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 58
Cerebellar Ataxia with Loss of Pain and Temperature Sensation 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cerebellar ataxia, benign, with thermoanalgesia:
Onset and clinical course late onset
Inheritance autosomal recessive inheritance


External Ids:

OMIM 58 212890
MedGen 43 C1859303
SNOMED-CT via HPO 70 230233000 258211005

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

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

33
# Description HPO Frequency HPO Source Accession
1 progressive cerebellar ataxia 33 HP:0002073
2 axonal loss 33 HP:0003447
3 impaired temperature sensation 33 HP:0010829

Symptoms via clinical synopsis from OMIM:

58
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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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