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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 5 52 11 12
Mdc1c 11 70 50
Muscular Dystrophy-Dystroglycanopathy Congenital with or Without Mental Retardation B5 70 27
Muscular Dystrophy-Dystroglycanopathy Type B5 11 13
Mddgb5 11 70
 
Fkrp-Related Congenital Muscular Dystrophy 11
Muscular Dystrophy Congenital Type 1c 70
Muscular Dystrophy, Congenital, 1c 68
Congenital Muscular Dystrophy 1c 11
Muscular Dystrophy Fkrp-Related 70

Characteristics:

HPO:

64
muscular dystrophy-dystroglycanopathy , type b, 5:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset, variable expressivity

Classifications:



External Ids:

OMIM52 606612
Disease Ontology11 DOID:0110635
ICD1030 G71.2
MeSH39 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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OMIM:52 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 muscle cramp, myalgia and facial paresis. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5 is FKRP (Fukutin Related Protein), and among its related pathways are Other types of O-glycan biosynthesis and ECM-receptor interaction. Affiliated tissues include brain and testes, and related mouse phenotypes are cardiovascular system and behavior/neurological.

Disease Ontology:11 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:70 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

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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)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type b, 110.8
2fkrp-related muscle diseases10.8
3intrauterine growth retardation - mandibular malar hypoplasia10.3FKRP, FKTN
4systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood10.2FKRP, FKTN, POMT1
5muscular dystrophy-dystroglycanopathy , type c, 110.2FKRP, FKTN, POMT1
6epileptic encephalopathy, early infantile, 410.2POMT1, POMT2
7dementia, frontotemporal10.2POMT1, POMT2
8nephronophthisis 2, infantile10.2FKRP, FKTN, POMT2
9alk-positive large b-cell lymphoma10.2FKRP, POMT1, POMT2
10charcot-marie-tooth disease, type 2b210.2FKRP, LAMA2, POMGNT2
11rippling muscle disease10.1CAV3, FKRP
12coronary artery disease10.1FKRP, FKTN, POMGNT1, POMT1
13osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures10.1CAV3, FKRP
14pancreatic agenesis 110.1DAG1, DMD
15deafness, autosomal recessive 18b10.1FKRP, FKTN, POMT1, POMT2
16hydroa vacciniforme-like lymphoma10.1FKRP, POMGNT1, POMT1, POMT2
17thrombocytopenia, x-linked10.1DMD, FKRP, LAMA2
18asphyxiating thoracic dystrophy10.1FKRP, POMGNT1, POMT1, POMT2
19muscular dystrophy10.1
20short-rib thoracic dysplasia 8 with or without polydactyly10.1CAV3, FKRP
21prosthetic joint infection10.1DMD, FKRP, POMT2
22cardiomyopathy, familial restrictive, 310.0DAG1, DMD, LAMA2
23cubitus valgus with mental retardation and unusual facies10.0DMD, LAMA2
24autosomal recessive limb-girdle muscular dystrophy type 2w10.0CAV3, FKRP
25myopathy, spheroid body10.0CAV3, FKRP
26autosomal recessive nonsyndromic deafness 4710.0DAG1, DMD, FKTN, LAMA2
27limb-girdle muscular dystrophy10.0
28myopathy, distal, with anterior tibial onset9.9CAV3, DMD, FKRP
29sdhc-related paraganglioma and gastric stromal sarcoma9.9DAG1, DMD
30gabrg2-related generalized epilepsy with febrile seizures plus9.9FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
31cardiomyopathy, dilated, 1aa, with or without lvnc9.9DAG1, DMD, FKRP, FKTN, LAMA2
32autosomal recessive limb-girdle muscular dystrophy type 2h9.9CAV3, DMD, FKRP, POMT1
33immunodeficiency 34, mycobacteriosis, x-linked9.8CAV3, DAG1, DMD
34mandibuloacral dysplasia9.8CAV3, LMNA
35ullrich congenital muscular dystrophy 19.8DMD, LAMA2, LMNA
36parametrium malignant neoplasm9.8DMD, LAMA2, LMNA
37lipodystrophy, familial partial, 29.8DAG1, DMD, LAMA2, LMNA
38cardiomyopathy, dilated, 1x9.7DAG1, DMD, FKTN, LAMA2, POMGNT1, POMGNT2
39cerebral angioma9.7CAV3, DAG1, DMD, FKRP, FKTN, LAMA2
40emery-dreifuss muscular dystrophy, dominant type9.5DAG1, DMD, FKRP, FKTN, LAMA2, LMNA
41cone-rod dystrophy, prph2-related9.5DAG1, DMD, FKRP, FKTN, POMGNT1, POMGNT2
42sudden infant death with dysgenesis of the testes syndrome9.5AGRN, DAG1, DMD, FKTN, LAMA2, LMNA
43myasthenia gravis, limb-girdle9.4DAG1, DMD, FKRP, FKTN, LAMA2, POMGNT1
44cdkl5-related angelman-like syndrome9.4CAV3, DAG1, DMD, FKTN, LAMA2, LMNA
45dermatofibrosarcoma protuberans9.2AGRN, DAG1, DMD, FKRP, FKTN, LAMA2
46autosomal dominant nonsyndromic deafness9.1AGRN, DAG1, DMD, FKRP, FKTN, LAMA2
47central corneal ulcer9.0CAV3, DAG1, DMD, FKRP, FKTN, LAMA2
48muscular dystrophy, limb-girdle, type 1b9.0DAG1, DMD, FKRP, FKTN, LAMA2, LMNA
49glycogen storage disease 0, muscle8.2AGRN, 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

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Symptoms by clinical synopsis from OMIM:

606612

Clinical features from OMIM:

606612

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

 64 (show all 34)
id Description HPO Frequency HPO Source Accession
1 macroglossia64 HP:0000158
2 microcephaly64 HP:0000252
3 intellectual disability64 HP:0001249
4 cerebellar atrophy64 HP:0001272
5 pachygyria64 HP:0001302
6 neonatal hypotonia64 HP:0001319
7 achilles tendon contracture64 HP:0001771
8 restrictive deficit on pulmonary function testing64 HP:0002111
9 ventriculomegaly64 HP:0002119
10 delayed gross motor development64 HP:0002194
11 cerebellar cyst64 HP:0002350
12 difficulty walking64 HP:0002355
13 frequent falls64 HP:0002359
14 abnormality of the cerebral white matter64 HP:0002500
15 scoliosis64 HP:0002650
16 kyphosis64 HP:0002808
17 vertebral fusion64 HP:0002948
18 elevated serum creatine phosphokinase64 HP:0003236
19 hyperlordosis64 HP:0003307
20 generalized muscle weakness64 HP:0003324
21 myalgia64 HP:0003326
22 muscle cramps64 HP:0003394
23 emg64 HP:0003458
24 shoulder girdle muscle weakness64 HP:0003547
25 difficulty climbing stairs64 HP:0003551
26 proximal muscle weakness64 HP:0003701
27 shoulder girdle muscle atrophy64 HP:0003724
28 thigh hypertrophy64 HP:0003733
29 congenital muscular dystrophy64 HP:0003741
30 proximal amyotrophy64 HP:0007126
31 feeding difficulties in infancy64 HP:0008872
32 calf muscle hypertrophy64 HP:0008981
33 facial palsy64 HP:0010628
34 toe walking64 HP:0040083

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 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.7AGRN, CAV3, DAG1, DMD, GLG1, LMNA
2MP:00053867.7AGRN, CANX, DAG1, DMD, FKRP, FKTN
3MP:00053877.5CANX, CAV3, DMD, FKRP, FKTN, GLG1
4MP:00053697.2AGRN, CAV3, DAG1, DMD, FKRP, FKTN
5MP:00053847.0CAV3, DAG1, DMD, FKRP, FKTN, GLG1
6MP:00053766.9AGRN, CAV3, DAG1, DMD, FKRP, FKTN
7MP:00053786.6AGRN, CANX, DAG1, DMD, FKRP, FKTN
8MP:00107686.3AGRN, CANX, DAG1, DMD, FKRP, FKTN
9MP:00036316.1AGRN, CANX, DAG1, DMD, FKRP, FKTN

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B527

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

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

36
Brain, Testes

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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

