LGMD1H
MCID: MSC058
MIFTS: 29

Muscular Dystrophy, Limb-Girdle, Type 1h (LGMD1H)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type 1h

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 1h:

Name: Muscular Dystrophy, Limb-Girdle, Type 1h 56 52 13 71
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h 12 52 58 15
Lgmd1h 56 12 52 58
Dystrophy, Muscular, Limb-Girdle, Type 1h 39
Limb-Girdle Muscular Dystrophy, Type 1h 29
Muscular Dystrophy Limb-Girdle Type 1h 12
Limb-Girdle Muscular Dystrophy Type 1h 52

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant limb-girdle muscular dystrophy type 1h
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

56
Miscellaneous:
variable expressivity
incomplete penetrance
slowly progressive
onset of muscle weakness in fifth decade
onset of calf hypotrophy may occur earlier
one family has been reported (as of august 2010)

Inheritance:
autosomal dominant


HPO:

31
muscular dystrophy, limb-girdle, type 1h:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity slow progression incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110303
OMIM 56 613530
OMIM Phenotypic Series 56 PS603511
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
Orphanet 58 ORPHA238755
MedGen 41 C3150786
UMLS 71 C3150786

Summaries for Muscular Dystrophy, Limb-Girdle, Type 1h

OMIM : 56 Limb-girdle muscular dystrophy type 1H (LGMD1H) is an autosomal dominant disorder characterized by adult onset of progressive proximal muscle weakness affecting both the upper and lower limbs (Bisceglia et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 (603511). (613530)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 1h, also known as autosomal dominant limb-girdle muscular dystrophy type 1h, is related to autosomal dominant limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 1h is LGMD1H (Limb Girdle Muscular Dystrophy 1H (Autosomal Dominant)). Affiliated tissues include skeletal muscle, and related phenotypes are centrally nucleated skeletal muscle fibers and muscle weakness

Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in with variation in the region 3p25.1-p23.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 1h

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 1h via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant limb-girdle muscular dystrophy 31.2 TNPO3 MYOT LGMD1H DNAJB6 CAV3
2 muscular dystrophy 29.7 TRAPPC11 TNPO3 MYOT LIMS2 LGMD1H DNAJB6
3 limb-girdle muscular dystrophy 28.8 TRAPPC11 TNPO3 MYOT DNAJB6 CAV3
4 myopathy, myofibrillar, 2 10.1 MYOT DNAJB6
5 autosomal recessive limb-girdle muscular dystrophy type 2j 10.0 MYOT CAV3
6 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 MYOT CAV3
7 autosomal recessive limb-girdle muscular dystrophy type 2g 10.0 MYOT CAV3
8 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 MYOT CAV3
9 autosomal recessive limb-girdle muscular dystrophy type 2c 10.0 MYOT CAV3
10 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 MYOT CAV3
11 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 MYOT CAV3
12 myopathy, myofibrillar, 3 9.9 MYOT CAV3
13 muscular dystrophy, becker type 9.9 MYOT CAV3
14 bethlem myopathy 1 9.9 MYOT CAV3
15 glycogen storage disease ii 9.8 GANC CAV3
16 miyoshi muscular dystrophy 9.8 MYOT CAV3
17 myopathy 9.8 MYOT DNAJB6 CAV3
18 myofibrillar myopathy 9.8 MYOT DNAJB6 CAV3
19 atrial standstill 1 9.7 MYOT CAV3
20 autosomal recessive limb-girdle muscular dystrophy 9.6 TRAPPC11 MYOT CAV3
21 muscular dystrophy-dystroglycanopathy , type c, 2 9.6 TRAPPC11 LIMS2
22 muscle tissue disease 9.6 MYOT CAV3
23 muscular disease 9.5 MYOT DNAJB6 CAV3
24 walker-warburg syndrome 9.5 TRAPPC11 MYOT CAV3
25 muscular dystrophy, limb-girdle, autosomal dominant 2 9.4 TNPO3 MYOT DNAJB6 CAV3
26 muscular dystrophy, limb-girdle, autosomal dominant 1 9.4 TNPO3 MYOT DNAJB6 CAV3
27 autosomal recessive limb-girdle muscular dystrophy type 2x 9.4 MYOT LIMS2 CAV3
28 muscular dystrophy-dystroglycanopathy , type c, 7 9.3 TRAPPC11 LIMS2 GANC
29 cardiomyopathy, dilated, 1g 9.3 TRAPPC11 LIMS2 GANC
30 muscular dystrophy-dystroglycanopathy , type c, 9 9.0 TRAPPC11 MYOT LIMS2 GANC
31 muscular dystrophy-dystroglycanopathy , type c, 14 8.9 TRAPPC11 TNPO3 LIMS2 GANC
32 autosomal recessive limb-girdle muscular dystrophy type 2w 8.6 TRAPPC11 TNPO3 MYOT LIMS2 GANC
33 muscular dystrophy, limb-girdle, autosomal recessive 2 8.6 TRAPPC11 MYOT LIMS2 GANC CAV3
34 autosomal recessive limb-girdle muscular dystrophy type 2q 8.4 TRAPPC11 TNPO3 MYOT LIMS2 DNAJB6 CAV3
35 muscular dystrophy, limb-girdle, autosomal dominant 3 8.0 TRAPPC11 TNPO3 MYOT LIMS2 GANC DNAJB6

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 1h:



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 1h

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 1h

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 1h:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 centrally nucleated skeletal muscle fibers 31 occasional (7.5%) HP:0003687
2 muscle weakness 31 HP:0001324
3 hyporeflexia 31 HP:0001265
4 proximal muscle weakness 31 HP:0003701
5 muscular dystrophy 31 HP:0003560
6 increased connective tissue 31 HP:0009025
7 calf muscle hypertrophy 31 HP:0008981
8 shoulder girdle muscle atrophy 31 HP:0003724
9 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
hyporeflexia

Laboratory Abnormalities:
increased serum creatine kinase

Muscle Soft Tissue:
increased connective tissue
shoulder girdle muscle atrophy
ragged red fibers
calf hypertrophy
subsarcolemmal mitochondrial accumulation
more

Clinical features from OMIM:

613530

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type 1h

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 1h

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 1h

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 1h:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1h 29

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 1h

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 1h:

40
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Type 1h

Articles related to Muscular Dystrophy, Limb-Girdle, Type 1h:

# Title Authors PMID Year
1
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. 61 56
20068593 2010
2
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 61
24647604 2014
3
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014

Variations for Muscular Dystrophy, Limb-Girdle, Type 1h

Expression for Muscular Dystrophy, Limb-Girdle, Type 1h

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 1h.

Pathways for Muscular Dystrophy, Limb-Girdle, Type 1h

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 1h

Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 1h according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 8.96 MYOT CAV3
2 Z disc GO:0030018 8.8 MYOT DNAJB6 CAV3

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 1h according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 8.62 MYOT CAV3

Sources for Muscular Dystrophy, Limb-Girdle, Type 1h

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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