HSAN7
MCID: NRP031
MIFTS: 32

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, 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 57 53 29 6 72
Hsan7 57 12 53 59 74
Hereditary Sensory and Autonomic Neuropathy Type Vii 12 53 59 74
Hereditary Sensory and Autonomic Neuropathy Type 7 12 53 59
Hereditary Sensory and Autonomic Neuropathy with Hyperhidrosis and Gastrointestinal Dysfunction 53 59
Congenital Insensitivity to Pain with Hyperhidrosis and Gastrointestinal Dysfunction 53 59
Hsan with Hyperhidrosis and Gastrointestinal Dysfunction 53 59
Cip with Hyperhidrosis and Gastrointestinal Dysfunction 53 59
Hsan Vii 57 74
Insensitivity to Pain, Congenital, with Gastrointestinal Dysfunction and Hyperhidrosis 57
Congenital Insensitivity to Pain with Gastrointestinal Dysfunction and Hyperhidrosis 74
Neuropathy, Sensory and Autonomic, Hereditary, Type Vii 40
Neuropathy, Hereditary Sensory and Autonomic, 7 74

Characteristics:

Orphanet epidemiological data:

59
hereditary sensory and autonomic neuropathy type 7
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
neuropathy, hereditary sensory and autonomic, type vii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070149
MeSH 44 D009477
ICD10 33 G60.8
ICD10 via Orphanet 34 G60.8
Orphanet 59 ORPHA391397
UMLS 72 C3809882

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

NIH Rare Diseases : 53 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 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 : 74 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

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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 muscle weakness 32 HP:0001324
3 constipation 32 HP:0002019
4 self-injurious behavior 32 HP:0100716
5 pruritus 32 HP:0000989
6 motor delay 32 HP:0001270
7 diarrhea 32 HP:0002014
8 abnormal autonomic nervous system physiology 32 HP:0012332
9 pain insensitivity 32 HP:0007021

Symptoms via clinical synopsis from OMIM:

57
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 29 SCN11A

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

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

41
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. 8 71
30395542 2018
2
The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. 8 71
25118027 2015
3
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. 8 71
24036948 2013
4
Congenital Insensitivity to Pain Overview 71
29419974 2018
5
Anesthetic Management of a Patient With De Novo Hereditary Sensory and Autonomic Neuropathy, Type VII: A Case Report. 38
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 236)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN11A NM_001349253.2(SCN11A): c.1187T> C (p.Leu396Pro) single nucleotide variant Pathogenic rs1085307142 3:38950600-38950600 3:38909109-38909109
2 SCN11A NM_001349253.2(SCN11A): c.2432T> C (p.Leu811Pro) single nucleotide variant Pathogenic rs483352920 3:38936427-38936427 3:38894936-38894936
3 SCN11A NM_001349253.2(SCN11A): c.3904C> T (p.Leu1302Phe) single nucleotide variant Pathogenic rs1553633131 3:38908859-38908859 3:38867368-38867368
4 SCN11A NM_001349253.2(SCN11A): c.3473T> C (p.Leu1158Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs141686175 3:38913706-38913706 3:38872215-38872215
5 SCN11A NM_001349253.2(SCN11A): c.5135T> C (p.Met1712Thr) single nucleotide variant Uncertain significance 3:38888426-38888426 3:38846935-38846935
6 SCN11A NM_001349253.2(SCN11A): c.5083G> A (p.Gly1695Ser) single nucleotide variant Uncertain significance 3:38888478-38888478 3:38846987-38846987
7 SCN11A NM_001349253.2(SCN11A): c.5071G> A (p.Ala1691Thr) single nucleotide variant Uncertain significance 3:38888490-38888490 3:38846999-38846999
8 SCN11A NM_001349253.2(SCN11A): c.4178C> A (p.Ala1393Asp) single nucleotide variant Uncertain significance 3:38892121-38892121 3:38850630-38850630
9 SCN11A NM_001349253.2(SCN11A): c.2654T> C (p.Met885Thr) single nucleotide variant Uncertain significance 3:38936205-38936205 3:38894714-38894714
10 SCN11A NM_001349253.2(SCN11A): c.2288G> A (p.Arg763His) single nucleotide variant Uncertain significance 3:38938451-38938451 3:38896960-38896960
11 SCN11A NM_001349253.2(SCN11A): c.2009G> A (p.Arg670His) single nucleotide variant Uncertain significance 3:38941398-38941398 3:38899907-38899907
12 SCN11A NM_001349253.2(SCN11A): c.1654T> A (p.Ser552Thr) single nucleotide variant Uncertain significance 3:38945544-38945544 3:38904053-38904053
13 SCN11A NM_001349253.2(SCN11A): c.429C> A (p.Cys143Ter) single nucleotide variant Uncertain significance 3:38986961-38986961 3:38945470-38945470
14 SCN11A NM_001349253.2(SCN11A): c.3620G> T (p.Cys1207Phe) single nucleotide variant Uncertain significance 3:38913075-38913075 3:38871584-38871584
15 SCN11A NM_001349253.2(SCN11A): c.3571G> A (p.Val1191Ile) single nucleotide variant Uncertain significance 3:38913124-38913124 3:38871633-38871633
16 SCN11A NM_001349253.2(SCN11A): c.1971G> C (p.Met657Ile) single nucleotide variant Uncertain significance 3:38941436-38941436 3:38899945-38899945
17 SCN11A NM_001349253.2(SCN11A): c.1560G> T (p.Gln520His) single nucleotide variant Uncertain significance 3:38946726-38946726 3:38905235-38905235
18 SCN11A NM_001349253.2(SCN11A): c.1192_1194GTT[1] (p.Val399del) short repeat Uncertain significance 3:38950590-38950592 3:38909099-38909101
19 SCN11A NM_001349253.2(SCN11A): c.489G> A (p.Glu163=) single nucleotide variant Uncertain significance 3:38968422-38968422 3:38926931-38926931
20 SCN11A NM_001349253.2(SCN11A): c.4748A> G (p.Tyr1583Cys) single nucleotide variant Uncertain significance 3:38888813-38888813 3:38847322-38847322
21 SCN11A NM_001349253.2(SCN11A): c.3851G> A (p.Gly1284Asp) single nucleotide variant Uncertain significance 3:38908912-38908912 3:38867421-38867421
22 SCN11A NM_001349253.2(SCN11A): c.3485A> G (p.Glu1162Gly) single nucleotide variant Uncertain significance 3:38913694-38913694 3:38872203-38872203
23 SCN11A NM_001349253.2(SCN11A): c.2522G> A (p.Arg841Gln) single nucleotide variant Uncertain significance 3:38936337-38936337 3:38894846-38894846
