MCID: MSC119
MIFTS: 28

Muscular Dystrophy, Limb-Girdle, Type 2h malady

Categories: Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases, Metabolic 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 49 11
Lgmd2h 45 22 47 67
Limb-Girdle Muscular Dystrophy Type 2h 45 22 65
Sarcotubular Myopathy 45 67 24
 
Muscular Dystrophy Hutterite Type 45 67
Muscular Dystrophy Limb-Girdle Type 2h 45
Limb-Girdle Muscular Dystrophy 2h 67
Lgmd 2h 22

Characteristics:

HPO:

61
muscular dystrophy, limb-girdle, type 2h:
Onset and clinical course: phenotypic variability, slow progression
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 254110
MedGen34 C0270968
MeSH36 D049288
UMLS65 C0270968

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 autosomal recessive limb-girdle muscular dystrophy type 2h and pancreatic cancer, and has symptoms including emg abnormality, myopathy and gait disturbance. 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 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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
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 29)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive limb-girdle muscular dystrophy type 2h12.9
2pancreatic cancer10.5
3pancreatitis10.5
4thyroid cancer10.5
5thyroiditis10.5
6neuropathy10.5
7juvenile batten disease10.1CAPN3, FKRP
8myopathy with deficiency of iscu10.0TCAP, TTN
9transverse vaginal septum10.0TCAP, TTN
10muscular dystrophy, limb-girdle, type ic10.0DYSF, FKRP
11dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease9.9CAPN3, DYSF
12miyoshi muscular dystrophy 19.9CAPN3, DYSF
13cardiomyopathy, familial hypertrophic9.9TCAP, TTN
14immature teratoma of ovary9.9CAPN3, TTN
15immunodeficiency 34, mycobacteriosis, x-linked9.9DYSF, FKRP
16kummell's disease9.7CAPN3, DYSF, FKRP
17limb-girdle muscular dystrophy9.7CAPN3, DYSF, TTN
18cornelia de lange syndrome9.5CAPN3, DYSF, TCAP, TRIM32
19cardiomyopathy with or without skeletal myopathy9.5FKRP, TCAP, TTN
20lmna-related muscle diseases9.1CAPN3, DYSF, FKRP, TCAP, TTN
21muscular dystrophy, limb-girdle, type 2b8.9CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
22mast cell disease8.9CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
23myopathy, myofibrillar, 38.9CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
24cardiomyopathy, dilated, 1l8.9CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
25cardiomyopathy, hypertrophic, 258.9CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
26glycogen storage disease 0, muscle8.9CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
27cartilage disease8.9CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
28alternating esotropia8.9CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
29bardet-biedl syndrome 118.4CAPN3, 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 23)
id Description Frequency HPO Source Accession
1 emg abnormality hallmark (90%) HP:0003457
2 myopathy hallmark (90%) HP:0003198
3 gait disturbance hallmark (90%) HP:0001288
4 mask-like facies hallmark (90%) HP:0000298
5 tall stature typical (50%) HP:0000098
6 facial palsy HP:0010628
7 pelvic girdle muscle atrophy HP:0008988
8 pelvic girdle muscle weakness HP:0003749
9 exercise-induced myalgia HP:0003738
10 quadriceps muscle weakness HP:0003731
11 shoulder girdle muscle atrophy HP:0003724
12 neck flexor weakness HP:0003722
13 calf muscle pseudohypertrophy HP:0003707
14 centrally nucleated skeletal muscle fibers HP:0003687
15 muscular dystrophy HP:0003560
16 increased variability in muscle fiber diameter HP:0003557
17 shoulder girdle muscle weakness HP:0003547
18 emg HP:0003458
19 gowers sign HP:0003391
20 elevated serum creatine phosphokinase HP:0003236
21 waddling gait HP:0002515
22 areflexia HP:0001284
23 hyporeflexia HP:0001265

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

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:00053867.3DYSF, FKRP, PARK2, TCAP, TRIM32, TTN
2MP:00053696.7CAPN3, DYSF, FKRP, PARK2, TCAP, TRIM32
3MP:00053766.4CAPN3, 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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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
1sarcolemmaGO:00423839.4DYSF, FKRP
2T-tubuleGO:00303159.0CAPN3, DYSF

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

idNameGO IDScoreTop Affiliating Genes
1cardiac myofibril assemblyGO:00550039.9TCAP, TTN
2sarcomerogenesisGO:00487699.8TCAP, TTN
3muscle filament slidingGO:00300499.7TCAP, TTN
4positive regulation of NF-kappaB transcription factor activityGO:00510929.6CAPN3, TRIM32
5cardiac muscle contractionGO:00600489.5TCAP, TTN
6sarcomere organizationGO:00452149.5CAPN3, TTN

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

idNameGO IDScoreTop Affiliating Genes
1protein self-associationGO:00436219.6TRIM32, TTN

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