MCID: CRB179
MIFTS: 8

Cerebellar Ataxia, Benign, with Thermoanalgesia

Aliases & Classifications for Cerebellar Ataxia, Benign, with Thermoanalgesia

MalaCards integrated aliases for Cerebellar Ataxia, Benign, with Thermoanalgesia:

Name: Cerebellar Ataxia, Benign, with Thermoanalgesia 57
Cerebellar Ataxia with Loss of Pain and Temperature Sensation 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cerebellar ataxia, benign, with thermoanalgesia:
Onset and clinical course late onset
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 212890
MedGen 42 C1859303
SNOMED-CT via HPO 69 258211005 230233000

Summaries for Cerebellar Ataxia, Benign, with Thermoanalgesia

MalaCards based summary : Cerebellar Ataxia, Benign, with Thermoanalgesia, is also known as cerebellar ataxia with loss of pain and temperature sensation. Related phenotypes are progressive cerebellar ataxia and axonal loss

Description from OMIM: 212890

Related Diseases for Cerebellar Ataxia, Benign, with Thermoanalgesia

Symptoms & Phenotypes for Cerebellar Ataxia, Benign, with Thermoanalgesia

Symptoms via clinical synopsis from OMIM:

57
Neuro:
cerebellar ataxia, late-onset, slow progression
thermoanalgesia
proprioception and autonomic function normal

Lab:
axon loss in sural nerve biopsy


Clinical features from OMIM:

212890

Human phenotypes related to Cerebellar Ataxia, Benign, with Thermoanalgesia:

32
# Description HPO Frequency HPO Source Accession
1 progressive cerebellar ataxia 32 HP:0002073
2 axonal loss 32 HP:0003447
3 impaired temperature sensation 32 HP:0010829

Drugs & Therapeutics for Cerebellar Ataxia, Benign, with Thermoanalgesia

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia, Benign, with Thermoanalgesia

Genetic Tests for Cerebellar Ataxia, Benign, with Thermoanalgesia

Anatomical Context for Cerebellar Ataxia, Benign, with Thermoanalgesia

Publications for Cerebellar Ataxia, Benign, with Thermoanalgesia

Variations for Cerebellar Ataxia, Benign, with Thermoanalgesia

Expression for Cerebellar Ataxia, Benign, with Thermoanalgesia

Search GEO for disease gene expression data for Cerebellar Ataxia, Benign, with Thermoanalgesia.

Pathways for Cerebellar Ataxia, Benign, with Thermoanalgesia

GO Terms for Cerebellar Ataxia, Benign, with Thermoanalgesia

Sources for Cerebellar Ataxia, Benign, with Thermoanalgesia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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