NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB

General Information (adopted from Orphanet):

Synonyms, Signs: HSAN2B
Number of Symptoms 18
OrphanetNr:
OMIM Id: 613115
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000020) Urinary incontinence 75 / 7739
2
(HPO:0001265) Hyporeflexia 208 / 7739
3
(HPO:0001284) Areflexia 198 / 7739
4
(HPO:0003477) Peripheral axonal neuropathy 62 / 7739
5
(HPO:0001257) Spasticity 251 / 7739
6
(HPO:0002754) Osteomyelitis 37 / 7739
7
(HPO:0006121) Acral ulceration leading to autoamputation of digits 3 / 7739
8
(HPO:0009771) Osteolytic defects of the phalanges of the hand 17 / 7739
9
(HPO:0001069) Episodic hyperhidrosis 4 / 7739
10
(OMIM) Sural nerve biopsy shows axonal neuropathy 1 / 7739
11
(HPO:0003621) Juvenile onset 105 / 7739
12
(OMIM) Impaired pupillary response to light 1 / 7739
13
(OMIM) Spasticity has been reported in 1 family 1 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(OMIM) Loss of small myelinated fibers 1 / 7739
16
(HPO:0003676) Progressive disorder 148 / 7739
17
(OMIM) Impaired sensation in distal extremities, particularly pain and temperature (lower limbs more affected than upper limbs) 1 / 7739
18
(OMIM) Ulcerations of distal extremities 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kurth et al. (2009) reported 4 unrelated families with autosomal recessive inheritance of hereditary sensory and autonomic neuropathy. The families were from Saudi Arabia, Turkey, Italy, and Dubai; 2 families were known to be consanguineous. Onset occurred in ...
Molecular genetics OMIM In affected members of 4 unrelated families with hereditary sensory and autonomic neuropathy type IIB, Kurth et al. (2009) identified 4 different homozygous truncating loss-of-function mutations in the FAM134B gene (613114.0001-613114.0004).