MCID: PRR021
MIFTS: 21

Perrault Syndrome 4

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

Aliases & Classifications for Perrault Syndrome 4

MalaCards integrated aliases for Perrault Syndrome 4:

Name: Perrault Syndrome 4 57 75 29 6 73
Prlts4 57 75
Perrault Syndrome, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
perrault syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615300
UMLS 73 C3809105

Summaries for Perrault Syndrome 4

UniProtKB/Swiss-Prot : 75 Perrault syndrome 4: An autosomal recessive, 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.

MalaCards based summary : Perrault Syndrome 4, also known as prlts4, is related to perrault syndrome. An important gene associated with Perrault Syndrome 4 is LARS2 (Leucyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include uterus and ovary, and related phenotypes are premature ovarian insufficiency and primary amenorrhea

OMIM : 57 Perrault syndrome is characterized by premature ovarian failure (POF) in females and by progressive hearing loss in both females and males (summary by Pierce et al., 2013). For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (233400). (615300)

Related Diseases for Perrault Syndrome 4

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

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 9.0 LARS2 LARS2-AS1

Symptoms & Phenotypes for Perrault Syndrome 4

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, more severe at lower frequencies
upsloping audiograms

Endocrine Features:
increased gonadotropin levels (in female patients)

Genitourinary Internal Genitalia Female:
ovarian failure, premature
small ovaries
small uterus


Clinical features from OMIM:

615300

Human phenotypes related to Perrault Syndrome 4:

32
# Description HPO Frequency HPO Source Accession
1 premature ovarian insufficiency 32 HP:0008209
2 primary amenorrhea 32 HP:0000786
3 abnormality of the uterus 32 HP:0000130
4 hypoplasia of the uterus 32 HP:0000013
5 progressive hearing impairment 32 HP:0001730

Drugs & Therapeutics for Perrault Syndrome 4

Search Clinical Trials , NIH Clinical Center for Perrault Syndrome 4

Genetic Tests for Perrault Syndrome 4

Genetic tests related to Perrault Syndrome 4:

# Genetic test Affiliating Genes
1 Perrault Syndrome 4 29 LARS2

Anatomical Context for Perrault Syndrome 4

MalaCards organs/tissues related to Perrault Syndrome 4:

41
Uterus, Ovary

Publications for Perrault Syndrome 4

Variations for Perrault Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Perrault Syndrome 4:

75
# Symbol AA change Variation ID SNP ID
1 LARS2 p.Thr522Asn VAR_070094 rs199589947

ClinVar genetic disease variations for Perrault Syndrome 4:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 LARS2 NM_015340.3(LARS2): c.1565C> A (p.Thr522Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199589947 GRCh37 Chromosome 3, 45537808: 45537808
2 LARS2 NM_015340.3(LARS2): c.1565C> A (p.Thr522Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199589947 GRCh38 Chromosome 3, 45496316: 45496316
3 LARS2 NM_015340.3(LARS2): c.1886C> T (p.Thr629Met) single nucleotide variant Pathogenic rs398123036 GRCh37 Chromosome 3, 45557610: 45557610
4 LARS2 NM_015340.3(LARS2): c.1886C> T (p.Thr629Met) single nucleotide variant Pathogenic rs398123036 GRCh38 Chromosome 3, 45516118: 45516118
5 LARS2 NM_015340.3(LARS2): c.1077delT (p.Ile360Phefs) deletion Pathogenic rs398123037 GRCh37 Chromosome 3, 45527242: 45527242
6 LARS2 NM_015340.3(LARS2): c.1077delT (p.Ile360Phefs) deletion Pathogenic rs398123037 GRCh38 Chromosome 3, 45485750: 45485750
7 LARS2 NM_015340.3(LARS2): c.899C> T (p.Thr300Met) single nucleotide variant Pathogenic rs864309642 GRCh37 Chromosome 3, 45518000: 45518000
8 LARS2 NM_015340.3(LARS2): c.899C> T (p.Thr300Met) single nucleotide variant Pathogenic rs864309642 GRCh38 Chromosome 3, 45476508: 45476508
9 LARS2 NM_015340.3(LARS2): c.1912G> A (p.Glu638Lys) single nucleotide variant Pathogenic rs864309643 GRCh37 Chromosome 3, 45557636: 45557636
10 LARS2 NM_015340.3(LARS2): c.1912G> A (p.Glu638Lys) single nucleotide variant Pathogenic rs864309643 GRCh38 Chromosome 3, 45516144: 45516144
11 LARS2 NM_015340.3(LARS2): c.1692C> T (p.Ala564=) single nucleotide variant Benign/Likely benign rs149911756 GRCh38 Chromosome 3, 45500511: 45500511
12 LARS2 NM_015340.3(LARS2): c.1692C> T (p.Ala564=) single nucleotide variant Benign/Likely benign rs149911756 GRCh37 Chromosome 3, 45542003: 45542003
13 LARS2 NM_015340.3(LARS2): c.371A> T (p.Asn124Ile) single nucleotide variant Pathogenic rs776171893 GRCh37 Chromosome 3, 45458981: 45458981
14 LARS2 NM_015340.3(LARS2): c.371A> T (p.Asn124Ile) single nucleotide variant Pathogenic rs776171893 GRCh38 Chromosome 3, 45417489: 45417489
15 LARS2 NM_015340.3(LARS2): c.1987C> T (p.Arg663Trp) single nucleotide variant Pathogenic rs774649299 GRCh38 Chromosome 3, 45516219: 45516219
16 LARS2 NM_015340.3(LARS2): c.1987C> T (p.Arg663Trp) single nucleotide variant Pathogenic rs774649299 GRCh37 Chromosome 3, 45557711: 45557711
17 LARS2 NM_015340.3(LARS2): c.556C> T (p.Gln186Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 45488422: 45488422
18 LARS2 NM_015340.3(LARS2): c.556C> T (p.Gln186Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 45446930: 45446930

Expression for Perrault Syndrome 4

Search GEO for disease gene expression data for Perrault Syndrome 4.

Pathways for Perrault Syndrome 4

GO Terms for Perrault Syndrome 4

Sources for Perrault Syndrome 4

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
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49 NCI
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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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