DMDA2
MCID: ATS277
MIFTS: 39

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 muscular dystrophy. 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). Affiliated tissues include brain and eye, and related phenotypes are hyperlordosis and elevated serum creatine phosphokinase

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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 bethlem myopathy 1 29.8 CAPN3 DYSF
2 muscular dystrophy 29.0 CAPN3 DYSF FKRP SGCA SGCB SGCD
3 autosomal recessive limb-girdle muscular dystrophy 28.9 CAPN3 DYSF FKRP SGCA SGCD SGCG
4 limb-girdle muscular dystrophy 28.6 CAPN3 DYSF FKRP SGCA SGCB SGCD
5 muscular dystrophy, limb-girdle, autosomal recessive 3 11.6
6 muscular dystrophy, duchenne type 10.1
7 myoglobinuria 10.1
8 myopathy 10.1
9 cardiomyopathy, dilated, 3b 10.0 SGCA SGCD
10 muscular dystrophy, congenital, lmna-related 10.0
11 paresthesia 10.0 CAPN3 FKRP
12 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 CAPN3 FKRP
13 isolated hyperckemia 10.0 CAPN3 FKRP
14 muscle eye brain disease 10.0 FKRP SGCA
15 autosomal dominant limb-girdle muscular dystrophy type 1a 9.9 CAPN3 FKRP
16 muscular dystrophy, becker type 9.9 DYSF SGCA
17 autosomal dominant limb-girdle muscular dystrophy type 1c 9.9 DYSF FKRP
18 walker-warburg syndrome 9.8 FKRP SGCA
19 autosomal recessive limb-girdle muscular dystrophy type 2j 9.8 CAPN3 FKRP SGCB
20 dysferlinopathy 9.8 CAPN3 DYSF
21 miyoshi muscular dystrophy 9.8 CAPN3 DYSF
22 autosomal recessive limb-girdle muscular dystrophy type 2l 9.7 DYSF FKRP SGCB
23 myositis 9.7 CAPN3 DYSF
24 muscular dystrophy, limb-girdle, autosomal recessive 8 9.7 CAPN3 DYSF FKRP
25 muscular dystrophy, limb-girdle, autosomal recessive 7 9.7 CAPN3 DYSF FKRP
26 muscular dystrophy-dystroglycanopathy , type c, 5 9.7 CAPN3 DYSF FKRP
27 autosomal recessive limb-girdle muscular dystrophy type 2h 9.7 CAPN3 FKRP SGCB SGCG
28 autosomal recessive limb-girdle muscular dystrophy type 2g 9.6 CAPN3 DYSF SGCB SGCG
29 dilated cardiomyopathy 9.5 FKRP SGCA SGCB SGCD SGCG
30 autosomal recessive limb-girdle muscular dystrophy type 2b 9.4 CAPN3 DYSF SGCA SGCB SGCG
31 muscular dystrophy, limb-girdle, autosomal recessive 2 9.4 CAPN3 DYSF FKRP SGCA SGCB
32 autosomal recessive limb-girdle muscular dystrophy type 2a 9.2 CAPN3 DYSF FKRP SGCA SGCB SGCG
33 autosomal recessive limb-girdle muscular dystrophy type 2c 9.2 CAPN3 DYSF SGCA SGCB SGCD SGCG
34 autosomal recessive limb-girdle muscular dystrophy type 2f 9.2 CAPN3 DYSF SGCA SGCB SGCD SGCG
35 muscle tissue disease 9.2 CAPN3 DYSF FKRP SGCA SGCD SGCG
36 muscular dystrophy, limb-girdle, autosomal recessive 6 9.1 CAPN3 DYSF FKRP SGCA SGCB SGCD
37 muscular disease 9.0 CAPN3 DYSF FKRP SGCA SGCB SGCD

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:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hyperlordosis 32 frequent (33%) HP:0003307
2 elevated serum creatine phosphokinase 32 frequent (33%) HP:0003236
3 achilles tendon contracture 32 frequent (33%) HP:0001771
4 waddling gait 32 frequent (33%) HP:0002515
5 scapular winging 32 frequent (33%) HP:0003691
6 toe walking 32 frequent (33%) HP:0040083
7 muscular dystrophy 32 frequent (33%) HP:0003560
8 frequent falls 32 frequent (33%) HP:0002359
9 gowers sign 32 frequent (33%) HP:0003391
10 difficulty climbing stairs 32 frequent (33%) HP:0003551
11 calf muscle pseudohypertrophy 32 frequent (33%) HP:0003707
12 limited shoulder movement 32 frequent (33%) HP:0006467
13 thoracic scoliosis 32 occasional (7.5%) HP:0002943

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 CAPN3 FKRP SGCA SGCB SGCD SGCG
2 homeostasis/metabolism MP:0005376 9.43 CAPN3 DYSF FKRP SGCA SGCD SGCG
3 muscle MP:0005369 9.17 CAPN3 DYSF FKRP SGCA SGCB SGCD

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

MalaCards organs/tissues related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d:

41
Brain, Eye

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 integral component of membrane GO:0016021 9.91 DYSF FKRP SGCA SGCB SGCD SGCG
2 plasma membrane GO:0005886 9.87 CAPN3 DYSF FKRP SGCA SGCB SGCD
3 cytoskeleton GO:0005856 9.71 SGCA SGCB SGCD SGCG
4 dystrophin-associated glycoprotein complex GO:0016010 9.56 FKRP SGCA SGCB SGCD
5 sarcoglycan complex GO:0016012 9.46 SGCA SGCB SGCD SGCG
6 T-tubule GO:0030315 9.37 CAPN3 DYSF
7 dystroglycan complex GO:0016011 9.26 SGCA SGCB SGCD SGCG
8 sarcolemma GO:0042383 9.1 DYSF FKRP 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 muscle contraction GO:0006936 9.32 DYSF SGCA
2 skeletal muscle tissue regeneration GO:0043403 9.26 DYSF SGCA
3 heart contraction GO:0060047 9.16 SGCD SGCG
4 muscle organ development GO:0007517 9.02 CAPN3 SGCA SGCB SGCD SGCG
5 muscle fiber development GO:0048747 8.96 DYSF SGCB

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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