Perrault Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases
Anatomical: Reproductive diseases Ear diseases Endocrine diseases Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

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

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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

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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:

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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

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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

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Genetic Tests for Perrault Syndrome

Genetic tests related to Perrault Syndrome:

#	Genetic test	Affiliating Genes
1	Perrault Syndrome ²⁹

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Anatomical Context for Perrault Syndrome

MalaCards organs/tissues related to Perrault Syndrome:

⁴⁰

Ovary

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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	Riley LG...Christodoulou J	26537577	2016
2	Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. ²⁴ ⁶ ⁶¹	Morino H...Kawakami H	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	Pierce SB...Levy-Lahad E	23541342	2013
4	Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. ²⁴ ⁶ ⁶¹	Jenkinson EM...Newman WG	23541340	2013
5	Perrault syndrome: further evidence for genetic heterogeneity. ²⁴ ⁶ ⁶¹	Jenkinson EM...Newman WG	22037954	2012
6	Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. ²⁴ ⁶ ⁶¹	Pierce SB...King MC	21464306	2011
7	Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. ⁶ ²⁴ ⁶¹	Pierce SB...King MC	20673864	2010
8	A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. ⁶¹ ⁶	Dursun F...Kirmizibekmez H	27087618	2016
9	First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. ⁶¹ ⁶	Solda G...Asselta R	26657938	2016
10	Perrault Syndrome ⁶¹ ⁶	Newman WG...Demain LAM	25254289	2014
11	Perrault syndrome: evidence for progressive nervous system involvement. ⁶¹ ⁶	Fiumara A...Opitz JM	15216544	2004
12	Perrault syndrome in sisters. ⁶¹ ⁶	McCarthy DJ...Opitz JM	4061497	1985
13	The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. ⁶¹ ⁶	Pallister PD...Opitz JM	517579	1979
14	Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. ²⁴ ⁶¹	Kosaki R...Kosaki K	29205794	2018
15	Marfanoid habitus is a nonspecific feature of Perrault syndrome. ⁶¹ ²⁴	Zerkaoui M...Sefiani A	28832386	2017
16	A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. ⁶¹ ²⁴	Chen K...Sun YM	28830375	2017
17	A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. ²⁴ ⁶¹	Chatzispyrou IA...Plomp AS	28449065	2017
18	Expanding the genotypic spectrum of Perrault syndrome. ²⁴ ⁶¹	Demain LA...Newman WG	26970254	2017
19	Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome. ⁶¹ ²⁴	Faridi R...Friedman TB	27629923	2017
20	Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. ²⁴ ⁶¹	Oldak M...Skarzynski H	28178980	2017
21	An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. ⁶¹ ²⁴	Lerat J...Marlin S	27650058	2016
22	Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. ⁶¹ ²⁴	Theunissen TE...Smeets HJ	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	Ahmed S...Al-Aama JY	25956234	2015
24	Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. ⁶	Lines MA...Canadian Pediatric Genetic Disorders Sequencing Consortium (FORGE Canada)	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	McMillan HJ...Boycott KM	23181892	2012
26	Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. ⁶	Rehman AU...Friedman TB	21660509	2011
27	The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. ⁶	Ain Q...Riazuddin S	17690910	2007
28	A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects. ²⁴	Demain LAM...Newman WG	29671881	2018
29	The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. ²⁴	Ng YS...McFarland R	27412952	2016
30	Audiological abnormalities in patients with Turner syndrome. ²⁴	Oliveira CS...Alves C	23824435	2013
31	Primary ovarian insufficiency. ²⁴	De Vos M...Fauser BC	20708256	2010
32	Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome. ²⁴	King KA...Brewer CC	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	Spelbrink JN...Larsson C	11431692	2001
34	Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. ²⁴	van Grunsven EG...Wanders RJ	9915948	1999
35	The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. ⁶¹	Riley LG...Christodoulou J	32442335	2020
36	LARS2-Perrault syndrome: a new case report and literature review. ⁶¹	Carminho-Rodrigues MT...Paoloni-Giacobino A	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	Tucker EJ...Sinclair AH	32399598	2020
38	A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? ⁶¹	Gotta F...Mandich P	32281099	2020
39	Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report. ⁶¹	Kume K...Kawakami H	32234020	2020
40	A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. ⁶¹	Demain LAM...Newman WG	31827252	2020
41	Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome. ⁶¹	Karstensen HG...Tranebjarg L	31449985	2020
42	Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc. ⁶¹	Al-Jaroudi D...AlThagafi MS	31274036	2019
43	Broadening the phenotype of the TWNK gene associated Perrault syndrome. ⁶¹	Fekete B...Molnar MJ	31852434	2019
44	Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders. ⁶¹	Dominguez-Ruiz M...Del Castillo I	31455392	2019
45	Comprehensive analysis of syndromic hearing loss patients in Japan. ⁶¹	Ideura M...Usami SI	31427586	2019
46	[Clinical and genetic analysis of a patient with Perrault syndrome and additional neurological features]. ⁶¹	Duan X...Peng D	31055809	2019
47	Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea. ⁶¹	Roberts LM...Carnivale B	31275682	2019
48	Perrault syndrome type 3 caused by diverse molecular defects in CLPP. ⁶¹	Brodie EJ...Dougan DA	30150665	2018
49	The Role of ClpP Protease in Bacterial Pathogenesis and Human Diseases. ⁶¹	Bhandari V...Houry WA	29775273	2018
50	Unresolved questions regarding human hereditary deafness. ⁶¹	Rehman AU...Griffith AJ	27259978	2017

