LGMDD4
MCID: MSC187
MIFTS: 22

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 (LGMDD4)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 58 76 6
Muscular Dystrophy, Limb-Girdle, Type 1i 58 76
Lgmdd4 58 76
Lgmd1i 58 76
Muscular Dystrophy, Limb-Girdle, Type 1i; Lgmd1i 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
some patients may become wheelchair-bound
adult onset (average 37 years)
some mutation carriers may be asymptomatic
reported in families of northern european descent who share the same mutation


HPO:

33
muscular dystrophy, limb-girdle, autosomal dominant 4:
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 58 618129
MeSH 45 D049288
MedGen 43 CN253839

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

UniProtKB/Swiss-Prot : 76 Muscular dystrophy, limb-girdle, autosomal dominant 4: A form of autosomal dominant limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDD4 is characterized by onset of proximal muscle weakness in young adulthood, gait difficulties, increased serum creatine kinase, myalgia, and back pain. Some patients may have upper limb involvement. Disease severity and expressivity are highly variable.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4, is also known as muscular dystrophy, limb-girdle, type 1i. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 is CAPN3 (Calpain 3). Affiliated tissues include skeletal muscle, and related phenotypes are hyperlordosis and myopathy

OMIM : 58 Autosomal dominant limb-girdle muscular dystrophy-4 is characterized by onset of proximal muscle weakness in young adulthood. Affected individuals often have gait difficulties; some may have upper limb involvement. Other features include variably increased serum creatine kinase, myalgia, and back pain. The severity and expressivity of the disorder is highly variable, even within families (summary by Vissing et al., 2016). For a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see 603511. (618129)

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

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

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hyperlordosis 33 HP:0003307
2 myopathy 33 HP:0003198
3 abdominal wall muscle weakness 33 HP:0009023
4 back pain 33 HP:0003418
5 myalgia 33 HP:0003326
6 proximal muscle weakness 33 HP:0003701
7 proximal amyotrophy 33 HP:0007126
8 muscle fiber splitting 33 HP:0003555

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
hyperlordosis
back pain

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Neurologic Central Nervous System:
gait difficulties

Muscle Soft Tissue:
abdominal wall muscle weakness
myalgia
muscle weakness, proximal
type 1 fiber predominance
fiber splitting
more
Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

618129

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4:

42
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4:

# Title Authors Year
1
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21. ( 28881388 )
2018
2
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. ( 27259757 )
2016

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAPN3 NM_000070.2(CAPN3): c.1468C> T (p.Arg490Trp) single nucleotide variant Pathogenic/Likely pathogenic rs141656719 GRCh37 Chromosome 15, 42693952: 42693952
2 CAPN3 NM_000070.2(CAPN3): c.1468C> T (p.Arg490Trp) single nucleotide variant Pathogenic/Likely pathogenic rs141656719 GRCh38 Chromosome 15, 42401754: 42401754
3 CAPN3 NM_000070.2(CAPN3): c.1319G> A (p.Arg440Gln) single nucleotide variant Pathogenic/Likely pathogenic rs376107921 GRCh37 Chromosome 15, 42691815: 42691815
4 CAPN3 NM_000070.2(CAPN3): c.1319G> A (p.Arg440Gln) single nucleotide variant Pathogenic/Likely pathogenic rs376107921 GRCh38 Chromosome 15, 42399617: 42399617
5 CAPN3 NM_000070.2(CAPN3): c.133G> A (p.Ala45Thr) single nucleotide variant Pathogenic/Likely pathogenic rs774048743 GRCh37 Chromosome 15, 42652136: 42652136
6 CAPN3 NM_000070.2(CAPN3): c.133G> A (p.Ala45Thr) single nucleotide variant Pathogenic/Likely pathogenic rs774048743 GRCh38 Chromosome 15, 42359938: 42359938
7 CAPN3 NM_000070.2(CAPN3): c.643_663del(p.Ser215_Gly221del) deletion Pathogenic/Likely pathogenic rs863224965 GRCh37 Chromosome 15, 42681136: 42681156
8 CAPN3 NM_000070.2(CAPN3): c.643_663del(p.Ser215_Gly221del) deletion Pathogenic/Likely pathogenic rs863224965 GRCh38 Chromosome 15, 42388938: 42388958
9 CAPN3 NM_000070.2(CAPN3): c.439C> T (p.Arg147Ter) single nucleotide variant Pathogenic rs878854364 GRCh38 Chromosome 15, 42386226: 42386226
10 CAPN3 NM_000070.2(CAPN3): c.439C> T (p.Arg147Ter) single nucleotide variant Pathogenic rs878854364 GRCh37 Chromosome 15, 42678424: 42678424
11 CAPN3 NM_000070.2(CAPN3): c.1993-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs369552114 GRCh37 Chromosome 15, 42701984: 42701984
12 CAPN3 NM_000070.2(CAPN3): c.1993-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs369552114 GRCh38 Chromosome 15, 42409786: 42409786
13 CAPN3 NM_000070.2(CAPN3): c.1817C> T (p.Ser606Leu) single nucleotide variant Likely pathogenic rs199806879 GRCh37 Chromosome 15, 42700425: 42700425
14 CAPN3 NM_000070.2(CAPN3): c.1817C> T (p.Ser606Leu) single nucleotide variant Likely pathogenic rs199806879 GRCh38 Chromosome 15, 42408227: 42408227
15 CAPN3 NM_000070.2(CAPN3): c.1450C> A (p.Leu484Met) single nucleotide variant Uncertain significance rs144220513 GRCh38 Chromosome 15, 42401736: 42401736
16 CAPN3 NM_000070.2(CAPN3): c.1450C> A (p.Leu484Met) single nucleotide variant Uncertain significance rs144220513 GRCh37 Chromosome 15, 42693934: 42693934
17 CAPN3 NM_000070.2(CAPN3): c.1621C> T (p.Arg541Trp) single nucleotide variant Pathogenic/Likely pathogenic rs142004418 GRCh37 Chromosome 15, 42695076: 42695076
18 CAPN3 NM_000070.2(CAPN3): c.1621C> T (p.Arg541Trp) single nucleotide variant Pathogenic/Likely pathogenic rs142004418 GRCh38 Chromosome 15, 42402878: 42402878

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

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