PRLTS4
MCID: PRR021
MIFTS: 22

Perrault Syndrome 4 (PRLTS4)

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

Aliases & Classifications for Perrault Syndrome 4

MalaCards integrated aliases for Perrault Syndrome 4:

Name: Perrault Syndrome 4 58 76 30 6 74
Prlts4 58 76
Perrault Syndrome, Type 4 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
perrault syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 615300
UMLS 74 C3809105

Summaries for Perrault Syndrome 4

UniProtKB/Swiss-Prot : 76 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 : 58 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 9.5 LARS2 LARS2-AS1

Symptoms & Phenotypes for Perrault Syndrome 4

Human phenotypes related to Perrault Syndrome 4:

33
# Description HPO Frequency HPO Source Accession
1 premature ovarian insufficiency 33 HP:0008209
2 primary amenorrhea 33 HP:0000786
3 abnormality of the uterus 33 HP:0000130
4 hypoplasia of the uterus 33 HP:0000013
5 progressive hearing impairment 33 HP:0001730

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Female:
small uterus
ovarian failure, premature
small ovaries

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

Endocrine Features:
increased gonadotropin levels (in female patients)

Clinical features from OMIM:

615300

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 30 LARS2

Anatomical Context for Perrault Syndrome 4

MalaCards organs/tissues related to Perrault Syndrome 4:

42
Uterus, Ovary

Publications for Perrault Syndrome 4

Articles related to Perrault Syndrome 4:

# Title Authors Year
1
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. ( 26537577 )
2016
2
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. ( 26657938 )
2016
3
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. ( 23541342 )
2013

Variations for Perrault Syndrome 4

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

76
# 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 20)
# 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.1814G> A (p.Arg605His) single nucleotide variant Uncertain significance rs142665087 GRCh38 Chromosome 3, 45513188: 45513188
18 LARS2 NM_015340.3(LARS2): c.1814G> A (p.Arg605His) single nucleotide variant Uncertain significance rs142665087 GRCh37 Chromosome 3, 45554680: 45554680
19 LARS2 NM_015340.4(LARS2): c.1115C> G (p.Ser372Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 45485788: 45485788
20 LARS2 NM_015340.4(LARS2): c.1115C> G (p.Ser372Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 45527280: 45527280

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 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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