MCID: MSC058
MIFTS: 31

Muscular Dystrophy, Limb-Girdle, Type 1h

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 57 53 13 73
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h 12 53 59 15
Lgmd1h 57 12 53 59
Dystrophy, Muscular, Limb-Girdle, Type 1h 40
Limb-Girdle Muscular Dystrophy, Type 1h 29
Muscular Dystrophy Limb-Girdle Type 1h 12
Limb-Girdle Muscular Dystrophy Type 1h 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

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


HPO:

32
muscular dystrophy, limb-girdle, type 1h:
Onset and clinical course variable expressivity incomplete penetrance slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613530
Disease Ontology 12 DOID:0110303
ICD10 33 G71.0
Orphanet 59 ORPHA238755
ICD10 via Orphanet 34 G71.0
MedGen 42 C3150786
UMLS 73 C3150786

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

OMIM : 57 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 muscle weakness and elevated serum creatine phosphokinase

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 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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant limb-girdle muscular dystrophy 29.6 DNAJB6 MYOT TNPO3
2 muscular dystrophy 29.4 DNAJB6 HNRNPDL MYOT TNPO3
3 limb-girdle muscular dystrophy 29.3 DNAJB6 HNRNPDL MYOT TNPO3
4 perrault syndrome 1 11.1
5 autosomal recessive limb-girdle muscular dystrophy type 2w 10.0 HNRNPDL TNPO3
6 muscular dystrophy-dystroglycanopathy , type c, 9 10.0 HNRNPDL TNPO3
7 muscular dystrophy-dystroglycanopathy , type c, 14 10.0 HNRNPDL TNPO3
8 muscular dystrophy-dystroglycanopathy , type c, 1 10.0 HNRNPDL TNPO3
9 muscular dystrophy-dystroglycanopathy , type c, 7 9.9 HNRNPDL TNPO3
10 autosomal recessive limb-girdle muscular dystrophy type 2r 9.9 HNRNPDL TNPO3
11 muscular dystrophy-dystroglycanopathy , type c, 3 9.9 HNRNPDL TNPO3
12 muscular dystrophy-dystroglycanopathy , type c, 2 9.9 HNRNPDL TNPO3
13 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 DNAJB6 MYOT
14 myopathy, myofibrillar, 3 9.8 DNAJB6 MYOT
15 myopathy, spheroid body 9.8 DNAJB6 MYOT
16 myofibrillar myopathy 9.8 DNAJB6 MYOT
17 muscular disease 9.7 DNAJB6 MYOT
18 autosomal dominant limb-girdle muscular dystrophy type 1b 9.7 DNAJB6 HNRNPDL TNPO3
19 autosomal dominant limb-girdle muscular dystrophy type 1c 9.7 DNAJB6 HNRNPDL TNPO3
20 autosomal recessive limb-girdle muscular dystrophy type 2q 9.5 DNAJB6 HNRNPDL MYOT TNPO3
21 autosomal dominant limb-girdle muscular dystrophy type 1f 9.5 DNAJB6 HNRNPDL MYOT TNPO3
22 autosomal dominant limb-girdle muscular dystrophy type 1g 9.5 DNAJB6 HNRNPDL MYOT TNPO3
23 muscular dystrophy, limb-girdle, autosomal dominant 1 9.5 DNAJB6 HNRNPDL MYOT TNPO3

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 elevated serum creatine phosphokinase 32 HP:0003236
3 hyporeflexia 32 HP:0001265
4 proximal muscle weakness 32 HP:0003701
5 muscular dystrophy 32 HP:0003560
6 increased connective tissue 32 HP:0009025
7 centrally nucleated skeletal muscle fibers 32 occasional (7.5%) HP:0003687
8 calf muscle hypertrophy 32 HP:0008981
9 shoulder girdle muscle atrophy 32 HP:0003724

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HIV-1 infection GR00226-A 8.62 HNRNPDL TNPO3

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:

41
Skeletal Muscle

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

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 Z disc GO:0030018 8.62 DNAJB6 MYOT

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

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
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