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 57 44 73
Hsan with Cough and Gastroesophageal Reflux 12 59
Hsan1b 57 59
Hereditary Sensory and Autonomic Neuropathy Type 1 with Cough and Gastroesophageal Reflux 59
Neuropathy, Hereditary Sensory and Autonomic, Type Ib; Hsan1b 57
Neuropathy, Hereditary Sensory and Autonomic, Type Ib 57
Hereditary Sensory and Autonomic Neuropathy Type 1b 59
Hereditary Sensory and Autonomic Neuropathy Type Ib 59
Neuropathy, Hereditary Sensory, Type Ib; Hsn1b 57
Neuropathy, Hereditary Sensory, Type Ib 57
Hereditary Sensory Neuropathy, Type Ib 13
Hereditary Sensory Neuropathy Type 1b 12
Hereditary Sensory Neuropathy Type Ib 12
Hsn1b 57

Characteristics:

Orphanet epidemiological data:

59
hereditary sensory and autonomic neuropathy type 1b
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608088
Disease Ontology 12 DOID:0070148
MeSH 44 C564296
Orphanet 59 ORPHA139564
UMLS via Orphanet 74 C1842586
ICD10 via Orphanet 34 G60.8
MedGen 42 C1842586
UMLS 73 C1842586

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

OMIM : 57 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 11.1

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 gastroesophageal reflux 32 HP:0002020
3 sensory axonal neuropathy 32 HP:0003390
4 hoarse voice 32 HP:0001609
5 syncope 32 HP:0001279
6 impotence 32 HP:0000802
7 alacrima 32 HP:0000522
8 distal sensory impairment 32 HP:0002936

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....