 2007
35
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. 25
11431692 2001
36
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. 25
9915948 1999
37
Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss. 61
33228777 2020
38
Perrault syndrome: Clinical report and retrospective analysis. 61
32767731 2020
39
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
40
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement. 61
32911714 2020
41
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 61
32281099 2020
42
[Analysis of TWNK variant in a family affected with Perrault syndrome]. 61
32619254 2020
43
LARS2-Perrault syndrome: a new case report and literature review. 61
32423379 2020
44
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. 61
31827252 2020
45
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report. 61
32234020 2020
46
Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome. 61
31449985 2020
47
Broadening the phenotype of the TWNK gene associated Perrault syndrome. 61
31852434 2019
48
Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc. 61
31274036 2019
49
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders. 61
31455392 2019
50
Comprehensive analysis of syndromic hearing loss patients in Japan. 61
31427586 2019

Variations for Perrault Syndrome

ClinVar genetic disease variations for Perrault Syndrome:

6 (show top 50) (show all 191)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HARS2 HARS2, VAL368LEU Variation Pathogenic 39621
2 CLPP NM_006012.4(CLPP):c.433A>C (p.Thr145Pro) SNV Pathogenic 55868 rs398123033 19:6364528-6364528 19:6364517-6364517
3 CLPP NM_006012.4(CLPP):c.440G>C (p.Cys147Ser) SNV Pathogenic 55869 rs398123034 19:6364535-6364535 19:6364524-6364524
4 CLPP NM_006012.4(CLPP):c.270+4A>G SNV Pathogenic 55870 rs398123035 19:6361955-6361955 19:6361944-6361944
5 LARS2-AS1 NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) SNV Pathogenic 55871 rs199589947 3:45537808-45537808 3:45496316-45496316
6 LARS2 NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) SNV Pathogenic 55872 rs398123036 3:45557610-45557610 3:45516118-45516118
7 LARS2-AS1 NM_015340.4(LARS2):c.1077del (p.Ile360fs) Deletion Pathogenic 55873 rs398123037 3:45527241-45527241 3:45485749-45485749
8 HSD17B4 NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) SNV Pathogenic 137616 rs587777442 5:118792052-118792052 5:119456357-119456357
9 HSD17B4 NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) SNV Pathogenic 137618 rs587777444 5:118860945-118860945 5:119525250-119525250
10 HSD17B4 NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) SNV Pathogenic 137619 rs201009485 5:118861666-118861666 5:119525971-119525971
11 TWNK NM_021830.5(TWNK):c.1172G>A (p.Arg391His) SNV Pathogenic 162048 rs556445621 10:102749139-102749139 10:100989382-100989382
12 TWNK NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly) SNV Pathogenic 162050 rs672601361 10:102749478-102749478 10:100989721-100989721
13 TWNK NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) SNV Pathogenic 162051 rs369588002 10:102750227-102750227 10:100990470-100990470
14 HSD17B4 NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) SNV Pathogenic 30228 rs387906825 5:118824914-118824914 5:119489219-119489219
15 HSD17B4 NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) SNV Pathogenic 655256 rs1038744864 5:118862851-118862851 5:119527156-119527156
16 CLDN14 NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) SNV Pathogenic 375673 rs74315437 21:37833740-37833740 21:36461442-36461442
17 CLPP NM_006012.4(CLPP):c.624C>G (p.Ile208Met) SNV Pathogenic 545503 rs1555719766 19:6366337-6366337 19:6366326-6366326
18 TWNK NM_021830.5(TWNK):c.874C>A (p.Pro292Thr) SNV Pathogenic 488187 rs759603316 10:102748841-102748841 10:100989084-100989084
19 HSD17B4 NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) SNV Pathogenic 7656 rs137853097 5:118844871-118844871 5:119509176-119509176
20 HSD17B4 NM_000414.4(HSD17B4):c.1578del (p.Phe526fs) Deletion Pathogenic 582190 rs1561485663 5:118861613-118861613 5:119525918-119525918
21 HSD17B4 NM_000414.4(HSD17B4):c.1628_1629GT[5] (p.Leu545fs) Microsatellite Pathogenic 371505 rs1057517323 5:118861665-118861666 5:119525970-119525971
22 HSD17B4 NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) SNV Pathogenic 551750 rs751646311 5:118872153-118872153 5:119536458-119536458
23 HSD17B4 NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) SNV Pathogenic 655256 rs1038744864 5:118862851-118862851 5:119527156-119527156
24 HSD17B4 NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) SNV Pathogenic 371366 rs969485098 5:118829515-118829515 5:119493820-119493820
25 LARS2-AS1 NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) SNV Pathogenic 55871 rs199589947 3:45537808-45537808 3:45496316-45496316
26 HSD17B4 NM_000414.4(HSD17B4):c.1715_1716CT[1] (p.Leu573fs) Microsatellite Pathogenic 371008 rs1057516936 5:118862862-118862863 5:119527167-119527168
27 HSD17B4 NM_000414.4(HSD17B4):c.1352del (p.Lys451fs) Deletion Pathogenic 854726 5:118844853-118844853 5:119509158-119509158
28 HSD17B4 NM_000414.4(HSD17B4):c.1147C>T (p.Gln383Ter) SNV Pathogenic 861128 5:118835186-118835186 5:119499491-119499491
29 HSD17B4 NM_000414.4(HSD17B4):c.1424C>G (p.Ser475Ter) SNV Pathogenic 939009 5:118844926-118844926 5:119509231-119509231
30 HSD17B4 NM_000414.4(HSD17B4):c.58+1G>C SNV Pathogenic 945823 5:118788329-118788329 5:119452634-119452634
31 HSD17B4 NM_000414.4(HSD17B4):c.1659_1660dup (p.Ser554fs) Microsatellite Pathogenic 949620 5:118861693-118861694 5:119525998-119525999
32 HSD17B4 NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) Deletion Pathogenic 504023 rs758055753 5:118832304-118832305 5:119496609-119496610
33 HARS2 NM_012208.4(HARS2):c.647G>A (p.Arg216Gln) SNV Pathogenic 982371 5:140075701-140075701 5:140696116-140696116
34 HARS2 NM_012208.4(HARS2):c.697C>T (p.Arg233Cys) SNV Pathogenic 214546 rs749799529 5:140075751-140075751 5:140696166-140696166
35 HSD17B4 NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) SNV Pathogenic 137617 rs587777443 5:118860954-118860954 5:119525259-119525259
36 TWNK NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser) SNV Pathogenic 162049 rs672601360 10:102752966-102752966 10:100993209-100993209
37 LARS2 NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys) SNV Pathogenic 203991 rs864309643 3:45557636-45557636 3:45516144-45516144
38 LARS2 NM_015340.4(LARS2):c.899C>T (p.Thr300Met) SNV Pathogenic 203990 rs864309642 3:45518000-45518000 3:45476508-45476508
39 LARS2 NM_015340.4(LARS2):c.899C>T (p.Thr300Met) SNV Pathogenic 203990 rs864309642 3:45518000-45518000 3:45476508-45476508
40 HSD17B4 NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) SNV Pathogenic 7655 rs137853096 5:118788316-118788316 5:119452621-119452621
41 LARS2 NM_015340.4(LARS2):c.371A>T (p.Asn124Ile) SNV Pathogenic 431125 rs776171893 3:45458981-45458981 3:45417489-45417489
42 LARS2 NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp) SNV Pathogenic 431124 rs774649299 3:45557711-45557711 3:45516219-45516219
43 HSD17B4 NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) SNV Pathogenic 7655 rs137853096 5:118788316-118788316 5:119452621-119452621
44 HSD17B4 NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) SNV Pathogenic 495866 rs766199971 5:118860923-118860923 5:119525228-119525228
45 LARS2 NM_015340.4(LARS2):c.880G>A (p.Glu294Lys) SNV Pathogenic 992952 3:45517981-45517981 3:45476489-45476489
46 LARS2-AS1 NM_015340.4(LARS2):c.1556C>T (p.Thr519Met) SNV Pathogenic 992953 3:45537799-45537799 3:45496307-45496307
47 LARS2 NM_015340.4(LARS2):c.683G>A (p.Arg228His) SNV Pathogenic 691519 rs770440975 3:45500311-45500311 3:45458819-45458819
48 HARS2 NM_012208.4(HARS2):c.598C>G (p.Leu200Val) SNV Pathogenic/Likely pathogenic 39620 rs397515410 5:140075395-140075395 5:140695810-140695810
49 HARS2 NM_012208.4(HARS2):c.1102G>T (p.Val368Leu) SNV Likely pathogenic 208286 rs376177973 5:140076896-140076896 5:140697311-140697311
50 PRORP NM_014672.4(PRORP):c.1454C>T (p.Ala485Val) SNV Likely pathogenic 638208 rs1169927428 14:35739636-35739636 14:35270430-35270430

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 RARS2 PRORP LARS2 KARS1 HARS2 HARS1
2
Show member pathways
11.52 RARS2 LARS2 KARS1 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 RARS2 PRORP LARS2 KARS1 HARS2
2 mitochondrial matrix GO:0005759 9.4 TWNK RARS2 PRORP LARS2 KARS1 HARS2
3 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 9.26 KARS1 EPRS1
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 RARS2 LARS2 KARS1 HARS2 HARS1 FARS2
2 tRNA processing GO:0008033 9.58 PRORP KARS1 FARS2
3 mitochondrial translation GO:0032543 9.54 RARS2 LARS2 HARS1
4 tRNA aminoacylation GO:0043039 9.46 FARS2 EPRS1 EARS2 DARS2
5 histidyl-tRNA aminoacylation GO:0006427 9.32 HARS2 HARS1
6 tRNA aminoacylation for protein translation GO:0006418 9.28 RARS2 LARS2 KARS1 HARS2 HARS1 FARS2
7 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 identical protein binding GO:0042802 10.06 TWNK KARS1 HARS2 HARS1 GGPS1 EPRS1
2 ATP binding GO:0005524 10 TWNK RARS2 LARS2 KARS1 HARS2 HARS1
3 nucleotide binding GO:0000166 9.93 TWNK RARS2 LARS2 KARS1 HARS2 HARS1
4 protein homodimerization activity GO:0042803 9.88 KARS1 HSD17B4 HARS1 EPRS1 DARS2
5 tRNA binding GO:0000049 9.62 KARS1 FARS2 EARS2 DARS2
6 ligase activity GO:0016874 9.61 RARS2 LARS2 KARS1 HARS2 HARS1 FARS2
7 ATP-dependent peptidase activity GO:0004176 9.43 CLPX CLPP
8 histidine-tRNA ligase activity GO:0004821 9.4 HARS2 HARS1
9 glutamate-tRNA ligase activity GO:0004818 9.37 EPRS1 EARS2
10 aminoacyl-tRNA ligase activity GO:0004812 9.28 RARS2 LARS2 KARS1 HARS2 HARS1 FARS2

Sources for Perrault Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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