NEUROPATHY, HEREDITARY SENSORY, TYPE IIC

General Information (adopted from Orphanet):

Synonyms, Signs: HSN2C
Number of Symptoms 17
OrphanetNr:
OMIM Id: 614213
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
2
(HPO:0001284) Areflexia 198 / 7739
3
(HPO:0009830) Peripheral neuropathy 206 / 7739
4
(HPO:0001265) Hyporeflexia 208 / 7739
5
(HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
6
(OMIM) Distal leg muscle atrophy 1 / 7739
7
(OMIM) Decreased or absent motor potentials in the tibial and peroneal nerves 1 / 7739
8
(OMIM) Paralysis of the lower limbs (later) 1 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(HPO:0003676) Progressive disorder 148 / 7739
11
(OMIM) Ulceration and amputation of the toes due to sensory loss 1 / 7739
12
(OMIM) Distal sensory loss, panmodal (retained in some patients) 1 / 7739
13
(OMIM) Spontaneous pain (1 patient) 1 / 7739
14
(OMIM) Equinus deformities (1 patient) 1 / 7739
15
(OMIM) Distal weakness, upper and lower limbs (variable) 1 / 7739
16
(OMIM) Ulceration and amputation of the fingers due to sensory loss 1 / 7739
17
(OMIM) Decreased or absent sensory potentials in the sural, ulnar and median nerves 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the ...
Clinical Description OMIM Riviere et al. (2011) reported 3 sibs, born of consanguineous Afghan parents, with childhood-onset of hereditary sensory neuropathy. Age at onset ranged between 6 and 10 years. The disorder was characterized by distal numbness of the hands and ...
Molecular genetics OMIM By genomewide homozygosity mapping followed by candidate gene analysis in a consanguineous Afghan family with HSN2C, Riviere et al. (2011) identified a homozygous truncating mutation in the KIF1A gene (601255.0002). Screening of this gene in 112 unrelated patients ...