MDDGA
MCID: CNG546
MIFTS: 17

Congenital Muscular Dystrophy-Dystroglycanopathy Type a (MDDGA)

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

Aliases & Classifications for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy Type a:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type a 12
Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies 12 52 58 6
Mddga 12 52 58
Lissencephaly Type 2 with Muscular and Ocular Involvement 52 58
Klissencephaly Type 2 with Muscular and Ocular Involvement 12

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111229
Orphanet 58 ORPHA352687

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has material basis in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type a, also known as congenital muscular alpha-dystroglycanopathy with brain and eye anomalies, is related to walker-warburg syndrome and muscular dystrophy-dystroglycanopathy , type a, 4. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type a is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)). Affiliated tissues include eye and brain.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Congenital Muscular Dystrophy-Dystroglycanopathy Type a Congenital Muscular Dystrophy-Dystroglycanopathy Type A11
Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9
Congenital Muscular Dystrophy-Dystroglycanopathy A14 Congenital Muscular Dystrophy-Dystroglycanopathy A7
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 walker-warburg syndrome 11.9
2 muscular dystrophy-dystroglycanopathy , type a, 4 11.5
3 congenital muscular dystrophy-dystroglycanopathy type a11 11.5
4 congenital muscular dystrophy-dystroglycanopathy type a8 11.5
5 congenital muscular dystrophy-dystroglycanopathy type a9 11.5
6 congenital muscular dystrophy-dystroglycanopathy a14 11.5
7 congenital muscular dystrophy-dystroglycanopathy a7 11.5
8 congenital muscular dystrophy-dystroglycanopathy type a12 11.5
9 congenital muscular dystrophy-dystroglycanopathy type a3 11.5
10 congenital muscular dystrophy-dystroglycanopathy type a1 11.5
11 congenital muscular dystrophy-dystroglycanopathy type a13 11.5
12 congenital muscular dystrophy-dystroglycanopathy type a10 11.5
13 congenital muscular dystrophy-dystroglycanopathy type a2 11.5
14 congenital muscular dystrophy-dystroglycanopathy type a5 11.5
15 congenital muscular dystrophy-dystroglycanopathy type a6 11.5
16 optic nerve hypoplasia, bilateral 10.3
17 strabismus 10.3
18 muscular dystrophy-dystroglycanopathy , type a, 3 10.3
19 muscular dystrophy, congenital, lmna-related 10.3
20 muscular dystrophy-dystroglycanopathy 10.3
21 monocular esotropia 10.3
22 mechanical strabismus 10.3
23 pathologic nystagmus 10.3
24 esotropia 10.3
25 muscular dystrophy 10.3
26 congenital muscular dystrophy due to dystroglycanopathy 10.3
27 spasticity 10.3
28 qualitative or quantitative defects of alpha-dystroglycan 10.3

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type a:



Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy Type a:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Articles related to Congenital Muscular Dystrophy-Dystroglycanopathy Type a:

# Title Authors PMID Year
1
Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. 61
29555514 2018

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type a:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POMGNT1 NM_017739.3(POMGNT1):c.1539+1G>ASNV Pathogenic 56582 rs138642840 1:46657769-46657769 1:46192097-46192097
2 POMT2 NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs)indel Likely pathogenic 436383 rs1555356398 14:77786975-77786976 14:77320632-77320633

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy Type a.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

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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