MCID: LMB017
MIFTS: 40

Limb-Girdle Muscular Dystrophy Type 2h malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Limb-Girdle Muscular Dystrophy Type 2h

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48OMIM, 34MalaCards
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MalaCards: Limb-Girdle Muscular Dystrophy Type 2h, also known as sarcotubular myopathy, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including autosomal recessive inheritance, abnormal gait and myopathy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 2h is TRIM32 (tripartite motif containing 32), and among its related pathways are p75 NTR receptor-mediated signalling and TRAF Pathway. Affiliated tissues include skeletal muscle, and related mouse phenotype growth/size/body.

Description from OMIM:48 254110

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

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44NIH Rare Diseases, 63UMLS, 46Novoseek, 50Orphanet, 21GeneTests, 23GTR, 48OMIM, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

50
sarcotubular myopathy:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy type 2h 44 63
sarcotubular myopathy 44 23 50
lgmd2h 44 46 50
muscular dystrophy limb-girdle type 2h 44 21
autosomal recessive limb-girdle muscular dystrophy type 2h 50
limb-girdle muscular dystrophy due to trim32 deficiency 50
muscular dystrophy, limb-girdle, type 2h 48
muscular dystrophy hutterite type 44


External Ids:

OMIM48 254110
ICD10 via Orphanet27 G71.0

Related Diseases for Limb-Girdle Muscular Dystrophy Type 2h

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Limb-Girdle Muscular Dystrophy Type 2h:



Diseases related to limb-girdle muscular dystrophy type 2h

Symptoms for Limb-Girdle Muscular Dystrophy Type 2h

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

254110

Clinical features from OMIM:

254110

Symptoms:

50 (show all 7)
  • autosomal recessive inheritance
  • abnormal gait
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • expressionless face/amimia
  • tall stature/gigantism/growth acceleration

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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Limb-Girdle Muscular Dystrophy Type 2h

Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy Type 2h

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy Type 2h

Search CenterWatch for Limb-Girdle Muscular Dystrophy Type 2h

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 2h

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21GeneTests, 23GTR
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Genetic tests related to Limb-Girdle Muscular Dystrophy Type 2h:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2h21 TRIM32
2 Sarcotubular Myopathy23

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 2h

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34MalaCards
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MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy Type 2h:

34
Skeletal muscle

Animal Models for Limb-Girdle Muscular Dystrophy Type 2h or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy Type 2h:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.7TRIM32, UBC, NFKB1, PAPPA, PARK2

Publications for Limb-Girdle Muscular Dystrophy Type 2h

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53PubMed
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Articles related to Limb-Girdle Muscular Dystrophy Type 2h:

idTitleAuthorsYear
1
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
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 Limb-Girdle Muscular Dystrophy Type 2h

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Limb-Girdle Muscular Dystrophy Type 2h:

65
id Symbol AA change Variation ID SNP ID
1TRIM32p.Asp487AsnVAR_018725
2TRIM32p.Arg394HisVAR_042939

Clinvar genetic disease variations for Limb-Girdle Muscular Dystrophy Type 2h:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_012210.3(TRIM32): c.1459G> A (p.Asp487Asn)single nucleotide variantPathogenicrs111033570GRCh37Chr 9, 119461480: 119461480
2TRIM32TRIM32, 1-BP DEL, 1559CdeletionPathogenic
3NM_012210.3(TRIM32): c.1181G> A (p.Arg394His)single nucleotide variantPathogenicrs121434447GRCh37Chr 9, 119461202: 119461202

Expression for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2h

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2h

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

Pathways for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2h

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Sources:
51PathCards, 56Reactome, 54QIAGEN, 31KEGG, 13EMD Millipore, 5Cell Signaling Technology, 39NCBI BioSystems Database, 61Thomson Reuters
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Pathways related to Limb-Girdle Muscular Dystrophy Type 2h according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5UBC, NFKB1
2
Show member pathways
9.5UBC, NFKB1
3
Show member pathways
9.5UBC, NFKB1
4
Show member pathways
9.5UBC, NFKB1
5
Show member pathways
9.5UBC, NFKB1
6
Show member pathways
9.5UBC, NFKB1
7
Show member pathways
9.4UBC, PARK2
89.4PIAS4, NFKB1
99.3PIAS4, PARK2
10
Show member pathways
9.1NFKB1, UBC, TRIM32
11
Show member pathways
Proteasome Degradation39
Immune response Antigen presentation by MHC class I61
9.0UBC, NFKB1, PARK2
12
Show member pathways
7.9TRIM32, UBC, NFKB1, PARK2, PIAS4

Compounds for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2h

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GO Terms for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2h

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17Gene Ontology
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Cellular components related to Limb-Girdle Muscular Dystrophy Type 2h according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.6TRIM32, UBC, NFKB1, PARK2

Biological processes related to Limb-Girdle Muscular Dystrophy Type 2h according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1regulation of type I interferon productionGO:0324799.9UBC, TRIM32
2protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:0427879.9TRIM32, PARK2
3toll-like receptor 10 signaling pathwayGO:0341669.8NFKB1, UBC
4toll-like receptor 5 signaling pathwayGO:0341469.8NFKB1, UBC
5toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.8UBC, NFKB1
6toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.8UBC, NFKB1
7toll-like receptor 9 signaling pathwayGO:0341629.7UBC, NFKB1
8toll-like receptor 2 signaling pathwayGO:0341349.7UBC, NFKB1
9TRIF-dependent toll-like receptor signaling pathwayGO:0356669.7NFKB1, UBC
10MyD88-dependent toll-like receptor signaling pathwayGO:0027559.7UBC, NFKB1
11MyD88-independent toll-like receptor signaling pathwayGO:0027569.6UBC, NFKB1
12toll-like receptor 3 signaling pathwayGO:0341389.6NFKB1, UBC
13T cell receptor signaling pathwayGO:0508529.5UBC, NFKB1
14Fc-epsilon receptor signaling pathwayGO:0380959.5UBC, NFKB1
15positive regulation of type I interferon productionGO:0324819.4TRIM32, UBC, NFKB1
16positive regulation of NF-kappaB transcription factor activityGO:0510929.4NFKB1, UBC, TRIM32
17toll-like receptor 4 signaling pathwayGO:0341429.4NFKB1, UBC
18protein polyubiquitinationGO:0002099.4TRIM32, UBC, PARK2
19positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.4TRIM32, UBC, PARK2
20toll-like receptor signaling pathwayGO:0022249.2UBC, NFKB1
21innate immune responseGO:0450879.2TRIM32, UBC, NFKB1
22negative regulation of transcription from RNA polymerase II promoterGO:0001229.1PIAS4, NFKB1, UBC

Molecular functions related to Limb-Girdle Muscular Dystrophy Type 2h according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin protein ligase bindingGO:0316259.0PIAS4, PARK2
2zinc ion bindingGO:0082708.0TRIM32, PAPPA, PARK2, PIAS4
3protein bindingGO:0055157.9TRIM32, UBC, NFKB1, PARK2, PIAS4

Products for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2h

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Sources for Limb-Girdle Muscular Dystrophy Type 2h

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet