Hereditary sensory and autonomic neuropathy type 1B
Synonyms: HSAN with cough and gastroesophageal reflux · HSAN1B · Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux · Hereditary sensory and autonomic neuropathy type IB
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare hereditary sensory and autonomic neuropathy characterized by adult-onset chronic, paroxysmal and dry cough and gastro-oesophageal reflux preceeding the neuropathy. Cough is usually triggered by noxious odors, inhalation of fumes, eating dry food, lying flat or tactile stimulation of external auditory canal, and it may progress into cough syncope. Frequent throat clearing and hoarse voice may also be present. Gastro-oesophageal reflux usually presents with mild heartburn, however regurgitation and acid brash are reported in more severe cases. Sensory neuropathy symptoms develop later in life (between the third and fifth decades) with variable severities. Patients may have sensory loss in the upper and lower limbs, lancinating pains, superficial painless injuries or truncal neuropathy. Bilateral high frequency sensorineural hearing loss is common. Additional clinical features may include retinal detachment, alacrima, urinary urgency, constipation and impotence. Nerve biopsy showed loss of unmyelinated and myelinated axons.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary sensory and autonomic neuropathy type 1B | HSAN with cough and gastroesophageal reflux · HSAN1B · Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux · Hereditary sensory and autonomic neuropathy type IB |
| fr | Neuropathie héréditaire sensitive et autonomique type 1B | NHSA avec toux et reflux gastrique · NHSA1B · Neuropathie héréditaire sensitive et autonomique type 1 avec toux et reflux gastrique · Neuropathie héréditaire sensitive et autonomique type IB |
| de | Neuropathie, autonome hereditäre sensorische, Typ 1B | HSAN mit Husten und gastro-ösophagealem Reflux · HSAN1B · Neuropathie, autonome hereditäre sensorische, Typ IB |
| es | Neuropatía sensitiva autonómica hereditaria tipo 1B | NSAH con tos y reflujo gastroesofágico · NSAH1B · Neuropatía sensitiva autonómica hereditaria tipo IB · Neuropatía sensitiva y autonómica hereditaria tipo 1 con tos y reflujo gastroesofágico |
| it | Neuropatia autonomica e sensoriale ereditaria, tipo 1B | HSAN con tosse e reflusso gastroesofageo · HSAN1B · Neuropatia autonomica e sensoriale ereditaria tipo 1 - tosse - reflusso gastroesofageo |
| nl | Erfelijke sensorische en autonome neuropathie type 1B | Erfelijke sensorische en autonome neuropathie type 1 met hoest en gastro-oesofageale reflux · Erfelijke sensorische en autonome neuropathie type IB · HSAN met hoest en gastro-oesofageale reflux · HSAN1B |
| pt | Neuropatia sensitiva e autonómica hereditária tipo 1B | |
| pl | Dziedziczna neuropatia czuciowa i autonomiczna typu 1B | HSAN1B · HSAN z kaszlem i refluksem żołądkowo-przełykowym · Dziedziczna neuropatia czuciowa i autonomiczna typu IB · Dziedziczna neuropatia czuciowa i autonomiczna typu 1 z kaszlem i refluksem żołądkowo-przełykowym |
| cs | Hereditární senzorická a autonomní neuropatie, typ 1B | HSAN s kašlem a gastroezofageálním refluxem · HSAN1B · Hereditární senzorická a autonomní neuropatie, typ 1 s kašlem a gastroezofageálním refluxem |
| uk | Спадкова сенсорна та автономна нейропатія, тип 1B | Спадкова сенсорна та вегетативна нейропатія типу 1 з кашлем та шлунково-стравохідним рефлюксом · Спадкова сенсорна та автономна нейропатія типу IB · HSAN при кашлі та гастроезофагеальному рефлюксі · HSAN1B |
| zh | 遗传性感觉和自主神经病变1B型 | 遗传性感觉和自主神经病变1型伴咳嗽和胃食管反流 |
| tr | Kalıtsal duyusal ve otonom nöropati tip 1B | HSAN1B · Öksürük ve gastroözofageal reflü ile seyreden HSAN · Kalıtsal duyusal ve otonom nöropati tip IB · Öksürük ve gastroözofageal reflü ile seyreden kalıtsal duyusal ve otonom nöropati tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608088 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| ICD-11 | 8C21.0 | NTBT | index | validated |
| MONDO | 0011961 | E | validated | |
| MeSH | C564296 | E | validated | |
| UMLS | C1842586 | 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 (1):
- ORPHA:140474Autosomal dominant hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 12870133[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12870133[PMID] |
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/139564
- This record as JSON: /data/d/139564.json