MCID: LMB017
MIFTS: 40

Limb-Girdle Muscular Dystrophy Type 2h malady

Neuronal diseases, Muscle diseases categories

Summaries for Limb-Girdle Muscular Dystrophy Type 2h

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46OMIM, 32MalaCards
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MalaCards: Limb-Girdle Muscular Dystrophy Type 2h, also known as sarcotubular myopathy, is related to muscular dystrophy and limb-girdle muscular dystrophy, and has symptoms including expressionless face/amimia, 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:46 254110

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

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Sources:
42NIH Rare Diseases, 60UMLS, 44Novoseek, 48Orphanet, 20GeneTests, 22GTR, 46OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
sarcotubular myopathy:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy type 2h 42 60
sarcotubular myopathy 42 22 48
lgmd2h 42 44 48
muscular dystrophy limb-girdle type 2h 42 20
autosomal recessive limb-girdle muscular dystrophy type 2h 48
limb-girdle muscular dystrophy due to trim32 deficiency 48
muscular dystrophy, limb-girdle, type 2h 46
muscular dystrophy hutterite type 42


External Ids:

OMIM46 254110
ICD10 via Orphanet26 G71.0

Related Diseases for Limb-Girdle Muscular Dystrophy Type 2h

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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

254110

Clinical synopsis from OMIM:

254110

Symptoms:

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

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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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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

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

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Publications for Limb-Girdle Muscular Dystrophy Type 2h

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Genetic Variations for Limb-Girdle Muscular Dystrophy Type 2h

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Limb-Girdle Muscular Dystrophy Type 2h:

62
id Symbol AA change Variation ID SNP ID
1TRIM32p.Asp487AsnVAR_018725
2TRIM32p.Arg394HisVAR_042939

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

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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

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Sources:
53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG, 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
19.6TRIM32, UBC
2
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9.6NFKB1, UBC
3
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9.6NFKB1, UBC
49.6NFKB1, UBC
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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9.3UBE2D3, UBC
15
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9.2TRIM32, NFKB1, UBC
16
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9.1UBE2E1, UBC, NFKB1
179.0UBE2E1, UBC, PARK2
189.0UBE2D3, PIAS4, PARK2
19
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9.0NFKB1, UBC, UBE2D3
208.9PARK2, UBE2E1, UBE2D3
21
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8.8UBC, UBE2E1, UBE2D3
228.8UBC, UBE2E1, UBE2D3
238.8UBE2D3, UBE2E1, UBC
24
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8.0UBE2D3, UBE2E1, UBC, NFKB1, PARK2
25
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7.6PARK2, TRIM32, PIAS4, UBC, UBE2E1, UBE2D3
26
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7.5TRIM32, NFKB1, UBC, UBE2E1, UBE2D3, UBE2D3

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

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Sources:
11DrugBank, 24HMDB, 44Novoseek
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Compounds related to Limb-Girdle Muscular Dystrophy Type 2h according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Adenosine monophosphate11 249.6PARK2, TRIM32, UBE2E1, UBE2D3
2Adenosine triphosphate11 249.6PARK2, TRIM32, UBE2E1, UBE2D3
3phosphoric acid44 249.5UBE2D3, UBE2E1, TRIM32, PARK2
4pyrophosphate44 249.3UBE2D3, UBE2E1, TRIM32, PARK2

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

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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:0324799.9TRIM32, UBC
2protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:0427879.9PARK2, TRIM32
3protein monoubiquitinationGO:0065139.7PARK2, UBE2D3
4toll-like receptor 10 signaling pathwayGO:0341669.6UBC, NFKB1
5positive regulation of type I interferon productionGO:0324819.6TRIM32, NFKB1, UBC
6toll-like receptor 5 signaling pathwayGO:0341469.6UBC, NFKB1
7regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614189.6UBC, UBE2D3
8positive regulation of NF-kappaB transcription factor activityGO:0510929.5UBC, NFKB1, TRIM32
9negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514369.5UBE2E1, UBC
10negative regulation of type I interferon productionGO:0324809.5UBC, UBE2D3
11toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.5NFKB1, UBC
12positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514379.4UBC, UBE2E1
13TRIF-dependent toll-like receptor signaling pathwayGO:0356669.3NFKB1, UBC, UBE2D3
14MyD88-independent toll-like receptor signaling pathwayGO:0027569.3UBE2D3, UBC, NFKB1
15toll-like receptor 3 signaling pathwayGO:0341389.3NFKB1, UBC, UBE2D3
16toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.3NFKB1, UBC
17protein K48-linked ubiquitinationGO:0709369.3UBE2D3, UBE2E1, PARK2
18toll-like receptor 4 signaling pathwayGO:0341429.3UBE2D3, UBC, NFKB1
19toll-like receptor signaling pathwayGO:0022249.3UBE2D3, UBC, NFKB1
20ubiquitin-dependent protein catabolic processGO:0065119.2PARK2, UBE2E1, UBE2D3
21protein ubiquitinationGO:0165679.2UBE2D3, UBE2E1, TRIM32
22innate immune responseGO:0450878.9UBE2D3, UBC, NFKB1, TRIM32
23negative regulation of transcription from RNA polymerase II promoterGO:0001228.8UBE2D3, UBC, PIAS4, NFKB1
24protein polyubiquitinationGO:0002098.4PARK2, TRIM32, UBC, UBE2E1, UBE2D3

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

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Sources for Limb-Girdle Muscular Dystrophy Type 2h

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet