CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
A rare genetic neurodegenerative disease characterized by childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency that may lead to ventilator dependency and/or tracheostomy) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome | |
| fr | Syndrome de neurodégénération progressive-neuropathie périphérique lié à CLCN6 | |
| de | CLCN6-assoziierte progressive Neurodegeneration mit peripherer Neuropathie im Kindesalter | |
| es | Síndrome de neuropatía periférica-neurodegeneración progresiva de inicio en la infancia asociado al gen CLCN6 | |
| it | Sindrome da degenerazione neurologica progressiva e neuropatia periferica ad esordio infantile correlata a CLCN6 | |
| nl | CLCN6-gerelateerd in de kindertijd optredend progressieve neurodegeneratie - perifere neuropathie-syndroom | |
| pt | Síndrome de neurodegenerescência progressiva de início na infância-neuropatia periférica CLCN6-relacionada | |
| pl | Związany z CLCN6 zespół postępującej neurodegeneracji-obwodowej neuropatii o początku w wieku dziecięcym | |
| cs | Syndrom progresivní neurodegenerace a periferní neuropatie s nástupem v dětství související s CLCN6 | |
| uk | CLCN6-повязаний синдром прогресуючої нейродегенерації та периферичної нейропатії, що починається в дитячому віці |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619173 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| MONDO | 0030947 | E | validated | |
| UMLS | C5543020 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:207025Rare hereditary neurologic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLCN6 | Disease-causing germline mutation(s) in | Assessed | HGNC:2024 | ENSG00000011021 | 602726 | 1p36.22 | Cl-/H+ antiporter 6 | 33217309[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 33217309[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33217309[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/610573
- This record as JSON: /data/d/610573.json