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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2h 54 13
Sarcotubular Myopathy 50 56 66 29
Lgmd2h 50 24 56 66
Limb-Girdle Muscular Dystrophy Type 2h 50 24 69
Muscular Dystrophy Hutterite Type 50 66
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 56
Limb-Girdle Muscular Dystrophy Due to Trim32 Deficiency 56
Muscular Dystrophy Limb-Girdle Type 2h 50
Limb-Girdle Muscular Dystrophy 2h 66
Lgmd 2h 24

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive limb-girdle muscular dystrophy type 2h
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 254110
Orphanet 56 ORPHA1878
ICD10 via Orphanet 34 G71.0
MedGen 40 C0270968
MeSH 42 D049288

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

UniProtKB/Swiss-Prot : 66 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, 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 homeostasis/metabolism

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 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)
id Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2h 32.4 CAPN3 DYSF FKRP TCAP TRIM32 TTN
2 muscular dystrophy 10.5
3 limb-girdle muscular dystrophy 10.5
4 sporadic hemiplegic migraine 10.1 CAPN3 FKRP
5 cerebral hemorrhage 10.1 CAPN3 DYSF
6 rippling muscle disease 10.1 DYSF FKRP
7 pancreatic agenesis 1 10.1 CAPN3 DYSF
8 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 10.0 CAPN3 DYSF
9 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.0 DYSF FKRP
10 deafness, autosomal recessive 18b 10.0 DYSF FKRP
11 ehlers-danlos syndrome, kyphoscoliotic form 10.0 CAPN3 DYSF
12 thrombocytopenia, x-linked 10.0 DYSF FKRP
13 myopathy, spheroid body 9.9 CAPN3 FKRP TRIM32
14 ullrich congenital muscular dystrophy 1 9.9 CAPN3 DYSF
15 asthma-related traits 6 9.9 CAPN3 DYSF FKRP
16 autosomal recessive limb-girdle muscular dystrophy type 2x 9.9 CAPN3 DYSF FKRP
17 creatine phosphokinase, elevated serum 9.9 DYSF TTN
18 cerebral angioma 9.9 CAPN3 DYSF FKRP
19 muscular dystrophy, rigid spine, 1 9.8 DYSF TTN
20 primary cutaneous gamma/delta-positive t-cell lymphoma 9.8 TCAP TTN
21 myopathy, early-onset, with fatal cardiomyopathy 9.8 CAPN3 FKRP TTN
22 lyme disease 9.8 CAPN3 DYSF TTN
23 vulvar eccrine adenocarcinoma 9.8 CAPN3 DYSF TTN
24 malignant hyperthermia susceptibility 9.7 CAPN3 DYSF TCAP TRIM32
25 neurodegeneration with brain iron accumulation 6 9.5 CAPN3 DYSF FKRP TCAP TRIM32
26 autosomal recessive limb-girdle muscular dystrophy type 2w 9.5 CAPN3 DYSF FKRP TCAP TRIM32
27 central corneal ulcer 9.5 CAPN3 DYSF FKRP TCAP TRIM32
28 emery-dreifuss muscular dystrophy, dominant type 9.5 FKRP TCAP TTN
29 myopathy, distal, with anterior tibial onset 9.2 CAPN3 DYSF FKRP TCAP TRIM32 TTN
30 congenital heart defects, multiple types, 3 9.2 CAPN3 DYSF FKRP TCAP TRIM32 TTN
31 spinocerebellar ataxia 11 9.2 CAPN3 DYSF FKRP TCAP TRIM32 TTN
32 charcot-marie-tooth disease, type 2b2 9.2 CAPN3 DYSF FKRP TCAP TRIM32 TTN
33 autosomal dominant limb-girdle muscular dystrophy type 1c 9.2 CAPN3 DYSF FKRP TCAP TRIM32 TTN
34 hypereosinophilic syndrome, idiopathic, resistant to imatinib 9.2 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 by clinical synopsis from OMIM:

254110

Clinical features from OMIM:

254110

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

56 32 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 waddling gait 56 32 Very frequent (99-80%) HP:0002515
2 elevated serum creatine phosphokinase 56 32 Very frequent (99-80%) HP:0003236
3 increased variability in muscle fiber diameter 56 32 Very frequent (99-80%) HP:0003557
4 quadriceps muscle weakness 32 HP:0003731
5 exercise-induced myalgia 32 HP:0003738
6 gait disturbance 56 Very frequent (99-80%)
7 facial palsy 32 HP:0010628
8 myopathy 56 Very frequent (99-80%)
9 emg abnormality 56 Very frequent (99-80%)
10 mask-like facies 56 Very frequent (99-80%)
11 areflexia 32 HP:0001284
12 proximal muscle weakness in lower limbs 56 Very frequent (99-80%)
13 hyporeflexia 32 HP:0001265
14 tall stature 56 Frequent (79-30%)
15 muscular dystrophy 32 HP:0003560
16 shoulder girdle muscle weakness 32 HP:0003547
17 shoulder girdle muscle atrophy 32 HP:0003724
18 calf muscle pseudohypertrophy 32 HP:0003707
19 gowers sign 32 HP:0003391
20 emg 32 HP:0003458
21 pelvic girdle muscle weakness 32 HP:0003749
22 centrally nucleated skeletal muscle fibers 32 HP:0003687
23 neck flexor weakness 32 HP:0003722
24 pelvic girdle muscle atrophy 32 HP:0008988

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 DYSF FKRP TCAP TRIM32 TTN
2 homeostasis/metabolism MP:0005376 9.43 TCAP TRIM32 TTN CAPN3 DYSF FKRP
3 muscle MP:0005369 9.1 CAPN3 DYSF FKRP TCAP TRIM32 TTN

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

Interventional clinical trials:


id Name Status NCT ID Phase
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:

id Genetic test Affiliating Genes
1 Sarcotubular Myopathy 29
2 Limb-Girdle Muscular Dystrophy Type 2h 24 TRIM32

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

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

39
Skeletal Muscle

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

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

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

66
id 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
id 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:

id 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)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.58 CAPN3 TRIM32
2 protein complex assembly GO:0006461 9.57 CAPN3 TCAP
3 muscle contraction GO:0006936 9.56 DYSF TTN
4 regulation of catalytic activity GO:0050790 9.55 CAPN3 TTN
5 response to calcium ion GO:0051592 9.54 CAPN3 TTN
6 cardiac muscle contraction GO:0060048 9.52 TCAP TTN
7 muscle filament sliding GO:0030049 9.51 TCAP TTN
8 positive regulation of proteolysis GO:0045862 9.49 CAPN3 TRIM32
9 muscle cell cellular homeostasis GO:0046716 9.48 CAPN3 TRIM32
10 cardiac muscle tissue morphogenesis GO:0055008 9.46 TCAP TTN
11 cardiac myofibril assembly GO:0055003 9.43 TCAP TTN
12 cardiac muscle fiber development GO:0048739 9.4 TCAP TTN
13 cardiac muscle hypertrophy GO:0003300 9.37 TCAP TTN
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:

id Name GO ID Score Top Affiliating Genes
1 protein self-association GO:0043621 9.16 TRIM32 TTN
2 titin binding GO:0031432 8.96 CAPN3 TCAP
3 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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