MCID: MSC119
MIFTS: 27

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 50 12
Lgmd2h 46 23 52 68 48
Sarcotubular Myopathy 46 52 68 25
Limb-Girdle Muscular Dystrophy Type 2h 46 23 66
Muscular Dystrophy Hutterite Type 46 68
 
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 52
Limb-Girdle Muscular Dystrophy Due to Trim32 Deficiency 52
Muscular Dystrophy Limb-Girdle Type 2h 46
Limb-Girdle Muscular Dystrophy 2h 68
Lgmd 2h 23

Characteristics:

Orphanet epidemiological data:

52
lgmd2h:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood

HPO:

62
muscular dystrophy, limb-girdle, type 2h:
Inheritance: autosomal recessive inheritance
Onset and clinical course: slow progression, phenotypic variability


Classifications:



External Ids:

OMIM50 254110
Orphanet52 ORPHA1878
ICD10 via Orphanet29 G71.0
MedGen35 C0270968
MeSH37 D049288

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

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UniProtKB/Swiss-Prot:68 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 limb-girdle muscular dystrophy and 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). Affiliated tissues include skeletal muscle.

Description from OMIM:50 254110

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

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

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Symptoms by clinical synopsis from OMIM:

254110

Clinical features from OMIM:

254110

Symptoms:

 52 (show all 9)
  • tall stature
  • mask-like facies
  • gait disturbance
  • waddling gait
  • myopathy
  • elevated serum creatine phosphokinase
  • emg abnormality
  • increased variability in muscle fiber diameter
  • proximal muscle weakness in lower limbs

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

(show all 23)
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 hyporeflexia HP:0001265
7 areflexia HP:0001284
8 waddling gait HP:0002515
9 elevated serum creatine phosphokinase HP:0003236
10 gowers sign HP:0003391
11 emg HP:0003458
12 shoulder girdle muscle weakness HP:0003547
13 increased variability in muscle fiber diameter HP:0003557
14 muscular dystrophy HP:0003560
15 centrally nucleated skeletal muscle fibers HP:0003687
16 calf muscle pseudohypertrophy HP:0003707
17 neck flexor weakness HP:0003722
18 shoulder girdle muscle atrophy HP:0003724
19 quadriceps muscle weakness HP:0003731
20 exercise-induced myalgia HP:0003738
21 pelvic girdle muscle weakness HP:0003749
22 pelvic girdle muscle atrophy HP:0008988
23 facial palsy HP:0010628

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 Myopathy25
2 Limb-Girdle Muscular Dystrophy Type 2h23 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:

34
Skeletal muscle

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

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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:

68
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
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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Sources for Muscular Dystrophy, Limb-Girdle, Type 2h

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet