MCID: ATS280
MIFTS: 33

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

Categories: Muscle diseases, Genetic diseases, Rare diseases, Neuronal diseases, Metabolic 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, type 2h and isolated hyperckemia, and has symptoms including waddling gait, facial paresis 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 tall stature and mask-like facies

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

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
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 28)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2h 30.6 CAPN3 DYSF FKRP TRIM32
2 isolated hyperckemia 10.2 CAPN3 FKRP
3 polyglucosan body myopathy 1 with or without immunodeficiency 10.2 CAPN3 FKRP
4 muscular dystrophy, limb-girdle, type 1e 9.9 FKRP MYOT
5 autosomal recessive limb-girdle muscular dystrophy type 2e 9.9 CAPN3 SGCG
6 muscular dystrophy, limb-girdle, type 1c 9.7 DYSF FKRP
7 muscular dystrophy, limb-girdle, type 2j 9.6 CAPN3 FKRP MYOT
8 muscular dystrophy, limb-girdle, type 2l 9.6 DYSF FKRP
9 dysferlinopathy 9.6 CAPN3 DYSF
10 bethlem myopathy 1 9.5 CAPN3 DYSF
11 atrial standstill 1 9.4 FKRP MYOT
12 myositis 9.4 CAPN3 DYSF
13 muscular dystrophy, limb-girdle, type 1a 9.3 CAPN3 FKRP MYOT TRIM32
14 autosomal dominant limb-girdle muscular dystrophy type 1c 9.2 DYSF FKRP MYOT
15 distal muscular dystrophy 9.2 CAPN3 DYSF MYOT
16 autosomal recessive limb-girdle muscular dystrophy type 2f 9.1 CAPN3 DYSF SGCG
17 autosomal recessive limb-girdle muscular dystrophy type 2b 9.1 CAPN3 DYSF SGCG
18 muscular dystrophy, limb-girdle, type 2c 9.1 CAPN3 DYSF SGCG
19 muscular dystrophy-dystroglycanopathy , type c, 5 8.9 CAPN3 DYSF FKRP TRIM32
20 muscular dystrophy, limb-girdle, type 2d 8.6 CAPN3 DYSF FKRP SGCG
21 muscular dystrophy, limb-girdle, type 2g 8.3 CAPN3 DYSF FKRP MYOT TRIM32
22 muscular dystrophy, limb-girdle, type 2b 8.3 CAPN3 DYSF FKRP MYOT TRIM32
23 muscular dystrophy, limb-girdle, type 2f 8.2 CAPN3 DYSF FKRP SGCG TRIM32
24 autosomal recessive limb-girdle muscular dystrophy 8.2 CAPN3 DYSF FKRP SGCG TRIM32
25 muscle tissue disease 8.0 CAPN3 DYSF FKRP MYOT SGCG
26 limb-girdle muscular dystrophy 7.6 CAPN3 DYSF FKRP MYOT SGCG TRIM32
27 muscular dystrophy 7.5 CAPN3 DYSF FKRP MYOT SGCG TRIM32
28 myopathy 7.5 CAPN3 DYSF FKRP MYOT 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 tall stature 32 frequent (33%) HP:0000098
2 mask-like facies 32 hallmark (90%) HP:0000298
3 waddling gait 32 hallmark (90%) HP:0002515
4 myopathy 32 hallmark (90%) HP:0003198
5 elevated serum creatine phosphokinase 32 hallmark (90%) HP:0003236
6 emg abnormality 32 hallmark (90%) HP:0003457
7 increased variability in muscle fiber diameter 32 hallmark (90%) HP:0003557
8 proximal muscle weakness in lower limbs 32 hallmark (90%) HP:0008994

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


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 FKRP SGCG TRIM32 CAPN3 DYSF

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
The interaction of Piasy with Trim32, an E3-ubiquitin ligase mutated in limb-girdle muscular dystrophy type 2H, promotes Piasy degradation and regulates UVB-induced keratinocyte apoptosis through NFkappaB. ( 16816390 )
2006
3
Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin. ( 16243356 )
2005
4
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

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 9.16 CAPN3 MYOT
2 T-tubule GO:0030315 8.96 CAPN3 DYSF
3 sarcolemma GO:0042383 8.92 DYSF FKRP MYOT 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 contraction GO:0006936 9.26 DYSF MYOT
2 muscle organ development GO:0007517 9.16 CAPN3 SGCG
3 muscle cell cellular homeostasis GO:0046716 8.96 CAPN3 TRIM32
4 positive regulation of proteolysis GO:0045862 8.62 CAPN3 TRIM32

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
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