PRLTS5
MCID: PRR026
MIFTS: 22

Perrault Syndrome 5 (PRLTS5)

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

Aliases & Classifications for Perrault Syndrome 5

MalaCards integrated aliases for Perrault Syndrome 5:

Name: Perrault Syndrome 5 57 72 29 6 70
Prlts5 57 72
Perrault Syndrome, Type 5 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
perrault syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Perrault Syndrome 5

UniProtKB/Swiss-Prot : 72 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, is also known as prlts5, and has symptoms including ataxia An important gene associated with Perrault Syndrome 5 is TWNK (Twinkle MtDNA Helicase). Related phenotypes are high palate and pes cavus

More information from OMIM: 616138 PS233400

Related Diseases for Perrault Syndrome 5

Symptoms & Phenotypes for Perrault Syndrome 5

Human phenotypes related to Perrault Syndrome 5:

31 (showing 15, show less)
# Description HPO Frequency HPO Source Accession
1 high palate 31 occasional (7.5%) HP:0000218
2 pes cavus 31 occasional (7.5%) HP:0001761
3 seizure 31 occasional (7.5%) HP:0001250
4 nystagmus 31 HP:0000639
5 ataxia 31 HP:0001251
6 primary amenorrhea 31 HP:0000786
7 elevated serum creatine kinase 31 HP:0003236
8 ophthalmoplegia 31 HP:0000602
9 increased serum lactate 31 HP:0002151
10 hyporeflexia 31 HP:0001265
11 positive romberg sign 31 HP:0002403
12 increased serum pyruvate 31 HP:0003542
13 hypergonadotropic hypogonadism 31 HP:0000815
14 gonadal dysgenesis 31 HP:0000133
15 sensory axonal neuropathy 31 HP:0003390

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
ophthalmoplegia, mild

Genitourinary Internal Genitalia Female:
primary amenorrhea
gonadal dysgenesis
streak ovaries

Neurologic Peripheral Nervous System:
hyporeflexia
sensory axonal neuropathy

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

Skeletal Feet:
pes cavus (1 family)

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

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

Head And Neck Ears:
sensorineural hearing loss, postlingual

Clinical features from OMIM®:

616138 (Updated 20-May-2021)

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

Publications for Perrault Syndrome 5

Articles related to Perrault Syndrome 5:

(showing 2, show less)
# Title Authors PMID Year
1
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 6 57
25355836 2014
2
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report. 61
32234020 2020

Variations for Perrault Syndrome 5

ClinVar genetic disease variations for Perrault Syndrome 5:

6 (showing 7, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TWNK NM_021830.5(TWNK):c.1172G>A (p.Arg391His) SNV Pathogenic 162048 rs556445621 GRCh37: 10:102749139-102749139
GRCh38: 10:100989382-100989382
2 TWNK NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly) SNV Pathogenic 162050 rs672601361 GRCh37: 10:102749478-102749478
GRCh38: 10:100989721-100989721
3 TWNK NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) SNV Pathogenic 162051 rs369588002 GRCh37: 10:102750227-102750227
GRCh38: 10:100990470-100990470
4 TWNK NM_021830.5(TWNK):c.874C>A (p.Pro292Thr) SNV Pathogenic 488187 rs759603316 GRCh37: 10:102748841-102748841
GRCh38: 10:100989084-100989084
5 TWNK NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser) SNV Pathogenic 162049 rs672601360 GRCh37: 10:102752966-102752966
GRCh38: 10:100993209-100993209
6 TWNK NM_021830.5(TWNK):c.737A>G (p.Asn246Ser) SNV Likely pathogenic 214174 rs754081544 GRCh37: 10:102748704-102748704
GRCh38: 10:100988947-100988947
7 TWNK NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) SNV Uncertain significance 694394 rs764669712 GRCh37: 10:102748760-102748760
GRCh38: 10:100989003-100989003

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

72 (showing 4, show less)
# 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

Expression for Perrault Syndrome 5

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

Pathways for Perrault Syndrome 5

GO Terms for Perrault Syndrome 5

Sources for Perrault Syndrome 5

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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