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

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
Genes Variations 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 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:

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

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

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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 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:

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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

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Drugs & Therapeutics for Perrault Syndrome

Search Clinical Trials , 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

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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	Kosaki R...Kosaki K	29205794	2018
2	LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. ²⁵ ⁶¹ ⁶	Riley LG...Christodoulou J	26537577	2016
3	Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. ⁶¹ ²⁵ ⁶	Morino H...Kawakami H	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	Pierce SB...Levy-Lahad E	23541342	2013
5	Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. ²⁵ ⁶ ⁶¹	Jenkinson EM...Newman WG	23541340	2013
6	Perrault syndrome: further evidence for genetic heterogeneity. ⁶ ²⁵ ⁶¹	Jenkinson EM...Newman WG	22037954	2012
7	Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. ²⁵ ⁶ ⁶¹	Pierce SB...King MC	21464306	2011
8	Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. ⁶¹ ⁶ ²⁵	Pierce SB...King MC	20673864	2010
9	The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. ⁶¹ ⁶	Riley LG...Christodoulou J	32442335	2020
10	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
11	First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. ⁶ ⁶¹	Solda G...Asselta R	26657938	2016
12	Perrault syndrome: evidence for progressive nervous system involvement. ⁶ ⁶¹	Fiumara A...Opitz JM	15216544	2004
13	Perrault syndrome in sisters. ⁶¹ ⁶	McCarthy DJ...Opitz JM	4061497	1985
14	The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. ⁶¹ ⁶	Pallister PD...Opitz JM	517579	1979
15	Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients. ⁶	Zou S...Hu H	31486067	2020
16	Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. ⁶	van der Knaap MS...Mochel F	30737337	2019
17	Marfanoid habitus is a nonspecific feature of Perrault syndrome. ²⁵ ⁶¹	Zerkaoui M...Sefiani A	28832386	2017
18	A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. ²⁵ ⁶¹	Chen K...Sun YM	28830375	2017
19	A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. ²⁵ ⁶¹	Chatzispyrou IA...Plomp AS	28449065	2017
20	Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. ²⁵ ⁶¹	Oldak M...Skarzynski H	28178980	2017
21	Expanding the genotypic spectrum of Perrault syndrome. ²⁵ ⁶¹	Demain LA...Newman WG	26970254	2017
22	Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome. ⁶¹ ²⁵	Faridi R...Friedman TB	27629923	2017
23	An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. ²⁵ ⁶¹	Lerat J...Marlin S	27650058	2016
24	Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. ²⁵ ⁶¹	Theunissen TE...Smeets HJ	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	Ahmed S...Al-Aama JY	25956234	2015
26	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
27	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
28	Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. ⁶	Rehman AU...Friedman TB	21660509	2011
29	The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. ⁶	Ain Q...Riazuddin S	17690910	2007
30	A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects. ²⁵	Demain LAM...Newman WG	29671881	2018
31	The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. ²⁵	Ng YS...McFarland R	27412952	2016
32	Audiological abnormalities in patients with Turner syndrome. ²⁵	Oliveira CS...Alves C	23824435	2013
33	Primary ovarian insufficiency. ²⁵	De Vos M...Fauser BC	20708256	2010
34	Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome. ²⁵	King KA...Brewer CC	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	Spelbrink JN...Larsson C	11431692	2001
36	Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. ²⁵	van Grunsven EG...Wanders RJ	9915948	1999
37	Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss. ⁶¹	Yu J...Yang J	33228777	2020
38	Perrault syndrome: Clinical report and retrospective analysis. ⁶¹	Pan Z...Lu W	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	Tucker EJ...Sinclair AH	32399598	2020
40	Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement. ⁶¹	Ozieblo D...Oldak M	32911714	2020
41	A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? ⁶¹	Gotta F...Mandich P	32281099	2020
42	[Analysis of TWNK variant in a family affected with Perrault syndrome]. ⁶¹	Chen Z...Lyu J	32619254	2020
43	LARS2-Perrault syndrome: a new case report and literature review. ⁶¹	Carminho-Rodrigues MT...Paoloni-Giacobino A	32423379	2020
44	A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. ⁶¹	Demain LAM...Newman WG	31827252	2020
45	Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report. ⁶¹	Kume K...Kawakami H	32234020	2020
46	Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome. ⁶¹	Karstensen HG...Tranebjarg L	31449985	2020
47	Broadening the phenotype of the TWNK gene associated Perrault syndrome. ⁶¹	Fekete B...Molnar MJ	31852434	2019
48	Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc. ⁶¹	Al-Jaroudi D...AlThagafi MS	31274036	2019
49	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
50	Comprehensive analysis of syndromic hearing loss patients in Japan. ⁶¹	Ideura M...Usami SI	31427586	2019

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Genes for Perrault Syndrome

Genes related to Perrault Syndrome (9 elite genes):

