CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBELLAR ATAXIA WITH LOSS OF PAIN AND TEMPERATURE SENSATION
Number of Symptoms 9
OrphanetNr:
OMIM Id: 212890
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:0003447) Axonal loss 11 / 7739
2
(HPO:0010829) Impaired temperature sensation 5 / 7739
3
(HPO:0002073) Progressive cerebellar ataxia 27 / 7739
4
(OMIM) Cerebellar ataxia, late-onset, slow progression 1 / 7739
5
(OMIM) Proprioception and autonomic function normal 1 / 7739
6
(OMIM) Axon loss in sural nerve biopsy 1 / 7739
7
(OMIM) Thermoanalgesia 1 / 7739
8
(HPO:0003584) Late onset 10 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pollock and Kies (1990) described a New Zealand family in which 3 sisters suffered from late-onset cerebellar ataxia distinguished from other forms by the development of nearly global thermoanalgesia. Because proprioception and autonomic function were preserved, and the ...