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Genes for Perrault Syndrome

Genes related to Perrault Syndrome (8 elite genes):

(show top 50) (show all 65)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HSD17B4	Hydroxysteroid 17-Beta Dehydrogenase 4	Protein Coding	787.02	Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	23181892 15216544 24553428 (more) 4061497 25254289 20673864
2	LARS2	Leucyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	785	Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	23541342 26657938 25254289 (more) 26537577
3	CLDN14	Claudin 14	Protein Coding	411.06	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	SGO2	Shugoshin 2	Protein Coding	406.32	Pathogenic ⁶ GeneCards inferred via : Publications (show sections)
5	HARS2	Histidyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	393.74	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
6	CLPP	Caseinolytic Mitochondrial Matrix Peptidase Proteolytic Subunit	Protein Coding	384.48	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
7	TWNK	Twinkle MtDNA Helicase	Protein Coding	383.63	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
8	ERAL1	Era Like 12S Mitochondrial RRNA Chaperone 1	Protein Coding	381.55	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
9	HARS1	Histidyl-TRNA Synthetase 1	Protein Coding	12.83	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	FOXL2	Forkhead Box L2	Protein Coding	12.04	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	PRORP	Protein Only RNase P Catalytic Subunit	Protein Coding	10.35	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
12	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	8.63	DISEASES inferred ¹⁵ ¹⁵
13	LARS2-AS1	LARS2 Antisense RNA 1	RNA Gene	7.69	GeneCards inferred via : Variants (show sections)
14	PDGFRL	Platelet Derived Growth Factor Receptor Like	Protein Coding	6.95	DISEASES inferred ¹⁵
15	CLPX	Caseinolytic Mitochondrial Matrix Peptidase Chaperone Subunit X	Protein Coding	6.85	DISEASES inferred ¹⁵
16	DARS2	Aspartyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.76	DISEASES inferred ¹⁵
17	RARS2	Arginyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.72	DISEASES inferred ¹⁵
18	SARS2	Seryl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.46	DISEASES inferred ¹⁵
19	EARS2	Glutamyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.43	DISEASES inferred ¹⁵
20	FARS2	Phenylalanyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.43	DISEASES inferred ¹⁵
21	C12orf73	Chromosome 12 Open Reading Frame 73	Protein Coding	6.31	DISEASES inferred ¹⁵
22	MRPS22	Mitochondrial Ribosomal Protein S22	Protein Coding	6.26	DISEASES inferred ¹⁵
23	YARS2	Tyrosyl-TRNA Synthetase 2	Protein Coding	6.25	DISEASES inferred ¹⁵
24	ANKRD39	Ankyrin Repeat Domain 39	Protein Coding	6.21	DISEASES inferred ¹⁵
25	KARS1	Lysyl-TRNA Synthetase 1	Protein Coding	6.2	DISEASES inferred ¹⁵
26	NARS2	Asparaginyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.19	DISEASES inferred ¹⁵
27	MARS2	Methionyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.01	DISEASES inferred ¹⁵
28	LONP1	Lon Peptidase 1, Mitochondrial	Protein Coding	5.97	DISEASES inferred ¹⁵
29	AARS2	Alanyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	5.96	DISEASES inferred ¹⁵
