MCID: LMB017
MIFTS: 32

Limb-Girdle Muscular Dystrophy Type 2h malady

Neuronal, Muscle categories

Summaries for Limb-Girdle Muscular Dystrophy Type 2h

Sources:
47OMIM, 33MalaCards
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MalaCards: Limb-Girdle Muscular Dystrophy Type 2h, also known as sarcotubular myopathy, is related to limb-girdle muscular dystrophy and calpainopathy, 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 Regulation of innate immune responses to cytosolic DNA and DNA damage Role of SUMO in p53 regulation. The compounds Adenosine monophosphate and Adenosine triphosphate have been mentioned in the context of this disorder.

Description from OMIM:47 254110

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

Sources:
43NIH Rare Diseases, 61UMLS, 45Novoseek, 49Orphanet, 20GeneTests, 22GTR, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Muscle


Characteristics (Orphanet epidemiological data):

49
sarcotubular myopathy:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy type 2h 43 61
sarcotubular myopathy 43 22 49
lgmd2h 43 45 49
muscular dystrophy limb-girdle type 2h 43 20
autosomal recessive limb-girdle muscular dystrophy type 2h 49
limb-girdle muscular dystrophy due to trim32 deficiency 49
muscular dystrophy, limb-girdle, type 2h 47
muscular dystrophy hutterite type 43


External Ids:

OMIM47 254110
ICD10 via Orphanet26 G71.0

Related Diseases for Limb-Girdle Muscular Dystrophy Type 2h

Sources:
17GeneCards, 18GeneDecks
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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

Clinical Features for Limb-Girdle Muscular Dystrophy Type 2h

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

254110

Clinical synopsis from OMIM:

254110

Symptoms:

49 (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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
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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 2h20 TRIM32
2 Sarcotubular Myopathy22

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 2h

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

Sources:
28inGenious Targeting Laboratory
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Publications for Limb-Girdle Muscular Dystrophy Type 2h

Genetic Variations for Limb-Girdle Muscular Dystrophy Type 2h

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Limb-Girdle Muscular Dystrophy Type 2h:

63
id Symbol AA change Variation SNP ID
1TRIM32p.Asp487AsnVAR_018725
2TRIM32p.Arg394HisVAR_042939

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

Sources:
1BioGPS, 15Gene 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

Sources:
54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN, 30KEGG, 4Cell Signaling Technology
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Pathways related to Limb-Girdle Muscular Dystrophy Type 2h according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6UBC, TRIM32
2
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9.6UBC, NFKB1
39.6UBC, NFKB1
4
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9.6UBC, NFKB1
59.6NFKB1, UBC
6
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9.6NFKB1, UBC
7
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9.6NFKB1, UBC
8
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9.6NFKB1, UBC
99.5UBE2D3, NFKB1
10
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9.3UBC, UBE2D3
11
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9.3UBC, UBE2D3
12
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9.3UBC, UBE2D3
13
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9.3UBC, UBE2D3
14
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9.3UBC, UBE2D3
15
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9.2NFKB1, TRIM32, UBC
16
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9.1UBE2E1, UBC, NFKB1
179.0UBC, UBE2E1, PARK2
189.0UBE2D3, PARK2, PIAS4
19
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9.0UBE2D3, NFKB1, UBC
208.9PARK2, UBE2D3, UBE2E1
218.8UBC, UBE2D3, UBE2E1
228.8UBE2D3, UBE2E1, UBC
23
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8.8UBC, UBE2E1, UBE2D3
24
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8.0UBE2D3, UBC, NFKB1, PARK2, UBE2E1
25
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7.6PIAS4, TRIM32, PARK2, UBE2E1, UBC, UBE2D3
26
Hide members
7.5TRIM32, NFKB1, UBC, UBE2D3, UBE2E1, UBE2D3

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

Sources:
11DrugBank, 24HMDB, 45Novoseek
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Compounds related to Limb-Girdle Muscular Dystrophy Type 2h according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Adenosine monophosphate11 249.6UBE2D3, UBE2E1, TRIM32, PARK2
2Adenosine triphosphate11 249.6TRIM32, UBE2E1, UBE2D3, PARK2
3phosphoric acid45 249.5PARK2, TRIM32, UBE2E1, UBE2D3
4pyrophosphate45 249.3PARK2, UBE2D3, UBE2E1, TRIM32

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

Sources:
16Gene Ontology
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Cellular components related to Limb-Girdle Muscular Dystrophy Type 2h according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056548.4NFKB1, UBC, UBE2E1, UBE2D3
2cytosolGO:0058297.4PARK2, UBE2D3, UBE2E1, UBC, NFKB1, TRIM32

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1regulation of type I interferon productionGO:0324799.9UBC, TRIM32
2protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:0427879.9PARK2, TRIM32
3protein monoubiquitinationGO:0065139.7UBE2D3, PARK2
4toll-like receptor 10 signaling pathwayGO:0341669.7UBC, NFKB1
5toll-like receptor 5 signaling pathwayGO:0341469.6NFKB1, UBC
6positive regulation of type I interferon productionGO:0324819.6NFKB1, UBC, TRIM32
7toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.6NFKB1, UBC
8regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614189.6UBC, UBE2D3
9positive regulation of NF-kappaB transcription factor activityGO:0510929.5UBC, NFKB1, TRIM32
10negative regulation of type I interferon productionGO:0324809.5UBE2D3, UBC
11toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.5NFKB1, UBC
12negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514369.4UBC, UBE2E1
13TRIF-dependent toll-like receptor signaling pathwayGO:0356669.3NFKB1, UBE2D3, UBC
14MyD88-independent toll-like receptor signaling pathwayGO:0027569.3UBE2D3, UBC, NFKB1
15toll-like receptor 3 signaling pathwayGO:0341389.3NFKB1, UBC, UBE2D3
16protein K48-linked ubiquitinationGO:0709369.3UBE2D3, PARK2, UBE2E1
17toll-like receptor 4 signaling pathwayGO:0341429.3NFKB1, UBC, UBE2D3
18toll-like receptor signaling pathwayGO:0022249.3NFKB1, UBC, UBE2D3
19ubiquitin-dependent protein catabolic processGO:0065119.2UBE2D3, UBE2E1, PARK2
20protein ubiquitinationGO:0165679.2UBE2D3, UBE2E1, TRIM32
21positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514379.1UBC, UBE2E1
22innate immune responseGO:0450878.9UBE2D3, UBC, NFKB1, TRIM32
23negative regulation of transcription from RNA polymerase II promoterGO:0001228.8NFKB1, PIAS4, UBC, UBE2D3
24protein polyubiquitinationGO:0002098.4UBE2D3, UBE2E1, UBC, PARK2, TRIM32

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-protein ligase activityGO:0048428.5PARK2, TRIM32, UBE2E1, UBE2D3
2zinc ion bindingGO:0082708.4PARK2, PAPPA, TRIM32, PIAS4
3protein bindingGO:0055156.9UBE2D3, UBE2E1, UBC, PIAS4, NFKB1, TRIM32

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limb-Girdle Muscular Dystrophy Type 2h

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet