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 70
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 71 C0685838
Orphanet 58 ORPHA2855
UMLS 70 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 : 73 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 94)
# 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 30.4 PRORP LARS2-AS1 LARS2 KARS1 FARS2
7 leukodystrophy 30.4 LARS2 KARS1 HSD17B4 EPRS1 EARS2 DARS2
8 hydrops, lactic acidosis, and sideroblastic anemia 30.3 LARS2-AS1 LARS2
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 antisynthetase syndrome 10.5 KARS1 HARS2 HARS1 EPRS1
23 deafness, autosomal recessive 89 10.5 RARS2 LARS2 KARS1 EPRS1
24 multiple synostoses syndrome 10.5 LARS2 HSD17B4 CLPP
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 developmental and epileptic encephalopathy 29 10.4 RARS2 KARS1
29 robinow syndrome, autosomal recessive 1 10.4 RARS2 LARS2 KARS1 EPRS1
30 infantile liver failure syndrome 10.4 RARS2 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 charcot-marie-tooth disease, axonal, type 2u 10.4 KARS1 EPRS1
34 mitochondrial dna depletion syndrome 4a 10.4 TWNK RARS2 FARS2 EARS2 DARS2
35 mitochondrial encephalomyopathy 10.4 TWNK LARS2 FARS2 EPRS1
36 combined oxidative phosphorylation deficiency 12 10.4 RARS2 FARS2 EPRS1 EARS2 DARS2
37 charcot-marie-tooth disease, axonal, type 2n 10.4 KARS1 EPRS1
38 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.4 TWNK RARS2 LARS2 EPRS1 DARS2
39 mitochondrial dna depletion syndrome 6 10.4 TWNK DARS2
40 dysphagia 10.4 TWNK EPRS1
41 neuronopathy, distal hereditary motor, type va 10.4 LARS2 KARS1 HARS2 HARS1 FARS2 EPRS1
42 ataxia and polyneuropathy, adult-onset 10.4
43 amenorrhea 10.4
44 bagassosis 10.4 HARS2 HARS1
45 autosomal recessive disease 10.4
46 charcot-marie-tooth disease, axonal, type 2e 10.3 KARS1 HARS1 EPRS1 CLPX
47 combined oxidative phosphorylation deficiency 20 10.3 RARS2 KARS1
48 ovarian disease 10.3
49 autosomal dominant distal hereditary motor neuronopathy 10.3 KARS1 EPRS1
50 mitochondrial dna depletion syndrome 5 10.2 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 95)
# Title Authors PMID Year
1
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. 6 25 61
29205794 2018
2
Expanding the genotypic spectrum of Perrault syndrome. 61 25 6
26970254 2017
3
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. 61 6 25
26537577 2016
4
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 61 6 25
25355836 2014
5
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. 61 25 6
23541342 2013
6
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. 61 6 25
23541340 2013
7
Perrault syndrome: further evidence for genetic heterogeneity. 61 25 6
22037954 2012
8
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. 61 6 25
21464306 2011
9
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. 61 25 6
20673864 2010
10
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. 6 25
9915948 1999
11
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. 6 61
32442335 2020
12
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. 61 6
27087618 2016
13
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. 61 6
26657938 2016
14
Perrault syndrome: evidence for progressive nervous system involvement. 61 6
15216544 2004
15
Perrault syndrome in sisters. 61 6
4061497 1985
16
The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. 6 61
517579 1979
17
Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients. 6
31486067 2020
18
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. 6
30737337 2019
19
Marfanoid habitus is a nonspecific feature of Perrault syndrome. 25 61
28832386 2017
20
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. 61 25
28830375 2017
21
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. 25 61
28449065 2017
22
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome. 25 61
27629923 2017
23
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. 61 25
28178980 2017
24
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. 25 61
27650058 2016
25
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency. 6
27790638 2016
26
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. 6
27528516 2016
27
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 6
27290639 2016
28
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. 25 61
27899912 2016
29
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 6
25967389 2015
30
D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia. 6
25882080 2015
31
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 25
25956234 2015
32
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. 6
