SCA32
MCID: SPN259
MIFTS: 19

Spinocerebellar Ataxia 32 (SCA32)

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

Aliases & Classifications for Spinocerebellar Ataxia 32

MalaCards integrated aliases for Spinocerebellar Ataxia 32:

Name: Spinocerebellar Ataxia 32 57 13 70
Sca32 57 58
Cerebellar Ataxia with Azoospermia and Intellectual Disability 58
Spinocerebellar Ataxia Type 32 58

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 32
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
spinocerebellar ataxia 32:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 613909
OMIM Phenotypic Series 57 PS164400
ICD10 via Orphanet 33 G11.8
Orphanet 58 ORPHA276183
MedGen 41 C3151343
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Spinocerebellar Ataxia 32, is also known as sca32, and has symptoms including cerebellar ataxia Affiliated tissues include brain, and related phenotypes are cognitive impairment and azoospermia

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 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 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia 32

Human phenotypes related to Spinocerebellar Ataxia 32:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
2 azoospermia 58 31 frequent (33%) Frequent (79-30%) HP:0000027
3 testicular atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000029
4 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
5 male infertility 58 31 frequent (33%) Frequent (79-30%) HP:0003251
6 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
7 ataxia 31 HP:0001251
8 infertility 31 HP:0000789

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
azoospermia
testicular atrophy
infertility
absence of germ cells and progenitors seen on biopsy

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

Clinical features from OMIM®:

613909 (Updated 05-Apr-2021)

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

MalaCards organs/tissues related to Spinocerebellar Ataxia 32:

40
Brain

Publications for Spinocerebellar Ataxia 32

Articles related to Spinocerebellar Ataxia 32:

# Title Authors PMID Year
1
RNA FISH for detecting expanded repeats in human diseases. 61
26615955 2016
2
Brain pathology of spinocerebellar ataxias. 61
22684686 2012

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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