MDDGB15
MCID: MSC200
MIFTS: 19

Muscular Dystrophy-Dystroglycanopathy , Type B, 15 (MDDGB15)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 15:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 15 57 72 29 6
Mddgb15 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Impaired Intellectual Development B15 72
Muscular Dystrophy, Congenital, Dpm3-Related 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
one chinese girl has been reported (last curated august 2020)


HPO:

31
muscular dystrophy-dystroglycanopathy , type b, 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618992
OMIM Phenotypic Series 57 PS613155
MeSH 44 D009136
MedGen 41 CN283339

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15: An autosomal recessive, congenital muscular disorder characterized by hyperCKemia, myopathic features observed on muscle biopsy, developmental delay, mildly impaired intellectual development with learning difficulties, epilepsy, and mild white matter abnormalities.

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 15, is also known as mddgb15. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 15 is DPM3 (Dolichyl-Phosphate Mannosyltransferase Subunit 3, Regulatory). Affiliated tissues include skeletal muscle, and related phenotypes are myopathy and abnormality of the periventricular white matter

More information from OMIM: 618992 PS613155

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 15:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 myopathy 31 very rare (1%) HP:0003198
2 abnormality of the periventricular white matter 31 very rare (1%) HP:0002518
3 increased variability in muscle fiber diameter 31 very rare (1%) HP:0003557
4 centrally nucleated skeletal muscle fibers 31 very rare (1%) HP:0003687
5 delayed ability to walk 31 very rare (1%) HP:0031936
6 delayed ability to stand 31 very rare (1%) HP:0025335
7 generalized non-motor (absence) seizure 31 very rare (1%) HP:0002121
8 highly elevated creatine kinase 31 very rare (1%) HP:0030234

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
myopathy
normal muscle strength
increased fiber size variability on muscle biopsy
increased central nuclei
decreased alpha-dystroglycan

Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Central Nervous System:
absence seizures
delayed motor development
learning difficulties
impaired intellectual development, mild
walking by age 3 years
more

Clinical features from OMIM®:

618992 (Updated 05-Apr-2021)

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 15:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Impaired Intellectual Development), Type B, 15 29 DPM3

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 15:

40
Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type B, 15:

# Title Authors PMID Year
1
Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement. 6 57
31469168 2019

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 15:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DPM3 NM_153741.2(DPM3):c.254T>A (p.Leu85Ter) SNV Pathogenic 694278 rs121908155 GRCh37: 1:155112463-155112463
GRCh38: 1:155139987-155139987
2 DPM3 NM_153741.2(DPM3):c.124C>G (p.Pro42Ala) SNV Pathogenic 694292 rs745692004 GRCh37: 1:155112593-155112593
GRCh38: 1:155140117-155140117

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 15.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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