MCID: PRR022
MIFTS: 18

Perrault Syndrome 2

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

Aliases & Classifications for Perrault Syndrome 2

MalaCards integrated aliases for Perrault Syndrome 2:

Name: Perrault Syndrome 2 57 75 29 13 6 73
Prlts2 57 75
Perrault Syndrome, Type 2 40

Characteristics:

OMIM:

57
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:

32
perrault syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614926
SNOMED-CT via HPO 69 258211005 60700002
UMLS 73 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)

MalaCards based summary : Perrault Syndrome 2, also known as prlts2, is related to perrault syndrome. An important gene associated with Perrault Syndrome 2 is HARS2 (Histidyl-TRNA Synthetase 2, Mitochondrial). Related phenotype is sensorineural hearing impairment.

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 9.9

Symptoms & Phenotypes for Perrault Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural

Genitourinary Internal Genitalia Female:
ovarian dysgenesis
streak gonads

Genitourinary External Genitalia Female:
immature genitalia

Endocrine Features:
amenorrhea, primary


Clinical features from OMIM:

614926

Human phenotypes related to Perrault Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

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

Publications for Perrault Syndrome 2

Articles related to Perrault Syndrome 2:

# Title Authors Year
1
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. ( 29205794 )
2018

Variations for Perrault Syndrome 2

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

75
# Symbol AA change Variation ID SNP ID
1 HARS2 p.Leu200Val VAR_069532 rs397515410
2 HARS2 p.Val368Leu VAR_069533 rs376177973

ClinVar genetic disease variations for Perrault Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HARS2 NM_012208.3(HARS2): c.598C> G (p.Leu200Val) single nucleotide variant Pathogenic/Likely pathogenic rs397515410 GRCh37 Chromosome 5, 140075395: 140075395
2 HARS2 NM_012208.3(HARS2): c.598C> G (p.Leu200Val) single nucleotide variant Pathogenic/Likely pathogenic rs397515410 GRCh38 Chromosome 5, 140695810: 140695810
3 HARS2 HARS2, VAL368LEU undetermined variant Pathogenic
4 HARS2 NM_012208.3(HARS2): c.1102G> T (p.Val368Leu) single nucleotide variant Likely pathogenic rs376177973 GRCh38 Chromosome 5, 140697311: 140697311
5 HARS2 NM_012208.3(HARS2): c.1102G> T (p.Val368Leu) single nucleotide variant Likely pathogenic rs376177973 GRCh37 Chromosome 5, 140076896: 140076896
6 HARS2 NM_001278731.1(HARS2): c.414dupC (p.Ile139Hisfs) duplication Uncertain significance rs781549967 GRCh38 Chromosome 5, 140695597: 140695597
7 HARS2 NM_001278731.1(HARS2): c.414dupC (p.Ile139Hisfs) duplication Uncertain significance rs781549967 GRCh37 Chromosome 5, 140075182: 140075182

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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