Perrault Syndrome 5

General Information (adopted from Orphanet):

Synonyms, Signs: PRLTS5
PRLTS type-5 [IBIS]
Number of Symptoms 40
OrphanetNr:
OMIM Id: 616138
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
25956234 [IBIS]
Age of onset: Childhood
Adolescent
Adult
25956234 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Perrault Syndrome
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare neurologic disease
 -Rare otorhinolaryngologic disease
 -Rare urogenital disease

Comment:

Perrault Syndrome 5 (PRLTS5) is a subtype / child of Perrault Syndrome. Mutations in the twinkle primase-helicase (C10orf2) gene on chromosome 10q24.31 have been identified as the cause of PRLTS5 (OMIM 616138) (PMID:25956234). Twinkle is known to harbor multiple mutations, nearly all missenses, leading to dominant progressive external ophthalmoplegia type 3 and to recessive mitochondrial DNA depletion syndrome 7, also known as infantile-onset spinocerebellar ataxia (PMID:25355836).

Symptom Information: Sort by abundance 

1
 (HPO:0000496) Abnormality of eye movement 25956234 IBIS 79 / 7739
2
 (HPO:0000544) External ophthalmoplegia 25355836 IBIS 40 / 7739
3
 (HPO:0000639) Nystagmus 26970254 IBIS 555 / 7739
4
 (HPO:0000640) Gaze-evoked nystagmus 25355836 IBIS 27 / 7739
5
 (HPO:0000666) Horizontal nystagmus 25355836 IBIS 32 / 7739
6
 (HPO:0010544) Vertical nystagmus 25355836 IBIS 5 / 7739
7
 (HPO:0000602) Ophthalmoplegia 25355836 IBIS 56 / 7739
8
 (HPO:0002151) Increased serum lactate 25355836 IBIS 92 / 7739
9
 (HPO:0003542) Increased serum pyruvate 25355836 IBIS 18 / 7739
10
 (HPO:0008180) Mildly elevated creatine phosphokinase 25355836 IBIS 28 / 7739
11
 (HPO:0003554) Type 2 muscle fiber atrophy 25355836 IBIS 14 / 7739
12
 (HPO:0003693) Distal amyotrophy 25355836 IBIS 118 / 7739
13
 (HPO:0003198) Myopathy Occasional [IBIS] 25355836 IBIS 151 / 7739
14
 (HPO:0003477) Peripheral axonal neuropathy 25956234 IBIS 62 / 7739
15
 (HPO:0003474) Sensory impairment 25355836 IBIS 54 / 7739
16
 (HPO:0002403) Positive Romberg sign 25355836 IBIS 11 / 7739
17
 (HPO:0003390) Sensory axonal neuropathy 25355836 IBIS 26 / 7739
18
 (HPO:0009830) Peripheral neuropathy 25355836 IBIS 206 / 7739
19
 (HPO:0001251) Ataxia Very frequent [IBIS] 25956234 IBIS 413 / 7739
20
 (HPO:0002066) Gait ataxia 25355836 IBIS 327 / 7739
21
 (HPO:0002073) Progressive cerebellar ataxia 25956234 IBIS 27 / 7739
22
 (HPO:0100022) Abnormality of movement 25355836 IBIS 129 / 7739
23
 (HPO:0001265) Hyporeflexia Very frequent [IBIS] 25956234 IBIS 208 / 7739
24
 (HPO:0001250) Seizures rare [HPO:skoehler] 25355836 IBIS 1245 / 7739
25
 (HPO:0002069) Generalized tonic-clonic seizures 25355836 IBIS 96 / 7739
26
 (HPO:0001761) Pes cavus rare [HPO:skoehler] 25355836 IBIS 225 / 7739
27
 (HPO:0000815) Hypergonadotropic hypogonadism 25355836 IBIS 48 / 7739
28
 (HPO:0000786) Primary amenorrhea 25355836 IBIS 61 / 7739
29
 (HPO:0000133) Gonadal dysgenesis Very frequent [IBIS] 25355836 IBIS 21 / 7739
30
 (HPO:0010464) Streak ovary 25355836 IBIS 8 / 7739
31
 (HPO:0008209) Premature ovarian failure Very frequent [IBIS] 25956234 IBIS 28 / 7739
32
 (HPO:0001587) Primary ovarian failure Very frequent [IBIS] 26970254 IBIS 9 / 7739
33
 (HPO:0000218) High palate rare [HPO:skoehler] 25355836 IBIS 356 / 7739
34
 (HPO:0008232) Elevated follicle stimulating hormone 25355836 IBIS 8 / 7739
35
 (HPO:0011969) Elevated luteinizing hormone 25355836 IBIS 6 / 7739
36
 (HPO:0000407) Sensorineural hearing impairment Very frequent [IBIS] 25956234 IBIS 524 / 7739
37
 (HPO:0008619) Bilateral sensorineural hearing impairment 25355836 IBIS 23 / 7739
38
 (HPO:0001730) Progressive hearing impairment 25956234 IBIS 29 / 7739
39
 (HPO:0008187) Absence of secondary sex characteristics 25355836 IBIS 5 / 7739
40
 (OMIM) Ovarian dysgenesis Very frequent [IBIS] 25956234 IBIS 7 / 7739

Associated genes:

C10orf2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: