MCID: SPN356
MIFTS: 21

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 56 52
Bedouin Spastic Ataxia Syndrome 56 52 58
Mousa Al Din Al Nassar Syndrome 52 71
Spastic Ataxia, Macular Corneal Dystrophy, Congenital Cataracts, Myopia and Vertically Oval Temporally Tilted Discs 52
Spastic Ataxia-Corneal Dystrophy Syndrome 58
Spastic Ataxia-Ocular Anomalies Syndrome 58
Mousa-Al Din-Al Nassar Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
spastic ataxia-corneal dystrophy syndrome
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

OMIM 56 271320
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 72 C1849085
Orphanet 58 ORPHA2572
MedGen 41 C1849085
UMLS 71 C1849085

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

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2572 Definition Spastic ataxia -corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract , macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986. Visit the Orphanet disease page for more resources.

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

Wikipedia : 74 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 macular dystrophy, corneal 10.7
2 ataxia and polyneuropathy, adult-onset 10.7
3 spastic ataxia 10.7
4 myopia 10.7
5 corneal dystrophy 10.7
6 cataract 10.7
7 spinocerebellar degeneration 10.7

Graphical network of the top 20 diseases related to Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia:



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

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

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

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001131
2 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
3 developmental cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000519
4 spastic ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002497
5 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
6 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
7 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
8 hemiplegia/hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0004374
9 decreased antibody level in blood 58 31 frequent (33%) Frequent (79-30%) HP:0004313
10 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
11 spinocerebellar tract degeneration 58 31 frequent (33%) Frequent (79-30%) HP:0002503
12 ataxia 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 61 56
3465874 1986
2
Familial spinocerebellar degeneration with corneal dystrophy. 56
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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