30	CTNNAL1	Catenin Alpha Like 1	Protein Coding	5.87	DISEASES inferred ¹⁵
31	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	5.87	DISEASES inferred ¹⁵
32	DHRS11	Dehydrogenase/Reductase 11	Protein Coding	5.86	DISEASES inferred ¹⁵
33	GARS1	Glycyl-TRNA Synthetase 1	Protein Coding	5.84	DISEASES inferred ¹⁵
34	PARS2	Prolyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	5.79	DISEASES inferred ¹⁵
35	CUEDC1	CUE Domain Containing 1	Protein Coding	5.76	DISEASES inferred ¹⁵
36	MRPL44	Mitochondrial Ribosomal Protein L44	Protein Coding	5.75	DISEASES inferred ¹⁵
37	VARS2	Valyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	5.75	DISEASES inferred ¹⁵
38	WARS2	Tryptophanyl TRNA Synthetase 2, Mitochondrial	Protein Coding	5.74	DISEASES inferred ¹⁵
39	ZMAT2	Zinc Finger Matrin-Type 2	Protein Coding	5.72	DISEASES inferred ¹⁵
40	AARS1	Alanyl-TRNA Synthetase 1	Protein Coding	5.71	DISEASES inferred ¹⁵
41	PPP4R4	Protein Phosphatase 4 Regulatory Subunit 4	Protein Coding	5.69	DISEASES inferred ¹⁵
42	SPG7	SPG7 Matrix AAA Peptidase Subunit, Paraplegin	Protein Coding	5.68	DISEASES inferred ¹⁵
43	PSMC3IP	PSMC3 Interacting Protein	Protein Coding	5.65	DISEASES inferred ¹⁵
44	FIGLA	Folliculogenesis Specific BHLH Transcription Factor	Protein Coding	5.59	DISEASES inferred ¹⁵
45	TARS2	Threonyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	5.56	DISEASES inferred ¹⁵
46	ACTR8	Actin Related Protein 8	Protein Coding	5.56	DISEASES inferred ¹⁵
47	MRPS34	Mitochondrial Ribosomal Protein S34	Protein Coding	5.51	DISEASES inferred ¹⁵
48	CEACAM16	CEA Cell Adhesion Molecule 16, Tectorial Membrane Component	Protein Coding	5.48	DISEASES inferred ¹⁵
49	MRPS16	Mitochondrial Ribosomal Protein S16	Protein Coding	5.47	DISEASES inferred ¹⁵
50	HFM1	Helicase For Meiosis 1	Protein Coding	5.45	DISEASES inferred ¹⁵

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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_?)del	deletion	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>C	SNV	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+1del	deletion	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>C	SNV	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>A	SNV	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>C	SNV	Likely benign	760529		5:118877591-118877591	5:119541896-119541896
46	HSD17B4	NM_000414.4(HSD17B4):c.1681-5T>A	SNV	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>T	SNV	Likely benign	797900		5:118865580-118865580	5:119529885-119529885

Sources

Expression for Perrault Syndrome

Search GEO for disease gene expression data for Perrault Syndrome.

Sources

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	Gene Expression ⁶⁵ Show member pathways Generic Transcription Pathway ⁶⁵	13.09	SARS2 RARS2 PRORP LARS2 HARS2 HARS1
2	tRNA Aminoacylation ⁶⁵ Show member pathways Aminoacyl-tRNA biosynthesis ³⁶ Cytosolic tRNA aminoacylation ⁶⁵ Mitochondrial tRNA aminoacylation ⁶⁵ Pyrophosphate hydrolysis ⁶⁵ SeMet incorporation into proteins ⁶⁵	11.52	SARS2 RARS2 LARS2 HARS2 HARS1 FARS2

Sources

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

Sources for Perrault Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia