MCID: PRR033
MIFTS: 16

Perrault Syndrome 6

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

Aliases & Classifications for Perrault Syndrome 6

MalaCards integrated aliases for Perrault Syndrome 6:

Name: Perrault Syndrome 6 57 12 75 29 6
Prlts6 57 75

Characteristics:

OMIM:

57
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


Classifications:



External Ids:

OMIM 57 617565
Disease Ontology 12 DOID:0080256

Summaries for Perrault Syndrome 6

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 617565

Related Diseases for Perrault Syndrome 6

Symptoms & Phenotypes for Perrault Syndrome 6

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
sensorineural deafness, progressive

Genitourinary Internal Genitalia Female:
primary or secondary amenorrhea
premature ovarian failure
streak ovaries
absence of primordial follicles
small uterus


Clinical features from OMIM:

617565

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:

41
Uterus, Ovary

Publications for Perrault Syndrome 6

Variations for Perrault Syndrome 6

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

75
# Symbol AA change Variation ID SNP ID
1 ERAL1 p.Asn236Ile VAR_079209

ClinVar genetic disease variations for Perrault Syndrome 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERAL1 NM_005702.3(ERAL1): c.707A> T (p.Asn236Ile) single nucleotide variant Pathogenic rs1131692170 GRCh38 Chromosome 17, 28858482: 28858482
2 ERAL1 NM_005702.3(ERAL1): c.707A> T (p.Asn236Ile) single nucleotide variant Pathogenic rs1131692170 GRCh37 Chromosome 17, 27185500: 27185500

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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