MCID: MSC035
MIFTS: 16

Muscular Dystrophy-Dystroglycanopathy , Type B, 5 malady

Genetic diseases (common), Muscle diseases, Neuronal diseases, Mental diseases categories

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 46 9


Classifications:



External Ids:

OMIM46 606612

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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OMIM:46 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 and has symptoms including pachygyria, ventriculomegaly and autosomal recessive inheritance. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5 is FKRP (fukutin related protein). Affiliated tissues include brain.

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

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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 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:

31
Brain

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:

63 (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

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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet