MCID: MSC103
MIFTS: 37

Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle diseases, Mental diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 4 57 53 13
Lgmd2m 57 12 53 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m 12 53 59 15
Mddgc4 57 12 75
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C4 29 6
Muscular Dystrophy, Limb-Girdle, Type 2m 57 73
Limb-Girdle Muscular Dystrophy Type 2m 53 75
Muscular Dystrophy Due to Defective Glycosylation of Dystroglycan 4c 75
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4 75
Muscular Dystrophy, Limb-Girdle, Type 2m; Lgmd2m 57
Muscular Dystrophy-Dystroglycanopathy Type C 4 12
Dystrophy, Muscular, Limb-Girdle, Type 2m ) 40
Mdgd4c 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2m
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
progressive disorder
symptoms are aggravated by febrile illness
good response to steroid treatment


HPO:

32
muscular dystrophy-dystroglycanopathy , type c, 4:
Onset and clinical course variable expressivity infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

OMIM : 57 MDDGC4 is an autosomal recessive muscular dystrophy with onset in infancy or early childhood. Cognition and brain structure are usually normal (Godfrey et al., 2006). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009). (611588)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 4, also known as lgmd2m, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 4 is FKTN (Fukutin), and among its related pathways/superpathways is Mannose type O-glycan biosynthesis. Affiliated tissues include brain and skeletal muscle, and related phenotypes are pectus excavatum and muscular hypotonia

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31.

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy limb-girdle C4: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 28.4 FKRP FKTN HNRNPDL TRAPPC11
2 muscular dystrophy 27.3 FKRP FKTN HNRNPDL POMT2 TRAPPC11
3 congenital muscular dystrophy without intellectual disability 10.2 FKRP FKTN
4 muscular dystrophy, congenital, 1b 10.1 FKRP FKTN
5 autosomal dominant limb-girdle muscular dystrophy type 1c 10.0 FKRP HNRNPDL
6 congenital muscular dystrophy with intellectual disability 10.0 FKRP POMT2
7 congenital muscular dystrophy with cerebellar involvement 10.0 FKRP POMT2
8 ablepharon-macrostomia syndrome 9.9 FKRP FKTN
9 muscular dystrophy, congenital, lmna-related 9.8 FKRP FKTN
10 autosomal dominant limb-girdle muscular dystrophy type 1g 9.7 HNRNPDL TRAPPC11
11 muscular dystrophy-dystroglycanopathy 9.7 FKRP POMT2
12 muscular dystrophy-dystroglycanopathy , type c, 9 9.7 HNRNPDL TRAPPC11
13 muscular dystrophy, limb-girdle, type 2w 9.7 HNRNPDL TRAPPC11
14 muscular dystrophy, limb-girdle, type 2q 9.7 HNRNPDL TRAPPC11
15 muscle tissue disease 9.7 FKRP FKTN
16 muscular dystrophy, limb-girdle, type 2r 9.6 HNRNPDL TRAPPC11
17 muscular dystrophy-dystroglycanopathy , type c, 14 9.6 HNRNPDL TRAPPC11
18 muscular dystrophy-dystroglycanopathy , type c, 7 9.6 HNRNPDL TRAPPC11
19 muscular dystrophy, limb-girdle, type 1f 9.6 HNRNPDL TRAPPC11
20 muscular dystrophy-dystroglycanopathy , type c, 3 9.6 HNRNPDL TRAPPC11
21 autosomal recessive limb-girdle muscular dystrophy type 2e 9.5 HNRNPDL TRAPPC11
22 muscular dystrophy-dystroglycanopathy , type a, 1 9.5 FKRP FKTN POMT2
23 muscular dystrophy-dystroglycanopathy , type b, 6 9.5 FKRP FKTN POMT2
24 muscular dystrophy-dystroglycanopathy , type a, 4 9.5 FKRP FKTN POMT2
25 muscular dystrophy-dystroglycanopathy , type b, 5 9.5 FKRP FKTN POMT2
26 muscle eye brain disease 9.5 FKRP FKTN POMT2
27 walker-warburg syndrome 9.4 FKRP FKTN POMT2
28 lissencephaly 9.4 FKRP FKTN
29 muscular dystrophy, limb-girdle, type 1e 9.2 FKRP HNRNPDL TRAPPC11
30 muscular dystrophy-dystroglycanopathy , type c, 1 9.1 HNRNPDL POMT2 TRAPPC11
31 muscular dystrophy-dystroglycanopathy , type c, 2 9.1 HNRNPDL POMT2 TRAPPC11
32 muscular dystrophy, limb-girdle, type 2l 8.5 FKRP FKTN POMT2 TRAPPC11

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 4

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Symptoms via clinical synopsis from OMIM:

57
Chest External Features:
pectus excavatum

Muscle Soft Tissue:
muscular dystrophy
proximal muscle weakness
gowers sign
hypotonia
delayed motor development
more
Laboratory Abnormalities:
increased serum creatine kinase

Skeletal Feet:
pes equinovarus (1 patient)

Neurologic Peripheral Nervous System:
hyporeflexia

Skeletal Spine:
lordosis

Skeletal:
contractures

Neurologic Central Nervous System:
no central nervous system abnormalities


Clinical features from OMIM:

611588

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 HP:0000767
2 muscular hypotonia 32 HP:0001252
3 hyporeflexia 32 HP:0001265
4 motor delay 32 HP:0001270
5 generalized hypotonia 32 HP:0001290
6 flexion contracture 32 HP:0001371
7 talipes equinovarus 32 occasional (7.5%) HP:0001762
8 elevated serum creatine phosphokinase 32 HP:0003236
9 hyperlordosis 32 HP:0003307
10 gowers sign 32 HP:0003391
11 muscular dystrophy 32 HP:0003560
12 skeletal muscle hypertrophy 32 HP:0003712

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C4 29 FKTN

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

41
Brain, Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

# Title Authors Year
1
Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset. ( 28785732 )
2017

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

75
# Symbol AA change Variation ID SNP ID
1 FKTN p.Arg307Gln VAR_039288 rs119463992
2 FKTN p.Ala114Thr VAR_065050 rs119463995
3 FKTN p.Phe176Ser VAR_065052 rs119463996

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKTN NM_001079802.1(FKTN): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs119463990 GRCh37 Chromosome 9, 108358912: 108358912
2 FKTN NM_001079802.1(FKTN): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs119463990 GRCh38 Chromosome 9, 105596631: 105596631
3 FKTN NM_001079802.1(FKTN): c.1167dupA (p.Phe390Ilefs) duplication Pathogenic rs398123555 GRCh38 Chromosome 9, 105620056: 105620056
4 FKTN NM_001079802.1(FKTN): c.1167dupA (p.Phe390Ilefs) duplication Pathogenic rs398123555 GRCh37 Chromosome 9, 108382337: 108382337
5 FKTN NM_001079802.1(FKTN): c.527T> C (p.Phe176Ser) single nucleotide variant Pathogenic rs119463996 GRCh37 Chromosome 9, 108366653: 108366653
6 FKTN NM_001079802.1(FKTN): c.527T> C (p.Phe176Ser) single nucleotide variant Pathogenic rs119463996 GRCh38 Chromosome 9, 105604372: 105604372
7 FKTN NM_006731.2(FKTN): c.1363delG (p.Asp455Metfs) deletion Pathogenic rs587777814 GRCh37 Chromosome 9, 108397522: 108397522
8 FKTN NM_006731.2(FKTN): c.1363delG (p.Asp455Metfs) deletion Pathogenic rs587777814 GRCh38 Chromosome 9, 105635241: 105635241
9 FKTN NM_001079802.1(FKTN): c.920G> A (p.Arg307Gln) single nucleotide variant Pathogenic rs119463992 GRCh37 Chromosome 9, 108380249: 108380249
10 FKTN NM_001079802.1(FKTN): c.920G> A (p.Arg307Gln) single nucleotide variant Pathogenic rs119463992 GRCh38 Chromosome 9, 105617968: 105617968
11 FKTN NM_001079802.1(FKTN): c.340G> A (p.Ala114Thr) single nucleotide variant Pathogenic rs119463995 GRCh37 Chromosome 9, 108363600: 108363600
12 FKTN NM_001079802.1(FKTN): c.340G> A (p.Ala114Thr) single nucleotide variant Pathogenic rs119463995 GRCh38 Chromosome 9, 105601319: 105601319
13 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh37 Chromosome 9, 108366768: 108366768
14 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh38 Chromosome 9, 105604487: 105604487
15 FKTN NM_006731.2(FKTN): c.411C> A (p.Cys137Ter) single nucleotide variant Pathogenic/Likely pathogenic rs537001725 GRCh37 Chromosome 9, 108366537: 108366537
16 FKTN NM_006731.2(FKTN): c.411C> A (p.Cys137Ter) single nucleotide variant Pathogenic/Likely pathogenic rs537001725 GRCh38 Chromosome 9, 105604256: 105604256
17 FKTN NM_001079802.1(FKTN): c.*4375_*4376ins3062 insertion Pathogenic GRCh37 Chromosome 9, 108401920: 108401921
18 FKTN NM_001079802.1(FKTN): c.*4375_*4376ins3062 insertion Pathogenic GRCh38 Chromosome 9, 105639639: 105639640
19 FKTN NM_001079802.1(FKTN): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs746763506 GRCh38 Chromosome 9, 105604452: 105604452
20 FKTN NM_001079802.1(FKTN): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs746763506 GRCh37 Chromosome 9, 108366733: 108366733
21 FKTN NM_001079802.1(FKTN): c.330dupT (p.Thr111Tyrfs) duplication Pathogenic/Likely pathogenic rs886042245 GRCh37 Chromosome 9, 108363590: 108363590
22 FKTN NM_001079802.1(FKTN): c.330dupT (p.Thr111Tyrfs) duplication Pathogenic/Likely pathogenic rs886042245 GRCh38 Chromosome 9, 105601309: 105601309
23 FKTN NM_001079802.1(FKTN): c.456_457delAC (p.Ser154Trpfs) deletion Pathogenic rs886042664 GRCh37 Chromosome 9, 108366582: 108366583
24 FKTN NM_001079802.1(FKTN): c.456_457delAC (p.Ser154Trpfs) deletion Pathogenic rs886042664 GRCh38 Chromosome 9, 105604301: 105604302
25 FKTN NM_006731.2(FKTN): c.1317_1318dupTC (p.Pro440Leufs) duplication Conflicting interpretations of pathogenicity rs886042778 GRCh37 Chromosome 9, 108397476: 108397477
26 FKTN NM_006731.2(FKTN): c.1317_1318dupTC (p.Pro440Leufs) duplication Conflicting interpretations of pathogenicity rs886042778 GRCh38 Chromosome 9, 105635195: 105635196

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 4.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.16 FKRP FKTN POMT2

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.13 FKRP FKTN POMT2
2 protein O-linked mannosylation GO:0035269 8.8 FKRP FKTN POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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