24553428 2014
33
On the molecular basis of D-bifunctional protein deficiency type III. 6
23308274 2013
34
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
35
Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants. 6
22864515 2012
36
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. 6
21660509 2011
37
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. 6
17690910 2007
38
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 6
16385454 2006
39
Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency. 6
11810648 2002
40
Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids. 6
10748062 2000
41
Yeast peroxisomal multifunctional enzyme: (3R)-hydroxyacyl-CoA dehydrogenase domains A and B are required for optimal growth on oleic acid. 6
10497229 1999
42
Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. 6
10400999 1999
43
Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV. 6
10419023 1999
44
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. 6
9482850 1998
45
A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects. 25
29671881 2018
46
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 25
27412952 2016
47
Audiological abnormalities in patients with Turner syndrome. 25
23824435 2013
48
Primary ovarian insufficiency. 25
20708256 2010
49
Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome. 25
17982369 2007
50
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

Variations for Perrault Syndrome

ClinVar genetic disease variations for Perrault Syndrome:

6 (show top 50) (show all 200)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HARS2 HARS2, VAL368LEU Variation Pathogenic 39621 GRCh37:
GRCh38:
2 CLPP NM_006012.4(CLPP):c.433A>C (p.Thr145Pro) SNV Pathogenic 55868 rs398123033 GRCh37: 19:6364528-6364528
GRCh38: 19:6364517-6364517
3 CLPP NM_006012.4(CLPP):c.440G>C (p.Cys147Ser) SNV Pathogenic 55869 rs398123034 GRCh37: 19:6364535-6364535
GRCh38: 19:6364524-6364524
4 CLPP NM_006012.4(CLPP):c.270+4A>G SNV Pathogenic 55870 rs398123035 GRCh37: 19:6361955-6361955
GRCh38: 19:6361944-6361944
5 LARS2 NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) SNV Pathogenic 55872 rs398123036 GRCh37: 3:45557610-45557610
GRCh38: 3:45516118-45516118
6 LARS2-AS1 , LARS2 NM_015340.4(LARS2):c.1077del (p.Ile360fs) Deletion Pathogenic 55873 rs398123037 GRCh37: 3:45527241-45527241
GRCh38: 3:45485749-45485749
7 HSD17B4 NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) SNV Pathogenic 137618 rs587777444 GRCh37: 5:118860945-118860945
GRCh38: 5:119525250-119525250
8 HSD17B4 NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) SNV Pathogenic 137619 rs201009485 GRCh37: 5:118861666-118861666
GRCh38: 5:119525971-119525971
9 TWNK NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly) SNV Pathogenic 162050 rs672601361 GRCh37: 10:102749478-102749478
GRCh38: 10:100989721-100989721
10 HSD17B4 NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) SNV Pathogenic 30228 rs387906825 GRCh37: 5:118824914-118824914
GRCh38: 5:119489219-119489219
11 CLPP NM_006012.4(CLPP):c.624C>G (p.Ile208Met) SNV Pathogenic 545503 rs1555719766 GRCh37: 19:6366337-6366337
GRCh38: 19:6366326-6366326
12 TWNK NM_021830.5(TWNK):c.874C>A (p.Pro292Thr) SNV Pathogenic 488187 rs759603316 GRCh37: 10:102748841-102748841
GRCh38: 10:100989084-100989084
13 HSD17B4 NM_000414.4(HSD17B4):c.1578del (p.Phe526fs) Deletion Pathogenic 582190 rs1561485663 GRCh37: 5:118861613-118861613
GRCh38: 5:119525918-119525918
14 HSD17B4 NM_000414.4(HSD17B4):c.1628_1629GT[5] (p.Leu545fs) Microsatellite Pathogenic 371505 rs1057517323 GRCh37: 5:118861665-118861666
GRCh38: 5:119525970-119525971
15 HSD17B4 NM_000414.4(HSD17B4):c.1715_1716CT[1] (p.Leu573fs) Microsatellite Pathogenic 371008 rs1057516936 GRCh37: 5:118862862-118862863
GRCh38: 5:119527167-119527168
16 HSD17B4 NM_000414.4(HSD17B4):c.1352del (p.Lys451fs) Deletion Pathogenic 854726 GRCh37: 5:118844853-118844853
GRCh38: 5:119509158-119509158
17 HSD17B4 NM_000414.4(HSD17B4):c.1147C>T (p.Gln383Ter) SNV Pathogenic 861128 GRCh37: 5:118835186-118835186
GRCh38: 5:119499491-119499491
18 HSD17B4 NM_000414.4(HSD17B4):c.1424C>G (p.Ser475Ter) SNV Pathogenic 939009 GRCh37: 5:118844926-118844926
GRCh38: 5:119509231-119509231
19 HSD17B4 NM_000414.4(HSD17B4):c.58+1G>C SNV Pathogenic 945823 GRCh37: 5:118788329-118788329
GRCh38: 5:119452634-119452634
20 HSD17B4 NM_000414.4(HSD17B4):c.1659_1660dup (p.Ser554fs) Microsatellite Pathogenic 949620 GRCh37: 5:118861693-118861694
GRCh38: 5:119525998-119525999
21 LARS2 NM_015340.4(LARS2):c.880G>A (p.Glu294Lys) SNV Pathogenic 992952 GRCh37: 3:45517981-45517981
GRCh38: 3:45476489-45476489
22 LARS2-AS1 , LARS2 NM_015340.4(LARS2):c.1556C>T (p.Thr519Met) SNV Pathogenic 992953 GRCh37: 3:45537799-45537799
GRCh38: 3:45496307-45496307
23 TWNK NM_021830.5(TWNK):c.1172G>A (p.Arg391His) SNV Pathogenic 162048 rs556445621 GRCh37: 10:102749139-102749139
GRCh38: 10:100989382-100989382
24 HSD17B4 NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) SNV Pathogenic 655256 rs1038744864 GRCh37: 5:118862851-118862851
GRCh38: 5:119527156-119527156
25 HSD17B4 NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) SNV Pathogenic 551750 rs751646311 GRCh37: 5:118872153-118872153
GRCh38: 5:119536458-119536458
26 HSD17B4 NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) SNV Pathogenic 655256 rs1038744864 GRCh37: 5:118862851-118862851
GRCh38: 5:119527156-119527156
27 CLDN14 NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) SNV Pathogenic 375673 rs74315437 GRCh37: 21:37833740-37833740
GRCh38: 21:36461442-36461442
28 LARS2-AS1 , LARS2 NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) SNV Pathogenic 55871 rs199589947 GRCh37: 3:45537808-45537808
GRCh38: 3:45496316-45496316
29 TWNK NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) SNV Pathogenic 162051 rs369588002 GRCh37: 10:102750227-102750227
GRCh38: 10:100990470-100990470
30 HARS2 NM_012208.4(HARS2):c.647G>A (p.Arg216Gln) SNV Pathogenic 982371 GRCh37: 5:140075701-140075701
GRCh38: 5:140696116-140696116
31 HSD17B4 NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) SNV Pathogenic 7656 rs137853097 GRCh37: 5:118844871-118844871
GRCh38: 5:119509176-119509176
32 LARS2-AS1 , LARS2 NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) SNV Pathogenic 55871 rs199589947 GRCh37: 3:45537808-45537808
GRCh38: 3:45496316-45496316
33 HSD17B4 NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) Deletion Pathogenic 504023 rs758055753 GRCh37: 5:118832304-118832305
GRCh38: 5:119496609-119496610
34 HSD17B4 NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) SNV Pathogenic 137616 rs587777442 GRCh37: 5:118792052-118792052
GRCh38: 5:119456357-119456357
35 HSD17B4 NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) SNV Pathogenic 7655 rs137853096 GRCh37: 5:118788316-118788316
GRCh38: 5:119452621-119452621
36 HSD17B4 NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) SNV Pathogenic 7655 rs137853096 GRCh37: 5:118788316-118788316
GRCh38: 5:119452621-119452621
37 HARS2 NM_012208.4(HARS2):c.697C>T (p.Arg233Cys) SNV Pathogenic 214546 rs749799529 GRCh37: 5:140075751-140075751
GRCh38: 5:140696166-140696166
38 HSD17B4 NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) SNV Pathogenic 371366 rs969485098 GRCh37: 5:118829515-118829515
GRCh38: 5:119493820-119493820
39 HSD17B4 NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) SNV Pathogenic 137617 rs587777443 GRCh37: 5:118860954-118860954
GRCh38: 5:119525259-119525259
40 TWNK NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser) SNV Pathogenic 162049 rs672601360 GRCh37: 10:102752966-102752966
GRCh38: 10:100993209-100993209
41 LARS2 NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys) SNV Pathogenic 203991 rs864309643 GRCh37: 3:45557636-45557636
GRCh38: 3:45516144-45516144
42 LARS2 NM_015340.4(LARS2):c.899C>T (p.Thr300Met) SNV Pathogenic 203990 rs864309642 GRCh37: 3:45518000-45518000
GRCh38: 3:45476508-45476508
43 LARS2 NM_015340.4(LARS2):c.899C>T (p.Thr300Met) SNV Pathogenic 203990 rs864309642 GRCh37: 3:45518000-45518000
GRCh38: 3:45476508-45476508
44 LARS2 NM_015340.4(LARS2):c.371A>T (p.Asn124Ile) SNV Pathogenic 431125 rs776171893 GRCh37: 3:45458981-45458981
GRCh38: 3:45417489-45417489
45 LARS2 NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp) SNV Pathogenic 431124 rs774649299 GRCh37: 3:45557711-45557711
GRCh38: 3:45516219-45516219
46 HSD17B4 NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) SNV Pathogenic 495866 rs766199971 GRCh37: 5:118860923-118860923
GRCh38: 5:119525228-119525228
47 LARS2 NM_015340.4(LARS2):c.683G>A (p.Arg228His) SNV Pathogenic 691519 rs770440975 GRCh37: 3:45500311-45500311
GRCh38: 3:45458819-45458819
48 LARS2 NM_015340.4(LARS2):c.2402del (p.Ala801fs) Deletion Pathogenic 1027974 GRCh37: 3:45565598-45565598
GRCh38: 3:45524106-45524106
49 HARS2 NM_012208.4(HARS2):c.598C>G (p.Leu200Val) SNV Pathogenic/Likely pathogenic 39620 rs397515410 GRCh37: 5:140075395-140075395
GRCh38: 5:140695810-140695810
50 HARS2 NM_012208.4(HARS2):c.1102G>T (p.Val368Leu) SNV Likely pathogenic 208286 rs376177973 GRCh37: 5:140076896-140076896
GRCh38: 5:140697311-140697311

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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