MCID: ATS277
MIFTS: 32

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

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 25 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 33)
# Related Disease Score Top Affiliating Genes
1 bethlem myopathy 1 29.7 CAPN3 DYSF
2 myopathy 29.3 CAPN3 DYSF MYOT
3 autosomal recessive limb-girdle muscular dystrophy 29.0 CAPN3 DYSF SGCA SGCD SGCG
4 muscular dystrophy 28.2 CAPN3 DYSF MYOT SGCA SGCB SGCD
5 limb-girdle muscular dystrophy 27.8 CAPN3 DYSF MYOT SGCA SGCB SGCD
6 muscular dystrophy, limb-girdle, autosomal recessive 3 11.7
7 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
8 muscular dystrophy, duchenne type 10.1
9 myoglobinuria 10.1
10 muscular dystrophy, limb-girdle, autosomal recessive 5 10.1
11 muscular dystrophy, congenital, lmna-related 10.1
12 cardiomyopathy, dilated, 3b 10.0 SGCA SGCD
13 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 DYSF SGCB
14 muscular dystrophy, becker type 9.9 DYSF SGCA
15 muscular dystrophy, limb-girdle, autosomal recessive 8 9.9 CAPN3 DYSF
16 dysferlinopathy 9.9 CAPN3 DYSF
17 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 CAPN3 DYSF
18 muscular dystrophy, limb-girdle, autosomal dominant 1 9.8 MYOT SGCB
19 myositis 9.6 CAPN3 DYSF
20 dilated cardiomyopathy 9.6 SGCA SGCB SGCD SGCG
21 autosomal recessive limb-girdle muscular dystrophy type 2j 9.5 CAPN3 MYOT SGCB
22 muscular dystrophy, limb-girdle, autosomal recessive 7 9.5 CAPN3 DYSF MYOT
23 miyoshi muscular dystrophy 9.5 CAPN3 DYSF MYOT
24 autosomal recessive limb-girdle muscular dystrophy type 2h 9.3 CAPN3 MYOT SGCB SGCG
25 autosomal recessive limb-girdle muscular dystrophy type 2b 9.3 CAPN3 DYSF SGCA SGCB SGCG
26 muscular dystrophy, limb-girdle, autosomal recessive 2 9.0 CAPN3 DYSF MYOT SGCA SGCB
27 autosomal recessive limb-girdle muscular dystrophy type 2g 9.0 CAPN3 DYSF MYOT SGCB SGCG
28 muscular dystrophy, limb-girdle, autosomal recessive 6 9.0 CAPN3 DYSF SGCA SGCB SGCD SGCG
29 autosomal recessive limb-girdle muscular dystrophy type 2c 9.0 CAPN3 DYSF SGCA SGCB SGCD SGCG
30 autosomal recessive limb-girdle muscular dystrophy type 2f 9.0 CAPN3 DYSF SGCA SGCB SGCD SGCG
31 autosomal recessive limb-girdle muscular dystrophy type 2a 8.8 CAPN3 DYSF MYOT SGCA SGCB SGCG
32 muscle tissue disease 8.8 CAPN3 DYSF MYOT SGCA SGCD SGCG
33 muscular disease 8.5 CAPN3 DYSF MYOT 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:

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 frequent falls 33 frequent (33%) HP:0002359
7 muscular dystrophy 33 frequent (33%) HP:0003560
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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