24 SCN11A NM_001349253.2(SCN11A): c.2319G> A (p.Met773Ile) single nucleotide variant Uncertain significance 3:38938420-38938420 3:38896929-38896929
25 SCN11A NM_001349253.2(SCN11A): c.2307G> A (p.Trp769Ter) single nucleotide variant Uncertain significance 3:38938432-38938432 3:38896941-38896941
26 SCN11A NM_001349253.2(SCN11A): c.2230del (p.Ser744fs) deletion Uncertain significance 3:38938509-38938509 3:38897018-38897018
27 SCN11A NM_001349253.2(SCN11A): c.1779C> A (p.Phe593Leu) single nucleotide variant Uncertain significance 3:38945419-38945419 3:38903928-38903928
28 SCN11A NM_001349253.2(SCN11A): c.1385G> A (p.Gly462Asp) single nucleotide variant Uncertain significance 3:38949528-38949528 3:38908037-38908037
29 SCN11A NM_001349253.2(SCN11A): c.974A> G (p.Gln325Arg) single nucleotide variant Uncertain significance 3:38951684-38951684 3:38910193-38910193
30 SCN11A NM_001349253.2(SCN11A): c.950T> C (p.Met317Thr) single nucleotide variant Uncertain significance 3:38961435-38961435 3:38919944-38919944
31 SCN11A NM_001349253.2(SCN11A): c.887C> T (p.Ala296Val) single nucleotide variant Uncertain significance 3:38962572-38962572 3:38921081-38921081
32 SCN11A NM_001349253.2(SCN11A): c.4143T> G (p.Ile1381Met) single nucleotide variant Uncertain significance 3:38892156-38892156 3:38850665-38850665
33 SCN11A NM_001349253.2(SCN11A): c.4057-7T> A single nucleotide variant Uncertain significance 3:38892249-38892249 3:38850758-38850758
34 SCN11A NM_001349253.2(SCN11A): c.3634G> T (p.Asp1212Tyr) single nucleotide variant Uncertain significance 3:38913061-38913061 3:38871570-38871570
35 SCN11A NM_001349253.2(SCN11A): c.3594_3596CTT[1] (p.Phe1200del) short repeat Uncertain significance 3:38913096-38913098 3:38871605-38871607
36 SCN11A NM_001349253.2(SCN11A): c.2770G> A (p.Asp924Asn) single nucleotide variant Uncertain significance 3:38936089-38936089 3:38894598-38894598
37 SCN11A NM_001349253.2(SCN11A): c.2174G> A (p.Arg725His) single nucleotide variant Uncertain significance 3:38938565-38938565 3:38897074-38897074
38 SCN11A NM_001349253.2(SCN11A): c.2124G> A (p.Leu708=) single nucleotide variant Uncertain significance 3:38938615-38938615 3:38897124-38897124
39 SCN11A NM_001349253.2(SCN11A): c.2095G> A (p.Gly699Arg) single nucleotide variant Uncertain significance 3:38938644-38938644 3:38897153-38897153
40 SCN11A NM_001349253.2(SCN11A): c.2093T> C (p.Val698Ala) single nucleotide variant Uncertain significance 3:38938646-38938646 3:38897155-38897155
41 SCN11A NM_001349253.2(SCN11A): c.959+5G> A single nucleotide variant Uncertain significance 3:38961421-38961421 3:38919930-38919930
42 SCN11A NM_001349253.2(SCN11A): c.673del (p.Arg225fs) deletion Uncertain significance 3:38966945-38966945 3:38925454-38925454
43 SCN11A NM_001349253.2(SCN11A): c.233T> C (p.Leu78Pro) single nucleotide variant Uncertain significance 3:38991621-38991621 3:38950130-38950130
44 SCN11A NM_001349253.2(SCN11A): c.134_136del (p.Gly45del) deletion Uncertain significance 3:38991718-38991720 3:38950227-38950229
45 SCN11A NM_001349253.2(SCN11A): c.4837G> A (p.Glu1613Lys) single nucleotide variant Uncertain significance 3:38888724-38888724 3:38847233-38847233
46 SCN11A NM_001349253.2(SCN11A): c.5306C> T (p.Pro1769Leu) single nucleotide variant Uncertain significance 3:38888255-38888255 3:38846764-38846764
47 SCN11A NM_001349253.2(SCN11A): c.5242A> G (p.Met1748Val) single nucleotide variant Uncertain significance 3:38888319-38888319 3:38846828-38846828
48 SCN11A NM_001349253.2(SCN11A): c.5084G> A (p.Gly1695Asp) single nucleotide variant Uncertain significance 3:38888477-38888477 3:38846986-38846986
49 SCN11A NM_001349253.2(SCN11A): c.5036G> A (p.Arg1679His) single nucleotide variant Uncertain significance 3:38888525-38888525 3:38847034-38847034
50 SCN11A NM_001349253.2(SCN11A): c.5015T> C (p.Leu1672Ser) single nucleotide variant Uncertain significance 3:38888546-38888546 3:38847055-38847055

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

74
# 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

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

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Vii

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