MCID: MSC119
MIFTS: 43

Muscular Dystrophy, Limb-Girdle, Type 2h

Categories: Genetic diseases, Rare diseases, Muscle diseases, Metabolic diseases, Neuronal 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 53 13
Sarcotubular Myopathy 53 49 55 71 28
Lgmd2h 53 49 55 71 51
Limb-Girdle Muscular Dystrophy Type 2h 49 69
Muscular Dystrophy Hutterite Type 49 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 55
Limb-Girdle Muscular Dystrophy Due to Trim32 Deficiency 55
Muscular Dystrophy Limb-Girdle Type 2h 49
Muscular Dystrophy, Hutterite Type 53
Limb-Girdle Muscular Dystrophy 2h 71

Characteristics:

Orphanet epidemiological data:

55
autosomal recessive limb-girdle muscular dystrophy type 2h
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood;

OMIM:

53
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:

31
muscular dystrophy, limb-girdle, type 2h:
Onset and clinical course phenotypic variability slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 254110
Orphanet 55 ORPHA1878
UMLS via Orphanet 70 C0270968
ICD10 via Orphanet 33 G71.0
MedGen 39 C0270968
MeSH 41 D049288
UMLS 69 C0270968

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

UniProtKB/Swiss-Prot : 71 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-dystroglycanopathy , type c, 5, and has symptoms including waddling gait, elevated serum creatine phosphokinase and increased variability in muscle fiber diameter. 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 behavior/neurological and cardiovascular system

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Limb-girdle muscular dystrophy.

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 30.5 CAPN3 DYSF FKRP TRIM32
2 muscular dystrophy-dystroglycanopathy , type c, 5 27.9 CAPN3 DYSF FKRP TCAP TRIM32 TTN
3 limb-girdle muscular dystrophy 27.9 CAPN3 DYSF FKRP TCAP TRIM32 TTN
4 muscular dystrophy 27.8 CAPN3 DYSF FKRP TCAP TRIM32 TTN
5 myopathy 27.8 CAPN3 DYSF FKRP TCAP TRIM32 TTN
6 reducing body myopathy 11.1
7 muscular dystrophy, limb-girdle, type 1c 10.0 DYSF FKRP
8 autosomal dominant limb-girdle muscular dystrophy type 1c 10.0 DYSF FKRP
9 familial isolated dilated cardiomyopathy 9.9 TCAP TTN
10 autosomal recessive limb-girdle muscular dystrophy type 2f 9.9 CAPN3 DYSF
11 muscular dystrophy, limb-girdle, type 2l 9.9 DYSF FKRP
12 miyoshi muscular dystrophy 1 9.9 CAPN3 DYSF
13 muscular dystrophy, limb-girdle, type 2c 9.9 CAPN3 DYSF
14 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 CAPN3 DYSF
15 dysferlinopathy 9.8 CAPN3 DYSF
16 muscular dystrophy, limb-girdle, type 1a 9.8 CAPN3 FKRP TRIM32
17 isolated hyperckemia 9.8 CAPN3 FKRP TCAP
18 rigid spine muscular dystrophy 1 9.7 DYSF TTN
19 muscular dystrophy, limb-girdle, type 2j 9.7 CAPN3 FKRP TTN
20 bethlem myopathy 1 9.7 CAPN3 DYSF
21 muscular dystrophy, limb-girdle, type 2d 9.6 CAPN3 DYSF FKRP
22 muscle tissue disease 9.6 CAPN3 DYSF FKRP
23 distal muscular dystrophy 9.6 CAPN3 DYSF TTN
24 myositis 9.6 CAPN3 DYSF TTN
25 dilated cardiomyopathy 9.3 FKRP TCAP TTN
26 muscular dystrophy, limb-girdle, type 2g 9.1 CAPN3 DYSF FKRP TCAP TRIM32
27 autosomal recessive limb-girdle muscular dystrophy 9.1 CAPN3 DYSF FKRP TCAP TRIM32
28 muscular dystrophy, limb-girdle, type 2b 8.7 CAPN3 DYSF FKRP TCAP TRIM32 TTN
29 muscular dystrophy, limb-girdle, type 2f 8.7 CAPN3 DYSF FKRP TCAP TRIM32 TTN
30 muscular dystrophy, limb-girdle, type 2a 8.7 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:

53
MuscleSoftTissue:
waddling gait
quadriceps muscle weakness
pelvic girdle muscle weakness
shoulder girdle muscle weakness
shoulder girdle muscle atrophy
more
HeadAndNeckFace:
facial muscle weakness
'flat smile'

HeadAndNeckNeck:
neck flexor muscle weakness

NeurologicPeripheralNervousSystem:
areflexia
hyporeflexia

LaboratoryAbnormalities:
increased serum creatine kinase


Clinical features from OMIM:

254110

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

55 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 waddling gait 55 31 Very frequent (99-80%) HP:0002515
2 elevated serum creatine phosphokinase 55 31 Very frequent (99-80%) HP:0003236
3 increased variability in muscle fiber diameter 55 31 Very frequent (99-80%) HP:0003557
4 quadriceps muscle weakness 31 HP:0003731
5 exercise-induced myalgia 31 HP:0003738
6 gait disturbance 55 Very frequent (99-80%)
7 facial palsy 31 HP:0010628
8 myopathy 55 Very frequent (99-80%)
9 emg abnormality 55 Very frequent (99-80%)
10 mask-like facies 55 Very frequent (99-80%)
11 areflexia 31 HP:0001284
12 proximal muscle weakness in lower limbs 55 Very frequent (99-80%)
13 hyporeflexia 31 HP:0001265
14 tall stature 55 Frequent (79-30%)
15 muscular dystrophy 31 HP:0003560
16 centrally nucleated skeletal muscle fibers 31 HP:0003687
17 pelvic girdle muscle weakness 31 HP:0003749
18 shoulder girdle muscle weakness 31 HP:0003547
19 neck flexor weakness 31 HP:0003722
20 shoulder girdle muscle atrophy 31 HP:0003724
21 calf muscle pseudohypertrophy 31 HP:0003707
22 gowers sign 31 HP:0003391
23 pelvic girdle muscle atrophy 31 HP:0008988
24 emg 31 HP:0003458

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


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

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2h:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 TRIM32 TTN DYSF FKRP PRKN TCAP
2 cardiovascular system MP:0005385 9.55 TTN CAPN3 FKRP PRKN TCAP
3 homeostasis/metabolism MP:0005376 9.5 TTN CAPN3 DYSF FKRP PRKN TCAP
4 muscle MP:0005369 9.17 TTN CAPN3 DYSF FKRP PRKN TCAP

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 28 TRIM32

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

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

38
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:

71
# 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 TRIM32, 1-BP DEL, 1559C deletion Pathogenic
3 TRIM32 NM_012210.3(TRIM32): c.509T> A (p.Leu170Ter) single nucleotide variant Pathogenic rs886044692 GRCh37 Chromosome 9, 119460530: 119460530

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 sarcolemma GO:0042383 9.26 DYSF FKRP
2 T-tubule GO:0030315 9.16 CAPN3 DYSF
3 I band GO:0031674 8.96 TCAP TTN
4 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 positive regulation of proteolysis GO:0045862 9.51 CAPN3 TRIM32
8 muscle cell cellular homeostasis GO:0046716 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 hypertrophy GO:0003300 9.43 TCAP TTN
12 cardiac muscle fiber development GO:0048739 9.4 TCAP TTN
13 positive regulation of tumor necrosis factor-mediated signaling pathway GO:1903265 9.37 PRKN TRIM32
14 skeletal muscle thin filament assembly GO:0030240 9.32 TCAP TTN
15 detection of muscle stretch GO:0035995 9.26 TCAP TTN
16 skeletal muscle myosin thick filament assembly GO:0030241 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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