PRLTS2
MCID: PRR022
MIFTS: 25

Perrault Syndrome 2 (PRLTS2)

Categories: Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Perrault Syndrome 2

MalaCards integrated aliases for Perrault Syndrome 2:

Name: Perrault Syndrome 2 57 72 29 13 6 70
Prlts2 57 72
Perrault Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of deafness in early childhood
affected females are infertile
affected males have normal pubertal development and are fertile
one family has been reported (last curated november 2012)


HPO:

31
perrault syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614926
OMIM Phenotypic Series 57 PS233400
SNOMED-CT via HPO 68 258211005 60700002 70550008
UMLS 70 C3554105

Summaries for Perrault Syndrome 2

OMIM® : 57 Perrault syndrome-2 is an autosomal recessive disorder characterized by sensorineural deafness in both males and females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile (summary by Pierce et al., 2011). For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (233400). (614926) (Updated 20-May-2021)

MalaCards based summary : Perrault Syndrome 2, also known as prlts2, is related to ataxia and polyneuropathy, adult-onset and perrault syndrome 4. An important gene associated with Perrault Syndrome 2 is HARS2 (Histidyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include ovary, and related phenotypes are sensorineural hearing impairment and streak ovary

UniProtKB/Swiss-Prot : 72 Perrault syndrome 2: A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.

Related Diseases for Perrault Syndrome 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.0
2 perrault syndrome 4 10.0
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
4 perrault syndrome 10.0
5 pervasive developmental disorder 10.0
6 sensorineural hearing loss 10.0
7 ovarian disease 10.0
8 amenorrhea 10.0
9 peripheral nervous system disease 10.0
10 neuropathy 10.0
11 learning disability 10.0

Graphical network of the top 20 diseases related to Perrault Syndrome 2:



Diseases related to Perrault Syndrome 2

Symptoms & Phenotypes for Perrault Syndrome 2

Human phenotypes related to Perrault Syndrome 2:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 very rare (1%) HP:0000407
2 streak ovary 31 very rare (1%) HP:0010464
3 amenorrhea 31 very rare (1%) HP:0000141

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
hearing loss, sensorineural

Genitourinary Internal Genitalia Female:
ovarian dysgenesis
streak gonads

Endocrine Features:
amenorrhea, primary

Genitourinary External Genitalia Female:
immature genitalia

Clinical features from OMIM®:

614926 (Updated 20-May-2021)

Drugs & Therapeutics for Perrault Syndrome 2

Search Clinical Trials , NIH Clinical Center for Perrault Syndrome 2

Genetic Tests for Perrault Syndrome 2

Genetic tests related to Perrault Syndrome 2:

# Genetic test Affiliating Genes
1 Perrault Syndrome 2 29 HARS2

Anatomical Context for Perrault Syndrome 2

MalaCards organs/tissues related to Perrault Syndrome 2:

40
Ovary

Publications for Perrault Syndrome 2

Articles related to Perrault Syndrome 2:

# Title Authors PMID Year
1
Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients. 6 57
31486067 2020
2
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. 6 57
21464306 2011
3
The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. 6 57
517579 1979
4
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. 61
29205794 2018

Variations for Perrault Syndrome 2

ClinVar genetic disease variations for Perrault Syndrome 2:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HARS2 NM_012208.4(HARS2):c.647G>A (p.Arg216Gln) SNV Pathogenic 982371 GRCh37: 5:140075701-140075701
GRCh38: 5:140696116-140696116
2 HARS2 NM_012208.4(HARS2):c.697C>T (p.Arg233Cys) SNV Pathogenic 214546 rs749799529 GRCh37: 5:140075751-140075751
GRCh38: 5:140696166-140696166
3 HARS2 HARS2, VAL368LEU Variation Pathogenic 39621 GRCh37:
GRCh38:
4 HARS2 NM_012208.4(HARS2):c.598C>G (p.Leu200Val) SNV Pathogenic/Likely pathogenic 39620 rs397515410 GRCh37: 5:140075395-140075395
GRCh38: 5:140695810-140695810
5 HARS2 NM_012208.4(HARS2):c.259C>T (p.Arg87Cys) SNV Likely pathogenic 633640 rs754069818 GRCh37: 5:140073595-140073595
GRCh38: 5:140694010-140694010
6 HARS2 NM_012208.4(HARS2):c.980G>A (p.Arg327Gln) SNV Likely pathogenic 633639 rs778499309 GRCh37: 5:140076774-140076774
GRCh38: 5:140697189-140697189
7 HARS2 NM_012208.4(HARS2):c.137T>A (p.Leu46Gln) SNV Likely pathogenic 633638 rs1562047621 GRCh37: 5:140073204-140073204
GRCh38: 5:140693619-140693619
8 HARS2 NM_012208.4(HARS2):c.448C>T (p.Arg150Cys) SNV Likely pathogenic 214543 rs140540222 GRCh37: 5:140075141-140075141
GRCh38: 5:140695556-140695556
9 HARS2 NM_012208.4(HARS2):c.172A>G (p.Lys58Glu) SNV Likely pathogenic 214542 rs201392711 GRCh37: 5:140073239-140073239
GRCh38: 5:140693654-140693654
10 HARS2 NM_012208.4(HARS2):c.1102G>T (p.Val368Leu) SNV Likely pathogenic 208286 rs376177973 GRCh37: 5:140076896-140076896
GRCh38: 5:140697311-140697311
11 HARS2 NM_012208.4(HARS2):c.489dup (p.Ile164fs) Duplication Uncertain significance 225386 rs781549967 GRCh37: 5:140075180-140075181
GRCh38: 5:140695595-140695596

UniProtKB/Swiss-Prot genetic disease variations for Perrault Syndrome 2:

72
# Symbol AA change Variation ID SNP ID
1 HARS2 p.Leu200Val VAR_069532 rs397515410
2 HARS2 p.Val368Leu VAR_069533 rs376177973

Expression for Perrault Syndrome 2

Search GEO for disease gene expression data for Perrault Syndrome 2.

Pathways for Perrault Syndrome 2

GO Terms for Perrault Syndrome 2

Sources for Perrault Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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