MCID: PRR026
MIFTS: 25

Perrault Syndrome 5

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

Aliases & Classifications for Perrault Syndrome 5

MalaCards integrated aliases for Perrault Syndrome 5:

Name: Perrault Syndrome 5 57 75 29 6 73
Prlts5 57 75
Perrault Syndrome, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families have been reported (last curated december 2014)
onset of hearing loss in childhood (range 7 to 13 years)
onset of ataxia and neuropathy in early twenties


HPO:

32
perrault syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Perrault Syndrome 5

UniProtKB/Swiss-Prot : 75 Perrault syndrome 5: 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.

MalaCards based summary : Perrault Syndrome 5, also known as prlts5, is related to ataxia neuropathy spectrum and mitochondrial dna depletion syndrome 7, and has symptoms including ataxia An important gene associated with Perrault Syndrome 5 is TWNK (Twinkle MtDNA Helicase), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include ovary, and related phenotypes are high palate and nystagmus

Description from OMIM: 616138

Related Diseases for Perrault Syndrome 5

Graphical network of the top 20 diseases related to Perrault Syndrome 5:



Diseases related to Perrault Syndrome 5

Symptoms & Phenotypes for Perrault Syndrome 5

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
ophthalmoplegia, mild

Genitourinary Internal Genitalia Female:
primary amenorrhea
gonadal dysgenesis
streak ovaries

Neurologic Peripheral Nervous System:
sensory axonal neuropathy
hyporeflexia

Head And Neck Ears:
sensorineural hearing loss, postlingual

Laboratory Abnormalities:
increased serum lactate, mild
increased serum pyruvate, mild

Neurologic Central Nervous System:
ataxia
positive romberg sign
normal early psychomotor development
seizures (in 1 patient)
clumsy gait
more
Endocrine Features:
primary amenorrhea
hypergonadotrophic hypogonadism
lack of secondary sex characteristics

Head And Neck Mouth:
high-arched palate (1 family)

Skeletal Feet:
pes cavus (1 family)


Clinical features from OMIM:

616138

Human phenotypes related to Perrault Syndrome 5:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 high palate 32 occasional (7.5%) HP:0000218
2 nystagmus 32 HP:0000639
3 seizures 32 occasional (7.5%) HP:0001250
4 ataxia 32 HP:0001251
5 primary amenorrhea 32 HP:0000786
6 pes cavus 32 occasional (7.5%) HP:0001761
7 sensory axonal neuropathy 32 HP:0003390
8 increased serum lactate 32 HP:0002151
9 hypergonadotropic hypogonadism 32 HP:0000815
10 hyporeflexia 32 HP:0001265
11 increased serum pyruvate 32 HP:0003542
12 ophthalmoplegia 32 HP:0000602
13 gonadal dysgenesis 32 HP:0000133
14 positive romberg sign 32 HP:0002403

UMLS symptoms related to Perrault Syndrome 5:


ataxia

Drugs & Therapeutics for Perrault Syndrome 5

Search Clinical Trials , NIH Clinical Center for Perrault Syndrome 5

Genetic Tests for Perrault Syndrome 5

Genetic tests related to Perrault Syndrome 5:

# Genetic test Affiliating Genes
1 Perrault Syndrome 5 29 TWNK

Anatomical Context for Perrault Syndrome 5

MalaCards organs/tissues related to Perrault Syndrome 5:

41
Ovary

Publications for Perrault Syndrome 5

Variations for Perrault Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Perrault Syndrome 5:

75
# Symbol AA change Variation ID SNP ID
1 TWNK p.Arg391His VAR_072657 rs556445621
2 TWNK p.Trp441Gly VAR_072658 rs672601361
3 TWNK p.Val507Ile VAR_072659 rs369588002
4 TWNK p.Asn585Ser VAR_072660 rs672601360

ClinVar genetic disease variations for Perrault Syndrome 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh37 Chromosome 10, 102749139: 102749139
2 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh38 Chromosome 10, 100989382: 100989382
3 TWNK NM_021830.4(TWNK): c.1754A> G (p.Asn585Ser) single nucleotide variant Pathogenic rs672601360 GRCh38 Chromosome 10, 100993209: 100993209
4 TWNK NM_021830.4(TWNK): c.1754A> G (p.Asn585Ser) single nucleotide variant Pathogenic rs672601360 GRCh37 Chromosome 10, 102752966: 102752966
5 TWNK NM_021830.4(TWNK): c.1321T> G (p.Trp441Gly) single nucleotide variant Pathogenic rs672601361 GRCh37 Chromosome 10, 102749478: 102749478
6 TWNK NM_021830.4(TWNK): c.1321T> G (p.Trp441Gly) single nucleotide variant Pathogenic rs672601361 GRCh38 Chromosome 10, 100989721: 100989721
7 TWNK NM_021830.4(TWNK): c.1519G> A (p.Val507Ile) single nucleotide variant Uncertain significance rs369588002 GRCh37 Chromosome 10, 102750227: 102750227
8 TWNK NM_021830.4(TWNK): c.1519G> A (p.Val507Ile) single nucleotide variant Uncertain significance rs369588002 GRCh38 Chromosome 10, 100990470: 100990470

Expression for Perrault Syndrome 5

Search GEO for disease gene expression data for Perrault Syndrome 5.

Pathways for Perrault Syndrome 5

Pathways related to Perrault Syndrome 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 MRPL43 TWNK

GO Terms for Perrault Syndrome 5

Sources for Perrault Syndrome 5

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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