MCID: LMB017
MIFTS: 41

Limb-Girdle Muscular Dystrophy Type 2h malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Limb-Girdle Muscular Dystrophy Type 2h

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MalaCards based summary: 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 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 p75 NTR receptor-mediated signalling and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. Affiliated tissues include skeletal muscle, and related mouse phenotype growth/size/body.

Description from OMIM:46 254110

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

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Limb-Girdle Muscular Dystrophy Type 2h, Aliases & Descriptions:

Name: Limb-Girdle Muscular Dystrophy Type 2h 42 62
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


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 254110
ICD10 via Orphanet26 G71.0

Related Diseases for Limb-Girdle Muscular Dystrophy Type 2h

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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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Symptoms by clinical synopsis from OMIM:

254110

Clinical features 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

HPO human phenotypes related to Limb-Girdle Muscular Dystrophy Type 2h:

(show all 26)
id Description Frequency HPO Source Accession
1 mask-like facies hallmark (90%) HP:0000298
2 gait disturbance hallmark (90%) HP:0001288
3 myopathy hallmark (90%) HP:0003198
4 emg abnormality hallmark (90%) HP:0003457
5 tall stature typical (50%) HP:0000098
6 autosomal recessive inheritance HP:0000007
7 hyporeflexia HP:0001265
8 areflexia HP:0001284
9 waddling gait HP:0002515
10 elevated serum creatine phosphokinase HP:0003236
11 gowers sign HP:0003391
12 emg HP:0003458
13 shoulder girdle muscle weakness HP:0003547
14 increased variability in muscle fiber diameter HP:0003557
15 muscular dystrophy HP:0003560
16 slow progression HP:0003677
17 centrally nucleated skeletal muscle fibers HP:0003687
18 calf muscle pseudohypertrophy HP:0003707
19 neck flexor weakness HP:0003722
20 shoulder girdle muscle atrophy HP:0003724
21 quadriceps muscle weakness HP:0003731
22 exercise-induced myalgia HP:0003738
23 pelvic girdle muscle weakness HP:0003749
24 phenotypic variability HP:0003812
25 pelvic girdle muscle atrophy HP:0008988
26 facial palsy HP:0010628

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

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Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy Type 2h

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

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 2h

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

32
Skeletal muscle

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.8TRIM32, UBC, NFKB1, PAPPA, PARK2

Publications for Limb-Girdle Muscular Dystrophy Type 2h

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

idTitleAuthorsYear
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 Limb-Girdle Muscular Dystrophy Type 2h

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

64
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:

6
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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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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Pathways related to Limb-Girdle Muscular Dystrophy Type 2h according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5UBC, NFKB1
2
Show member pathways
9.5NFKB1, UBC
3
Show member pathways
9.5UBC, NFKB1
4
Show member pathways
9.5NFKB1, UBC
5
Show member pathways
9.4UBC, PARK2
69.4NFKB1, PIAS4
79.3PARK2, PIAS4
8
Show member pathways
9.1NFKB1, UBC, TRIM32
9
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
9.0UBC, NFKB1, PARK2
10
Show member pathways
8.0TRIM32, 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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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:0427879.9PARK2, TRIM32
3toll-like receptor 5 signaling pathwayGO:0341469.8UBC, NFKB1
4toll-like receptor 10 signaling pathwayGO:0341669.8NFKB1, UBC
5toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.8NFKB1, UBC
6toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.8NFKB1, UBC
7toll-like receptor 9 signaling pathwayGO:0341629.8UBC, NFKB1
8toll-like receptor 2 signaling pathwayGO:0341349.7UBC, NFKB1
9TRIF-dependent toll-like receptor signaling pathwayGO:0356669.7UBC, NFKB1
10MyD88-independent toll-like receptor signaling pathwayGO:0027569.7NFKB1, UBC
11MyD88-dependent toll-like receptor signaling pathwayGO:0027559.7NFKB1, UBC
12toll-like receptor 3 signaling pathwayGO:0341389.6UBC, NFKB1
13T cell receptor signaling pathwayGO:0508529.6NFKB1, UBC
14toll-like receptor 4 signaling pathwayGO:0341429.5UBC, NFKB1
15Fc-epsilon receptor signaling pathwayGO:0380959.5UBC, NFKB1
16positive regulation of type I interferon productionGO:0324819.5TRIM32, UBC, NFKB1
17positive regulation of NF-kappaB transcription factor activityGO:0510929.5NFKB1, UBC, TRIM32
18protein polyubiquitinationGO:0002099.4TRIM32, UBC, PARK2
19positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.4PARK2, TRIM32, UBC
20toll-like receptor signaling pathwayGO:0022249.2NFKB1, UBC
21negative regulation of transcription from RNA polymerase II promoterGO:0001229.0NFKB1, UBC, PIAS4
22innate immune responseGO:0450879.0UBC, NFKB1, TRIM32

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin protein ligase bindingGO:0316259.3PARK2, PIAS4
2zinc ion bindingGO:0082707.8TRIM32, PAPPA, PARK2, PIAS4

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

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet