MCID: MSC035
MIFTS: 42

Muscular Dystrophy-Dystroglycanopathy , Type B, 5 malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Cardiovascular diseases, Muscle diseases, Eye diseases, Fetal diseases categories
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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type B, 5, also known as congenital muscular dystrophy without intellectual disability, is related to muscular dystrophy and congenital muscular dystrophy, and has symptoms including An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5 is FKRP (fukutin related protein), and among its related pathways is Other types of O-glycan biosynthesis. The compounds Dolichyl phosphate D-mannose and dolichol phosphate have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are other and cardiovascular system.

Descriptions from OMIM:46 606612, 613151, 613155, 613156, 615351 608840, 613152 more

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

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 5 46
Congenital Muscular Dystrophy Without Intellectual Disability 48
Congenital Muscular Dystrophy with Intellectual Disability 48
Congenital Muscular Dystrophy with Cerebellar Involvement 48
Congenital Muscular Dystrophy Type 1c 48
Cmd Without Intellectual Disability 48
Muscular Dystrophy, Congenital, 1c 62
Cmd with Intellectual Disability 48
 
Cmd with Cerebellar Involvement 48
Cardiomyopathy, Dilated, 1c 62
Cmd-No Mr 48
Cmd-Crb 48
Cmd-Mr 48
Cmd1c 48
Mdc1c 48


Classifications:



External Ids:

ICD10 via Orphanet26 G71.2

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

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Diseases in the Muscular Dystrophy-Dystroglycanopathy , Type a, 1 family:

Muscular Dystrophy-Dystroglycanopathy 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, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 4
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
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/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.0POMT2
2congenital muscular dystrophy30.6LARGE
3limb-girdle muscular dystrophy30.5FKRP, FKTN
4dilated cardiomyopathy30.3LDB3, FKRP
5congenital disorder of glycosylation, type iu10.4
6cardiomyopathy, dilated 1c10.2
7cardiomyopathy, dilated, 1a10.0
8myopathy, myofibrillar, 410.0
9left ventricular noncompaction 3, with or without dilated cardiomyopathy10.0
10intellectual disability multi-gene panels9.8FKRP, FKTN, POMT1
11neuropathy9.7FKRP, FKTN, POMT1, POMGNT1
12mental retardation9.7POMGNT1, POMT1, FKTN, FKRP
13myopathy9.6LDB3, FKRP, FKTN, POMT1, POMGNT1
14lissencephaly9.5FKRP, FKTN, POMT1, POMT2, POMGNT1
15muscular dystrophy-dystroglycanopathy , type a, 49.5LARGE, POMGNT1, POMT1, FKTN
16muscular dystrophy-dystroglycanopathy , type a, 19.4LARGE, POMGNT1, POMT1, FKTN, FKRP
17walker-warburg syndrome9.0FKRP, FKTN, POMT1, POMT2, POMGNT1, LARGE

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



Diseases related to muscular dystrophy-dystroglycanopathy  , type b, 5

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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Symptoms by clinical synopsis from OMIM:

606612

Clinical features from OMIM:

606612,613151,613155,613156,615351,608840,613152

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

(show all 36)
id Description Frequency HPO Source Accession
1 pachygyria rare (5%) HP:0001302
2 ventriculomegaly rare (5%) HP:0002119
3 autosomal recessive inheritance HP:0000007
4 macroglossia HP:0000158
5 microcephaly HP:0000252
6 intellectual disability HP:0001249
7 cerebellar atrophy HP:0001272
8 neonatal hypotonia HP:0001319
9 achilles tendon contracture HP:0001771
10 restrictive respiratory insufficiency HP:0002111
11 delayed gross motor development HP:0002194
12 cerebellar cyst HP:0002350
13 difficulty walking HP:0002355
14 frequent falls HP:0002359
15 abnormality of the cerebral white matter HP:0002500
16 scoliosis HP:0002650
17 kyphosis HP:0002808
18 vertebral fusion HP:0002948
19 elevated serum creatine phosphokinase HP:0003236
20 hyperlordosis HP:0003307
21 generalized muscle weakness HP:0003324
22 myalgia HP:0003326
23 muscle cramps HP:0003394
24 emg HP:0003458
25 shoulder girdle muscle weakness HP:0003547
26 difficulty climbing stairs HP:0003551
27 congenital onset HP:0003577
28 proximal muscle weakness HP:0003701
29 shoulder girdle muscle atrophy HP:0003724
30 thigh hypertrophy HP:0003733
31 congenital muscular dystrophy HP:0003741
32 variable expressivity HP:0003828
33 proximal amyotrophy HP:0007126
34 feeding difficulties in infancy HP:0008872
35 calf muscle hypertrophy HP:0008981
36 facial palsy HP:0010628

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

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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

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

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

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

32
Brain

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type B, 5 or affiliated genes

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.5ISPD, POMGNT1, POMT2, FKTN
2MP:00053858.2LDB3, POMT1, POMGNT1, LARGE
3MP:00053848.0ISPD, POMGNT1, POMT2, FKTN, FKRP
4MP:00053868.0LARGE, POMGNT1, FKTN, FKRP, LDB3
5MP:00053697.7LDB3, LARGE, POMGNT1, POMT1, FKTN, FKRP
6MP:00053767.7LARGE, POMGNT1, FKTN, FKRP, LDB3
7MP:00053787.5LARGE, POMGNT1, POMT2, FKTN, FKRP, LDB3
8MP:00036317.4ISPD, LARGE, POMGNT1, POMT2, FKTN, FKRP
9MP:00107686.6ISPD, LARGE, POMGNT1, POMT2, POMT1, FKTN

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:

64 (show all 13)
id Symbol AA change Variation ID SNP ID
1FKRPp.Pro217ThrVAR_018283
2FKRPp.Ser221ArgVAR_018284rs28937902
3FKRPp.Tyr309CysVAR_018286
4FKRPp.Pro315ThrVAR_018288
5FKRPp.Pro316ArgVAR_018289
6FKRPp.Tyr328SerVAR_018290
7FKRPp.Arg339HisVAR_018292
8FKRPp.Asp401AsnVAR_018293
9FKRPp.Pro448LeuVAR_018294
10FKRPp.Tyr465SerVAR_018295
11FKRPp.Val405LeuVAR_022854rs28937904
12FKRPp.Ala455AspVAR_022855rs28937903
13FKRPp.Asn463AspVAR_065063

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

6
id Gene Name Type Significance SNP ID Assembly Location
1LDB3NM_007078.2(LDB3): c.1035C> G (p.Ile345Met)single nucleotide variantPathogenicrs121908336GRCh37Chr 10, 88466426: 88466426
2LDB3NM_001080116.1(LDB3): c.383A> T (p.Lys128Met)single nucleotide variantPathogenicrs121908339GRCh37Chr 10, 88446864: 88446864

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

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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type B, 5

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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Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.9POMT1, POMT2, POMGNT1

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

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Sources:
24HMDB, 28IUPHAR, 44Novoseek
See all sources

Compounds related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Dolichyl phosphate D-mannose249.4POMT1, POMT2
2dolichol phosphate28 2410.2POMT1, POMT2
3manganese44 249.9POMT1, POMT2, POMGNT1

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi membraneGO:0001398.8FKRP, FKTN, POMGNT1
2integral component of membraneGO:0160218.1FKRP, FKTN, POMT1, POMT2, POMGNT1

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein O-linked glycosylationGO:0064939.4POMT1, POMGNT1
2glycoprotein biosynthetic processGO:0091019.0FKRP, LARGE

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:0167409.7FKRP, FKTN
2dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:0041699.2POMT1, POMT2

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet