MCID: MSC119
MIFTS: 41

Muscular Dystrophy, Limb-Girdle, Type 2h malady

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2h 49 11
Lgmd2h 45 22 47 67
Sarcotubular Myopathy 45 24 67
Limb-Girdle Muscular Dystrophy Type 2h 45 65
 
Muscular Dystrophy Limb-Girdle Type 2h 45 22
Muscular Dystrophy Hutterite Type 45 67
Limb-Girdle Muscular Dystrophy 2h 67
Lgmd 2h 22


Classifications:



External Ids:

OMIM49 254110
MedGen34 C0270968
MeSH36 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2h

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UniProtKB/Swiss-Prot:67 Limb-girdle muscular dystrophy 2H: An autosomal recessive degenerative myopathy characterized by pelvic girdle, shoulder girdle and quadriceps muscle weakness. Clinical phenotype and severity are highly variable. Disease progression is slow and most patients remain ambulatory into the sixth decade of life.

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2h, also known as lgmd2h, is related to muscular dystrophy and limb-girdle muscular dystrophy, and has symptoms including mask-like facies, gait disturbance and myopathy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2h is TRIM32 (Tripartite Motif Containing 32), and among its related pathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related mouse phenotypes are behavior/neurological and muscle.

Description from OMIM:49 254110

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 2h

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Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type Ic Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2e Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 1e
Muscular Dystrophy, Limb-Girdle, Type 2q muscular dystrophy, limb-girdle, type 2h
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 2c
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 2d Limb-Girdle Muscular Dystrophy Type 1d
Limb-Girdle Muscular Dystrophies, Autosomal Dominant Limb-Girdle Muscular Dystrophies, Autosomal Recessive
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2h via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy30.4CAPN3, DYSF, FKRP, TCAP, TTN
2limb-girdle muscular dystrophy10.8
3autosomal recessive limb-girdle muscular dystrophy type 2h10.8
4muscular dystrophy, limb-girdle, type 2a10.1
5myopathy10.1
6isolated pierre robin sequence10.1CAPN3, FKRP
7muscular dystrophy, limb-girdle, type ic10.0DYSF, FKRP
8septate vagina10.0TCAP, TTN
9miyoshi muscular dystrophy 110.0CAPN3, DYSF
10dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease10.0CAPN3, DYSF
11muscular dystrophy, congenital10.0CAPN3, FKRP
12rippling muscle disease9.9DYSF, TTN
13immunodeficiency 34, mycobacteriosis, x-linked9.9DYSF, FKRP
14invasive bladder transitional cell carcinoma9.9TCAP, TTN
15drug-induced hepatitis9.8FKRP, TCAP, TTN
16acute pericementitis9.8CAPN3, DYSF, TTN
17myotonic disease9.8CAPN3, DYSF, TTN
18cardiomyopathy with or without skeletal myopathy9.8FKRP, TCAP, TTN
19cornelia de lange syndrome9.5CAPN3, DYSF, TCAP, TRIM32, TTN
20lmna-related muscle diseases9.5CAPN3, DYSF, FKRP, TCAP, TTN
21myopathy of extraocular muscle9.4CAPN3, DYSF, FKRP, TCAP, TTN
22muscular dystrophy, limb-girdle, type 2b9.3CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
23muscular dystrophy, limb-girdle, type 2e9.3CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
24muscular dystrophy, limb-girdle, type 1a9.3CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
25muscular dystrophy, limb-girdle, type 2f9.3CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
26cardiomyopathy, hypertrophic, 259.3CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
27glycogen storage disease 0, muscle9.3CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
28cartilage disease9.3CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
29myeloid leukemia9.3CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
30muscular dystrophy, limb-girdle, type 2h9.0CAPN3, DYSF, FKRP, PARK2, TCAP, TRIM32

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 2h:



Diseases related to muscular dystrophy, limb-girdle, type 2h

Symptoms for Muscular Dystrophy, Limb-Girdle, Type 2h

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Symptoms by clinical synopsis from OMIM:

254110

Clinical features from OMIM:

254110

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

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

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2h

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Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 2h:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2h22 TRIM32
2 Sarcotubular Myopathy24

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2h

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

33
Skeletal muscle

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.0DYSF, FKRP, PARK2, TCAP, TRIM32, TTN
2MP:00053696.9CAPN3, DYSF, FKRP, PARK2, TCAP, TRIM32
3MP:00053766.7CAPN3, DYSF, FKRP, PARK2, TCAP, TRIM32

Publications for Muscular Dystrophy, Limb-Girdle, Type 2h

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Variations for Muscular Dystrophy, Limb-Girdle, Type 2h

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

67
id Symbol AA change Variation ID SNP ID
1TRIM32p.Asp487AsnVAR_018725
2TRIM32p.Arg394HisVAR_042939

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

5
id Gene Variation 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 Muscular Dystrophy, Limb-Girdle, Type 2h

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

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

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Pathways related to Muscular Dystrophy, Limb-Girdle, Type 2h according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.9DYSF, TCAP, TTN

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

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Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 2h according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:00303159.6CAPN3, DYSF
2I bandGO:00316749.4TCAP, TTN
3sarcolemmaGO:00423839.4DYSF, FKRP
4Z discGO:00300188.7CAPN3, TCAP, TTN

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 2h according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle hypertrophyGO:000330010.0TCAP, TTN
2skeletal muscle thin filament assemblyGO:003024010.0TCAP, TTN
3skeletal muscle myosin thick filament assemblyGO:003024110.0TCAP, TTN
4detection of muscle stretchGO:003599510.0TCAP, TTN
5cardiac muscle fiber developmentGO:004873910.0TCAP, TTN
6sarcomerogenesisGO:004876910.0TCAP, TTN
7cardiac myofibril assemblyGO:00550039.9TCAP, TTN
8cardiac muscle tissue morphogenesisGO:00550089.9TCAP, TTN
9positive regulation of proteolysisGO:00458629.8CAPN3, TRIM32
10adult heart developmentGO:00075129.7TCAP, TTN
11response to calcium ionGO:00515929.7CAPN3, TTN
12cardiac muscle contractionGO:00600489.5TCAP, TTN
13positive regulation of tumor necrosis factor-mediated signaling pathwayGO:19032659.4PARK2, TRIM32
14regulation of catalytic activityGO:00507909.3CAPN3, TTN
15protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:00427879.3PARK2, TRIM32
16sarcomere organizationGO:00452149.3CAPN3, TCAP, TTN
17muscle filament slidingGO:00300499.2TCAP, TTN

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Type 2h according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:00314329.7CAPN3, TCAP
2protein self-associationGO:00436219.6TRIM32, TTN
3structural constituent of muscleGO:00083079.0CAPN3, TCAP, TTN
4ubiquitin bindingGO:00431309.0PARK2, TRIM32

Sources for Muscular Dystrophy, Limb-Girdle, Type 2h

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet