HSAN7
MCID: NRP031
MIFTS: 26

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

Categories: Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle 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 58 54 30 6 74
Hsan7 58 12 54 60 76
Hereditary Sensory and Autonomic Neuropathy Type Vii 12 54 60 76
Hereditary Sensory and Autonomic Neuropathy Type 7 12 54 60
Hereditary Sensory and Autonomic Neuropathy with Hyperhidrosis and Gastrointestinal Dysfunction 54 60
Congenital Insensitivity to Pain with Hyperhidrosis and Gastrointestinal Dysfunction 54 60
Hsan with Hyperhidrosis and Gastrointestinal Dysfunction 54 60
Cip with Hyperhidrosis and Gastrointestinal Dysfunction 54 60
Hsan Vii 58 76
Insensitivity to Pain, Congenital, with Gastrointestinal Dysfunction and Hyperhidrosis 58
Congenital Insensitivity to Pain with Gastrointestinal Dysfunction and Hyperhidrosis 76
Neuropathy, Sensory and Autonomic, Hereditary, Type Vii 41
Neuropathy, Hereditary Sensory and Autonomic, 7 76

Characteristics:

Orphanet epidemiological data:

60
hereditary sensory and autonomic neuropathy type 7
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
neuropathy, hereditary sensory and autonomic, type vii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

NIH Rare Diseases : 54 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 autonomic neuropathy, and has symptoms including constipation, pruritus and diarrhea. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Vii is SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11). Affiliated tissues include bone, and related phenotypes are hyperhidrosis and muscle weakness

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 : 76 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.

Description from OMIM: 615548

Related Diseases for 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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 33 HP:0000975
2 muscle weakness 33 HP:0001324
3 constipation 33 HP:0002019
4 pruritus 33 HP:0000989
5 motor delay 33 HP:0001270
6 diarrhea 33 HP:0002014
7 abnormal autonomic nervous system physiology 33 HP:0012332
8 pain insensitivity 33 HP:0007021

Symptoms via clinical synopsis from OMIM:

58
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:


constipation, pruritus, diarrhea

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 30 SCN11A

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

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

42
Bone

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

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

# Title Authors Year
1
Anesthetic Management of a Patient With De Novo Hereditary Sensory and Autonomic Neuropathy, Type VII: A Case Report. ( 29077663 )
2017

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

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

76
# Symbol AA change Variation ID SNP ID
1 SCN11A p.Leu811Pro VAR_070921 rs483352920
2 SCN11A p.Val1184Ala VAR_075250

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

6 (show top 50) (show all 370)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN11A NM_014139.2(SCN11A): c.3473T> C (p.Leu1158Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs141686175 GRCh38 Chromosome 3, 38872215: 38872215
2 SCN11A NM_014139.2(SCN11A): c.3473T> C (p.Leu1158Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs141686175 GRCh37 Chromosome 3, 38913706: 38913706
3 SCN11A NM_014139.2(SCN11A): c.2432T> C (p.Leu811Pro) single nucleotide variant Pathogenic rs483352920 GRCh37 Chromosome 3, 38936427: 38936427
4 SCN11A NM_014139.2(SCN11A): c.2432T> C (p.Leu811Pro) single nucleotide variant Pathogenic rs483352920 GRCh38 Chromosome 3, 38894936: 38894936
5 SCN11A NM_014139.2(SCN11A): c.1730C> T (p.Pro577Leu) single nucleotide variant Uncertain significance rs374524879 GRCh37 Chromosome 3, 38945468: 38945468
6 SCN11A NM_014139.2(SCN11A): c.1730C> T (p.Pro577Leu) single nucleotide variant Uncertain significance rs374524879 GRCh38 Chromosome 3, 38903977: 38903977
7 SCN11A NM_014139.2(SCN11A): c.1187T> C (p.Leu396Pro) single nucleotide variant Pathogenic rs1085307142 GRCh37 Chromosome 3, 38950600: 38950600
8 SCN11A NM_014139.2(SCN11A): c.1187T> C (p.Leu396Pro) single nucleotide variant Pathogenic rs1085307142 GRCh38 Chromosome 3, 38909109: 38909109
9 SCN11A NM_014139.2(SCN11A): c.180G> T (p.Arg60Ser) single nucleotide variant Uncertain significance rs149547996 GRCh37 Chromosome 3, 38991674: 38991674
10 SCN11A NM_014139.2(SCN11A): c.180G> T (p.Arg60Ser) single nucleotide variant Uncertain significance rs149547996 GRCh38 Chromosome 3, 38950183: 38950183
11 SCN11A NM_014139.2(SCN11A): c.5207G> T (p.Gly1736Val) single nucleotide variant Likely benign rs143852849 GRCh37 Chromosome 3, 38888354: 38888354
12 SCN11A NM_014139.2(SCN11A): c.5207G> T (p.Gly1736Val) single nucleotide variant Likely benign rs143852849 GRCh38 Chromosome 3, 38846863: 38846863
13 SCN11A NM_014139.2(SCN11A): c.5037C> T (p.Arg1679=) single nucleotide variant Benign rs61752574 GRCh37 Chromosome 3, 38888524: 38888524
14 SCN11A NM_014139.2(SCN11A): c.5037C> T (p.Arg1679=) single nucleotide variant Benign rs61752574 GRCh38 Chromosome 3, 38847033: 38847033
15 SCN11A NM_014139.2(SCN11A): c.4977C> T (p.Val1659=) single nucleotide variant Likely benign rs150087925 GRCh37 Chromosome 3, 38888584: 38888584
16 SCN11A NM_014139.2(SCN11A): c.4977C> T (p.Val1659=) single nucleotide variant Likely benign rs150087925 GRCh38 Chromosome 3, 38847093: 38847093
17 SCN11A NM_014139.2(SCN11A): c.4604A> G (p.Lys1535Arg) single nucleotide variant Uncertain significance rs1553630322 GRCh37 Chromosome 3, 38888957: 38888957
18 SCN11A NM_014139.2(SCN11A): c.4604A> G (p.Lys1535Arg) single nucleotide variant Uncertain significance rs1553630322 GRCh38 Chromosome 3, 38847466: 38847466
19 SCN11A NM_014139.2(SCN11A): c.4230G> A (p.Thr1410=) single nucleotide variant Benign rs78953918 GRCh37 Chromosome 3, 38892069: 38892069
20 SCN11A NM_014139.2(SCN11A): c.4230G> A (p.Thr1410=) single nucleotide variant Benign rs78953918 GRCh38 Chromosome 3, 38850578: 38850578
21 SCN11A NM_014139.2(SCN11A): c.3724A> G (p.Asn1242Asp) single nucleotide variant Uncertain significance rs769151002 GRCh37 Chromosome 3, 38912971: 38912971
22 SCN11A NM_014139.2(SCN11A): c.3724A> G (p.Asn1242Asp) single nucleotide variant Uncertain significance rs769151002 GRCh38 Chromosome 3, 38871480: 38871480
23 SCN11A NM_014139.2(SCN11A): c.3042A> T (p.Gln1014His) single nucleotide variant Uncertain significance rs1553635601 GRCh37 Chromosome 3, 38926801: 38926801
24 SCN11A NM_014139.2(SCN11A): c.3042A> T (p.Gln1014His) single nucleotide variant Uncertain significance rs1553635601 GRCh38 Chromosome 3, 38885310: 38885310
25 SCN11A NM_014139.2(SCN11A): c.2693G> A (p.Gly898Asp) single nucleotide variant Uncertain significance rs1301732976 GRCh37 Chromosome 3, 38936166: 38936166
26 SCN11A NM_014139.2(SCN11A): c.2693G> A (p.Gly898Asp) single nucleotide variant Uncertain significance rs1301732976 GRCh38 Chromosome 3, 38894675: 38894675
27 SCN11A NM_014139.2(SCN11A): c.2530T> C (p.Cys844Arg) single nucleotide variant Uncertain significance rs201598026 GRCh37 Chromosome 3, 38936329: 38936329
28 SCN11A NM_014139.2(SCN11A): c.2530T> C (p.Cys844Arg) single nucleotide variant Uncertain significance rs201598026 GRCh38 Chromosome 3, 38894838: 38894838
29 SCN11A NM_014139.2(SCN11A): c.2384C> T (p.Thr795Met) single nucleotide variant Uncertain significance rs767279633 GRCh37 Chromosome 3, 38938355: 38938355
30 SCN11A NM_014139.2(SCN11A): c.2384C> T (p.Thr795Met) single nucleotide variant Uncertain significance rs767279633 GRCh38 Chromosome 3, 38896864: 38896864
31 SCN11A NM_014139.2(SCN11A): c.2213C> T (p.Pro738Leu) single nucleotide variant Likely benign rs140995438 GRCh38 Chromosome 3, 38897035: 38897035
32 SCN11A NM_014139.2(SCN11A): c.2213C> T (p.Pro738Leu) single nucleotide variant Likely benign rs140995438 GRCh37 Chromosome 3, 38938526: 38938526
33 SCN11A NM_014139.2(SCN11A): c.1904A> G (p.His635Arg) single nucleotide variant Uncertain significance rs1434002501 GRCh37 Chromosome 3, 38941503: 38941503
34 SCN11A NM_014139.2(SCN11A): c.1904A> G (p.His635Arg) single nucleotide variant Uncertain significance rs1434002501 GRCh38 Chromosome 3, 38900012: 38900012
35 SCN11A NM_014139.2(SCN11A): c.1575T> C (p.Ala525=) single nucleotide variant Benign rs201554884 GRCh37 Chromosome 3, 38946711: 38946711
36 SCN11A NM_014139.2(SCN11A): c.1575T> C (p.Ala525=) single nucleotide variant Benign rs201554884 GRCh38 Chromosome 3, 38905220: 38905220
37 SCN11A NM_014139.2(SCN11A): c.1062G> A (p.Arg354=) single nucleotide variant Benign rs73828709 GRCh37 Chromosome 3, 38951596: 38951596
38 SCN11A NM_014139.2(SCN11A): c.1062G> A (p.Arg354=) single nucleotide variant Benign rs73828709 GRCh38 Chromosome 3, 38910105: 38910105
39 SCN11A NM_014139.2(SCN11A): c.30T> C (p.Phe10=) single nucleotide variant Likely benign rs139252438 GRCh37 Chromosome 3, 38991824: 38991824
40 SCN11A NM_014139.2(SCN11A): c.30T> C (p.Phe10=) single nucleotide variant Likely benign rs139252438 GRCh38 Chromosome 3, 38950333: 38950333
41 SCN11A NM_014139.2(SCN11A): c.5334G> A (p.Leu1778=) single nucleotide variant Benign rs4640498 GRCh38 Chromosome 3, 38846736: 38846736
42 SCN11A NM_014139.2(SCN11A): c.5334G> A (p.Leu1778=) single nucleotide variant Benign rs4640498 GRCh37 Chromosome 3, 38888227: 38888227
43 SCN11A NM_001349253.1(SCN11A): c.5261_5270dup (p.Asp1758Terfs) duplication Uncertain significance rs774589923 GRCh38 Chromosome 3, 38846800: 38846809
44 SCN11A NM_001349253.1(SCN11A): c.5261_5270dup (p.Asp1758Terfs) duplication Uncertain significance rs774589923 GRCh37 Chromosome 3, 38888291: 38888300
45 SCN11A NM_014139.2(SCN11A): c.5229C> G (p.Ala1743=) single nucleotide variant Likely benign rs763503543 GRCh38 Chromosome 3, 38846841: 38846841
46 SCN11A NM_014139.2(SCN11A): c.5229C> G (p.Ala1743=) single nucleotide variant Likely benign rs763503543 GRCh37 Chromosome 3, 38888332: 38888332
47 SCN11A NM_014139.2(SCN11A): c.5169C> T (p.Pro1723=) single nucleotide variant Benign rs116714494 GRCh38 Chromosome 3, 38846901: 38846901
48 SCN11A NM_014139.2(SCN11A): c.5169C> T (p.Pro1723=) single nucleotide variant Benign rs116714494 GRCh37 Chromosome 3, 38888392: 38888392
49 SCN11A NM_014139.2(SCN11A): c.5067C> G (p.Phe1689Leu) single nucleotide variant Uncertain significance rs201107889 GRCh38 Chromosome 3, 38847003: 38847003
50 SCN11A NM_014139.2(SCN11A): c.5067C> G (p.Phe1689Leu) single nucleotide variant Uncertain significance rs201107889 GRCh37 Chromosome 3, 38888494: 38888494

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

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