Polyneuropathy - hand defect

General Information (adopted from Orphanet):

Synonyms, Signs: Hamanishi-Ueba-Tsuji syndrome
Number of Symptoms 14
OrphanetNr: 2926
OMIM Id: 207740
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: Hereditary motor and sensory neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0007021) Pain insensitivity Very frequent [Orphanet] 35 / 7739
2
 (HPO:0001271) Polyneuropathy 56 / 7739
3
 (HPO:0003474) Sensory impairment 54 / 7739
4
 (HPO:0003401) Paresthesia 42 / 7739
5
 (HPO:0003134) Abnormality of peripheral nerve conduction Very frequent [Orphanet] 38 / 7739
6
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
7
 (HPO:0000966) Hypohidrosis 41 / 7739
8
 (HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
9
 (HPO:0003011) Abnormality of the musculature 47 / 7739
10
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
11
 (OMIM) Extensor finger muscles and tendons absent or hypoplastic 1 / 7739
12
 (OMIM) Thumb and fingers, unilateral flexion deformities 1 / 7739
13
 (OMIM) Polyneuropathy, all limbs 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: