HSAN7
MCID: NRP031
MIFTS: 44

Neuropathy, Hereditary Sensory and Autonomic, Type Vii (HSAN7)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

Name: Neuropathy, Hereditary Sensory and Autonomic, Type Vii 56 52 29 6 71
Hsan7 56 12 52 58 73
Hereditary Sensory and Autonomic Neuropathy Type Vii 12 52 58 73
Hereditary Sensory and Autonomic Neuropathy Type 7 12 52 58 15
Hereditary Sensory and Autonomic Neuropathy with Hyperhidrosis and Gastrointestinal Dysfunction 52 58
Congenital Insensitivity to Pain with Hyperhidrosis and Gastrointestinal Dysfunction 52 58
Hsan with Hyperhidrosis and Gastrointestinal Dysfunction 52 58
Cip with Hyperhidrosis and Gastrointestinal Dysfunction 52 58
Hsan Vii 56 73
Insensitivity to Pain, Congenital, with Gastrointestinal Dysfunction and Hyperhidrosis 56
Congenital Insensitivity to Pain with Gastrointestinal Dysfunction and Hyperhidrosis 73
Neuropathy, Sensory and Autonomic, Hereditary, Type Vii 39
Neuropathy, Hereditary Sensory and Autonomic, 7 73

Characteristics:

Orphanet epidemiological data:

58
hereditary sensory and autonomic neuropathy type 7
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
three unrelated patients with the same de novo mutation have been reported (last curated december 2015)


HPO:

31
neuropathy, hereditary sensory and autonomic, type vii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070149
OMIM 56 615548
OMIM Phenotypic Series 56 PS162400
MeSH 43 D009477
ICD10 32 G60.8
ICD10 via Orphanet 33 G60.8
Orphanet 58 ORPHA391397
UMLS 71 C3809882

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

NIH Rare Diseases : 52 Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive , painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene . People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called "autosomal dominant."

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type Vii, also known as hsan7, is related to hereditary sensory neuropathy and anhidrosis, and has symptoms including pruritus, constipation and diarrhea. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Vii is SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and G-Beta Gamma Signaling. Affiliated tissues include bone, and related phenotypes are muscle weakness and hyperhidrosis

Disease Ontology : 12 A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has material basis in heterozygous mutation in the SCN11A gene on chromosome 3p22.

UniProtKB/Swiss-Prot : 73 Neuropathy, hereditary sensory and autonomic, 7: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction.

More information from OMIM: 615548 PS162400

Related Diseases for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Diseases in the Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy family:

Neuropathy, Hereditary Sensory and Autonomic, Type Ia Neuropathy, Hereditary Sensory and Autonomic, Type Iia
Neuropathy, Hereditary Sensory and Autonomic, Type Iii Neuropathy, Hereditary Sensory and Autonomic, Type V
Neuropathy, Hereditary Sensory and Autonomic, Type Iib Neuropathy, Hereditary Sensory and Autonomic, Type Ic
Neuropathy, Hereditary Sensory and Autonomic, Type Vi Neuropathy, Hereditary Sensory and Autonomic, Type Vii
Neuropathy, Hereditary Sensory and Autonomic, Type Viii Hereditary Sensory and Autonomic Neuropathy Type 1
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy

Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory neuropathy 10.2
2 anhidrosis 10.2
3 autonomic neuropathy 10.2
4 neuropathy 10.2
5 febrile seizures 10.1 SCN2A SCN1A
6 genetic epilepsy with febrile seizures plus 10.0 SCN2A SCN1A
7 seizure disorder 10.0 SCN2A SCN1A
8 epileptic encephalopathy, early infantile, 13 10.0 SCN2A SCN1A
9 malignant migrating partial seizures of infancy 10.0 SCN2A SCN1A
10 febrile seizures, familial, 5 10.0 SCN2A SCN1A
11 early onset absence epilepsy 10.0 SCN2A SCN1A
12 febrile seizures, familial, 2 10.0 SCN2A SCN1A
13 landau-kleffner syndrome 10.0 SCN2A SCN1A
14 episodic pain syndrome, familial, 3 10.0 SCN3A SCN11A
15 epileptic encephalopathy, early infantile, 14 10.0 SCN2A SCN1A
16 febrile seizures, familial, 1 10.0 SCN2A SCN1A
17 epilepsy with generalized tonic-clonic seizures 10.0 SCN2A SCN1A
18 benign familial neonatal epilepsy 9.9 SCN2A SCN1A
19 hyperkalemic periodic paralysis 9.9 SCN2A SCN1A
20 infancy electroclinical syndrome 9.9 SCN2A SCN1A
21 trigeminal neuralgia 9.9 SCN3A SCN11A
22 adolescence-adult electroclinical syndrome 9.9 SCN2A SCN1A
23 episodic ataxia 9.9 SCN2A SCN1A
24 progressive familial heart block, type ia 9.8 SCN3A SCN1A
25 photosensitive epilepsy 9.8 SCN2A SCN1A
26 episodic ataxia, type 1 9.8 SCN1A KCNV2
27 childhood electroclinical syndrome 9.8 SCN2A SCN1A
28 paramyotonia congenita of von eulenburg 9.8 SCN2A SCN1A PEPD
29 benign neonatal seizures 9.7 SCN2A SCN1A
30 partial motor epilepsy 9.7 SCN2A SCN1A KCNV2
31 trigeminal nerve disease 9.7 SCN3A SCN1A SCN11A
32 erythromelalgia 9.7 SCN3A SCN1A SCN11A
33 autonomic nervous system disease 9.7 SCN3A SCN1A SCN11A
34 paine syndrome 9.7 SCN3A SCN1A SCN11A
35 somatoform disorder 9.6 SCN3A SCN1A SCN11A
36 autosomal dominant nocturnal frontal lobe epilepsy 9.6 SCN2A SCN1A KCNV2
37 epilepsy, myoclonic juvenile 9.6 SCN2A SCN1A KCNV2
38 low-grade astrocytoma 9.6 SCN3A SCN2A SCN1A
39 migraine, familial hemiplegic, 3 9.6 SCN3A SCN2A SCN1A
40 neonatal period electroclinical syndrome 9.6 SCN3A SCN2A SCN1A
41 electroclinical syndrome 9.6 SCN3A SCN2A SCN1A
42 benign familial infantile epilepsy 9.6 SCN3A SCN2A SCN1A
43 lennox-gastaut syndrome 9.6 SCN3A SCN2A SCN1A
44 familial febrile seizures 9.6 SCN3A SCN2A SCN1A
45 early myoclonic encephalopathy 9.6 SCN3A SCN2A SCN1A
46 polymicrogyria 9.5 SCN3A SCN1A
47 focal epilepsy 9.5 SCN3A SCN2A SCN1A
48 cardiomyopathy, dilated, 1e 9.4 SCN3A SCN1A
49 generalized epilepsy with febrile seizures plus 9.3 SCN3A SCN2A SCN1A SCN11A
50 epileptic encephalopathy, early infantile, 6 9.3 SCN3A SCN2A SCN1A SCN11A

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:



Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 hyperhidrosis 31 HP:0000975
3 pruritus 31 HP:0000989
4 motor delay 31 HP:0001270
5 constipation 31 HP:0002019
6 self-injurious behavior 31 HP:0100716
7 diarrhea 31 HP:0002014
8 pain insensitivity 31 HP:0007021
9 abnormal autonomic nervous system physiology 31 HP:0012332

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
hyperhidrosis
pruritis
slow-healing wounds due to painless injuries
self injury

Neurologic Central Nervous System:
autonomic dysfunction
delayed motor development, mild
dystonic posturing (in some patients)

Muscle Soft Tissue:
muscle weakness, mild

Abdomen Gastrointestinal:
constipation
diarrhea
gastrointestinal dysfunction

Skeletal:
painless fractures

Neurologic Peripheral Nervous System:
insensitivity to pain
inability to feel pain

Clinical features from OMIM:

615548

UMLS symptoms related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:


pruritus, constipation, diarrhea

MGI Mouse Phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.1 KCNH5 PEPD SCN11A SCN1A SCN2A SCN3A

Drugs & Therapeutics for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Genetic Tests for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Genetic tests related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

# Genetic test Affiliating Genes
1 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 29 SCN11A

Anatomical Context for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

40
Bone

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Articles related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

# Title Authors PMID Year
1
A disease mutation reveals a role for NaV1.9 in acute itch. 56 6
30395542 2018
2
The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. 56 6
25118027 2015
3
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. 6 56
24036948 2013
4
Congenital Insensitivity to Pain Overview 6
29419974 2018
5
Anesthetic Management of a Patient With De Novo Hereditary Sensory and Autonomic Neuropathy, Type VII: A Case Report. 61
29077663 2018

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

6 (show top 50) (show all 315) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN11A NM_001349253.2(SCN11A):c.1187T>C (p.Leu396Pro)SNV Pathogenic 426113 rs1085307142 3:38950600-38950600 3:38909109-38909109
2 SCN11A NM_001349253.2(SCN11A):c.3904C>T (p.Leu1302Phe)SNV Pathogenic 504488 rs1553633131 3:38908859-38908859 3:38867368-38867368
3 SCN11A NM_001349253.2(SCN11A):c.2432T>C (p.Leu811Pro)SNV Pathogenic 89011 rs483352920 3:38936427-38936427 3:38894936-38894936
4 SCN11A NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro)SNV Conflicting interpretations of pathogenicity 157599 rs141686175 3:38913706-38913706 3:38872215-38872215
5 SCN11A NM_001349253.2(SCN11A):c.1986A>G (p.Gln662=)SNV Conflicting interpretations of pathogenicity 541551 rs746550786 3:38941421-38941421 3:38899930-38899930
6 SCN11A NM_001349253.2(SCN11A):c.408C>T (p.Ile136=)SNV Conflicting interpretations of pathogenicity 425293 rs148425367 3:38986982-38986982 3:38945491-38945491
7 SCN11A NM_001349253.2(SCN11A):c.1730C>T (p.Pro577Leu)SNV Uncertain significance 425292 rs374524879 3:38945468-38945468 3:38903977-38903977
8 SCN11A NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg)SNV Uncertain significance 474730 rs1553630322 3:38888957-38888957 3:38847466-38847466
9 SCN11A NM_001349253.2(SCN11A):c.180G>T (p.Arg60Ser)SNV Uncertain significance 450384 rs149547996 3:38991674-38991674 3:38950183-38950183
10 SCN11A NM_001349253.2(SCN11A):c.3724A>G (p.Asn1242Asp)SNV Uncertain significance 474722 rs769151002 3:38912971-38912971 3:38871480-38871480
11 SCN11A NM_001349253.2(SCN11A):c.3042A>T (p.Gln1014His)SNV Uncertain significance 474716 rs1553635601 3:38926801-38926801 3:38885310-38885310
12 SCN11A NM_001349253.2(SCN11A):c.2693G>A (p.Gly898Asp)SNV Uncertain significance 474710 rs1301732976 3:38936166-38936166 3:38894675-38894675
13 SCN11A NM_001349253.2(SCN11A):c.2530T>C (p.Cys844Arg)SNV Uncertain significance 474707 rs201598026 3:38936329-38936329 3:38894838-38894838
14 SCN11A NM_001349253.2(SCN11A):c.2384C>T (p.Thr795Met)SNV Uncertain significance 474706 rs767279633 3:38938355-38938355 3:38896864-38896864
15 SCN11A NM_001349253.2(SCN11A):c.1904A>G (p.His635Arg)SNV Uncertain significance 474697 rs1434002501 3:38941503-38941503 3:38900012-38900012
16 SCN11A NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu)SNV Uncertain significance 474743 rs201107889 3:38888494-38888494 3:38847003-38847003
17 SCN11A NM_001349253.2(SCN11A):c.5063C>T (p.Ala1688Val)SNV Uncertain significance 474742 rs79184444 3:38888498-38888498 3:38847007-38847007
18 SCN11A NM_001349253.2(SCN11A):c.4879T>C (p.Tyr1627His)SNV Uncertain significance 474736 rs114854233 3:38888682-38888682 3:38847191-38847191
19 SCN11A NM_001349253.2(SCN11A):c.4433G>A (p.Arg1478Gln)SNV Uncertain significance 474729 rs758597298 3:38889128-38889128 3:38847637-38847637
20 SCN11A NM_001349253.2(SCN11A):c.5251_5260GTGACCAAGG[3] (p.Asp1758_Gln1759insTer)short repeat Uncertain significance 474747 rs774589923 3:38888290-38888291 3:38846799-38846800
21 SCN11A NM_001349253.2(SCN11A):c.2945G>A (p.Arg982Gln)SNV Uncertain significance 474714 rs562379429 3:38927620-38927620 3:38886129-38886129
22 SCN11A NM_001349253.2(SCN11A):c.2318T>C (p.Met773Thr)SNV Uncertain significance 474705 rs1198350999 3:38938421-38938421 3:38896930-38896930
23 SCN11A NM_001349253.2(SCN11A):c.1685A>G (p.Gln562Arg)SNV Uncertain significance 474693 rs764962415 3:38945513-38945513 3:38904022-38904022
24 SCN11A NM_001349253.2(SCN11A):c.695C>T (p.Ala232Val)SNV Uncertain significance 474751 rs1553641382 3:38966923-38966923 3:38925432-38925432
25 SCN11A NM_001349253.2(SCN11A):c.481A>G (p.Ile161Val)SNV Uncertain significance 474734 rs1398192783 3:38986909-38986909 3:38945418-38945418
26 SCN11A NM_001349253.2(SCN11A):c.470A>T (p.Asn157Ile)SNV Uncertain significance 474733 rs145680426 3:38986920-38986920 3:38945429-38945429
27 SCN11A NM_001349253.2(SCN11A):c.465C>A (p.Asn155Lys)SNV Uncertain significance 474731 rs895473949 3:38986925-38986925 3:38945434-38945434
28 SCN11A NM_001349253.2(SCN11A):c.172G>C (p.Ala58Pro)SNV Uncertain significance 474694 rs1553644519 3:38991682-38991682 3:38950191-38950191
29 SCN11A NM_001349253.2(SCN11A):c.5359A>G (p.Lys1787Glu)SNV Uncertain significance 474749 rs199522402 3:38888202-38888202 3:38846711-38846711
30 SCN11A NM_001349253.2(SCN11A):c.2759C>T (p.Ala920Val)SNV Uncertain significance 474711 rs759694252 3:38936100-38936100 3:38894609-38894609
31 SCN11A NM_001349253.2(SCN11A):c.1624C>A (p.Pro542Thr)SNV Uncertain significance 474692 rs144473860 3:38945574-38945574 3:38904083-38904083
32 SCN11A NM_001349253.2(SCN11A):c.1599G>A (p.Met533Ile)SNV Uncertain significance 474691 rs769224387 3:38946687-38946687 3:38905196-38905196
33 SCN11A NM_001349253.2(SCN11A):c.1499G>A (p.Arg500Gln)SNV Uncertain significance 474688 rs373827019 3:38946787-38946787 3:38905296-38905296
34 SCN11A NM_001349253.2(SCN11A):c.1132_1134TTC[2] (p.Phe380del)short repeat Uncertain significance 474686 rs771345700 3:38950647-38950649 3:38909156-38909158
35 SCN11A NM_001349253.2(SCN11A):c.938G>A (p.Cys313Tyr)SNV Uncertain significance 474758 rs1483985149 3:38961447-38961447 3:38919956-38919956
36 SCN11A NM_001349253.2(SCN11A):c.742C>T (p.Arg248Cys)SNV Uncertain significance 474755 rs764550088 3:38962717-38962717 3:38921226-38921226
37 SCN11A NM_001349253.2(SCN11A):c.712C>T (p.Arg238Cys)SNV Uncertain significance 474754 rs146942592 3:38966906-38966906 3:38925415-38925415
38 SCN11A NM_001349253.2(SCN11A):c.703G>T (p.Val235Leu)SNV Uncertain significance 474753 rs770885330 3:38966915-38966915 3:38925424-38925424
39 SCN11A NM_001349253.2(SCN11A):c.2299G>A (p.Gly767Arg)SNV Uncertain significance 474704 rs9816941 3:38938440-38938440 3:38896949-38896949
40 SCN11A NM_001349253.2(SCN11A):c.4284C>T (p.Gly1428=)SNV Uncertain significance 474726 rs1415789103 3:38892015-38892015 3:38850524-38850524
41 SCN11A NM_001349253.2(SCN11A):c.3877A>G (p.Ile1293Val)SNV Uncertain significance 474724 rs761590329 3:38908886-38908886 3:38867395-38867395
42 SCN11A NM_001349253.2(SCN11A):c.2993A>G (p.Asp998Gly)SNV Uncertain significance 474715 rs373403886 3:38926850-38926850 3:38885359-38885359
43 SCN11A NM_001349253.2(SCN11A):c.1927A>G (p.Ile643Val)SNV Uncertain significance 474698 rs200800847 3:38941480-38941480 3:38899989-38899989
44 SCN11A NM_001349253.2(SCN11A):c.1043_1045dup (p.Ser348dup)duplication Uncertain significance 474684 rs1364760343 3:38951612-38951613 3:38910121-38910122
45 SCN11A NM_001349253.2(SCN11A):c.1483del (p.Leu494_Leu495insTer)deletion Uncertain significance 541557 rs763788482 3:38946803-38946803 3:38905312-38905312
46 SCN11A NM_001349253.2(SCN11A):c.2085C>T (p.Gly695=)SNV Uncertain significance 541561 rs1033558330 3:38938654-38938654 3:38897163-38897163
47 SCN11A NM_001349253.2(SCN11A):c.2083G>A (p.Gly695Ser)SNV Uncertain significance 541579 rs553388188 3:38938656-38938656 3:38897165-38897165
48 SCN11A NM_001349253.2(SCN11A):c.4607C>T (p.Thr1536Ile)SNV Uncertain significance 541560 rs766122411 3:38888954-38888954 3:38847463-38847463
49 SCN11A NM_001349253.2(SCN11A):c.102A>G (p.Gln34=)SNV Uncertain significance 541556 rs778597965 3:38991752-38991752 3:38950261-38950261
50 SCN11A NM_001349253.2(SCN11A):c.4973G>A (p.Arg1658His)SNV Uncertain significance 541569 rs141457896 3:38888588-38888588 3:38847097-38847097

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Vii:

73
# Symbol AA change Variation ID SNP ID
1 SCN11A p.Leu811Pro VAR_070921 rs483352920
2 SCN11A p.Val1184Ala VAR_075250

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory and Autonomic, Type Vii.

Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Pathways related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 SCN3A SCN2A SCN1A SCN11A KCNV2
2
Show member pathways
12.54 SCN3A SCN2A SCN1A SCN11A
3
Show member pathways
12.35 SCN3A SCN2A SCN1A SCN11A
4 12.14 SCN2A SCN1A SCN11A
5
Show member pathways
12.14 SCN3A SCN2A SCN1A SCN11A KCNV2
6
Show member pathways
11.65 SCN3A SCN2A SCN1A SCN11A
7
Show member pathways
11.13 SCN3A SCN2A SCN1A SCN11A
8 10.4 SCN3A SCN2A SCN1A SCN11A

GO Terms for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

Cellular components related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.88 SCN3A SCN2A SCN1A SCN11A KCNV2 KCNH5
2 axon GO:0030424 9.46 SCN3A SCN2A SCN1A SCN11A
3 T-tubule GO:0030315 9.37 SCN2A SCN1A
4 intercalated disc GO:0014704 9.32 SCN2A SCN1A
5 node of Ranvier GO:0033268 9.26 SCN2A SCN1A
6 sodium channel complex GO:0034706 8.96 SCN2A SCN1A
7 voltage-gated sodium channel complex GO:0001518 8.92 SCN3A SCN2A SCN1A SCN11A

Biological processes related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 SCN3A SCN2A SCN1A SCN11A KCNV2 KCNH5
2 transmembrane transport GO:0055085 9.73 SCN3A SCN2A SCN1A SCN11A KCNV2 KCNH5
3 sodium ion transport GO:0006814 9.71 SCN3A SCN2A SCN1A SCN11A
4 sodium ion transmembrane transport GO:0035725 9.67 SCN3A SCN2A SCN1A SCN11A
5 ion transmembrane transport GO:0034220 9.61 SCN3A SCN2A SCN1A
6 regulation of membrane potential GO:0042391 9.46 SCN1A KCNH5
7 neuronal action potential GO:0019228 9.46 SCN3A SCN2A SCN1A SCN11A
8 membrane depolarization during action potential GO:0086010 9.26 SCN3A SCN2A SCN1A SCN11A
9 regulation of ion transmembrane transport GO:0034765 9.1 SCN3A SCN2A SCN1A SCN11A KCNV2 KCNH5

Molecular functions related to Neuropathy, Hereditary Sensory and Autonomic, Type Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 9.62 SCN3A SCN2A SCN1A SCN11A
2 sodium channel activity GO:0005272 9.56 SCN3A SCN2A SCN1A SCN11A
3 voltage-gated sodium channel activity GO:0005248 9.46 SCN3A SCN2A SCN1A SCN11A
4 ion channel activity GO:0005216 9.43 SCN3A SCN2A SCN1A SCN11A KCNV2 KCNH5
5 potassium channel activity GO:0005267 9.4 KCNV2 KCNH5
6 voltage-gated potassium channel activity GO:0005249 9.37 KCNV2 KCNH5
7 voltage-gated ion channel activity GO:0005244 9.1 SCN3A SCN2A SCN1A SCN11A KCNV2 KCNH5

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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