PRLTS4
MCID: PRR021
MIFTS: 25

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 57 74 29 6 72
Prlts4 57 74
Perrault Syndrome, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
perrault syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

UMLS 72 C3809105

Summaries for Perrault Syndrome 4

UniProtKB/Swiss-Prot : 74 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 9.2 LARS2-AS1 LARS2

Symptoms & Phenotypes for Perrault Syndrome 4

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

Symptoms via clinical synopsis from OMIM:

57
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 29 LARS2

Anatomical Context for Perrault Syndrome 4

MalaCards organs/tissues related to Perrault Syndrome 4:

41
Uterus, Ovary

Publications for Perrault Syndrome 4

Articles related to Perrault Syndrome 4:

# Title Authors PMID Year
1
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. 8 71
26657938 2016
2
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. 8 71
23541342 2013
3
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. 71
26537577 2016
4
Perrault Syndrome 71
25254289 2014
5
Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc. 38
31274036 2019

Variations for Perrault Syndrome 4

ClinVar genetic disease variations for Perrault Syndrome 4:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LARS2 NM_015340.4(LARS2): c.1886C> T (p.Thr629Met) single nucleotide variant Pathogenic rs398123036 3:45557610-45557610 3:45516118-45516118
2 LARS2 NM_015340.4(LARS2): c.1077del (p.Ile360fs) deletion Pathogenic rs398123037 3:45527242-45527242 3:45485750-45485750
3 LARS2 NM_015340.4(LARS2): c.899C> T (p.Thr300Met) single nucleotide variant Pathogenic rs864309642 3:45518000-45518000 3:45476508-45476508
4 LARS2 NM_015340.4(LARS2): c.1912G> A (p.Glu638Lys) single nucleotide variant Pathogenic rs864309643 3:45557636-45557636 3:45516144-45516144
5 LARS2 NM_015340.4(LARS2): c.371A> T (p.Asn124Ile) single nucleotide variant Pathogenic rs776171893 3:45458981-45458981 3:45417489-45417489
6 LARS2 NM_015340.4(LARS2): c.1987C> T (p.Arg663Trp) single nucleotide variant Pathogenic rs774649299 3:45557711-45557711 3:45516219-45516219
7 LARS2 NM_015340.4(LARS2): c.1565C> A (p.Thr522Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199589947 3:45537808-45537808 3:45496316-45496316
8 LARS2 NM_015340.4(LARS2): c.1115C> G (p.Ser372Ter) single nucleotide variant Likely pathogenic 3:45527280-45527280 3:45485788-45485788
9 LARS2 NM_015340.4(LARS2): c.1814G> A (p.Arg605His) single nucleotide variant Uncertain significance rs142665087 3:45554680-45554680 3:45513188-45513188
10 LARS2 NM_015340.4(LARS2): c.1692C> T (p.Ala564=) single nucleotide variant Benign/Likely benign rs149911756 3:45542003-45542003 3:45500511-45500511

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

74
# Symbol AA change Variation ID SNP ID
1 LARS2 p.Thr522Asn VAR_070094 rs199589947

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....