ORPHA:88642
Congenital insensitivity to pain-anosmia-neuropathic arthropathy
Synonyms: SCN9A-related congenital insensitivity to pain
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic peripheral neuropathy characterized by complete congenital insensitivity to painful stimuli, commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital insensitivity to pain-anosmia-neuropathic arthropathy | SCN9A-related congenital insensitivity to pain |
| fr | Insensibilité congénitale à la douleur-anosmie-arthropathie neuropathique | Insensibilité congénitale à la douleur associée à SCN9A |
| de | Kongenitale Schmerzunempfindlichkeit mit Anosmie und neuropathischer Arthropathie | Schmerzunempfindlichkeit, kongenitale, SCN9A-Gen-assoziierte |
| es | Insensibilidad congénita al dolor-anosmia-artropatía neuropática | Insensibilidad congénita al dolor asociada a SCN9A |
| it | Insensibilità congenita al dolore, anosmia e artropatia neuropatica | Insensibilità congenita al dolore correlata a SCN9A |
| nl | Congenitale ongevoeligheid voor pijn - anosmie - neuropathische artropathie | SCN9A-gerelateerde congenitale ongevoeligheid voor pijn |
| pt | Insensibilidade congénita à dor-anosmia-artropatia neuropática | Insensibilidade congénita à dor SCN9A-relacionada |
| pl | Kanałopatia z towarzyszącym wrodzonym brakiem wrażliwości na ból | Kanałopatia z towarzyszącym CIP · Wrodzona niewrażliwość na ból-anosmia-artropatia neuropatyczna |
| cs | Vrozená necitlivost k bolesti, anosmii a neuropatické artropatii | = en |
| uk | Вроджена нечутливість до болю - аносмія - нейропатична артропатія | Вроджена нечутливість до болю, повязана з SCN9A |
| zh | 离子通道病相关先天性无痛症 | 离子通道病相关CIP |
| tr | Kanalopati-ilişkili Doğumsal ağrıya duyarsızlık | Kanalopati-ilişkili CIP |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243000 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| MONDO | 0009459 | E | validated | |
| MONDO | 9459 | E | validated | |
| UMLS | C5680180 | E | validated | |
| GARD | 12267 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:140477Autosomal recessive hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCN10A | Candidate gene tested in | Not yet assessed | HGNC:10582 | ENSG00000185313 | 604427 | 3p22.2 | sodium voltage-gated channel alpha subunit 10 | |
| SCN11A | Candidate gene tested in | Not yet assessed | HGNC:10583 | ENSG00000168356 | 604385 | 3p22.2 | sodium voltage-gated channel alpha subunit 11 | |
| SCN9A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10597 | ENSG00000169432 | 603415 | 2q24.3 | sodium voltage-gated channel alpha subunit 9 | 20529343[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88642
- This record as JSON: /data/d/88642.json