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

MCID: PRR025 MIFTS: 36	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 ⁵³ ²⁵ ⁵⁹ ³⁷ ²⁹ ⁶ ¹⁵ ⁴⁰

Ovarian Dysgenesis with Sensorineural Deafness ⁵³ ²⁵

Gonadal Dysgenesis, Xx Type, with Deafness ⁵³ ²⁵

Gonadal Dysgenesis with Sensorineural Deafness, Autosomal Recessive Inheritance ²⁵

Gonadal Dysgenesis with Auditory Dysfunction, Autosomal Recessive Inheritance ²⁵

Xx Gonodal Dysgenesis-Deafness Syndrome ⁵⁹

Gonadal Dysgenesis Xx Type Deafness ⁷³

Gonadal Dysgenesis, Xx Type ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

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: ³⁴

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: ⁵⁹

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

Orphanet ⁵⁹ ORPHA2855

UMLS via Orphanet ⁷⁴ C0685838

ICD10 via Orphanet ³⁴ Q87.8

KEGG ³⁷ H02095

UMLS ⁷³ C0685838

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Summaries for Perrault Syndrome

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Perrault Syndrome, also known as ovarian dysgenesis with sensorineural deafness, is related to perrault syndrome 4 and perrault syndrome 5. 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.

Disease Ontology : ¹² An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure.

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.

Wikipedia : ⁷⁶ This syndrome is inherited as an autosomal disease. It affects both males and females but the phenotype... 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 all 25)

#	Related Disease	Score	Top Affiliating Genes
1	perrault syndrome 4	34.0	LARS2 LARS2-AS1
2	perrault syndrome 5	33.9	MRPL43 TWNK
3	premature ovarian failure 1	30.0	FOXL2 LARS2 SGO2
4	perrault syndrome 2	12.5
5	perrault syndrome 1	12.4
6	perrault syndrome 3	12.4
7	perrault syndrome 6	12.4
8	ovarian dysgenesis 1	11.6
9	d-bifunctional protein deficiency	11.2
10	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.2
11	ataxia neuropathy spectrum	10.2	MRPL43 TWNK
12	charcot-marie-tooth disease, axonal, type 2w	10.2	HARS HARS2
13	neuropathy	10.1
14	mitochondrial dna depletion syndrome 7	10.1	MRPL43 TWNK
15	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	10.1	MRPL43 TWNK
16	autosomal dominant progressive external ophthalmoplegia	10.0	MRPL43 TWNK
17	muscular disease	10.0	HARS HARS2 TWNK
18	sensorineural hearing loss	10.0
19	amenorrhea	10.0
20	optic nerve disease	10.0
21	sensory peripheral neuropathy	10.0
22	growth hormone deficiency	10.0
23	usher syndrome, type iiia	9.8	CLRN1 HARS
24	usher syndrome type 2	9.7	CIB2 CLRN1 HARS
25	usher syndrome	9.7	CIB2 CLRN1 HARS

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

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Symptoms & Phenotypes for Perrault Syndrome

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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

MalaCards organs/tissues related to Perrault Syndrome:

⁴¹

Ovary

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Publications for Perrault Syndrome

Articles related to Perrault Syndrome:

(show all 37)

#	Title	Authors	Year
1	Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. ( 29205794 )	Kosaki R...Kosaki K	2018
2	Perrault syndrome type 3 caused by diverse molecular defects in CLPP. ( 30150665 )	Brodie EJ...Dougan DA	2018
3	Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. ( 28178980 )	OA8dak M....SkarA1yA8ski H.	2017
4	A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. ( 28449065 )	Chatzispyrou I.A....Plomp A.S.	2017
5	A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. ( 28830375 )	Chen K....Sun Y.M.	2017
6	Marfanoid habitus is a nonspecific feature of Perrault syndrome. ( 28832386 )	Zerkaoui M....Sefiani A.	2017
7	Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome. ( 27629923 )	Faridi R....Friedman T.B.	2016
8	Expanding the Genotypic Spectrum of Perrault syndrome. ( 26970254 )	Demain L.A....Newman W.G.	2016
9	Novel missense mutation in the CLPP gene causes Perrault Syndrome type-3 in a Turkish family. ( 27087618 )	Dursun F....KA+rmA+zA+bekmez H.	2016
10	Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. ( 27899912 )	Theunissen T.E....Smeets H.J.	2016
11	An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. ( 27650058 )	Lerat J....Marlin S.	2016
12	First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. ( 26657938 )		2016
13	Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder. ( 25741941 )	Agrawala R.K....Baliarsinha A.K.	2015
14	Perrault syndrome - a rare case report. ( 25954653 )	Sampathkumar G....Veerasigamani N.	2015
15	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. ( 25956234 )		2015
16	Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. ( 25355836 )	Morino H....Kawakami H.	2014
17	Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome. ( 25424868 )	Opitz J.M.	2014
18	Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. ( 23541342 )	Pierce S.B....Levy-Lahad E.	2013
19	Severe manifestation of Leber's hereditary optic neuropathy due to 11778G&gt;A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome. ( 23748049 )	Badura-Stronka M....KrawczyA8ski M.R.	2013
20	Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. ( 23541340 )		2013
21	Genotype and phenotype heterogeneity in perrault syndrome. ( 23332201 )		2013
22	Perrault syndrome: further evidence for genetic heterogeneity. ( 22037954 )	Jenkinson E.M....Newman W.G.	2012
23	A rare cause for primary amenorrhea: Sporadic perrault syndrome. ( 23087880 )	Ameen K.H....Pinninti R.	2012
24	Genetic pathogenesis of Perrault Syndrome. ( 24592027 )		2012
25	Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. ( 21464306 )	Pierce S.B....King M.C.	2011
26	Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. ( 20673864 )	Pierce S.B....King M.C.	2010
27	First-ever genetic link for Perrault syndrome established. ( 20979184 )		2010
28	Perrault Syndrome with progressive nervous system involvement. ( 19033811 )	Kobe C....Schmidt M.C.	2008
29	Perrault syndrome: report of four new cases, review and exclusion of candidate genes. ( 18241061 )		2008
30	Perrault syndrome with Marfanoid habitus in two siblings. ( 17868898 )	Jacob J.J....Thomas N.	2007
31	Perrault syndrome: evidence for progressive nervous system involvement. ( 15216544 )	Fiumara A....Opitz J.M.	2004
32	Sporadic Perrault syndrome. ( 15512356 )		1999
33	Neurologic anomalies of Perrault syndrome. ( 8923934 )	Gottschalk M.E....Fox L.A.	1996
34	Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome? ( 8030674 )	Linssen WH...Poels PJ	1994
35	The Perrault syndrome: clinical report and review. ( 3067578 )	Nishi Y....Kawamura I.	1988
36	Perrault syndrome in sisters. ( 4061497 )	McCarthy DJ...Opitz JM	1985
37	The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. ( 517579 )	Pallister PD...Opitz JM	1979

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Genes for Perrault Syndrome

Genes related to Perrault Syndrome (8 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	HSD17B4	Hydroxysteroid 17-Beta Dehydrogenase 4	Protein Coding	796.12	Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
2	LARS2	Leucyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	795.28	Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
3	SGO2	Shugoshin 2	Protein Coding	431.65	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
4	CLDN14	Claudin 14	Protein Coding	430.37	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
5	HARS2	Histidyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	402.2	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
6	CLPP	Caseinolytic Mitochondrial Matrix Peptidase Proteolytic Subunit	Protein Coding	394.91	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
7	TWNK	Twinkle MtDNA Helicase	Protein Coding	392.53	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
8	ERAL1	Era Like 12S Mitochondrial RRNA Chaperone 1	Protein Coding	390.59	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
9	HARS	Histidyl-TRNA Synthetase	Protein Coding	21.92	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	FOXL2	Forkhead Box L2	Protein Coding	20.84	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	PDGFRL	Platelet Derived Growth Factor Receptor Like	Protein Coding	17.2	DISEASES inferred ¹⁵
12	MRPL43	Mitochondrial Ribosomal Protein L43	Protein Coding	16.93	GeneCards inferred via : Variants (show sections)
13	CLPX	Caseinolytic Mitochondrial Matrix Peptidase Chaperone Subunit	Protein Coding	15.85	DISEASES inferred ¹⁵
14	PSMC3IP	PSMC3 Interacting Protein	Protein Coding	15.78	DISEASES inferred ¹⁵
15	CLRN1	Clarin 1	Protein Coding	15.46	DISEASES inferred ¹⁵
16	CIB2	Calcium And Integrin Binding Family Member 2	Protein Coding	15.43	DISEASES inferred ¹⁵
17	POLR1D	RNA Polymerase I And III Subunit D	Protein Coding	15.34	DISEASES inferred ¹⁵
18	LARS2-AS1	LARS2 Antisense RNA 1	RNA Gene	7.62	GeneCards inferred via : Variants (show sections)

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Variations for Perrault Syndrome

ClinVar genetic disease variations for Perrault Syndrome:

⁶ (show top 50) (show all 90)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CLDN14	NM_012130.3(CLDN14): c.254T> A (p.Val85Asp)	single nucleotide variant	Pathogenic	rs74315437	GRCh37	Chromosome 21, 37833740: 37833740
2	CLDN14	NM_012130.3(CLDN14): c.254T> A (p.Val85Asp)	single nucleotide variant	Pathogenic	rs74315437	GRCh38	Chromosome 21, 36461442: 36461442
3	HSD17B4	NM_000414.3(HSD17B4): c.46G> A (p.Gly16Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs137853096	GRCh37	Chromosome 5, 118788316: 118788316
4	HSD17B4	NM_000414.3(HSD17B4): c.46G> A (p.Gly16Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs137853096	GRCh38	Chromosome 5, 119452621: 119452621
5	HSD17B4	NM_000414.3(HSD17B4): c.1369A> T (p.Asn457Tyr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs137853097	GRCh37	Chromosome 5, 118844871: 118844871
6	HSD17B4	NM_000414.3(HSD17B4): c.1369A> T (p.Asn457Tyr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs137853097	GRCh38	Chromosome 5, 119509176: 119509176
7	LARS2	NM_015340.3(LARS2): c.1565C> A (p.Thr522Asn)	single nucleotide variant	Pathogenic/Likely pathogenic	rs199589947	GRCh37	Chromosome 3, 45537808: 45537808
8	LARS2	NM_015340.3(LARS2): c.1565C> A (p.Thr522Asn)	single nucleotide variant	Pathogenic/Likely pathogenic	rs199589947	GRCh38	Chromosome 3, 45496316: 45496316
9	HSD17B4	NM_000414.3(HSD17B4): c.1471G> A (p.Ala491Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28943591	GRCh37	Chromosome 5, 118850709: 118850709
10	HSD17B4	NM_000414.3(HSD17B4): c.1471G> A (p.Ala491Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28943591	GRCh38	Chromosome 5, 119515014: 119515014
11	HSD17B4	NM_000414.3(HSD17B4): c.1767+8T> C	single nucleotide variant	Benign/Likely benign	rs190659146	GRCh37	Chromosome 5, 118862922: 118862922
12	HSD17B4	NM_000414.3(HSD17B4): c.1767+8T> C	single nucleotide variant	Benign/Likely benign	rs190659146	GRCh38	Chromosome 5, 119527227: 119527227
13	HSD17B4	NM_000414.3(HSD17B4): c.317G> A (p.Arg106His)	single nucleotide variant	Benign	rs25640	GRCh37	Chromosome 5, 118811533: 118811533
14	HSD17B4	NM_000414.3(HSD17B4): c.317G> A (p.Arg106His)	single nucleotide variant	Benign	rs25640	GRCh38	Chromosome 5, 119475838: 119475838
15	HSD17B4	NM_000414.3(HSD17B4): c.666C> G (p.Val222=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150677536	GRCh37	Chromosome 5, 118824930: 118824930
16	HSD17B4	NM_000414.3(HSD17B4): c.666C> G (p.Val222=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150677536	GRCh38	Chromosome 5, 119489235: 119489235
17	HSD17B4	NM_000414.3(HSD17B4): c.420A> T (p.Lys140Asn)	single nucleotide variant	Benign/Likely benign	rs28943589	GRCh38	Chromosome 5, 119477487: 119477487
18	HSD17B4	NM_000414.3(HSD17B4): c.420A> T (p.Lys140Asn)	single nucleotide variant	Benign/Likely benign	rs28943589	GRCh37	Chromosome 5, 118813182: 118813182
19	HSD17B4	NM_000414.3(HSD17B4): c.875C> G (p.Thr292Ser)	single nucleotide variant	Benign/Likely benign	rs1143650	GRCh38	Chromosome 5, 119496549: 119496549
20	HSD17B4	NM_000414.3(HSD17B4): c.875C> G (p.Thr292Ser)	single nucleotide variant	Benign/Likely benign	rs1143650	GRCh37	Chromosome 5, 118832244: 118832244
21	HSD17B4	NM_000414.3(HSD17B4): c.950C> T (p.Thr317Met)	single nucleotide variant	Uncertain significance	rs150326995	GRCh37	Chromosome 5, 118832319: 118832319
22	HSD17B4	NM_000414.3(HSD17B4): c.950C> T (p.Thr317Met)	single nucleotide variant	Uncertain significance	rs150326995	GRCh38	Chromosome 5, 119496624: 119496624
23	HSD17B4	NM_000414.3(HSD17B4): c.1531T> C (p.Trp511Arg)	single nucleotide variant	Benign	rs11539471	GRCh38	Chromosome 5, 119525243: 119525243
24	HSD17B4	NM_000414.3(HSD17B4): c.1531T> C (p.Trp511Arg)	single nucleotide variant	Benign	rs11539471	GRCh37	Chromosome 5, 118860938: 118860938
25	HSD17B4	NM_000414.3(HSD17B4): c.1566T> A (p.Ser522Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs184492796	GRCh38	Chromosome 5, 119525278: 119525278
26	HSD17B4	NM_000414.3(HSD17B4): c.1566T> A (p.Ser522Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs184492796	GRCh37	Chromosome 5, 118860973: 118860973
27	HSD17B4	NM_000414.3(HSD17B4): c.1675A> G (p.Ile559Val)	single nucleotide variant	Benign	rs11205	GRCh37	Chromosome 5, 118861713: 118861713
28	HSD17B4	NM_000414.3(HSD17B4): c.1675A> G (p.Ile559Val)	single nucleotide variant	Benign	rs11205	GRCh38	Chromosome 5, 119526018: 119526018
29	HSD17B4	NM_000414.3(HSD17B4): c.1791C> T (p.Val597=)	single nucleotide variant	Benign/Likely benign	rs2560722	GRCh38	Chromosome 5, 119529917: 119529917
30	HSD17B4	NM_000414.3(HSD17B4): c.1791C> T (p.Val597=)	single nucleotide variant	Benign/Likely benign	rs2560722	GRCh37	Chromosome 5, 118865612: 118865612
31	HSD17B4	NM_000414.3(HSD17B4): c.2060C> T (p.Thr687Ile)	single nucleotide variant	Benign/Likely benign	rs28943592	GRCh37	Chromosome 5, 118872184: 118872184
32	HSD17B4	NM_000414.3(HSD17B4): c.2060C> T (p.Thr687Ile)	single nucleotide variant	Benign/Likely benign	rs28943592	GRCh38	Chromosome 5, 119536489: 119536489
33	HSD17B4	NM_000414.3(HSD17B4): c.2182A> G (p.Met728Val)	single nucleotide variant	Benign/Likely benign	rs28943594	GRCh38	Chromosome 5, 119541965: 119541965
34	HSD17B4	NM_000414.3(HSD17B4): c.2182A> G (p.Met728Val)	single nucleotide variant	Benign/Likely benign	rs28943594	GRCh37	Chromosome 5, 118877660: 118877660
35	HSD17B4	NM_000414.3(HSD17B4): c.2199C> T (p.Tyr733=)	single nucleotide variant	Benign/Likely benign	rs12714	GRCh37	Chromosome 5, 118877677: 118877677
36	HSD17B4	NM_000414.3(HSD17B4): c.2199C> T (p.Tyr733=)	single nucleotide variant	Benign/Likely benign	rs12714	GRCh38	Chromosome 5, 119541982: 119541982
37	HSD17B4	NM_000414.3(HSD17B4): c.*6A> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111671384	GRCh38	Chromosome 5, 119542000: 119542000
38	HSD17B4	NM_000414.3(HSD17B4): c.*6A> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111671384	GRCh37	Chromosome 5, 118877695: 118877695
39	HSD17B4	NM_001199291.2(HSD17B4): c.1492C> T (p.Arg498Trp)	single nucleotide variant	Uncertain significance	rs201455193	GRCh38	Chromosome 5, 119509224: 119509224
40	HSD17B4	NM_001199291.2(HSD17B4): c.1492C> T (p.Arg498Trp)	single nucleotide variant	Uncertain significance	rs201455193	GRCh37	Chromosome 5, 118844919: 118844919
41	HSD17B4	NM_000414.3(HSD17B4): c.-75C> G	single nucleotide variant	Benign	rs26180	GRCh38	Chromosome 5, 119452501: 119452501
42	HSD17B4	NM_000414.3(HSD17B4): c.-75C> G	single nucleotide variant	Benign	rs26180	GRCh37	Chromosome 5, 118788196: 118788196
43	HSD17B4	NM_000414.3(HSD17B4): c.-28C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34353289	GRCh38	Chromosome 5, 119452548: 119452548
44	HSD17B4	NM_000414.3(HSD17B4): c.-28C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34353289	GRCh37	Chromosome 5, 118788243: 118788243
45	HSD17B4	NM_000414.3(HSD17B4): c.161C> A (p.Ala54Asp)	single nucleotide variant	Uncertain significance	rs141517981	GRCh38	Chromosome 5, 119473956: 119473956
46	HSD17B4	NM_000414.3(HSD17B4): c.161C> A (p.Ala54Asp)	single nucleotide variant	Uncertain significance	rs141517981	GRCh37	Chromosome 5, 118809651: 118809651
47	HSD17B4	NM_000414.3(HSD17B4): c.1131C> T (p.Phe377=)	single nucleotide variant	Uncertain significance	rs200347945	GRCh38	Chromosome 5, 119499475: 119499475
48	HSD17B4	NM_000414.3(HSD17B4): c.1131C> T (p.Phe377=)	single nucleotide variant	Uncertain significance	rs200347945	GRCh37	Chromosome 5, 118835170: 118835170
49	HSD17B4	NM_000414.3(HSD17B4): c.1854+7T> C	single nucleotide variant	Uncertain significance	rs886059822	GRCh38	Chromosome 5, 119529987: 119529987
50	HSD17B4	NM_000414.3(HSD17B4): c.1854+7T> C	single nucleotide variant	Uncertain significance	rs886059822	GRCh37	Chromosome 5, 118865682: 118865682

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Expression for Perrault Syndrome

Search GEO for disease gene expression data for Perrault Syndrome.

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Pathways for Perrault Syndrome

Pathways related to Perrault Syndrome according to KEGG:

³⁷

#	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	tRNA Aminoacylation ⁶⁶ Show member pathways Aminoacyl-tRNA biosynthesis ³⁷ Cytosolic tRNA aminoacylation ⁶⁶ Mitochondrial tRNA aminoacylation ⁶⁶ Pyrophosphate hydrolysis ⁶⁶ SeMet incorporation into proteins ⁶⁶	11.04	HARS HARS2 LARS2

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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	9.76	CLPP CLPX ERAL1 HARS HARS2 LARS2
2	mitochondrial nucleoid	GO:0042645	9.32	CLPX TWNK
3	stereocilium	GO:0032420	9.26	CIB2 CLRN1
4	mitochondrial matrix	GO:0005759	9.1	CLPP CLPX ERAL1 HARS2 LARS2 TWNK
5	endopeptidase Clp complex	GO:0009368	8.96	CLPP CLPX

Biological processes related to Perrault Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	translation	GO:0006412	9.46	HARS HARS2 LARS2 MRPL43
2	photoreceptor cell maintenance	GO:0045494	9.32	CIB2 CLRN1
3	mitochondrial translation	GO:0032543	9.26	HARS LARS2
4	tRNA aminoacylation for protein translation	GO:0006418	9.13	HARS HARS2 LARS2
5	histidyl-tRNA aminoacylation	GO:0006427	8.62	HARS HARS2

Molecular functions related to Perrault Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ligase activity	GO:0016874	9.43	HARS HARS2 LARS2
2	ATP-dependent peptidase activity	GO:0004176	9.16	CLPP CLPX
3	aminoacyl-tRNA ligase activity	GO:0004812	9.13	HARS HARS2 LARS2
4	histidine-tRNA ligase activity	GO:0004821	8.62	HARS HARS2

Sources

Sources for Perrault Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia