ORPHA:391397
Hereditary sensory and autonomic neuropathy type 7
Synonyms: CIP with hyperhidrosis and gastrointestinal dysfunction · Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction · HSAN with hyperhidrosis and gastrointestinal dysfunction · HSAN7 · Hereditary sensory and autonomic neuropathy type VII · Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary sensory and autonomic neuropathy type 7 | CIP with hyperhidrosis and gastrointestinal dysfunction · Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction · HSAN with hyperhidrosis and gastrointestinal dysfunction · HSAN7 · Hereditary sensory and autonomic neuropathy type VII · Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction |
| fr | Neuropathie héréditaire sensitive et autonomique type 7 | Insensibilité congénitale à la douleur avec hyperhidrose et troubles gastro-intestinaux · NHSA avec hyperhidrose et troubles gastrointestinaux · NHSA7 · Neuropathie héréditaire sensitive et autonomique avec hyperhidrose et troubles gastro-intestinaux · Neuropathie héréditaire sensitive et autonomique type VII |
| de | Neuropathie, autonome hereditäre sensorische, Typ 7 | CIP mit Hyperhidrose und gastrointestinaler Dysfunktion · HSAN mit Hyperhidrose und gastrointestinaler Dysfunktion · HSAN7 · Hereditäre sensorische und autonome Neuropathie mit Hyperhidrose und gastrointestinaler Dysfunktion · Kongenitale Schmerzunempfindlichkeit mit Hyperhidrose und gastrointestinaler Dysfunktion · Neuropathie, autonome hereditäre sensorische, Typ VII |
| es | Neuropatía sensitiva autonómica hereditaria tipo 7 | CIP con hiperhidrosis y disfunción gastrointestinal · HSAN con hiperhidrosis y disfunción gastrointestinal · HSAN7 · Insensibilidad congénita al dolor con hiperhidrosis y disfunción gastrointestinal · Neuropatía sensitiva autonómica hereditaria con hiperhidrosis y disfunción gastrointestinal · Neuropatía sensitiva autonómica hereditaria tipo VII |
| it | Neuropatia sensoriale e autonomica ereditaria tipo 7 | HSAN con iperidrosi e disfunzione gastrointestinale · HSAN7 · Insensibilità congenita al dolore con iperidrosi e disfunzione gastrointestinale · Neuropatia autonomica e sensoriale ereditaria con iperidrosi e disfunzione gastrointestinale |
| nl | Erfelijke sensorische en autonome neuropathie type 7 | CIP met hyperhidrose en gastro-intestinale disfunctie · Congenitale ongevoeligheid voor pijn met hyperhidrose en gastro-intestinale disfunctie · Erfelijke sensorische en autonome neuropathie met hyperhidrose en gastro-intestinale disfunctie · Erfelijke sensorische en autonome neuropathie type VII · HSAN met hyperhidrose en gastro-intestinale disfunctie · HSAN7 |
| pt | Neuropatia sensitiva e autonómica hereditária tipo 7 | CIP com hiperhidrose e disfunção gastrointestinal · HSAN com hiperhidrose e disfunção gastrointestinal · HSAN7 · Insensibilidade à dor congénita com hiperhidrose e disfunção gastrointestinal · Neuropatia sensitiva e autonómica hereditária com hiperhidrose e disfunção gastrointestinal · Neuropatia sensitiva e autonómica hereditária tipo VII |
| pl | Dziedziczna neuropatia czuciowa i autonomiczna typu 7 | HSAN7 · Dziedziczna neuropatia czuciowa i autonomiczna typu VII · CIP z hiperhydrozą i dysfunkcją żołądkowo-jelitową · HSAN z hiperhydrozą i dysfunkcją żołądkowo-jelitową · Wrodzona niewrażliwość na ból z hiperhydrozą i dysfunkcją żołądkowo-jelitową · Dziedziczna neuropatia czuciowa i autonomiczna z hiperhydrozą i dysfunkcją żołądkowo-jelitową |
| cs | Hereditární senzorická a autonomní neuropatie, typ 7 | Vrozená necitlivost na bolest s hyperhidrózou a gastrointestinální dysfunkcí · HSAN s hyperhidrózou a gastrointestinální dysfunkcí · HSAN7 · Hereditární senzorická a autonomní neuropatie s hyperhidrózou a gastrointestinální dysfunkcí |
| uk | Спадкова сенсорна та автономна нейропатія, тип 7 | CIP при гіпергідрозі та дисфункції шлунково-кишкового тракту · Вроджена нечутливість до болю при гіпергідрозі та дисфункції шлунково-кишкового тракту · Спадкова сенсорна та автономна нейропатія VII типу · Спадкова сенсорна та вегетативна нейропатія з гіпергідрозом та дисфункцією шлунково-кишкового тракту · HSAN при гіпергідрозі та дисфункції шлунково-кишкового тракту · HSAN7 |
| zh | 遗传性感觉和自主神经病变7型 | 遗传性感觉和自主神经病伴多汗症和胃肠功能障碍 |
| tr | Kalıtsal duyusal ve otonom nöropati tip 7 | HSAN7 · Kalıtsal duyusal ve otonom nöropati tip VII · Hiperhidroz ve gastrointestinal disfonksiyonu ile seyreden CIP · Hiperhidroz ve gastrointestinal disfonksiyonu ile sEyreden HSAN · Hiperhidroz ve gastrointestinal disfonksiyon ile seyreden ağrıya doğumsal duyarsızlık · Hiperhidroz ve gastrointestinal disfonksiyon ile seyreden kalıtsal duyusal ve otonomik nöropati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615548 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| MONDO | 0014244 | E | validated | |
| UMLS | C3809882 | E | validated | |
| GARD | 12732 | 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:140474Autosomal dominant hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCN11A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10583 | ENSG00000168356 | 604385 | 3p22.2 | sodium voltage-gated channel alpha subunit 11 | 24036948[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24036948[PMID]_24813307[PMID] | |
| 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/391397
- This record as JSON: /data/d/391397.json