MCID: MSC119
MIFTS: 40

Muscular Dystrophy, Limb-Girdle, Type 2h malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

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 51 12
Lgmd2h 11 47 24 53 69 49
Sarcotubular Myopathy 11 47 53 69 26
Limb-Girdle Muscular Dystrophy Type 2h 47 24 67
Muscular Dystrophy Hutterite Type 11 47 69
 
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 11 53
Limb-Girdle Muscular Dystrophy Due to Trim32 Deficiency 11 53
Muscular Dystrophy Limb-Girdle Type 2h 47
Limb-Girdle Muscular Dystrophy 2h 69
Lgmd 2h 24

Characteristics:

Orphanet epidemiological data:

53
lgmd2h:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood

HPO:

63
muscular dystrophy, limb-girdle, type 2h:
Inheritance: autosomal recessive inheritance
Onset and clinical course: slow progression, phenotypic variability

Classifications:



External Ids:

OMIM51 254110
Disease Ontology11 DOID:0110282
ICD1029 G71.0
Orphanet53 ORPHA1878
ICD10 via Orphanet30 G71.0
MedGen36 C0270968
MeSH38 D049288

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

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UniProtKB/Swiss-Prot:69 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, limb-girdle, type 2a and juvenile primary osteoporosis, 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 are Striated Muscle Contraction and Cardiac conduction. Affiliated tissues include skeletal muscle, and related mouse phenotypes are behavior/neurological and homeostasis/metabolism.

Disease Ontology:11 An autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.

Description from OMIM:51 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 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

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

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 2a10.9
2juvenile primary osteoporosis10.1CAPN3, FKRP
3longitudinal vaginal septum9.9TCAP, TTN
4cardiomyopathy, familial hypertrophic9.9TCAP, TTN
5cataract9.9CAPN3, DYSF
6miyoshi muscular dystrophy 19.9CAPN3, DYSF
7dystrophinopathies9.8CAPN3, DYSF
8myopathy9.8
9muscular dystrophy9.8
10limb-girdle muscular dystrophy9.8
11rippling muscle disease9.8DYSF, TTN
12bethlem myopathy 19.6CAPN3, DYSF
13classic variant of chromophobe renal cell carcinoma9.5CAPN3, DYSF, FKRP
14thrombocytopenia, x-linked9.5DYSF, FKRP
15adult malignant hemangiopericytoma9.4CAPN3, DYSF, TTN
16emery-dreifuss muscular dystrophy9.3CAPN3, DYSF, TCAP, TRIM32
17median arcuate ligament syndrome8.9CAPN3, DYSF, FKRP, TCAP, TRIM32

Graphical network of 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

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2h:

 63 53 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mask-like facies63 53 hallmark (90%) Very frequent (99-80%) HP:0000298
2 gait disturbance63 53 hallmark (90%) Very frequent (99-80%) HP:0001288
3 myopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0003198
4 emg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0003457
5 tall stature63 53 typical (50%) Frequent (79-30%) HP:0000098
6 hyporeflexia63 HP:0001265
7 areflexia63 HP:0001284
8 waddling gait63 53 Very frequent (99-80%) HP:0002515
9 elevated serum creatine phosphokinase63 53 Very frequent (99-80%) HP:0003236
10 gowers sign63 HP:0003391
11 emg63 HP:0003458
12 shoulder girdle muscle weakness63 HP:0003547
13 increased variability in muscle fiber diameter63 53 Very frequent (99-80%) HP:0003557
14 muscular dystrophy63 HP:0003560
15 centrally nucleated skeletal muscle fibers63 HP:0003687
16 calf muscle pseudohypertrophy63 HP:0003707
17 neck flexor weakness63 HP:0003722
18 shoulder girdle muscle atrophy63 HP:0003724
19 quadriceps muscle weakness63 HP:0003731
20 exercise-induced myalgia63 HP:0003738
21 pelvic girdle muscle weakness63 HP:0003749
22 pelvic girdle muscle atrophy63 HP:0008988
23 facial palsy63 HP:0010628
24 proximal muscle weakness in lower limbs53 Very frequent (99-80%)

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Type 2h:


waddling gait, facial paresis, quadriceps weakness, exercise-induced myalgia

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 Sarcotubular Myopathy26
2 Limb-Girdle Muscular Dystrophy Type 2h24 TRIM32

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

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

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.1DYSF, FKRP, PARK2, TCAP, TRIM32, TTN
2MP:00053767.5CAPN3, DYSF, FKRP, PARK2, TCAP, TRIM32
3MP:00053696.7CAPN3, 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:

69
id Symbol AA change Variation ID SNP ID
1TRIM32p.Asp487AsnVAR_018725rs111033570
2TRIM32p.Arg394HisVAR_042939rs121434447

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1TRIM32NM_012210.3(TRIM32): c.509T> A (p.Leu170Ter)SNVPathogenicrs886044692GRCh37Chr 9, 119460530: 119460530
2TRIM32NM_012210.3(TRIM32): c.1459G> A (p.Asp487Asn)SNVPathogenicrs111033570GRCh37Chr 9, 119461480: 119461480
3TRIM32TRIM32, 1-BP DEL, 1559CdeletionPathogenicChr na, -1: -1
4TRIM32NM_012210.3(TRIM32): c.1181G> A (p.Arg394His)SNVPathogenicrs121434447GRCh37Chr 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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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
1I bandGO:00316749.8TCAP, TTN
2T-tubuleGO:00303159.7CAPN3, DYSF
3sarcolemmaGO:00423839.3DYSF, FKRP
4Z discGO:00300189.0CAPN3, TCAP, TTN

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle thin filament assemblyGO:003024010.1TCAP, TTN
2skeletal muscle myosin thick filament assemblyGO:003024110.1TCAP, TTN
3sarcomerogenesisGO:004876910.1TCAP, TTN
4cardiac muscle tissue morphogenesisGO:005500810.0TCAP, TTN
5cardiac myofibril assemblyGO:00550039.9TCAP, TTN
6cardiac muscle hypertrophyGO:00033009.9TCAP, TTN
7detection of muscle stretchGO:00359959.9TCAP, TTN
8positive regulation of proteolysisGO:00458629.9CAPN3, TRIM32
9cardiac muscle fiber developmentGO:00487399.9TCAP, TTN
10response to calcium ionGO:00515929.7CAPN3, TTN
11positive regulation of tumor necrosis factor-mediated signaling pathwayGO:19032659.6PARK2, TRIM32
12muscle cell cellular homeostasisGO:00467169.6CAPN3, TRIM32
13muscle filament slidingGO:00300499.5TCAP, TTN
14positive regulation of protein catabolic processGO:00457329.5PARK2, TRIM32
15sarcomere organizationGO:00452149.5CAPN3, TCAP, TTN
16cardiac muscle contractionGO:00600489.4TCAP, TTN
17muscle contractionGO:00069369.3DYSF, TTN
18regulation of catalytic activityGO:00507909.1CAPN3, TTN

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

idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:00314329.8CAPN3, TCAP
2protein self-associationGO:00436219.3TRIM32, TTN
3ubiquitin bindingGO:00431309.2PARK2, TRIM32
4structural constituent of muscleGO:00083079.0CAPN3, TCAP, TTN

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet