MCID: MSC119
MIFTS: 42

Muscular Dystrophy, Limb-Girdle, Type 2h

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

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

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 2h:

Name: Muscular Dystrophy, Limb-Girdle, Type 2h 57 13
Sarcotubular Myopathy 57 53 59 75 29 6
Lgmd2h 57 53 59 75 55
Limb-Girdle Muscular Dystrophy Type 2h 53 73
Muscular Dystrophy Hutterite Type 53 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 59
Limb-Girdle Muscular Dystrophy Due to Trim32 Deficiency 59
Dystrophy, Muscular, Limb-Girdle, Type 2h 40
Muscular Dystrophy Limb-Girdle Type 2h 53
Muscular Dystrophy, Hutterite Type 57
Limb-Girdle Muscular Dystrophy 2h 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2h
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
highly variable phenotype and severity
onset usually in childhood (1 to 9 years of age)
high frequency in hutterite population


HPO:

32
muscular dystrophy, limb-girdle, type 2h:
Onset and clinical course phenotypic variability slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 254110
Orphanet 59 ORPHA1878
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C0270968
MedGen 42 C0270968
MeSH 44 D049288
UMLS 73 C0270968

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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1878Disease definitionAutosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.Visit the Orphanet disease page for more resources.

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 limb-girdle muscular dystrophy, and has symptoms including waddling gait, facial paresis and quadriceps muscle weakness. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2h is TRIM32 (Tripartite Motif Containing 32), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are elevated serum creatine phosphokinase and waddling gait

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 254110

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

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z 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 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2h 30.0 CAPN3 DYSF FKRP TRIM32
2 limb-girdle muscular dystrophy 26.7 CAPN3 DYSF FKRP TCAP TRIM32 TTN
3 muscular dystrophy 26.7 CAPN3 DYSF FKRP TCAP TRIM32 TTN
4 myopathy 26.7 CAPN3 DYSF FKRP TCAP TRIM32 TTN
5 reducing body myopathy 11.1
6 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 CAPN3 FKRP
7 muscular dystrophy, limb-girdle, type 1c 10.0 DYSF FKRP
8 familial isolated dilated cardiomyopathy 10.0 TCAP TTN
9 autosomal dominant limb-girdle muscular dystrophy type 1c 9.9 DYSF FKRP
10 muscular dystrophy, limb-girdle, type 2l 9.9 DYSF FKRP
11 autosomal recessive limb-girdle muscular dystrophy type 2f 9.9 CAPN3 DYSF
12 muscular dystrophy, congenital, lmna-related 9.9 FKRP TTN
13 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 CAPN3 DYSF
14 muscular dystrophy, limb-girdle, type 2c 9.8 CAPN3 DYSF
15 dysferlinopathy 9.8 CAPN3 DYSF
16 muscular dystrophy, limb-girdle, type 1a 9.7 CAPN3 FKRP TRIM32
17 isolated hyperckemia 9.7 CAPN3 FKRP TCAP
18 rigid spine muscular dystrophy 1 9.6 DYSF TTN
19 muscular dystrophy, limb-girdle, type 2j 9.6 CAPN3 FKRP TTN
20 bethlem myopathy 1 9.5 CAPN3 DYSF
21 muscular dystrophy, limb-girdle, type 2d 9.4 CAPN3 DYSF FKRP
22 atrial standstill 1 9.4 FKRP TTN
23 muscle tissue disease 9.4 CAPN3 DYSF FKRP
24 distal muscular dystrophy 9.3 CAPN3 DYSF TTN
25 myositis 9.3 CAPN3 DYSF TTN
26 muscular dystrophy, limb-girdle, type 2g 8.6 CAPN3 DYSF FKRP TCAP TRIM32
27 autosomal recessive limb-girdle muscular dystrophy 8.5 CAPN3 DYSF FKRP TCAP TRIM32
28 muscular dystrophy, limb-girdle, type 2b 8.0 CAPN3 DYSF FKRP TCAP TRIM32 TTN
29 muscular dystrophy, limb-girdle, type 2f 7.9 CAPN3 DYSF FKRP TCAP TRIM32 TTN
30 muscular dystrophy-dystroglycanopathy , type c, 5 7.9 CAPN3 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Head And Neck Face:
facial muscle weakness
'flat smile'

Head And Neck Neck:
neck flexor muscle weakness

Muscle Soft Tissue:
quadriceps muscle weakness
waddling gait
pelvic girdle muscle weakness
shoulder girdle muscle weakness
shoulder girdle muscle atrophy
more
Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

254110

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

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 59 32 Very frequent (99-80%) HP:0003236
2 waddling gait 59 32 Very frequent (99-80%) HP:0002515
3 increased variability in muscle fiber diameter 59 32 Very frequent (99-80%) HP:0003557
4 gait disturbance 59 Very frequent (99-80%)
5 facial palsy 32 HP:0010628
6 myopathy 59 Very frequent (99-80%)
7 emg abnormality 59 Very frequent (99-80%)
8 mask-like facies 59 Very frequent (99-80%)
9 areflexia 32 HP:0001284
10 proximal muscle weakness in lower limbs 59 Very frequent (99-80%)
11 hyporeflexia 32 HP:0001265
12 tall stature 59 Frequent (79-30%)
13 muscular dystrophy 32 HP:0003560
14 exercise-induced myalgia 32 HP:0003738
15 quadriceps muscle weakness 32 HP:0003731
16 centrally nucleated skeletal muscle fibers 32 HP:0003687
17 pelvic girdle muscle weakness 32 HP:0003749
18 shoulder girdle muscle weakness 32 HP:0003547
19 neck flexor weakness 32 HP:0003722
20 shoulder girdle muscle atrophy 32 HP:0003724
21 calf muscle pseudohypertrophy 32 HP:0003707
22 gowers sign 32 HP:0003391
23 pelvic girdle muscle atrophy 32 HP:0008988
24 emg 32 HP:0003458

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 TCAP TRIM32 TTN DYSF FKRP PRKN
2 cardiovascular system MP:0005385 9.55 TCAP TTN CAPN3 FKRP PRKN
3 homeostasis/metabolism MP:0005376 9.5 TRIM32 TTN CAPN3 DYSF FKRP PRKN
4 muscle MP:0005369 9.17 TRIM32 TTN CAPN3 DYSF FKRP PRKN

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type 2h

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

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

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

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

# Genetic test Affiliating Genes
1 Sarcotubular Myopathy 29 TRIM32

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

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

41
Skeletal Muscle

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

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

# Title Authors Year
1
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. ( 15786463 )
2005

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

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

75
# Symbol AA change Variation ID SNP ID
1 TRIM32 p.Asp487Asn VAR_018725 rs111033570
2 TRIM32 p.Arg394His VAR_042939 rs121434447

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh37 Chromosome 9, 119461480: 119461480
2 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh38 Chromosome 9, 116699201: 116699201
3 TRIM32 TRIM32, 1-BP DEL, 1559C deletion Pathogenic
4 TRIM32 NM_012210.3(TRIM32): c.509T> A (p.Leu170Ter) single nucleotide variant Pathogenic rs886044692 GRCh37 Chromosome 9, 119460530: 119460530
5 TRIM32 NM_012210.3(TRIM32): c.509T> A (p.Leu170Ter) single nucleotide variant Pathogenic rs886044692 GRCh38 Chromosome 9, 116698251: 116698251
6 TRIM32 NM_012210.3(TRIM32): c.116_122delGTGGCCA (p.Cys39Leufs) deletion Likely pathogenic GRCh37 Chromosome 9, 119460137: 119460143
7 TRIM32 NM_012210.3(TRIM32): c.116_122delGTGGCCA (p.Cys39Leufs) deletion Likely pathogenic GRCh38 Chromosome 9, 116697858: 116697864
8 TRIM32 NM_012210.3(TRIM32): c.691delG (p.Ala231Glnfs) deletion Pathogenic/Likely pathogenic rs747685252 GRCh37 Chromosome 9, 119460712: 119460712
9 TRIM32 NM_012210.3(TRIM32): c.691delG (p.Ala231Glnfs) deletion Pathogenic/Likely pathogenic rs747685252 GRCh38 Chromosome 9, 116698433: 116698433

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

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

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

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

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.8 CAPN3 FKRP PRKN TCAP TRIM32 TTN
2 sarcolemma GO:0042383 9.26 DYSF FKRP
3 T-tubule GO:0030315 9.16 CAPN3 DYSF
4 I band GO:0031674 8.96 TCAP TTN
5 Z disc GO:0030018 8.8 CAPN3 TCAP TTN

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.58 DYSF TTN
2 regulation of catalytic activity GO:0050790 9.57 CAPN3 TTN
3 positive regulation of protein catabolic process GO:0045732 9.56 PRKN TRIM32
4 response to calcium ion GO:0051592 9.55 CAPN3 TTN
5 cardiac muscle contraction GO:0060048 9.54 TCAP TTN
6 muscle filament sliding GO:0030049 9.52 TCAP TTN
7 muscle cell cellular homeostasis GO:0046716 9.51 CAPN3 TRIM32
8 positive regulation of proteolysis GO:0045862 9.49 CAPN3 TRIM32
9 cardiac myofibril assembly GO:0055003 9.48 TCAP TTN
10 cardiac muscle tissue morphogenesis GO:0055008 9.46 TCAP TTN
11 cardiac muscle fiber development GO:0048739 9.43 TCAP TTN
12 cardiac muscle hypertrophy GO:0003300 9.4 TCAP TTN
13 skeletal muscle thin filament assembly GO:0030240 9.37 TCAP TTN
14 positive regulation of tumor necrosis factor-mediated signaling pathway GO:1903265 9.32 PRKN TRIM32
15 skeletal muscle myosin thick filament assembly GO:0030241 9.26 TCAP TTN
16 detection of muscle stretch GO:0035995 9.16 TCAP TTN
17 sarcomerogenesis GO:0048769 8.96 TCAP TTN
18 sarcomere organization GO:0045214 8.8 CAPN3 TCAP TTN

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin binding GO:0043130 9.26 PRKN TRIM32
2 protein self-association GO:0043621 9.16 TRIM32 TTN
3 titin binding GO:0031432 8.96 CAPN3 TCAP
4 structural constituent of muscle GO:0008307 8.8 CAPN3 TCAP TTN

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....