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 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:

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 ⁷¹ C0685838

Orphanet ⁵⁸ ORPHA2855

UMLS ⁷⁰ 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 : ⁷³ 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 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:

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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 95)

#	Title	Authors	PMID	Year
1	Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. ⁶ ²⁵ ⁶¹	Kosaki R...Kosaki K	29205794	2018
2	Expanding the genotypic spectrum of Perrault syndrome. ⁶¹ ²⁵ ⁶	Demain LA...Newman WG	26970254	2017
3	LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. ⁶¹ ⁶ ²⁵	Riley LG...Christodoulou J	26537577	2016
4	Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. ⁶¹ ⁶ ²⁵	Morino H...Kawakami H	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	Pierce SB...Levy-Lahad E	23541342	2013
6	Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. ⁶¹ ⁶ ²⁵	Jenkinson EM...Newman WG	23541340	2013
7	Perrault syndrome: further evidence for genetic heterogeneity. ⁶¹ ²⁵ ⁶	Jenkinson EM...Newman WG	22037954	2012
8	Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. ⁶¹ ⁶ ²⁵	Pierce SB...King MC	21464306	2011
9	Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. ⁶¹ ²⁵ ⁶	Pierce SB...King MC	20673864	2010
10	Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. ⁶ ²⁵	van Grunsven EG...Wanders RJ	9915948	1999
11	The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. ⁶ ⁶¹	Riley LG...Christodoulou J	32442335	2020
12	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
13	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
14	Perrault syndrome: evidence for progressive nervous system involvement. ⁶¹ ⁶	Fiumara A...Opitz JM	15216544	2004
15	Perrault syndrome in sisters. ⁶¹ ⁶	McCarthy DJ...Opitz JM	4061497	1985
16	The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. ⁶ ⁶¹	Pallister PD...Opitz JM	517579	1979
17	Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients. ⁶	Zou S...Hu H	31486067	2020
18	Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. ⁶	van der Knaap MS...Mochel F	30737337	2019
19	Marfanoid habitus is a nonspecific feature of Perrault syndrome. ²⁵ ⁶¹	Zerkaoui M...Sefiani A	28832386	2017
20	A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. ⁶¹ ²⁵	Chen K...Sun YM	28830375	2017
21	A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. ²⁵ ⁶¹	Chatzispyrou IA...Plomp AS	28449065	2017
22	Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome. ²⁵ ⁶¹	Faridi R...Friedman TB	27629923	2017
23	Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. ⁶¹ ²⁵	Oldak M...Skarzynski H	28178980	2017
24	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
25	Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency. ⁶	Amor DJ...Lockhart PJ	27790638	2016
26	Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. ⁶	Marelli C...Koenig M	27528516	2016
27	New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. ⁶	Pronicka E...Ploski R	27290639	2016
28	Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. ²⁵ ⁶¹	Theunissen TE...Smeets HJ	27899912	2016
29	Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. ⁶	Konkolova J...Bohmer D	25967389	2015
30	D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia. ⁶	Nascimento J...Garrido C	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	Ahmed S...Al-Aama JY	25956234	2015
32	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
33	On the molecular basis of D-bifunctional protein deficiency type III. ⁶	Mehtala ML...Glumoff T	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	McMillan HJ...Boycott KM	23181892	2012
35	Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants. ⁶	Tsuchida S...Aoki T	22864515	2012
36	Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. ⁶	Rehman AU...Friedman TB	21660509	2011
37	The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. ⁶	Ain Q...Riazuddin S	17690910	2007
38	Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. ⁶	Ferdinandusse S...Glumoff T	16385454	2006
39	Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency. ⁶	Paton BC...Fietz MJ	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	Baes M...Van Veldhoven PP	10748062	2000
41	Yeast peroxisomal multifunctional enzyme: (3R)-hydroxyacyl-CoA dehydrogenase domains A and B are required for optimal growth on oleic acid. ⁶	Qin YM...Hiltunen JK	10497229	1999
42	Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. ⁶	van Grunsven EG...Wanders RJ	10400999	1999
43	Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV. ⁶	Moller G...Adamski J	10419023	1999
44	Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. ⁶	van Grunsven EG...Wanders RJ	9482850	1998
45	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
46	The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. ²⁵	Ng YS...McFarland R	27412952	2016
47	Audiological abnormalities in patients with Turner syndrome. ²⁵	Oliveira CS...Alves C	23824435	2013
48	Primary ovarian insufficiency. ²⁵	De Vos M...Fauser BC	20708256	2010
49	Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome. ²⁵	King KA...Brewer CC	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	Spelbrink JN...Larsson C	11431692	2001

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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	819.16	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	812.07	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	4061497 15216544 20673864 (more) 10748062
3	LARS2	Leucyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	810.38	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	809.89	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	808.81	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	441.26	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Publications Variants (show sections)	23541342
7	CLDN14	Claudin 14	Protein Coding	411.41	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	SGO2	Shugoshin 2	Protein Coding	406.72	Pathogenic ⁶ GeneCards inferred via : Publications (show sections)
9	ERAL1	Era Like 12S Mitochondrial RRNA Chaperone 1	Protein Coding	382.93	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	28449065
10	PRORP	Protein Only RNase P Catalytic Subunit	Protein Coding	35.24	Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
11	HARS1	Histidyl-TRNA Synthetase 1	Protein Coding	13.36	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	FOXL2	Forkhead Box L2	Protein Coding	12.26	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	GGPS1	Geranylgeranyl Diphosphate Synthase 1	Protein Coding	10.71	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	8.67	DISEASES inferred ¹⁵ ¹⁵
15	CLPX	Caseinolytic Mitochondrial Matrix Peptidase Chaperone Subunit X	Protein Coding	6.78	DISEASES inferred ¹⁵
16	RARS2	Arginyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.67	DISEASES inferred ¹⁵
17	DARS2	Aspartyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.57	DISEASES inferred ¹⁵
18	FARS2	Phenylalanyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.47	DISEASES inferred ¹⁵
19	EARS2	Glutamyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	6.4	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	6.24	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	6.21	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	6.14	DISEASES inferred ¹⁵
27	PDGFRL	Platelet Derived Growth Factor Receptor Like	Protein Coding	6.09	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	5.98	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	5.82	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	RMND1	Required For Meiotic Nuclear Division 1 Homolog	Protein Coding	5.79	DISEASES inferred ¹⁵
37	MRPL44	Mitochondrial Ribosomal Protein L44	Protein Coding	5.76	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	5.74	DISEASES inferred ¹⁵
40	AARS1	Alanyl-TRNA Synthetase 1	Protein Coding	5.73	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	5.66	DISEASES inferred ¹⁵
43	CUEDC1	CUE Domain Containing 1	Protein Coding	5.64	DISEASES inferred ¹⁵
44	PPP4R4	Protein Phosphatase 4 Regulatory Subunit 4	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	5.5	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 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

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

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