LGMD2H
MCID: MSC119
MIFTS: 41

Muscular Dystrophy, Limb-Girdle, Type 2h (LGMD2H) 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 52 12
Sarcotubular Myopathy 48 54 70 27
Lgmd2h 48 24 54 70
Limb-Girdle Muscular Dystrophy Type 2h 48 24 68
Muscular Dystrophy Hutterite Type 48 70
 
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 54
Limb-Girdle Muscular Dystrophy Due to Trim32 Deficiency 54
Muscular Dystrophy Limb-Girdle Type 2h 48
Limb-Girdle Muscular Dystrophy 2h 70
Lgmd 2h 24

Characteristics:

Orphanet epidemiological data:

54
sarcotubular myopathy:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood

HPO:

64
muscular dystrophy, limb-girdle, type 2h:
Inheritance: autosomal recessive inheritance
Onset and clinical course: slow progression, phenotypic variability

Classifications:



External Ids:

OMIM52 254110
Orphanet54 ORPHA1878
ICD10 via Orphanet31 G71.0
MedGen37 C0270968
MeSH39 D049288

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

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UniProtKB/Swiss-Prot:70 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 sarcotubular myopathy, is related to autosomal recessive limb-girdle muscular dystrophy type 2h and muscular dystrophy, and has symptoms including waddling gait, waddling gait and facial paresis. 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.

Description from OMIM:52 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 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Limb-Girdle Muscular Dystrophy 2z

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

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive limb-girdle muscular dystrophy type 2h32.4CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
2muscular dystrophy10.5
3limb-girdle muscular dystrophy10.5
4sporadic hemiplegic migraine10.1CAPN3, FKRP
5cerebral hemorrhage10.1CAPN3, DYSF
6rippling muscle disease10.1DYSF, FKRP
7pancreatic agenesis 110.1CAPN3, DYSF
8craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies10.0CAPN3, DYSF
9osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures10.0DYSF, FKRP
10deafness, autosomal recessive 18b10.0DYSF, FKRP
11ehlers-danlos syndrome, kyphoscoliotic form10.0CAPN3, DYSF
12thrombocytopenia, x-linked10.0DYSF, FKRP
13myopathy, spheroid body9.9CAPN3, FKRP, TRIM32
14ullrich congenital muscular dystrophy 19.9CAPN3, DYSF
15asthma-related traits 69.9CAPN3, DYSF, FKRP
16autosomal recessive limb-girdle muscular dystrophy type 2x9.9CAPN3, DYSF, FKRP
17creatine phosphokinase, elevated serum9.9DYSF, TTN
18cerebral angioma9.9CAPN3, DYSF, FKRP
19muscular dystrophy, rigid spine, 19.8DYSF, TTN
20primary cutaneous gamma/delta-positive t-cell lymphoma9.8TCAP, TTN
21myopathy, early-onset, with fatal cardiomyopathy9.8CAPN3, FKRP, TTN
22lyme disease9.8CAPN3, DYSF, TTN
23vulvar eccrine adenocarcinoma9.8CAPN3, DYSF, TTN
24malignant hyperthermia susceptibility9.7CAPN3, DYSF, TCAP, TRIM32
25neurodegeneration with brain iron accumulation 69.5CAPN3, DYSF, FKRP, TCAP, TRIM32
26autosomal recessive limb-girdle muscular dystrophy type 2w9.5CAPN3, DYSF, FKRP, TCAP, TRIM32
27central corneal ulcer9.5CAPN3, DYSF, FKRP, TCAP, TRIM32
28emery-dreifuss muscular dystrophy, dominant type9.5FKRP, TCAP, TTN
29myopathy, distal, with anterior tibial onset9.2CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
30congenital heart defects, multiple types, 39.2CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
31spinocerebellar ataxia 119.2CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
32charcot-marie-tooth disease, type 2b29.2CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
33autosomal dominant limb-girdle muscular dystrophy type 1c9.2CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
34hypereosinophilic syndrome, idiopathic, resistant to imatinib9.2CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN

