MCID: MSC035
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type B, 5 malady

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Rare diseases, Metabolic diseases, Eye diseases, Fetal 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 49 11
Muscular Dystrophy-Dystroglycanopathy Congenital with or Without Mental Retardation B5 67 24
Muscular Dystrophy Congenital Type 1c 67
Muscular Dystrophy, Congenital, 1c 65
 
Muscular Dystrophy Fkrp-Related 67
Mddgb5 67
Mdc1c 67

Characteristics:

HPO:

61
muscular dystrophy-dystroglycanopathy , type b, 5:
Onset and clinical course: variable expressivity, congenital onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 606612
MeSH36 D009136
UMLS65 C1847759

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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OMIM:49 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 gestational diabetes, and has symptoms including ventriculomegaly, pachygyria and toe walking. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5 is FKRP (Fukutin Related Protein). Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot:67 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 diseases11.5
2gestational diabetes10.4
3macrocytic anemia10.4
4muscular dystrophy-dystroglycanopathy , type b, 110.3

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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Symptoms by clinical synopsis from OMIM:

606612

Clinical features from OMIM:

606612

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

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

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

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

33
Brain, Eye

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

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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:

67 (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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.1387A> G (p.Asn463Asp)single nucleotide variantPathogenicrs121908110GRCh37Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet