Hereditary sensory and autonomic neuropathy type 5

General Information (adopted from Orphanet):

Synonyms, Signs: INSENSITIVITY TO PAIN, CONGENITAL
HSAN V
NHSA5
HSAN5
Congenital insensitivity to pain and thermal analgesia
Number of Symptoms 20
OrphanetNr: 64752
OMIM Id: 608654
ICD-10: G60.8
UMLs: C0002768
C0020075
MeSH: D000699
MedDRA:
Snomed: 128206006
403605007

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive hereditary sensory and autonomic neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000742) Self-mutilation 27 / 7739
2
 (HPO:0001256) Intellectual disability, mild rare [HPO:skoehler] 141 / 7739
3
 (HPO:0007021) Pain insensitivity 35 / 7739
4
 (HPO:0002661) Painless fractures due to injury 5 / 7739
5
 (HPO:0001226) Acral ulceration and osteomyelitis leading to autoamputation of digits 4 / 7739
6
 (HPO:0001862) Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) 2 / 7739
7
 (HPO:0000970) Anhidrosis Occasional [HPO] 24 / 7739
8
 (HPO:0001954) Episodic fever rare [HPO] 27 / 7739
9
 (OMIM) Temperature insensitivity, distal, in some patients 1 / 7739
10
 (HPO:0003593) Infantile onset 249 / 7739
11
 (OMIM) Sural nerve biopsy shows selective decrease in small myelinated fibers 1 / 7739
12
 (OMIM) Anhidrosis, patchy, in some patients 1 / 7739
13
 (OMIM) Accidental injury and ulceration of the lips and tongue due to decreased sensation 2 / 7739
14
 (OMIM) Pain insensitivity, distal 1 / 7739
15
 (OMIM) Normal reflexes 1 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (OMIM) Acral ulcers 1 / 7739
18
 (OMIM) Increased body temperature, episodic, in some patients 1 / 7739
19
 (OMIM) Mild reduction in unmyelinated fibers 1 / 7739
20
 (OMIM) Normal large myelinated fiber sensory modalities 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Low et al. (1978) reported a 6-year-old child with congenital sensory neuropathy characterized by a selective loss of pain and thermal sensation affecting the extremities. Nerve conduction studies were normal. Small myelinated fibers were selectively reduced in the ...
Molecular genetics OMIM Einarsdottir et al. (2004) demonstrated that all 3 severely affected family members of the Swedish family with HSAN5 studied by them were homozygous for a 661C-T transition in the gene encoding nerve growth factor-beta (NGFB; 162030). The mutation ...