MCID: MSC035
MIFTS: 52

Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 5 53 12 13
Mdc1c 53 12 71 51
Mddgb5 53 12 71
Muscular Dystrophy-Dystroglycanopathy Type B5 12 14
Muscular Dystrophy, Congenital, 1c 53 69
Muscular Dystrophy-Dystroglycanopathy Congenital with or Without Mental Retardation B5 71
Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B5 28
Muscular Dystrophy, Congenital, Fkrp-Related 53
Fkrp-Related Congenital Muscular Dystrophy 12
Muscular Dystrophy, Congenital, 1c; Mdc1c 53
Muscular Dystrophy Congenital Type 1c 71
Congenital Muscular Dystrophy Type 1c 36
Congenital Muscular Dystrophy 1c 12
Muscular Dystrophy Fkrp-Related 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
variable age of onset (range 1-40 years)
some patients never gain ambulation or become wheelchair-bound


HPO:

31
muscular dystrophy-dystroglycanopathy , type b, 5:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

OMIM : 53 MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). 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., 2006). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). (606612)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 5, also known as mdc1c, is related to muscular dystrophy-dystroglycanopathy , type c, 5 and limb-girdle muscular dystrophy, and has symptoms including myalgia, generalized muscle weakness and intellectual disability. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5 is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Metabolism of proteins. Affiliated tissues include brain and testes, and related phenotypes are growth/size/body region and cellular

Disease Ontology : 12 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.

UniProtKB/Swiss-Prot : 71 Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5: A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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 B, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 5 30.4 FKRP LAMA2 POMGNT2
2 limb-girdle muscular dystrophy 28.7 CAV3 DMD FKRP FKTN LMNA
3 muscular dystrophy, congenital, lmna-related 28.3 DAG1 FKRP FKTN LAMA2 LMNA POMGNT1
4 muscular dystrophy 26.9 CAV3 DAG1 DMD FKRP FKTN LAMA2
5 muscular dystrophy-dystroglycanopathy , type a, 5 11.4
6 fukuyama type muscular dystrophy 10.5 FKRP FKTN
7 congenital muscular dystrophy without intellectual disability 10.3 FKRP FKTN POMT1
8 muscular dystrophy-dystroglycanopathy , type c, 1 10.3 POMT1 POMT2
9 muscular dystrophy-dystroglycanopathy , type c, 2 10.3 POMT1 POMT2
10 congenital nervous system abnormality 10.3 FKTN POMGNT1 POMT1
11 congenital muscular dystrophy with intellectual disability 10.2 FKRP POMT1 POMT2
12 muscular dystrophy, limb-girdle, type 1c 10.2 CAV3 FKRP
13 autosomal dominant limb-girdle muscular dystrophy type 1c 10.2 CAV3 FKRP
14 muscular dystrophy-dystroglycanopathy , type c, 4 10.2 FKRP FKTN POMT2
15 lissencephaly 10.2 DAG1 FKRP FKTN
16 muscular dystrophy, limb-girdle, type 1e 10.1 CAV3 FKRP
17 ablepharon-macrostomia syndrome 10.1 FKRP FKTN POMGNT1 POMT1
18 muscular dystrophy, limb-girdle, type 1a 10.1 CAV3 FKRP
19 muscular dystrophy, limb-girdle, type 2c 10.1 DAG1 DMD
20 muscular dystrophy, limb-girdle, type 2f 10.1 DMD FKRP
21 muscular dystrophy, limb-girdle, type 2l 10.1 FKRP FKTN POMT1 POMT2
22 congenital muscular dystrophy with cerebellar involvement 10.1 FKRP POMGNT1 POMT1 POMT2
23 muscular dystrophy-dystroglycanopathy 10.0 FKRP POMGNT1 POMT1 POMT2
24 creatine phosphokinase, elevated serum 10.0 CAV3 DMD
25 cardiomyopathy, dilated, 1d 10.0 DAG1 DMD LAMA2
26 myopathy, x-linked, with excessive autophagy 10.0 DMD LAMA2
27 isolated hyperckemia 9.9 CAV3 DMD FKRP
28 muscular dystrophy-dystroglycanopathy , type a, 1 9.9 FKRP FKTN POMGNT1 POMT1 POMT2
29 muscular dystrophy, limb-girdle, type 2b 9.9 CAV3 DMD FKRP
30 cardiomyopathy, dilated, 1b 9.9 DAG1 DMD FKTN LAMA2
31 muscular dystrophy, becker type 9.9 DAG1 DMD FKTN LAMA2
32 autosomal recessive limb-girdle muscular dystrophy 9.7 CAV3 DMD FKRP POMT1
33 muscular dystrophy, limb-girdle, type 1b 9.7 CAV3 LMNA
34 muscular dystrophy, congenital, 1b 9.7 DAG1 DMD FKRP FKTN LAMA2
35 distal muscular dystrophy 9.6 CAV3 DMD
36 autosomal dominant limb-girdle muscular dystrophy 9.5 CAV3 LMNA
37 muscular dystrophy, duchenne type 9.5 CAV3 DAG1 DMD FKTN LAMA2
38 cardiomyopathy, dilated, 1a 9.4 DAG1 DMD LAMA2 LMNA
39 muscular dystrophy, limb-girdle, type 2a 9.3 CAV3 DMD FKRP LMNA
40 dilated cardiomyopathy 9.0 DAG1 DMD FKRP FKTN LAMA2 LMNA
41 myopathy 9.0 CAV3 DMD FKRP LAMA2 LMNA
42 muscular dystrophy, congenital merosin-deficient, 1a 8.9 AGRN DAG1 DMD FKTN LAMA2 LMNA
43 muscular dystrophy-dystroglycanopathy , type a, 4 8.8 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
44 muscle eye brain disease 8.8 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
45 muscle tissue disease 8.7 CAV3 DAG1 DMD FKRP FKTN LAMA2
46 muscular dystrophy-dystroglycanopathy , type b, 6 8.4 AGRN DAG1 DMD FKRP FKTN LAMA2
47 walker-warburg syndrome 8.2 AGRN DAG1 DMD FKRP FKTN LAMA2

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type B, 5

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Symptoms via clinical synopsis from OMIM:

53
MuscleSoftTissue:
myalgia
generalized muscle weakness
neonatal hypotonia
muscle cramps
difficulty walking
more
AbdomenGastrointestinal:
feeding difficulties

HeadAndNeckHead:
microcephaly (less common)

SkeletalFeet:
achilles tendon contractures

SkeletalSpine:
scoliosis
kyphosis
lordosis
spinal fusion

NeurologicCentralNervousSystem:
cerebellar atrophy
mental retardation
cerebellar cysts
pachygyria (rare)
some patients have neurologic involvement
more
LaboratoryAbnormalities:
increased serum creatine kinase

HeadAndNeckFace:
facial weakness


Clinical features from OMIM:

606612

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 myalgia 31 HP:0003326
2 generalized muscle weakness 31 HP:0003324
3 intellectual disability 31 HP:0001249
4 scoliosis 31 HP:0002650
5 kyphosis 31 HP:0002808
6 hyperlordosis 31 HP:0003307
7 facial palsy 31 HP:0010628
8 macroglossia 31 HP:0000158
9 microcephaly 31 HP:0000252
10 neonatal hypotonia 31 HP:0001319
11 feeding difficulties in infancy 31 HP:0008872
12 elevated serum creatine phosphokinase 31 HP:0003236
13 ventriculomegaly 31 occasional (7.5%) HP:0002119
14 muscle cramps 31 HP:0003394
15 difficulty walking 31 HP:0002355
16 vertebral fusion 31 HP:0002948
17 pachygyria 31 occasional (7.5%) HP:0001302
18 cerebellar atrophy 31 HP:0001272
19 congenital muscular dystrophy 31 HP:0003741
20 delayed gross motor development 31 HP:0002194
21 proximal amyotrophy 31 HP:0007126
22 proximal muscle weakness 31 HP:0003701
23 restrictive deficit on pulmonary function testing 31 HP:0002111
24 difficulty climbing stairs 31 HP:0003551
25 calf muscle hypertrophy 31 HP:0008981
26 toe walking 31 HP:0040083
27 abnormality of the cerebral white matter 31 HP:0002500
28 shoulder girdle muscle weakness 31 HP:0003547
29 achilles tendon contracture 31 HP:0001771
30 cerebellar cyst 31 HP:0002350
31 shoulder girdle muscle atrophy 31 HP:0003724
32 frequent falls 31 HP:0002359
33 thigh hypertrophy 31 HP:0003733
34 emg 31 HP:0003458

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:


generalized muscle weakness, facial paresis, myalgia, muscle cramp

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 AGRN CANX DAG1 DMD FKRP FKTN
2 cellular MP:0005384 10.14 DMD FKRP FKTN GLG1 LAMA2 LMNA
3 behavior/neurological MP:0005386 10.11 AGRN CANX DAG1 DMD FKRP FKTN
4 cardiovascular system MP:0005385 10.09 AGRN CAV3 DAG1 DMD FKRP GLG1
5 homeostasis/metabolism MP:0005376 10.06 POMGNT2 AGRN CAV3 DAG1 DMD FKRP
6 mortality/aging MP:0010768 9.97 POMGNT2 POMT1 POMT2 AGRN CANX DAG1
7 immune system MP:0005387 9.91 CANX CAV3 DMD FKRP FKTN GLG1
8 muscle MP:0005369 9.65 AGRN CAV3 DAG1 DMD FKRP FKTN
9 nervous system MP:0003631 9.36 AGRN CANX DAG1 DMD FKRP FKTN

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B5 28

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

38
Brain, Testes

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

# Title Authors Year
1
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. ( 16288869 )
2005
2
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. ( 14742276 )
2004
3
The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I. ( 11801394 )
2002
4
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. ( 11741828 )
2001

