PRLTS4
MCID: PRR021
MIFTS: 24

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 56 73 29 6 71
Prlts4 56 73
Perrault Syndrome, Type 4 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
perrault syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 615300
OMIM Phenotypic Series 56 PS233400
UMLS 71 C3809105

Summaries for Perrault Syndrome 4

UniProtKB/Swiss-Prot : 73 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, is also known as prlts4. 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 : 56 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

Symptoms & Phenotypes for Perrault Syndrome 4

Human phenotypes related to Perrault Syndrome 4:

31
# Description HPO Frequency HPO Source Accession
1 premature ovarian insufficiency 31 HP:0008209
2 primary amenorrhea 31 HP:0000786
3 abnormality of the uterus 31 HP:0000130
4 progressive hearing impairment 31 HP:0001730
5 hypoplasia of the uterus 31 HP:0000013

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
26657938 2016
2
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. 56 6
23541342 2013
3
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. 6
26537577 2016
4
Perrault Syndrome 6
25254289 2014
5
Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc. 61
31274036 2019

Variations for Perrault Syndrome 4

ClinVar genetic disease variations for Perrault Syndrome 4:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LARS2 NM_015340.4(LARS2):c.371A>T (p.Asn124Ile)SNV Pathogenic 431125 rs776171893 3:45458981-45458981 3:45417489-45417489
2 LARS2 NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp)SNV Pathogenic 431124 rs774649299 3:45557711-45557711 3:45516219-45516219
3 LARS2 NM_015340.4(LARS2):c.1886C>T (p.Thr629Met)SNV Pathogenic 55872 rs398123036 3:45557610-45557610 3:45516118-45516118
4 LARS2 NM_015340.4(LARS2):c.1077del (p.Ile360fs)deletion Pathogenic 55873 rs398123037 3:45527241-45527241 3:45485749-45485749
5 LARS2 NM_015340.4(LARS2):c.899C>T (p.Thr300Met)SNV Pathogenic 203990 rs864309642 3:45518000-45518000 3:45476508-45476508
6 LARS2 NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys)SNV Pathogenic 203991 rs864309643 3:45557636-45557636 3:45516144-45516144
7 LARS2 NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)SNV Pathogenic/Likely pathogenic 55871 rs199589947 3:45537808-45537808 3:45496316-45496316
8 LARS2 NM_015340.4(LARS2):c.440A>C (p.Gln147Pro)SNV Likely pathogenic 691523 3:45459050-45459050 3:45417558-45417558
9 LARS2 NM_015340.4(LARS2):c.1607C>T (p.Pro536Leu)SNV Likely pathogenic 691524 3:45537850-45537850 3:45496358-45496358
10 LARS2 NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter)SNV Likely pathogenic 623147 rs1559484149 3:45527280-45527280 3:45485788-45485788
11 LARS2 NM_015340.4(LARS2):c.1784C>A (p.Ala595Asp)SNV Uncertain significance 689771 3:45554650-45554650 3:45513158-45513158
12 LARS2 NM_015340.4(LARS2):c.2269A>T (p.Met757Leu)SNV Uncertain significance 689772 3:45561765-45561765 3:45520273-45520273
13 LARS2 NM_015340.4(LARS2):c.1814G>A (p.Arg605His)SNV Uncertain significance 504796 rs142665087 3:45554680-45554680 3:45513188-45513188
14 LARS2 NM_015340.4(LARS2):c.1692C>T (p.Ala564=)SNV Benign/Likely benign 226696 rs149911756 3:45542003-45542003 3:45500511-45500511

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

73
# 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
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9 Cosmic
10 dbSNP
11 DGIdb
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18 ExPASy
19 FMA
28 GO
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30 HMDB
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32 ICD10
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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