70 (show all 13)
id Symbol AA change Variation ID SNP ID
1FKRPp.Pro217ThrVAR_018283
2FKRPp.Ser221ArgVAR_018284rs28937902
3FKRPp.Tyr309CysVAR_018286rs104894679
4FKRPp.Pro315ThrVAR_018288
5FKRPp.Pro316ArgVAR_018289rs752582904
6FKRPp.Tyr328SerVAR_018290
7FKRPp.Arg339HisVAR_018292
8FKRPp.Asp401AsnVAR_018293
9FKRPp.Pro448LeuVAR_018294rs104894681
10FKRPp.Tyr465SerVAR_018295
11FKRPp.Val405LeuVAR_022854rs28937904
12FKRPp.Ala455AspVAR_022855rs28937903
13FKRPp.Asn463AspVAR_065063rs121908110

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1FKRPNM_ 024301.4(FKRP): c.826C> A (p.Leu276Ile)SNV, Phase unknownPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533
2FKRPNM_ 024301.4(FKRP): c.162_ 165dupGGAG (p.Phe56Glyfs)duplicationPathogenicrs886042506GRCh37Chr 19, 47258869: 47258872
3FKRPNM_ 024301.4(FKRP): c.1343C> T (p.Pro448Leu)SNVPathogenic/ Likely pathogenicrs104894681GRCh37Chr 19, 47260050: 47260050
4FKRPNM_ 024301.4(FKRP): c.1387A> G (p.Asn463Asp)SNVPathogenicrs121908110GRCh37Chr 19, 47260094: 47260094

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:000560510.6AGRN, LAMA2
2costamereGO:004303410.5DAG1, DMD
3dystrophin-associated glycoprotein complexGO:00160109.6CAV3, DAG1, DMD, FKRP
4extracellular matrixGO:00310129.2AGRN, CANX, LAMA2, LMNA
5Golgi apparatusGO:00057949.2CAV3, FKRP, FKTN, GLG1, MGAT4C, POMGNT1
6Golgi membraneGO:00001399.2CAV3, FKRP, FKTN, GLG1, MGAT4C, POMGNT1
7endoplasmic reticulumGO:00057838.8CANX, CAV3, FKRP, FKTN, POMGNT2, POMT1
8sarcolemmaGO:00423838.5CAV3, DAG1, DMD, FKRP, LAMA2
9integral component of membraneGO:00160216.9AGRN, CANX, CAV3, DAG1, FKRP, FKTN
10membraneGO:00160206.1AGRN, CANX, CAV3, DAG1, DMD, FKRP

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1ER-associated misfolded protein catabolic processGO:007171210.5POMT1, POMT2
2mannosylationGO:009750210.5POMT1, POMT2
3positive regulation of protein O-linked glycosylationGO:190410010.5POMT1, POMT2
4Schwann cell differentiationGO:001403710.2DAG1, LAMA2
5negative regulation of MAPK cascadeGO:004340910.2CAV3, DAG1
6response to denervation involved in regulation of muscle adaptationGO:001489410.0DAG1, DMD
7muscle cell cellular homeostasisGO:004671610.0CAV3, DMD
8nucleus localizationGO:00516479.9CAV3, DMD
9extracellular matrix organizationGO:00301989.8AGRN, DAG1, LAMA2, POMT1
10agingGO:00075689.8CANX, DAG1, DMD
11regulation of heart rateGO:00020279.8CAV3, DMD
12regulation of skeletal muscle contractionGO:00148199.8CAV3, DMD
13skeletal muscle tissue regenerationGO:00434039.6DAG1, DMD
14protein O-linked mannosylationGO:00352699.6FKRP, FKTN, POMGNT2, POMT1, POMT2
15protein O-linked glycosylationGO:00064939.5DAG1, POMGNT1, POMGNT2, POMT1, POMT2
16muscle organ developmentGO:00075179.4CAV3, DMD, FKTN, LAMA2
17protein glycosylationGO:00064868.9FKRP, FKTN, MGAT4C, POMGNT1, POMGNT2, POMT1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1acetylglucosaminyltransferase activityGO:000837510.7POMGNT1, POMGNT2
2dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:000416910.6POMT1, POMT2
3laminin bindingGO:004323610.4AGRN, DAG1
4nitric-oxide synthase bindingGO:005099810.1CAV3, DMD
5dystroglycan bindingGO:00021629.9AGRN, DAG1, DMD
6vinculin bindingGO:00171669.6DAG1, DMD
7transferase activity, transferring glycosyl groupsGO:00167579.1MGAT4C, POMGNT1, POMGNT2, POMT1, POMT2
8transferase activityGO:00167409.0FKRP, FKTN, MGAT4C, POMGNT1, POMGNT2, POMT1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
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46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet