MCID: ATS280
MIFTS: 27

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 72
Muscular Dystrophy Hutterite Type 12
Sarcotubular Myopathy 12
Lgmd2h 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110282
ICD10 33 G71.0
UMLS 72 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 miyoshi 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). 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 26)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 8 31.3 TRIM32 TCAP FKRP CAPN3
2 miyoshi muscular dystrophy 30.1 MYOT CAPN3
3 myofibrillar myopathy 29.5 TCAP MYOT
4 muscular dystrophy-dystroglycanopathy , type c, 5 28.9 TRIM32 TCAP FKRP CAPN3
5 limb-girdle muscular dystrophy 27.6 TRIM32 TCAP SGCG MYOT FKRP CAPN3
6 muscular dystrophy 27.6 TRIM32 TCAP SGCG MYOT FKRP CAPN3
7 reducing body myopathy 11.4
8 myopathy 10.2
9 paresthesia 10.1 FKRP CAPN3
10 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 FKRP CAPN3
11 autosomal recessive limb-girdle muscular dystrophy type 2f 9.9 SGCG CAPN3
12 autosomal recessive limb-girdle muscular dystrophy type 2c 9.9 SGCG CAPN3
13 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 SGCG CAPN3
14 atrial standstill 1 9.8 MYOT FKRP
15 autosomal recessive limb-girdle muscular dystrophy type 2j 9.7 MYOT FKRP CAPN3
16 autosomal recessive limb-girdle muscular dystrophy type 2d 9.6 SGCG FKRP CAPN3
17 isolated hyperckemia 9.4 TCAP FKRP CAPN3
18 autosomal recessive limb-girdle muscular dystrophy type 2a 9.1 SGCG MYOT FKRP CAPN3
19 muscle tissue disease 9.1 SGCG MYOT FKRP CAPN3
20 muscular disease 8.8 TRIM32 SGCG MYOT FKRP CAPN3
21 autosomal recessive limb-girdle muscular dystrophy type 2g 8.8 TCAP SGCG MYOT CAPN3
22 dilated cardiomyopathy 8.7 TCAP SGCG FKRP
23 muscular dystrophy, limb-girdle, autosomal recessive 7 8.6 TRIM32 TCAP MYOT FKRP CAPN3
24 muscular dystrophy, limb-girdle, autosomal recessive 2 8.6 TRIM32 TCAP MYOT FKRP CAPN3
25 autosomal recessive limb-girdle muscular dystrophy 8.6 TRIM32 TCAP SGCG FKRP CAPN3
26 muscular dystrophy, limb-girdle, autosomal recessive 6 8.5 TRIM32 TCAP SGCG FKRP CAPN3

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 emg abnormality 32 hallmark (90%) HP:0003457
3 waddling gait 32 hallmark (90%) HP:0002515
4 proximal muscle weakness in lower limbs 32 hallmark (90%) HP:0008994
5 mask-like facies 32 hallmark (90%) HP:0000298
6 increased variability in muscle fiber diameter 32 hallmark (90%) HP:0003557
7 elevated serum creatine kinase 32 hallmark (90%) HP:0003236
8 tall stature 32 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:

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

(show all 13)
# Title Authors PMID Year
1
Novel TRIM32 mutation in sarcotubular myopathy. 38
31309175 2019
2
Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite. 38
23142638 2013
3
The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype. 38
21775502 2011
4
Limb-girdle muscular dystrophy 2H and the role of TRIM32. 38
21496629 2011
5
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. 38
19492423 2009
6
TRIM32 is an E3 ubiquitin ligase for dysbindin. 38
19349376 2009
7
Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component. 38
19155210 2009
8
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. 38
19303295 2009
9
Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin. 38
16243356 2005
10
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. 38
15786463 2005
11
[Sarcotubular myopathy]. 38
11555976 2001
12
Phenotypic variability in two brothers with sarcotubular myopathy. 38
10399877 1999
13
Sarcotubular myopathy. A newly recognized, benign, congenital, familial muscle disease. 38
4269389 1973

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

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 9.13 TCAP MYOT CAPN3
2 sarcolemma GO:0042383 8.8 SGCG MYOT FKRP

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 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.37 TRIM32 CAPN3
2 protein-containing complex assembly GO:0065003 9.32 TCAP CAPN3
3 muscle organ development GO:0007517 9.26 SGCG CAPN3
4 sarcomere organization GO:0045214 9.16 TCAP CAPN3
5 muscle cell cellular homeostasis GO:0046716 8.96 TRIM32 CAPN3
6 positive regulation of proteolysis GO:0045862 8.62 TRIM32 CAPN3

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 titin binding GO:0031432 8.96 TCAP CAPN3
2 structural constituent of muscle GO:0008307 8.8 TCAP MYOT CAPN3

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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