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 & Phenotypes 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:

 54 64 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature54 Frequent (79-30%)
2 mask-like facies54 Very frequent (99-80%)
3 gait disturbance54 Very frequent (99-80%)
4 waddling gait64 54 Very frequent (99-80%) HP:0002515
5 myopathy54 Very frequent (99-80%)
6 elevated serum creatine phosphokinase64 54 Very frequent (99-80%) HP:0003236
7 emg abnormality54 Very frequent (99-80%)
8 increased variability in muscle fiber diameter64 54 Very frequent (99-80%) HP:0003557
9 proximal muscle weakness in lower limbs54 Very frequent (99-80%)
10 hyporeflexia64 HP:0001265
11 areflexia64 HP:0001284
12 gowers sign64 HP:0003391
13 emg64 HP:0003458
14 shoulder girdle muscle weakness64 HP:0003547
15 muscular dystrophy64 HP:0003560
16 centrally nucleated skeletal muscle fibers64 HP:0003687
17 calf muscle pseudohypertrophy64 HP:0003707
18 neck flexor weakness64 HP:0003722
19 shoulder girdle muscle atrophy64 HP:0003724
20 quadriceps muscle weakness64 HP:0003731
21 exercise-induced myalgia64 HP:0003738
22 pelvic girdle muscle weakness64 HP:0003749
23 pelvic girdle muscle atrophy64 HP:0008988
24 facial palsy64 HP:0010628

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


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

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.4DYSF, FKRP, TCAP, TRIM32, TTN
2MP:00053767.8CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
3MP:00053697.1CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN

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 Myopathy27
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:

36
Skeletal muscle

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:

70
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_ 001099679.1(TRIM32): c.1459G> A (p.Asp487Asn)SNVPathogenicrs111033570GRCh37Chr 9, 119461480: 119461480
3TRIM32TRIM32, 1-BP DEL, 1559CdeletionPathogenic

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
1T-tubuleGO:003031510.0CAPN3, DYSF
2sarcolemmaGO:004238310.0DYSF, FKRP
3I bandGO:00316749.6TCAP, TTN
4Z discGO:00300188.6CAPN3, 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
1muscle cell cellular homeostasisGO:004671610.3CAPN3, TRIM32
2positive regulation of NF-kappaB transcription factor activityGO:005109210.2CAPN3, TRIM32
3positive regulation of proteolysisGO:004586210.2CAPN3, TRIM32
4protein complex assemblyGO:000646110.0CAPN3, TCAP
5muscle contractionGO:00069369.8DYSF, TTN
6regulation of catalytic activityGO:00507909.7CAPN3, TTN
7cardiac muscle contractionGO:00600489.7TCAP, TTN
8cardiac muscle fiber developmentGO:00487399.7TCAP, TTN
9cardiac muscle hypertrophyGO:00033009.7TCAP, TTN
10cardiac muscle tissue morphogenesisGO:00550089.7TCAP, TTN
11cardiac myofibril assemblyGO:00550039.7TCAP, TTN
12detection of muscle stretchGO:00359959.7TCAP, TTN
13muscle filament slidingGO:00300499.7TCAP, TTN
14response to calcium ionGO:00515929.7CAPN3, TTN
15sarcomerogenesisGO:00487699.2TCAP, TTN
16skeletal muscle myosin thick filament assemblyGO:00302419.1TCAP, TTN
17skeletal muscle thin filament assemblyGO:00302409.0TCAP, TTN
18sarcomere organizationGO:00452148.8CAPN3, TCAP, TTN

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

idNameGO IDScoreTop Affiliating Genes
1protein self-associationGO:00436219.7TRIM32, TTN
2titin bindingGO:00314329.4CAPN3, TCAP
3structural constituent of muscleGO:00083078.9CAPN3, TCAP, TTN

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet