PRLTS6
MCID: PRR033
MIFTS: 20

Perrault Syndrome 6 (PRLTS6)

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

Aliases & Classifications for Perrault Syndrome 6

MalaCards integrated aliases for Perrault Syndrome 6:

Name: Perrault Syndrome 6 57 12 73 29 6
Prlts6 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of hearing loss at birth or in early childhood
affected males exhibit only sensorineural deafness
affected females may also show underdeveloped secondary sexual characteristics


HPO:

31
perrault syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080256
OMIM® 57 617565
OMIM Phenotypic Series 57 PS233400

Summaries for Perrault Syndrome 6

UniProtKB/Swiss-Prot : 73 Perrault syndrome 6: A form of Perrault syndrome, 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. PRLTS6 inheritance is autosomal recessive.

MalaCards based summary : Perrault Syndrome 6, is also known as prlts6. An important gene associated with Perrault Syndrome 6 is ERAL1 (Era Like 12S Mitochondrial RRNA Chaperone 1). Affiliated tissues include uterus and ovary, and related phenotypes are sensorineural hearing impairment and primary amenorrhea

Disease Ontology : 12 A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has material basis in homozygous mutation in the ERAL1 gene on chromosome 17q11.

OMIM® : 57 Perrault syndrome-6 (PRTLS6) is an autosomal recessive disorder characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility (summary by Chatzispyrou et al., 2017). (617565) (Updated 05-Mar-2021)

Related Diseases for Perrault Syndrome 6

Symptoms & Phenotypes for Perrault Syndrome 6

Human phenotypes related to Perrault Syndrome 6:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 very rare (1%) HP:0000407
2 primary amenorrhea 31 very rare (1%) HP:0000786
3 secondary amenorrhea 31 very rare (1%) HP:0000869
4 streak ovary 31 very rare (1%) HP:0010464
5 hypoplasia of the uterus 31 very rare (1%) HP:0000013
6 premature ovarian insufficiency 31 HP:0008209
7 irregular menstruation 31 HP:0000858

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Internal Genitalia Female:
small uterus
premature ovarian failure
streak ovaries
primary or secondary amenorrhea
absence of primordial follicles

Head And Neck Ears:
sensorineural deafness, progressive

Clinical features from OMIM®:

617565 (Updated 05-Mar-2021)

Drugs & Therapeutics for Perrault Syndrome 6

Search Clinical Trials , NIH Clinical Center for Perrault Syndrome 6

Genetic Tests for Perrault Syndrome 6

Genetic tests related to Perrault Syndrome 6:

# Genetic test Affiliating Genes
1 Perrault Syndrome 6 29 ERAL1

Anatomical Context for Perrault Syndrome 6

MalaCards organs/tissues related to Perrault Syndrome 6:

40
Uterus, Ovary

Publications for Perrault Syndrome 6

Articles related to Perrault Syndrome 6:

# Title Authors PMID Year
1
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. 57 6
28449065 2017

Variations for Perrault Syndrome 6

ClinVar genetic disease variations for Perrault Syndrome 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERAL1 NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile) SNV Pathogenic 430638 rs1131692170 17:27185500-27185500 17:28858482-28858482

UniProtKB/Swiss-Prot genetic disease variations for Perrault Syndrome 6:

73
# Symbol AA change Variation ID SNP ID
1 ERAL1 p.Asn236Ile VAR_079209 rs113169217

Expression for Perrault Syndrome 6

Search GEO for disease gene expression data for Perrault Syndrome 6.

Pathways for Perrault Syndrome 6

GO Terms for Perrault Syndrome 6

Sources for Perrault Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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