(show top 50) (show all 70)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HARS2	Histidyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	819.32	Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	517579 21464306
2	HSD17B4	Hydroxysteroid 17-Beta Dehydrogenase 4	Protein Coding	812.11	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	4061497 15216544 20673864
3	LARS2	Leucyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	810.47	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	23541342
4	CLPP	Caseinolytic Mitochondrial Matrix Peptidase Proteolytic Subunit	Protein Coding	810.02	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	22037954 23541340
5	TWNK	Twinkle MtDNA Helicase	Protein Coding	809	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	25355836
6	LARS2-AS1	LARS2 Antisense RNA 1	RNA Gene	432.76	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	23541342 26537577
7	CLDN14	Claudin 14	Protein Coding	411.57	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	SGO2	Shugoshin 2	Protein Coding	406.88	Pathogenic ⁶ GeneCards inferred via : Publications (show sections)
9	ERAL1	Era Like 12S Mitochondrial RRNA Chaperone 1	Protein Coding	382.76	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
10	PRORP	Protein Only RNase P Catalytic Subunit	Protein Coding	35.29	Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
11	HARS1	Histidyl-TRNA Synthetase 1	Protein Coding	13.52	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	FOXL2	Forkhead Box L2	Protein Coding	12.43	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	GGPS1	Geranylgeranyl Diphosphate Synthase 1	Protein Coding	10.88	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	8.68	DISEASES inferred ¹⁵ ¹⁵
15	CLPX	Caseinolytic Mitochondrial Matrix Peptidase Chaperone Subunit X	Protein Coding	6.79	DISEASES inferred ¹⁵
16	RARS2	Arginyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.68	DISEASES inferred ¹⁵
17	DARS2	Aspartyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.58	DISEASES inferred ¹⁵
18	FARS2	Phenylalanyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.48	DISEASES inferred ¹⁵
19	EARS2	Glutamyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.41	DISEASES inferred ¹⁵
20	KARS1	Lysyl-TRNA Synthetase 1	Protein Coding	6.32	DISEASES inferred ¹⁵
21	MRPS22	Mitochondrial Ribosomal Protein S22	Protein Coding	6.3	DISEASES inferred ¹⁵
22	C12orf73	Chromosome 12 Open Reading Frame 73	Protein Coding	6.25	DISEASES inferred ¹⁵
23	YARS2	Tyrosyl-TRNA Synthetase 2	Protein Coding	6.22	DISEASES inferred ¹⁵
24	SARS2	Seryl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.22	DISEASES inferred ¹⁵
25	ANKRD39	Ankyrin Repeat Domain 39	Protein Coding	6.15	DISEASES inferred ¹⁵
26	NARS2	Asparaginyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.15	DISEASES inferred ¹⁵
27	PDGFRL	Platelet Derived Growth Factor Receptor Like	Protein Coding	6.1	DISEASES inferred ¹⁵
28	SPG7	SPG7 Matrix AAA Peptidase Subunit, Paraplegin	Protein Coding	6.08	DISEASES inferred ¹⁵
29	MARS2	Methionyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.02	DISEASES inferred ¹⁵
30	LONP1	Lon Peptidase 1, Mitochondrial	Protein Coding	5.99	DISEASES inferred ¹⁵
31	AARS2	Alanyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	5.9	DISEASES inferred ¹⁵
32	GARS1	Glycyl-TRNA Synthetase 1	Protein Coding	5.83	DISEASES inferred ¹⁵
33	CTNNAL1	Catenin Alpha Like 1	Protein Coding	5.83	DISEASES inferred ¹⁵
34	DHRS11	Dehydrogenase/Reductase 11	Protein Coding	5.82	DISEASES inferred ¹⁵
35	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	5.81	DISEASES inferred ¹⁵
36	MRPL44	Mitochondrial Ribosomal Protein L44	Protein Coding	5.79	DISEASES inferred ¹⁵
37	RMND1	Required For Meiotic Nuclear Division 1 Homolog	Protein Coding	5.79	DISEASES inferred ¹⁵
38	PARS2	Prolyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	5.75	DISEASES inferred ¹⁵
39	VARS2	Valyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	5.75	DISEASES inferred ¹⁵
40	AARS1	Alanyl-TRNA Synthetase 1	Protein Coding	5.74	DISEASES inferred ¹⁵
41	WARS2	Tryptophanyl TRNA Synthetase 2, Mitochondrial	Protein Coding	5.69	DISEASES inferred ¹⁵
42	ZMAT2	Zinc Finger Matrin-Type 2	Protein Coding	5.67	DISEASES inferred ¹⁵
43	PPP4R4	Protein Phosphatase 4 Regulatory Subunit 4	Protein Coding	5.64	DISEASES inferred ¹⁵
44	CUEDC1	CUE Domain Containing 1	Protein Coding	5.64	DISEASES inferred ¹⁵
45	HFM1	Helicase For Meiosis 1	Protein Coding	5.6	DISEASES inferred ¹⁵
46	PSMC3IP	PSMC3 Interacting Protein	Protein Coding	5.56	DISEASES inferred ¹⁵
47	FIGLA	Folliculogenesis Specific BHLH Transcription Factor	Protein Coding	5.54	DISEASES inferred ¹⁵
48	ACTR8	Actin Related Protein 8	Protein Coding	5.51	DISEASES inferred ¹⁵
49	TARS2	Threonyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	5.5	DISEASES inferred ¹⁵
50	MRPS34	Mitochondrial Ribosomal Protein S34	Protein Coding	5.47	DISEASES inferred ¹⁵

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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

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	RARS2 PRORP LARS2 KARS1 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	RARS2 LARS2 KARS1 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 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

Sources for Perrault Syndrome

¹ BioSystems

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⁵⁷ OMIM® (Updated 05-Mar-2021)

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⁶¹ PubMed

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia