MCID: SPN259
MIFTS: 21

Spinocerebellar Ataxia 32

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases

Aliases & Classifications for Spinocerebellar Ataxia 32

MalaCards integrated aliases for Spinocerebellar Ataxia 32:

Name: Spinocerebellar Ataxia 32 57 13 73
Sca32 57 59
Cerebellar Ataxia with Azoospermia and Intellectual Disability 59
Spinocerebellar Ataxia Type 32 59

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 32
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
broad range of onset, particularly among females
one chinese family has been reported with limited clinical information (last curated april 2011)


HPO:

32
spinocerebellar ataxia 32:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613909
Orphanet 59 ORPHA276183
ICD10 via Orphanet 34 G11.8
MedGen 42 C3151343
UMLS 73 C3151343

Summaries for Spinocerebellar Ataxia 32

OMIM : 57 Spinocerebellar ataxia-32 (SCA32) is an autosomal dominant neurologic disorder characterized by ataxia, variable mental impairment, and azoospermia in males (summary by Jiang et al., 2010). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (613909)

MalaCards based summary : Spinocerebellar Ataxia 32, also known as sca32, is related to autosomal dominant cerebellar ataxia, and has symptoms including cerebellar ataxia An important gene associated with Spinocerebellar Ataxia 32 is SCA32 (Spinocerebellar Ataxia 32). Related phenotypes are azoospermia and testicular atrophy

Related Diseases for Spinocerebellar Ataxia 32

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia, Autosomal Recessive 4 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia 32 Spinocerebellar Ataxia 36
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 40 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia, Autosomal Recessive 20
Spinocerebellar Ataxia 41 Spinocerebellar Ataxia, Autosomal Recessive 21
Spinocerebellar Ataxia 42 Spinocerebellar Ataxia, Autosomal Recessive 22
Spinocerebellar Ataxia, Autosomal Recessive 23 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive 24 Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 26 Spinocerebellar Ataxia 44
Spinocerebellar Ataxia 45 Spinocerebellar Ataxia 46
Spinocerebellar Ataxia 47 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 32 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 10.9

Symptoms & Phenotypes for Spinocerebellar Ataxia 32

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
infertility
azoospermia
testicular atrophy
absence of germ cells and progenitors seen on biopsy

Neurologic Central Nervous System:
cerebellar ataxia
cognitive impairment in individuals with onset before age 40
cerebellar atrophy


Clinical features from OMIM:

613909

Human phenotypes related to Spinocerebellar Ataxia 32:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 testicular atrophy 32 HP:0000029
3 infertility 32 HP:0000789
4 ataxia 32 HP:0001251
5 cerebellar atrophy 32 HP:0001272

UMLS symptoms related to Spinocerebellar Ataxia 32:


cerebellar ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 32

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 32

Genetic Tests for Spinocerebellar Ataxia 32

Anatomical Context for Spinocerebellar Ataxia 32

Publications for Spinocerebellar Ataxia 32

Variations for Spinocerebellar Ataxia 32

Expression for Spinocerebellar Ataxia 32

Search GEO for disease gene expression data for Spinocerebellar Ataxia 32.

Pathways for Spinocerebellar Ataxia 32

GO Terms for Spinocerebellar Ataxia 32

Sources for Spinocerebellar Ataxia 32

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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