MCID: ATS280
MIFTS: 33

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

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

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

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

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 12 15
Limb-Girdle Muscular Dystrophy Due to Trim32 Deficiency 12
Limb-Girdle Muscular Dystrophy Type 2h 74
Muscular Dystrophy Hutterite Type 12
Sarcotubular Myopathy 12
Lgmd2h 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110282
ICD10 34 G71.0
UMLS 74 C0270968

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

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h, also known as limb-girdle muscular dystrophy due to trim32 deficiency, is related to muscular dystrophy, limb-girdle, autosomal recessive 8 and muscular dystrophy-dystroglycanopathy , type c, 5, and has symptoms including waddling gait, exercise-induced myalgia and quadriceps muscle weakness. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h is TRIM32 (Tripartite Motif Containing 32), and among its related pathways/superpathways is Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include skeletal muscle, and related phenotypes are myopathy and emg abnormality

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

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 2h via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 8 31.9 CAPN3 DYSF FKRP TRIM32
2 muscular dystrophy-dystroglycanopathy , type c, 5 29.5 CAPN3 DYSF FKRP TRIM32
3 muscular dystrophy 28.3 CAPN3 DYSF FKRP SGCB SGCG TRIM32
4 limb-girdle muscular dystrophy 28.3 CAPN3 DYSF FKRP SGCB SGCG TRIM32
5 reducing body myopathy 11.3
6 myopathy 10.1
7 paresthesia 10.1 CAPN3 FKRP
8 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 CAPN3 FKRP
9 isolated hyperckemia 10.0 CAPN3 FKRP
10 dysferlinopathy 9.9 CAPN3 DYSF
11 miyoshi muscular dystrophy 9.9 CAPN3 DYSF
12 bethlem myopathy 1 9.9 CAPN3 DYSF
13 myositis 9.8 CAPN3 DYSF
14 autosomal recessive limb-girdle muscular dystrophy type 2j 9.7 CAPN3 FKRP SGCB
15 autosomal recessive limb-girdle muscular dystrophy type 2l 9.7 DYSF FKRP SGCB
16 muscular dystrophy, limb-girdle, autosomal recessive 7 9.6 CAPN3 DYSF FKRP TRIM32
17 muscle tissue disease 9.3 CAPN3 DYSF FKRP SGCG
18 muscular dystrophy, limb-girdle, autosomal recessive 2 9.3 CAPN3 DYSF FKRP SGCB TRIM32
19 autosomal recessive limb-girdle muscular dystrophy type 2f 9.2 CAPN3 DYSF SGCB SGCG
20 autosomal recessive limb-girdle muscular dystrophy type 2g 9.2 CAPN3 DYSF SGCB SGCG
21 autosomal recessive limb-girdle muscular dystrophy type 2c 9.2 CAPN3 DYSF SGCB SGCG
22 autosomal recessive limb-girdle muscular dystrophy type 2b 9.2 CAPN3 DYSF SGCB SGCG
23 dilated cardiomyopathy 9.2 FKRP SGCB SGCG
24 autosomal recessive limb-girdle muscular dystrophy 9.2 CAPN3 DYSF FKRP SGCG TRIM32
25 autosomal recessive limb-girdle muscular dystrophy type 2d 9.0 CAPN3 DYSF FKRP SGCB SGCG
26 autosomal recessive limb-girdle muscular dystrophy type 2a 9.0 CAPN3 DYSF FKRP SGCB SGCG
27 muscular dystrophy, limb-girdle, autosomal recessive 6 8.8 CAPN3 DYSF FKRP SGCB SGCG TRIM32
28 muscular disease 8.8 CAPN3 DYSF FKRP SGCB SGCG TRIM32

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



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

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

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

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 myopathy 33 hallmark (90%) HP:0003198
2 emg abnormality 33 hallmark (90%) HP:0003457
3 waddling gait 33 hallmark (90%) HP:0002515
4 proximal muscle weakness in lower limbs 33 hallmark (90%) HP:0008994
5 mask-like facies 33 hallmark (90%) HP:0000298
6 increased variability in muscle fiber diameter 33 hallmark (90%) HP:0003557
7 elevated serum creatine kinase 33 hallmark (90%) HP:0003236
8 tall stature 33 frequent (33%) HP:0000098

UMLS symptoms related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h:


waddling gait, exercise-induced myalgia, quadriceps muscle weakness, facial paresis

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 BBOX1 CAPN3 FKRP SGCB SGCG
2 muscle MP:0005369 9.1 CAPN3 DYSF FKRP SGCB SGCG TRIM32

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

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

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

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

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

42
Skeletal Muscle

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

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

# Title Authors Year
1
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. ( 19303295 )
2009
2
Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin. ( 16243356 )
2005
3
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. ( 11822024 )
2002

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

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

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

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

Pathways related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.2 CAPN3 SGCB SGCG

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

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

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.32 CAPN3 DYSF
2 sarcoglycan complex GO:0016012 9.16 SGCB SGCG
3 dystrophin-associated glycoprotein complex GO:0016010 8.96 SGCB
4 dystroglycan complex GO:0016011 8.96 SGCB SGCG
5 sarcolemma GO:0042383 8.92 DYSF FKRP SGCB SGCG

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

# Name GO ID Score Top Affiliating Genes
1 fat cell differentiation GO:0045444 9.32 DYSF TRIM32
2 muscle cell cellular homeostasis GO:0046716 9.26 CAPN3 TRIM32
3 positive regulation of proteolysis GO:0045862 9.16 CAPN3 TRIM32
4 muscle fiber development GO:0048747 8.96 DYSF SGCB
5 muscle organ development GO:0007517 8.8 CAPN3 SGCB SGCG

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

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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