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

71 (show all 13)
# Symbol AA change Variation ID SNP ID
1 FKRP p.Pro217Thr VAR_018283
2 FKRP p.Ser221Arg VAR_018284 rs28937902
3 FKRP p.Tyr309Cys VAR_018286 rs104894679
4 FKRP p.Pro315Thr VAR_018288
5 FKRP p.Pro316Arg VAR_018289 rs752582904
6 FKRP p.Tyr328Ser VAR_018290
7 FKRP p.Arg339His VAR_018292
8 FKRP p.Asp401Asn VAR_018293
9 FKRP p.Pro448Leu VAR_018294 rs104894681
10 FKRP p.Tyr465Ser VAR_018295
11 FKRP p.Val405Leu VAR_022854 rs28937904
12 FKRP p.Ala455Asp VAR_022855 rs28937903
13 FKRP p.Asn463Asp VAR_065063 rs121908110

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.926A> G (p.Tyr309Cys) single nucleotide variant Pathogenic rs104894679 GRCh37 Chromosome 19, 47259633: 47259633
2 FKRP NM_024301.4(FKRP): c.1154C> A (p.Ser385Ter) single nucleotide variant Pathogenic rs104894680 GRCh37 Chromosome 19, 47259861: 47259861
3 FKRP NM_024301.4(FKRP): c.1343C> T (p.Pro448Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894681 GRCh37 Chromosome 19, 47260050: 47260050
4 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
5 FKRP NM_024301.4(FKRP): c.162_165dupGGAG (p.Phe56Glyfs) duplication Pathogenic rs886042506 GRCh37 Chromosome 19, 47258869: 47258872

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 5.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to KEGG:

36
# Name Kegg Source Accession
1 Mannose type O-glycan biosynthesis hsa00515

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.95 CANX CAV3 FKRP FKTN POMGNT2 POMT1
2 Golgi apparatus GO:0005794 9.87 CAV3 DMD FKRP FKTN GLG1 MGAT4C
3 extracellular matrix GO:0031012 9.65 AGRN CANX DAG1 LAMA2 LMNA
4 Golgi membrane GO:0000139 9.63 CAV3 FKRP FKTN GLG1 MGAT4C POMGNT1
5 costamere GO:0043034 9.48 DAG1 DMD
6 basal lamina GO:0005605 9.46 AGRN LAMA2
7 sarcolemma GO:0042383 9.35 CAV3 DAG1 DMD FKRP LAMA2
8 dystrophin-associated glycoprotein complex GO:0016010 8.92 CAV3 DAG1 DMD FKRP
9 membrane GO:0016020 10.25 AGRN CANX CAV3 DAG1 DMD FKRP
10 integral component of membrane GO:0016021 10.15 AGRN CANX CAV3 DAG1 FKRP FKTN

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.73 CANX DAG1 DMD
2 extracellular matrix organization GO:0030198 9.73 AGRN DAG1 LAMA2 POMT1
3 regulation of heart rate GO:0002027 9.57 CAV3 DMD
4 muscle organ development GO:0007517 9.56 CAV3 DMD FKTN LAMA2
5 negative regulation of MAPK cascade GO:0043409 9.55 CAV3 DAG1
6 protein O-linked glycosylation GO:0006493 9.55 DAG1 POMGNT1 POMGNT2 POMT1 POMT2
7 skeletal muscle tissue regeneration GO:0043403 9.54 DAG1 DMD
8 muscle cell cellular homeostasis GO:0046716 9.52 CAV3 DMD
9 mannosylation GO:0097502 9.51 POMT1 POMT2
10 protein glycosylation GO:0006486 9.5 FKRP FKTN MGAT4C POMGNT1 POMGNT2 POMT1
11 ER-associated misfolded protein catabolic process GO:0071712 9.49 POMT1 POMT2
12 response to denervation involved in regulation of muscle adaptation GO:0014894 9.48 DAG1 DMD
13 Schwann cell differentiation GO:0014037 9.46 DAG1 LAMA2
14 nucleus localization GO:0051647 9.4 CAV3 DMD
15 regulation of skeletal muscle contraction GO:0014819 9.37 CAV3 DMD
16 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT1 POMT2
17 protein O-linked mannosylation GO:0035269 9.02 FKRP FKTN POMGNT2 POMT1 POMT2

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.91 FKRP FKTN MGAT4C POMGNT1 POMGNT2 POMT1
2 laminin binding GO:0043236 9.43 AGRN DAG1
3 acetylglucosaminyltransferase activity GO:0008375 9.4 POMGNT1 POMGNT2
4 transferase activity, transferring glycosyl groups GO:0016757 9.35 MGAT4C POMGNT1 POMGNT2 POMT1 POMT2
5 nitric-oxide synthase binding GO:0050998 9.32 CAV3 DMD
6 vinculin binding GO:0017166 9.26 DAG1 DMD
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT1 POMT2
8 dystroglycan binding GO:0002162 8.8 AGRN DAG1 DMD

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
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68 Tocris
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70 UMLS via Orphanet
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