NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA

General Information (adopted from Orphanet):

Synonyms, Signs: NEUROPATHY, CONGENITAL SENSORY
MORVAN DISEASE
ACROOSTEOLYSIS, NEUROGENIC
NEUROPATHY, HEREDITARY SENSORY, TYPE IIA
ACROOSTEOLYSIS, GIACCAI TYPE
NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE
HSN IIA
NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN
HSAN IIA
HSAN2A
HSN2A
Number of Symptoms 29
OrphanetNr:
OMIM Id: 201300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000224) Decreased taste sensation 6 / 7739
2
(HPO:0001265) Hyporeflexia 208 / 7739
3
(HPO:0001284) Areflexia 198 / 7739
4
(HPO:0003448) Decreased sensory nerve conduction velocity 9 / 7739
5
(HPO:0006121) Acral ulceration leading to autoamputation of digits 3 / 7739
6
(HPO:0002661) Painless fractures due to injury 5 / 7739
7
(HPO:0009771) Osteolytic defects of the phalanges of the hand 17 / 7739
8
(HPO:0011968) Feeding difficulties 240 / 7739
9
(HPO:0002020) Gastroesophageal reflux 101 / 7739
10
(HPO:0001818) Paronychia 6 / 7739
11
(HPO:0001069) Episodic hyperhidrosis 4 / 7739
12
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
13
(HPO:0010547) Muscle flaccidity 466 / 7739
14
(HPO:0001324) Muscle weakness 859 / 7739
15
(HPO:0001252) Muscular hypotonia 990 / 7739
16
(OMIM) Lower limbs more affected than upper limbs 5 / 7739
17
(OMIM) Decreased axonal flare response after intradermal histamine injection 1 / 7739
18
(OMIM) Autonomic involvement does not always occur 1 / 7739
19
(OMIM) Some loss of unmyelinated fibers 1 / 7739
20
(OMIM) Anhidrosis, patchy 1 / 7739
21
(OMIM) Ulcerations of distal extremities 2 / 7739
22
(OMIM) Muscle strength and bulk is preserved 1 / 7739
23
(OMIM) Impaired sensation in distal extremities (pain, temperature, position, touch) 1 / 7739
24
(OMIM) Absence of cutaneous sensory receptors and fibers 1 / 7739
25
(OMIM) Impaired corneal reflex 1 / 7739
26
(OMIM) Trunk may be involved later 1 / 7739
27
(OMIM) Sural nerve biopsy shows severe loss of myelinated fibers 1 / 7739
28
(OMIM) Impaired gag reflex 1 / 7739
29
(OMIM) Neurogenic joint degeneration 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Giaccai (1952) reported 'neurogenic acroosteolysis' in 4 children born of an Arab man who married 2 first cousins. By the first wife, 1 of the children was affected, and by the second wife, 3 of 5 children were ...
Molecular genetics OMIM Among 5 families with HSAN2, including those from Newfoundland reported by Ogryzlo (1946) and patients from rural Quebec and Nova Scotia, Lafreniere et al. (2004) identified 3 different truncating mutations in the HSN2 isoform of the WNK1 gene ...
Population genetics OMIM Clustering of cases of HSAN II in eastern Canada was reported by Murray (1973) and had first been noted in Newfoundland in the early 1900s. The original family members came from Dorset, United Kingdom, approximately 100 years earlier, ...