MCID: ATS280
MIFTS: 35

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 73
Muscular Dystrophy Hutterite Type 12
Sarcotubular Myopathy 12
Lgmd2h 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110282
ICD10 33 G71.0
UMLS 73 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 limb-girdle muscular dystrophy, 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 elevated serum creatine phosphokinase

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 8 32.3 CAPN3 FKRP TRIM32
2 limb-girdle muscular dystrophy 28.9 CAPN3 FKRP MYOT SGCB SGCG TRIM32
3 muscular dystrophy 28.9 CAPN3 FKRP MYOT SGCB SGCG TRIM32
4 reducing body myopathy 11.3
5 paresthesia 10.1 CAPN3 FKRP
6 myopathy 10.1
7 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 CAPN3 FKRP
8 isolated hyperckemia 10.0 CAPN3 FKRP
9 autosomal recessive limb-girdle muscular dystrophy type 2l 9.9 FKRP SGCB
10 miyoshi muscular dystrophy 9.9 CAPN3 MYOT
11 autosomal dominant limb-girdle muscular dystrophy type 1f 9.9 MYOT SGCB
12 muscular dystrophy-dystroglycanopathy , type c, 5 9.9 CAPN3 FKRP TRIM32
13 atrial standstill 1 9.9 FKRP MYOT
14 muscular dystrophy, limb-girdle, autosomal dominant 1 9.9 MYOT SGCB
15 muscular dystrophy, limb-girdle, autosomal recessive 7 9.8 CAPN3 FKRP MYOT TRIM32
16 autosomal dominant limb-girdle muscular dystrophy type 1a 9.8 CAPN3 FKRP MYOT TRIM32
17 autosomal recessive limb-girdle muscular dystrophy type 2f 9.7 CAPN3 SGCB SGCG
18 autosomal recessive limb-girdle muscular dystrophy type 2c 9.7 CAPN3 SGCB SGCG
19 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 CAPN3 SGCB SGCG
20 autosomal recessive limb-girdle muscular dystrophy type 2j 9.7 CAPN3 FKRP MYOT SGCB
21 autosomal recessive limb-girdle muscular dystrophy 9.7 CAPN3 FKRP SGCG TRIM32
22 muscle tissue disease 9.6 CAPN3 FKRP MYOT SGCG
23 autosomal recessive limb-girdle muscular dystrophy type 2d 9.6 CAPN3 FKRP SGCB SGCG
24 muscular dystrophy, limb-girdle, autosomal recessive 2 9.5 CAPN3 FKRP MYOT SGCB TRIM32
25 autosomal recessive limb-girdle muscular dystrophy type 2g 9.5 CAPN3 MYOT SGCB SGCG
26 dilated cardiomyopathy 9.5 FKRP SGCB SGCG
27 muscular dystrophy, limb-girdle, autosomal recessive 6 9.4 CAPN3 FKRP SGCB SGCG TRIM32
28 autosomal recessive limb-girdle muscular dystrophy type 2a 9.4 CAPN3 FKRP MYOT SGCB SGCG
29 muscular disease 9.2 CAPN3 FKRP MYOT 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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 myopathy 32 hallmark (90%) HP:0003198
2 elevated serum creatine phosphokinase 32 hallmark (90%) HP:0003236
3 emg abnormality 32 hallmark (90%) HP:0003457
4 waddling gait 32 hallmark (90%) HP:0002515
5 proximal muscle weakness in lower limbs 32 hallmark (90%) HP:0008994
6 mask-like facies 32 hallmark (90%) HP:0000298
7 tall stature 32 frequent (33%) HP:0000098
8 increased variability in muscle fiber diameter 32 hallmark (90%) HP:0003557

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 BBOX1 CAPN3 FKRP SGCB SGCG
2 muscle MP:0005369 9.02 CAPN3 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:

41
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 Z disc GO:0030018 9.32 CAPN3 MYOT
2 dystrophin-associated glycoprotein complex GO:0016010 9.26 FKRP SGCB
3 sarcoglycan complex GO:0016012 9.16 SGCB SGCG
4 dystroglycan complex GO:0016011 8.96 SGCB SGCG
5 sarcolemma GO:0042383 8.92 FKRP MYOT 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 muscle cell cellular homeostasis GO:0046716 9.16 CAPN3 TRIM32
2 positive regulation of proteolysis GO:0045862 8.96 CAPN3 TRIM32
3 muscle organ development GO:0007517 8.8 CAPN3 SGCB SGCG

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.62 CAPN3 MYOT

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

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
Content
Loading form....