MDDGB5
MCID: MSC035
MIFTS: 44

Muscular Dystrophy-Dystroglycanopathy , Type B, 5 (MDDGB5) malady

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

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

Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 5 54 12 13
Mdc1c 12 66 52
Muscular Dystrophy-Dystroglycanopathy Congenital with or Without Mental Retardation B5 66 29
Muscular Dystrophy-Dystroglycanopathy Type B5 12 14
Mddgb5 12 66
Fkrp-Related Congenital Muscular Dystrophy 12
Muscular Dystrophy Congenital Type 1c 66
Muscular Dystrophy, Congenital, 1c 69
Congenital Muscular Dystrophy 1c 12
Muscular Dystrophy Fkrp-Related 66

Characteristics:

HPO:

32
muscular dystrophy-dystroglycanopathy , type b, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:



External Ids:

OMIM 54 606612
Disease Ontology 12 DOID:0110635
ICD10 33 G71.2
MeSH 42 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

OMIM : 54 MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain... (606612) more...

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 5, also known as mdc1c, is related to muscular dystrophy-dystroglycanopathy , type b, 1 and fkrp-related muscle diseases, 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 Metabolism of proteins and Degradation of the extracellular matrix. 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 : 66 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, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type C, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type b, 1 10.8
2 fkrp-related muscle diseases 10.8
3 intrauterine growth retardation - mandibular malar hypoplasia 10.3 FKRP FKTN
4 systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood 10.2 FKRP FKTN POMT1
5 muscular dystrophy-dystroglycanopathy , type c, 1 10.2 FKRP FKTN POMT1
6 epileptic encephalopathy, early infantile, 4 10.2 POMT1 POMT2
7 dementia, frontotemporal 10.2 POMT1 POMT2
8 nephronophthisis 2, infantile 10.2 FKRP FKTN POMT2
9 alk-positive large b-cell lymphoma 10.2 FKRP POMT1 POMT2
10 charcot-marie-tooth disease, type 2b2 10.2 FKRP LAMA2 POMGNT2
11 rippling muscle disease 10.1 CAV3 FKRP
12 coronary artery disease 10.1 FKRP FKTN POMGNT1 POMT1
13 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.1 CAV3 FKRP
14 pancreatic agenesis 1 10.1 DAG1 DMD
15 deafness, autosomal recessive 18b 10.1 FKRP FKTN POMT1 POMT2
16 hydroa vacciniforme-like lymphoma 10.1 FKRP POMGNT1 POMT1 POMT2
17 thrombocytopenia, x-linked 10.1 DMD FKRP LAMA2
18 asphyxiating thoracic dystrophy 10.1 FKRP POMGNT1 POMT1 POMT2
19 muscular dystrophy 10.1
20 short-rib thoracic dysplasia 8 with or without polydactyly 10.1 CAV3 FKRP
21 prosthetic joint infection 10.1 DMD FKRP POMT2
22 cardiomyopathy, familial restrictive, 3 10.0 DAG1 DMD LAMA2
23 cubitus valgus with mental retardation and unusual facies 10.0 DMD LAMA2
24 autosomal recessive limb-girdle muscular dystrophy type 2w 10.0 CAV3 FKRP
25 myopathy, spheroid body 10.0 CAV3 FKRP
26 autosomal recessive nonsyndromic deafness 47 10.0 DAG1 DMD FKTN LAMA2
27 limb-girdle muscular dystrophy 10.0
28 myopathy, distal, with anterior tibial onset 9.9 CAV3 DMD FKRP
29 sdhc-related paraganglioma and gastric stromal sarcoma 9.9 DAG1 DMD
30 gabrg2-related generalized epilepsy with febrile seizures plus 9.9 FKRP FKTN LAMA2 POMGNT1 POMGNT2 POMT1
31 cardiomyopathy, dilated, 1aa, with or without lvnc 9.9 DAG1 DMD FKRP FKTN LAMA2
32 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 CAV3 DMD FKRP POMT1
33 immunodeficiency 34, mycobacteriosis, x-linked 9.8 CAV3 DAG1 DMD
34 mandibuloacral dysplasia 9.8 CAV3 LMNA
35 ullrich congenital muscular dystrophy 1 9.8 DMD LAMA2 LMNA
36 parametrium malignant neoplasm 9.8 DMD LAMA2 LMNA
37 lipodystrophy, familial partial, 2 9.8 DAG1 DMD LAMA2 LMNA
38 cardiomyopathy, dilated, 1x 9.7 DAG1 DMD FKTN LAMA2 POMGNT1 POMGNT2
39 cerebral angioma 9.7 CAV3 DAG1 DMD FKRP FKTN LAMA2
40 emery-dreifuss muscular dystrophy, dominant type 9.5 DAG1 DMD FKRP FKTN LAMA2 LMNA
41 cone-rod dystrophy, prph2-related 9.5 DAG1 DMD FKRP FKTN POMGNT1 POMGNT2
42 sudden infant death with dysgenesis of the testes syndrome 9.5 AGRN DAG1 DMD FKTN LAMA2 LMNA
43 myasthenia gravis, limb-girdle 9.4 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
44 cdkl5-related angelman-like syndrome 9.4 CAV3 DAG1 DMD FKTN LAMA2 LMNA
45 dermatofibrosarcoma protuberans 9.2 AGRN DAG1 DMD FKRP FKTN LAMA2
46 autosomal dominant nonsyndromic deafness 9.1 AGRN DAG1 DMD FKRP FKTN LAMA2
47 central corneal ulcer 9.0 CAV3 DAG1 DMD FKRP FKTN LAMA2
48 muscular dystrophy, limb-girdle, type 1b 9.0 DAG1 DMD FKRP FKTN LAMA2 LMNA
49 glycogen storage disease 0, muscle 8.2 AGRN CANX CAV3 DAG1 DMD FKRP

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 by clinical synopsis from OMIM:

606612

Clinical features from OMIM:

606612

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

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

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


muscle cramp, myalgia, facial paresis, generalized muscle weakness

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

44
id 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 CAV3 DAG1 DMD FKRP FKTN GLG1
3 behavior/neurological MP:0005386 10.11 AGRN CANX DAG1 DMD FKRP FKTN
4 homeostasis/metabolism MP:0005376 10.06 POMGNT1 POMGNT2 AGRN CAV3 DAG1 DMD
5 cardiovascular system MP:0005385 10.03 AGRN CAV3 DAG1 DMD GLG1 LMNA
6 mortality/aging MP:0010768 9.97 AGRN CANX DAG1 DMD FKRP FKTN
7 immune system MP:0005387 9.91 CANX CAV3 DMD FKRP FKTN GLG1
8 muscle MP:0005369 9.65 POMT1 AGRN CAV3 DAG1 DMD FKRP
9 nervous system MP:0003631 9.36 DMD FKRP FKTN LAMA2 LMNA POMGNT1

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:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B5 29

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

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

39
Brain, Testes

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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

66 (show all 13)
id 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
id 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.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
6 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

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:

id Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.93 CAV3 FKRP FKTN GLG1 MGAT4C POMGNT1
2 endoplasmic reticulum GO:0005783 9.87 CANX CAV3 FKRP FKTN POMGNT2 POMT1
3 extracellular matrix GO:0031012 9.71 AGRN CANX 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 9.43 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 10.18 AGRN CANX CAV3 DAG1 DMD FKRP
10 integral component of membrane GO:0016021 10.03 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)
id 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 skeletal muscle tissue regeneration GO:0043403 9.55 DAG1 DMD
6 protein O-linked glycosylation GO:0006493 9.55 DAG1 POMGNT1 POMGNT2 POMT1 POMT2
7 muscle cell cellular homeostasis GO:0046716 9.54 CAV3 DMD
8 negative regulation of MAPK cascade GO:0043409 9.52 CAV3 DAG1
9 mannosylation GO:0097502 9.51 POMT1 POMT2
10 protein glycosylation GO:0006486 9.5 FKRP FKTN MGAT4C POMGNT1 POMGNT2 POMT1
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.49 DAG1 DMD
12 ER-associated misfolded protein catabolic process GO:0071712 9.48 POMT1 POMT2
13 Schwann cell differentiation GO:0014037 9.46 DAG1 LAMA2
14 nucleus localization GO:0051647 9.4 CAV3 DMD
15 positive regulation of protein O-linked glycosylation GO:1904100 9.37 POMT1 POMT2
16 regulation of skeletal muscle contraction GO:0014819 9.32 CAV3 DMD
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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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