LGMDD4
MCID: MSC187
MIFTS: 25

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

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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 57 72 29 6
Muscular Dystrophy, Limb-Girdle, Type 1i 57 72
Lgmdd4 57 72
Lgmd1i 57 72
Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 4 39
Muscular Dystrophy, Limb-Girdle, Type 1i; Lgmd1i 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
muscular dystrophy, limb-girdle, autosomal dominant 4:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM® 57 618129
OMIM Phenotypic Series 57 PS603511
MeSH 44 D049288

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

UniProtKB/Swiss-Prot : 72 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, also known as muscular dystrophy, limb-girdle, type 1i, is related to calpain-3-related limb-girdle muscular dystrophy d4. 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 gait disturbance and hyperlordosis

OMIM® : 57 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) (Updated 20-May-2021)

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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
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, Autosomal Dominant 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 calpain-3-related limb-girdle muscular dystrophy d4 11.0

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

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 31 HP:0001288
2 hyperlordosis 31 HP:0003307
3 myopathy 31 HP:0003198
4 elevated serum creatine kinase 31 HP:0003236
5 back pain 31 HP:0003418
6 scapular winging 31 HP:0003691
7 myalgia 31 HP:0003326
8 proximal amyotrophy 31 HP:0007126
9 proximal muscle weakness 31 HP:0003701
10 abdominal wall muscle weakness 31 HP:0009023
11 muscle fiber splitting 31 HP:0003555

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
hyperlordosis
back pain

Muscle Soft Tissue:
myalgia
abdominal wall muscle weakness
muscle weakness, proximal
myopathic changes seen on emg
type 1 fiber predominance
more
Neurologic Central Nervous System:
gait difficulties

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

618129 (Updated 20-May-2021)

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

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

# Genetic test Affiliating Genes
1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 29 CAPN3

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

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

40
Skeletal Muscle

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

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

# Title Authors PMID Year
1
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21. 6 57
28881388 2018
2
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. 57 6
27259757 2016
3
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018

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

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

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAPN3 NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) Deletion Pathogenic 217159 rs863224965 GRCh37: 15:42681133-42681153
GRCh38: 15:42388935-42388955
2 CAPN3 NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) SNV Pathogenic 217148 rs774048743 GRCh37: 15:42652136-42652136
GRCh38: 15:42359938-42359938
3 CAPN3 NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) SNV Pathogenic 498267 rs142004418 GRCh37: 15:42695076-42695076
GRCh38: 15:42402878-42402878
4 CAPN3 NM_000070.3(CAPN3):c.1993-1G>A SNV Pathogenic 282494 rs369552114 GRCh37: 15:42701984-42701984
GRCh38: 15:42409786-42409786
5 CAPN3 NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) SNV Pathogenic 17614 rs121434544 GRCh37: 15:42695170-42695170
GRCh38: 15:42402972-42402972
6 CAPN3 NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) SNV Pathogenic 281505 rs200646556 GRCh37: 15:42691746-42691746
GRCh38: 15:42399548-42399548
7 CAPN3 NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) SNV Pathogenic 285572 rs764370512 GRCh37: 15:42702170-42702170
GRCh38: 15:42409972-42409972
8 CAPN3 NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg) SNV Pathogenic 556854 rs1345121557 GRCh37: 15:42681157-42681157
GRCh38: 15:42388959-42388959
9 CAPN3 NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) SNV Pathogenic 289644 rs147764579 GRCh37: 15:42693950-42693950
GRCh38: 15:42401752-42401752
10 CAPN3 NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter) SNV Pathogenic 242415 rs878854364 GRCh37: 15:42678424-42678424
GRCh38: 15:42386226-42386226
11 CAPN3 NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) SNV Pathogenic 217147 rs376107921 GRCh37: 15:42691815-42691815
GRCh38: 15:42399617-42399617
12 CAPN3 NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) SNV Pathogenic 166790 rs141656719 GRCh37: 15:42693952-42693952
GRCh38: 15:42401754-42401754
13 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) Deletion Pathogenic 17621 rs80338800 GRCh37: 15:42680001-42680001
GRCh38: 15:42387803-42387803
14 CAPN3 NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) SNV Pathogenic 128570 rs587780290 GRCh37: 15:42702844-42702844
GRCh38: 15:42410646-42410646
15 CAPN3 NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) SNV Pathogenic 166790 rs141656719 GRCh37: 15:42693952-42693952
GRCh38: 15:42401754-42401754
16 CAPN3 NM_000070.3(CAPN3):c.1715G>C (p.Arg572Pro) SNV Likely pathogenic 287131 rs121434544 GRCh37: 15:42695170-42695170
GRCh38: 15:42402972-42402972
17 CAPN3 NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) SNV Likely pathogenic 289372 rs199806879 GRCh37: 15:42700425-42700425
GRCh38: 15:42408227-42408227
18 CAPN3 NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) SNV Likely pathogenic 286592 rs886043432 GRCh37: 15:42694008-42694008
GRCh38: 15:42401810-42401810
19 CAPN3 NM_000070.3(CAPN3):c.1524+3G>A SNV Uncertain significance 286600 rs374188055 GRCh37: 15:42694011-42694011
GRCh38: 15:42401813-42401813
20 CAPN3 NM_000070.3(CAPN3):c.1516A>G (p.Ile506Val) SNV Uncertain significance 286601 rs140828326 GRCh37: 15:42694000-42694000
GRCh38: 15:42401802-42401802
21 CAPN3 NM_000070.3(CAPN3):c.1113T>A (p.Asp371Glu) SNV Uncertain significance 930311 GRCh37: 15:42686537-42686537
GRCh38: 15:42394339-42394339
22 CAPN3 NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met) SNV Uncertain significance 497181 rs144220513 GRCh37: 15:42693934-42693934
GRCh38: 15:42401736-42401736

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

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

3 CDC
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10 dbSNP
11 DGIdb
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31 HPO
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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