NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 608720
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000458) Anosmia 49 / 7739
2
 (HPO:0000224) Decreased taste sensation 6 / 7739
3
 (HPO:0004409) Hyposmia 16 / 7739
4
 (HPO:0002936) Distal sensory impairment 96 / 7739
5
 (HPO:0001278) Orthostatic hypotension 24 / 7739
6
 (HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
7
 (HPO:0009830) Peripheral neuropathy 206 / 7739
8
 (HPO:0000970) Anhidrosis 24 / 7739
9
 (HPO:0040078) Axonal degeneration 10 / 7739
10
 (MedDRA:10001480) Ageusia 1 / 7739
11
 (OMIM) Axonal degeneration 7 / 7739
12
 (HPO:0003581) Adult onset 117 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Less severe loss of unmyelinated fibers 1 / 7739
15
 (OMIM) Sural nerve biopsy shows marked loss of myelinated fibers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: