MCID: MSC035
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type B, 5 malady

Categories: Genetic diseases, Neuronal diseases, Muscle 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 12
Muscular Dystrophy-Dystroglycanopathy Congenital with or Without Mental Retardation B5 70 27
Muscular Dystrophy Congenital Type 1c 70
Muscular Dystrophy, Congenital, 1c 68
 
Muscular Dystrophy Fkrp-Related 70
Mddgb5 70
Mdc1c 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
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 muscular dystrophy-dystroglycanopathy congenital with or without mental retardation b5, is related to fkrp-related muscle diseases and muscular dystrophy-dystroglycanopathy , type b, 1, and has symptoms including pachygyria, ventriculomegaly and macroglossia. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5 is FKRP (Fukutin Related Protein). Affiliated tissues include brain and testes.

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:

idRelated DiseaseScoreTop Affiliating Genes
1fkrp-related muscle diseases11.0
2muscular dystrophy-dystroglycanopathy , type b, 110.8
3muscular dystrophy10.1
4limb-girdle muscular dystrophy10.0

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 pachygyria64 rare (5%) HP:0001302
2 ventriculomegaly64 rare (5%) HP:0002119
3 macroglossia64 HP:0000158
4 microcephaly64 HP:0000252
5 intellectual disability64 HP:0001249
6 cerebellar atrophy64 HP:0001272
7 neonatal hypotonia64 HP:0001319
8 achilles tendon contracture64 HP:0001771
9 restrictive deficit on pulmonary function testing64 HP:0002111
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

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.162_165dupGGAG (p.Phe56Glyfs)duplicationPathogenicrs886042506GRCh37Chr 19, 47258869: 47258872
2FKRPNM_024301.4(FKRP): c.1343C> T (p.Pro448Leu)SNVLikely pathogenic, Pathogenicrs104894681GRCh37Chr 19, 47260050: 47260050
3FKRPNM_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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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
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet