NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII

General Information (adopted from Orphanet):

Synonyms, Signs: HSAN VII
INSENSITIVITY TO PAIN, CONGENITAL, WITH GASTROINTESTINAL DYSFUNCTION AND HYPERHIDROSIS
HSAN7
Number of Symptoms 16
OrphanetNr:
OMIM Id: 615548
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007328) Impaired pain sensation 10 / 7739
2
(HPO:0001270) Motor delay 322 / 7739
3
(HPO:0002459) Dysautonomia 34 / 7739
4
(HPO:0007021) Pain insensitivity 35 / 7739
5
(HPO:0002014) Diarrhea 225 / 7739
6
(HPO:0002019) Constipation 194 / 7739
7
(HPO:0000975) Hyperhidrosis 64 / 7739
8
(HPO:0001324) Muscle weakness 859 / 7739
9
(OMIM) Inability to feel pain 1 / 7739
10
(OMIM) Gastrointestinal dysfunction 1 / 7739
11
(OMIM) Self injury 1 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(OMIM) Painless fractures 2 / 7739
14
(OMIM) Slow-healing wounds due to painless injuries 1 / 7739
15
(OMIM) Delayed motor development, mild 2 / 7739
16
(OMIM) Mild muscle weakness 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Leipold et al. (2013) reported 2 unrelated patients, a German girl and a Swedish boy, with hereditary sensory and autonomic neuropathy. The clinical history of both affected individuals was remarkably similar, involving a congenital inability to experience pain ...
Molecular genetics OMIM In 2 unrelated patients with HSAN7, Leipold et al. (2013) identified the same de novo heterozygous missense mutation in the SCN11A gene (L811P; 604385.0001). The mutation in the first patient was found by whole-exome sequencing. The second mutation ...