DMDA2
MCID: ATS277
MIFTS: 36

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d (DMDA2)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d:

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 12 15
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2 12
Muscular Dystrophy, Limb-Girdle, Type 2d 12
Alpha-Sarcoglycanopathy 12
Primary Adhalinopathy 12
Lgmd2d 12
Dmda2 12

Classifications:



Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA; 600119) on chromosome 17q.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d, also known as duchenne-like autosomal recessive muscular dystrophy type 2, is related to bethlem myopathy 1 and myopathy. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d is SGCA (Sarcoglycan Alpha), and among its related pathways/superpathways are Allograft rejection and Dilated cardiomyopathy (DCM). Related phenotypes are hyperlordosis and achilles tendon contracture

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x Limb-Girdle Muscular Dystrophy Type 1a
Limb-Girdle Muscular Dystrophy Type 1b Limb-Girdle Muscular Dystrophy Type 1c

Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 bethlem myopathy 1 29.7 DYSF CAPN3
2 myopathy 29.3 MYOT DYSF CAPN3
3 autosomal recessive limb-girdle muscular dystrophy 29.0 SGCG SGCD SGCA DYSF CAPN3
4 muscular dystrophy 28.3 SGCG SGCD SGCB SGCA MYOT DYSF
5 limb-girdle muscular dystrophy 28.1 SGCG SGCD SGCB SGCA MYOT DYSF
6 muscular dystrophy, limb-girdle, autosomal recessive 3 11.6
7 muscular dystrophy, duchenne type 10.1
8 myoglobinuria 10.1
9 muscular dystrophy, congenital, lmna-related 10.1
10 cardiomyopathy, dilated, 3b 10.0 SGCD SGCA
11 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 SGCB DYSF
12 muscular dystrophy, becker type 9.9 SGCA DYSF
13 muscular dystrophy, limb-girdle, autosomal recessive 8 9.9 DYSF CAPN3
14 dysferlinopathy 9.9 DYSF CAPN3
15 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 DYSF CAPN3
16 muscular dystrophy, limb-girdle, autosomal dominant 1 9.8 SGCB MYOT
17 myositis 9.6 DYSF CAPN3
18 dilated cardiomyopathy 9.6 SGCG SGCD SGCB SGCA
19 autosomal recessive limb-girdle muscular dystrophy type 2j 9.5 SGCB MYOT CAPN3
20 muscular dystrophy, limb-girdle, autosomal recessive 7 9.5 MYOT DYSF CAPN3
21 miyoshi muscular dystrophy 9.5 MYOT DYSF CAPN3
22 autosomal recessive limb-girdle muscular dystrophy type 2h 9.3 SGCG SGCB MYOT CAPN3
23 autosomal recessive limb-girdle muscular dystrophy type 2b 9.3 SGCG SGCB SGCA DYSF CAPN3
24 muscular dystrophy, limb-girdle, autosomal recessive 2 9.0 SGCB SGCA MYOT DYSF CAPN3
25 autosomal recessive limb-girdle muscular dystrophy type 2g 9.0 SGCG SGCB MYOT DYSF CAPN3
26 autosomal recessive limb-girdle muscular dystrophy type 2f 9.0 SGCG SGCD SGCB SGCA DYSF CAPN3
27 autosomal recessive limb-girdle muscular dystrophy type 2c 9.0 SGCG SGCD SGCB SGCA DYSF CAPN3
28 muscular dystrophy, limb-girdle, autosomal recessive 6 9.0 SGCG SGCD SGCB SGCA DYSF CAPN3
29 autosomal recessive limb-girdle muscular dystrophy type 2a 8.8 SGCG SGCB SGCA MYOT DYSF CAPN3
30 muscle tissue disease 8.7 SGCG SGCD SGCA MYOT DYSF CAPN3
31 muscular disease 8.5 SGCG SGCD SGCB SGCA MYOT DYSF

Graphical network of the top 20 diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d:



Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Human phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hyperlordosis 33 frequent (33%) HP:0003307
2 achilles tendon contracture 33 frequent (33%) HP:0001771
3 waddling gait 33 frequent (33%) HP:0002515
4 scapular winging 33 frequent (33%) HP:0003691
5 toe walking 33 frequent (33%) HP:0040083
6 muscular dystrophy 33 frequent (33%) HP:0003560
7 frequent falls 33 frequent (33%) HP:0002359
8 gowers sign 33 frequent (33%) HP:0003391
9 difficulty climbing stairs 33 frequent (33%) HP:0003551
10 calf muscle pseudohypertrophy 33 frequent (33%) HP:0003707
11 limited shoulder movement 33 frequent (33%) HP:0006467
12 elevated serum creatine kinase 33 frequent (33%) HP:0003236
13 thoracic scoliosis 33 occasional (7.5%) HP:0002943

MGI Mouse Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 CAPN3 SGCA SGCB SGCD SGCG
2 muscle MP:0005369 9.1 CAPN3 DYSF SGCA SGCB SGCD SGCG

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d:

# Title Authors Year
1
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. ( 9153448 )
1997
2
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. ( 7663524 )
1995

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Search GEO for disease gene expression data for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d.

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Cellular components related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.91 CAPN3 DYSF MYOT SGCA SGCB SGCD
2 cytoskeleton GO:0005856 9.72 MYOT SGCA SGCB SGCD SGCG
3 sarcoglycan complex GO:0016012 9.46 SGCA SGCB SGCD SGCG
4 Z disc GO:0030018 9.43 CAPN3 MYOT
5 dystrophin-associated glycoprotein complex GO:0016010 9.43 SGCA SGCB SGCD
6 T-tubule GO:0030315 9.4 CAPN3 DYSF
7 dystroglycan complex GO:0016011 9.26 SGCA SGCB SGCD SGCG
8 sarcolemma GO:0042383 9.1 DYSF MYOT SGCA SGCB SGCD SGCG

Biological processes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal muscle tissue regeneration GO:0043403 9.32 DYSF SGCA
2 heart contraction GO:0060047 9.26 SGCD SGCG
3 muscle fiber development GO:0048747 9.16 DYSF SGCB
4 muscle contraction GO:0006936 9.13 DYSF MYOT SGCA
5 muscle organ development GO:0007517 9.02 CAPN3 SGCA SGCB SGCD SGCG

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.13 CAPN3 DYSF SGCA
2 structural constituent of muscle GO:0008307 8.62 CAPN3 MYOT

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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