MCID: NRP049
MIFTS: 31

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

Categories: Gastrointestinal diseases, Genetic 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 70
Hsan with Cough and Gastroesophageal Reflux 12 58
Neuropathy, Hereditary Sensory, Type Ib 57 13
Hereditary Sensory Neuropathy Type 1b 12 15
Hsan1b 57 58
Hereditary Sensory and Autonomic Neuropathy Type 1 with Cough and Gastroesophageal Reflux 58
Neuropathy, Hereditary Sensory and Autonomic, Type Ib; Hsan1b 57
Neuropathy, Hereditary Sensory and Autonomic, Type Ib 57
Hereditary Sensory and Autonomic Neuropathy Type 1b 58
Hereditary Sensory and Autonomic Neuropathy Type Ib 58
Neuropathy, Hereditary Sensory, Type Ib; Hsn1b 57
Hereditary Sensory Neuropathy Type Ib 12
Hsn1b 57

Characteristics:

Orphanet epidemiological data:

58
hereditary sensory and autonomic neuropathy type 1b
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070148
OMIM® 57 608088
OMIM Phenotypic Series 57 PS162400
MeSH 44 C564296
ICD10 via Orphanet 33 G60.8
UMLS via Orphanet 71 C1842586
Orphanet 58 ORPHA139564
MedGen 41 C1842586
UMLS 70 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) (Updated 20-May-2021)

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 neuropathy, 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), and among its related pathways/superpathways are Phagosome and Remodeling of Adherens Junctions. 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:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 31.3 SPTLC2 SPTLC1
2 neuropathy 30.8 SPTLC2 SPTLC1 RAB7A HSN1B
3 hereditary sensory neuropathy 30.8 SPTLC2 SPTLC1 RAB7A HSN1B
4 autonomic neuropathy 9.9 SPTLC2 SPTLC1
5 neuropathy, hereditary sensory and autonomic, type ic 9.9 SPTLC2 SPTLC1
6 neuropathy, hereditary sensory and autonomic, type ia 9.9 SPTLC2 SPTLC1
7 nephrotic syndrome, type 14 9.9 SPTLC2 SPTLC1
8 leukodystrophy, hypomyelinating, 12 9.8 RAB7B RAB7A
9 charcot-marie-tooth disease, dominant intermediate b 9.8 RAB7B RAB7A
10 hereditary motor and sensory neuropathy, type iic 9.8 RAB7B RAB7A
11 c syndrome 9.8 RAB7B RAB7A
12 cataract 8, multiple types 9.8 RAB7B RAB7A
13 charcot-marie-tooth disease, type 4j 9.8 RAB7B RAB7A
14 hypertrophic neuropathy of dejerine-sottas 9.8 SPTLC1 RAB7A
15 vici syndrome 9.8 RAB7B RAB7A
16 legionnaire disease 9.8 RAB7B RAB7A
17 warburg micro syndrome 9.7 RAB7B RAB7A
18 charcot-marie-tooth disease, type 4b2 9.7 RAB7B RAB7A
19 hereditary sensory and autonomic neuropathy type 1 9.7 SPTLC2 SPTLC1 RAB7A
20 niemann-pick disease, type c1 9.6 RAB7B RAB7A
21 niemann-pick disease 9.6 RAB7B RAB7A
22 charcot-marie-tooth disease, demyelinating, type 1c 9.6 SPTLC2 RAB7B RAB7A
23 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.5 SPTLC2 RAB7B RAB7A
24 charcot-marie-tooth disease, axonal, type 2l 9.5 SPTLC1 RAB7B RAB7A
25 charcot-marie-tooth disease, axonal, type 2b 9.5 SPTLC1 RAB7B RAB7A
26 griscelli syndrome 9.5 RAB7B RAB7A
27 neuromuscular disease 9.4 SPTLC1 RAB7B RAB7A
28 peripheral nervous system disease 9.4 SPTLC1 RAB7B RAB7A
29 charcot-marie-tooth disease, axonal, type 2e 9.4 SPTLC1 RAB7B RAB7A
30 neuropathy, hereditary sensory, type id 9.2 SPTLC2 SPTLC1 RAB7B RAB7A
31 charcot-marie-tooth disease and deafness 9.2 SPTLC2 SPTLC1 RAB7B RAB7A
32 charcot-marie-tooth disease 9.2 SPTLC2 SPTLC1 RAB7B RAB7A
33 neuropathy, hereditary sensory and autonomic, type iia 9.2 SPTLC2 SPTLC1 RAB7B RAB7A

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux:



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

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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 gastroesophageal reflux 31 HP:0002020
3 cough 31 HP:0012735
4 hoarse voice 31 HP:0001609
5 syncope 31 HP:0001279
6 impotence 31 HP:0000802
7 alacrima 31 HP:0000522
8 distal sensory impairment 31 HP:0002936
9 sensory axonal neuropathy 31 HP:0003390

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
gastroesophageal reflux

Voice:
hoarse voice

Head And Neck Eyes:
alacrima

Head And Neck Ears:
hearing loss, sensorineural

Neurologic Central Nervous System:
cough syncope

Respiratory Larynx:
hoarse voice
throat clearing

Genitourinary External Genitalia Male:
impotence

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

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

Clinical features from OMIM®:

608088 (Updated 20-May-2021)

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...

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

# Title Authors PMID Year
1
Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. 57
16311270 2005
2
A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. 57
12870133 2003

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...

Pathways related to Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.61 RAB7B RAB7A
2 11.56 RAB7B RAB7A
3 11.54 RAB7B RAB7A
4 11.44 SPTLC2 SPTLC1
5 11.33 RAB7B RAB7A
6 11.21 RAB7B RAB7A
7 10.99 RAB7B RAB7A
8 10.77 RAB7B RAB7A
9 10.3 RAB7B RAB7A

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

Cellular components related to Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 late endosome GO:0005770 9.32 RAB7B RAB7A
2 late endosome membrane GO:0031902 9.26 RAB7B RAB7A
3 phagocytic vesicle GO:0045335 9.16 RAB7B RAB7A
4 phagocytic vesicle membrane GO:0030670 8.96 RAB7B RAB7A
5 serine C-palmitoyltransferase complex GO:0017059 8.62 SPTLC2 SPTLC1

Biological processes related to Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.63 SPTLC2 SPTLC1 RAB7A
2 sphingolipid metabolic process GO:0006665 9.43 SPTLC2 SPTLC1
3 sphingolipid biosynthetic process GO:0030148 9.4 SPTLC2 SPTLC1
4 endosome to lysosome transport GO:0008333 9.37 RAB7B RAB7A
5 biosynthetic process GO:0009058 9.32 SPTLC2 SPTLC1
6 ceramide biosynthetic process GO:0046513 9.26 SPTLC2 SPTLC1
7 sphingosine biosynthetic process GO:0046512 9.16 SPTLC2 SPTLC1
8 phagosome-lysosome fusion GO:0090385 8.96 RAB7B RAB7A
9 positive regulation of lipophagy GO:1904504 8.62 SPTLC2 SPTLC1

Molecular functions related to Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 9.16 SPTLC2 SPTLC1
2 pyridoxal phosphate binding GO:0030170 8.96 SPTLC2 SPTLC1
3 serine C-palmitoyltransferase activity GO:0004758 8.62 SPTLC2 SPTLC1

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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