MCID: NRP049
MIFTS: 20

Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux

Categories: Gastrointestinal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough...

MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux:

Name: Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux 58 45 74
Hsan with Cough and Gastroesophageal Reflux 12 60
Hsan1b 58 60
Hereditary Sensory and Autonomic Neuropathy Type 1 with Cough and Gastroesophageal Reflux 60
Neuropathy, Hereditary Sensory and Autonomic, Type Ib; Hsan1b 58
Neuropathy, Hereditary Sensory and Autonomic, Type Ib 58
Hereditary Sensory and Autonomic Neuropathy Type 1b 60
Hereditary Sensory and Autonomic Neuropathy Type Ib 60
Neuropathy, Hereditary Sensory, Type Ib; Hsn1b 58
Neuropathy, Hereditary Sensory, Type Ib 58
Hereditary Sensory Neuropathy, Type Ib 13
Hereditary Sensory Neuropathy Type 1b 12
Hereditary Sensory Neuropathy Type Ib 12
Hsn1b 58

Characteristics:

Orphanet epidemiological data:

60
hereditary sensory and autonomic neuropathy type 1b
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset of cough in early adulthood
onset of sensory neuropathy in later adulthood


HPO:

33
neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070148
OMIM 58 608088
MeSH 45 C564296
ICD10 via Orphanet 35 G60.8
UMLS via Orphanet 75 C1842586
Orphanet 60 ORPHA139564
MedGen 43 C1842586
UMLS 74 C1842586

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough...

OMIM : 58 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 a discussion of genetic heterogeneity of HSAN, see HSAN1A (162400). (608088)

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux, also known as hsan with cough and gastroesophageal reflux, is related to neuropathy, hereditary sensory, type ie, and has symptoms including coughing, hoarseness and lancinating pains. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux is HSN1B (Hereditary Sensory Neuropathy, Type IB). Related phenotypes are sensorineural hearing impairment and gastroesophageal reflux

Disease Ontology : 12 A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has material basis in variation in the chromosome region 3p24-p22.

Related Diseases for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough...

Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 11.2

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough...

Human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407
2 gastroesophageal reflux 33 HP:0002020
3 sensory axonal neuropathy 33 HP:0003390
4 hoarse voice 33 HP:0001609
5 syncope 33 HP:0001279
6 impotence 33 HP:0000802
7 alacrima 33 HP:0000522
8 distal sensory impairment 33 HP:0002936

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
gastroesophageal reflux

Respiratory Larynx:
hoarse voice
throat clearing

Genitourinary External Genitalia Male:
impotence

Head And Neck Ears:
hearing loss, sensorineural

Neurologic Central Nervous System:
cough syncope

Neurologic Peripheral Nervous System:
sensory axonal neuropathy
lancinating pains
distal sensory loss, upper and lower limbs
sensory loss more severe for pain and temperature

Voice:
hoarse voice

Head And Neck Eyes:
alacrima

Respiratory:
cough, chronic, paroxysmal, triggered by noxious odors or pressure in the external auditory canal

Clinical features from OMIM:

608088

UMLS symptoms related to Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux:


coughing, hoarseness, lancinating pains

Drugs & Therapeutics for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough...

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux

Cochrane evidence based reviews: neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux

Genetic Tests for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough...

Anatomical Context for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough...

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough...

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough...

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough...

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux.

Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough...

GO Terms for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough...

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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