Hereditary sensory and autonomic neuropathy type 1B

General Information (adopted from Orphanet):

Synonyms, Signs: NEUROPATHY, HEREDITARY SENSORY, TYPE IB
HSAN1B
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IB
HSN1B
Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux
HSAN with cough and gastroesophageal reflux
Number of Symptoms 14
OrphanetNr: 139564
OMIM Id: 608088
ICD-10: G60.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant hereditary sensory and autonomic neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000802) Impotence 20 / 7739
2
 (HPO:0000522) Alacrima 14 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
4
 (HPO:0003390) Sensory axonal neuropathy 26 / 7739
5
 (HPO:0002936) Distal sensory impairment 96 / 7739
6
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
7
 (HPO:0001279) Syncope 94 / 7739
8
 (HPO:0001609) Hoarse voice 34 / 7739
9
 (OMIM) Throat clearing 1 / 7739
10
 (OMIM) Lancinating pains 2 / 7739
11
 (OMIM) Sensory loss more severe for pain and temperature 1 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
 (OMIM) Cough syncope 1 / 7739
14
 (OMIM) Cough, chronic, paroxysmal, triggered by noxious odors or pressure in the external auditory canal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN) in the absence of significant autonomic features, are a genetically and clinically heterogeneous group of disorders associated with sensory dysfunction. For ...
Clinical Description OMIM HSN1 with cough and gastroesophageal reflux (GER) was described by Spring et al. (2002). The first symptoms of HSN1 with cough and GER were sometimes an unexplained chronic cough, which could progress to cough syncope. Monitoring of esophageal ...