MCID: SPN356
MIFTS: 18

Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinocerebellar Degeneration with Macular Corneal Dystrophy,...

MalaCards integrated aliases for Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia:

Name: Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 57
Bedouin Spastic Ataxia Syndrome 57 59
Spastic Ataxia-Corneal Dystrophy Syndrome 59
Spastic Ataxia-Ocular Anomalies Syndrome 59
Mousa Al Din Al Nassar Syndrome 72
Mousa-Al Din-Al Nassar Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
spastic ataxia-corneal dystrophy syndrome
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 271320
ICD10 via Orphanet 34 G11.8
UMLS via Orphanet 73 C1849085
Orphanet 59 ORPHA2572
MedGen 42 C1849085
UMLS 72 C1849085

Summaries for Spinocerebellar Degeneration with Macular Corneal Dystrophy,...

MalaCards based summary : Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia, also known as bedouin spastic ataxia syndrome, is related to mousa al din al nassar syndrome. Affiliated tissues include eye and cerebellum, and related phenotypes are corneal dystrophy and myopia

Wikipedia : 75 Spastic ataxia-corneal dystrophy syndrome (also known as Bedouin spastic ataxia syndrome) is an... more...

More information from OMIM: 271320

Related Diseases for Spinocerebellar Degeneration with Macular Corneal Dystrophy,...

Diseases related to Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mousa al din al nassar syndrome 11.8

Symptoms & Phenotypes for Spinocerebellar Degeneration with Macular Corneal Dystrophy,...

Human phenotypes related to Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001131
2 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
3 spastic ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002497
4 developmental cataract 32 hallmark (90%) HP:0000519
5 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
6 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
7 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
8 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
9 decreased antibody level in blood 59 32 frequent (33%) Frequent (79-30%) HP:0004313
10 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
11 spinocerebellar tract degeneration 59 32 frequent (33%) Frequent (79-30%) HP:0002503
12 ataxia 59 Very frequent (99-80%)
13 congenital cataract 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spastic ataxia
spinocerebellar degeneration

Head And Neck Eyes:
congenital cataracts
macular corneal dystrophy
nonaxial myopia

Clinical features from OMIM:

271320

Drugs & Therapeutics for Spinocerebellar Degeneration with Macular Corneal Dystrophy,...

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia

Genetic Tests for Spinocerebellar Degeneration with Macular Corneal Dystrophy,...

Anatomical Context for Spinocerebellar Degeneration with Macular Corneal Dystrophy,...

MalaCards organs/tissues related to Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia:

41
Eye, Cerebellum

Publications for Spinocerebellar Degeneration with Macular Corneal Dystrophy,...

Articles related to Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia:

# Title Authors PMID Year
1
Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family--a new syndrome. 8
3465874 1986
2
Familial spinocerebellar degeneration with corneal dystrophy. 8
3872072 1985

Variations for Spinocerebellar Degeneration with Macular Corneal Dystrophy,...

Expression for Spinocerebellar Degeneration with Macular Corneal Dystrophy,...

Search GEO for disease gene expression data for Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia.

Pathways for Spinocerebellar Degeneration with Macular Corneal Dystrophy,...

GO Terms for Spinocerebellar Degeneration with Macular Corneal Dystrophy,...

Sources for Spinocerebellar Degeneration with Macular Corneal Dystrophy,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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