MDC1B
MCID: MSC050
MIFTS: 34

Muscular Dystrophy, Congenital, 1b (MDC1B)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Muscular Dystrophy, Congenital, 1b

MalaCards integrated aliases for Muscular Dystrophy, Congenital, 1b:

Name: Muscular Dystrophy, Congenital, 1b 57 13 70
Mdc1b 57 12 58
Congenital Muscular Dystrophy Type 1b 12 58
Congenital Muscular Dystrophy 1b 12 15
Cmd1b 12 58
Familial Dilated Cardiomyopathy 70

Characteristics:

Orphanet epidemiological data:

58
congenital muscular dystrophy type 1b
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

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


HPO:

31
muscular dystrophy, congenital, 1b:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110634
OMIM® 57 604801
ICD10 32 G71.2
ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 71 C1858118
Orphanet 58 ORPHA98893
MedGen 41 C1858118
UMLS 70 C0340427 C1858118

Summaries for Muscular Dystrophy, Congenital, 1b

Disease Ontology : 12 A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has material basis in variation in the chromosome region 1q42.

MalaCards based summary : Muscular Dystrophy, Congenital, 1b, also known as mdc1b, is related to muscular dystrophy, congenital, lmna-related and muscular dystrophy, and has symptoms including facial paresis An important gene associated with Muscular Dystrophy, Congenital, 1b is MDC1B (Muscular Dystrophy, Congenital, 1B), and among its related pathways/superpathways are MET promotes cell motility and Dilated cardiomyopathy. Related phenotypes are facial palsy and elevated serum creatine kinase

More information from OMIM: 604801

Related Diseases for Muscular Dystrophy, Congenital, 1b

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Lmna-Related
Congenital Muscular Dystrophy Due to Dystroglycanopathy Congenital Muscular Dystrophy Type 1a
Progressive Muscular Dystrophy

Diseases related to Muscular Dystrophy, Congenital, 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 27.8 RXYLT1 LAMA2 ITGA7 GMPPB FKTN FKRP
2 muscular dystrophy 27.1 RXYLT1 POMK MDC1B LAMA2 ITGA7 GMPPB
3 cardiomyopathy, dilated, 1b 11.4
4 cardiomyopathy, dilated, 1x 10.1 FKTN DAG1
5 congenital muscular dystrophy-dystroglycanopathy type a11 10.1 DAG1 B3GALNT2
6 retinal lattice degeneration 10.1 FKTN DAG1
7 hydrophthalmos 10.1 FKTN DAG1
8 muscular dystrophy-dystroglycanopathy , type c, 14 10.1 GMPPB DAG1
9 muscular dystrophy-dystroglycanopathy , type c, 9 10.1 GMPPB DAG1
10 congenital muscular dystrophy-dystroglycanopathy a14 10.0 LAMA2 GMPPB DAG1
11 congenital muscular dystrophy-dystroglycanopathy type a10 10.0 POMK LAMA2 B3GALNT2
12 creatine phosphokinase, elevated serum 10.0 LAMA2 GMPPB
13 combined oxidative phosphorylation deficiency 6 9.9 RXYLT1 B3GALNT2
14 hypotonia 9.9
15 congenital muscular dystrophy without intellectual disability 9.9 FKTN FKRP
16 congenital muscular dystrophy-dystroglycanopathy a7 9.9 FKTN FKRP
17 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 9.9 LAMA2 ITGA7 DAG1
18 neuromuscular junction disease 9.9 GMPPB DAG1
19 congenital muscular dystrophy with intellectual disability 9.9 GMPPB FKRP
20 congenital muscular dystrophy due to dystroglycanopathy 9.8 GMPPB FKRP
21 congenital muscular dystrophy-dystroglycanopathy type a3 9.8 RXYLT1 POMK B3GALNT2
22 autosomal recessive limb-girdle muscular dystrophy type 2f 9.8 FKRP DAG1
23 ablepharon-macrostomia syndrome 9.8 FKTN FKRP
24 limb-girdle muscular dystrophy 9.8 LAMA2 FKTN FKRP
25 fukuyama type muscular dystrophy 9.8 FKTN FKRP
26 autosomal recessive limb-girdle muscular dystrophy type 2c 9.8 LAMA2 FKRP DAG1
27 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 LAMA2 FKRP DAG1
28 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 LAMA2 FKRP DAG1
29 autosomal recessive limb-girdle muscular dystrophy type 2l 9.7 FKTN FKRP DAG1
30 adermatoglyphia 9.7 FKTN FKRP DAG1
31 muscular dystrophy, duchenne type 9.7 LAMA2 ITGA7 FKTN DAG1
32 congenital muscular dystrophy-dystroglycanopathy type a5 9.7 RXYLT1 FKRP DAG1
33 congenital muscular dystrophy with cerebellar involvement 9.6 POMK GMPPB FKRP
34 muscular dystrophy-dystroglycanopathy , type a, 1 9.6 RXYLT1 FKTN FKRP
35 autosomal recessive limb-girdle muscular dystrophy type 2d 9.6 LAMA2 FKTN FKRP DAG1
36 muscular dystrophy-dystroglycanopathy , type c, 5 9.6 LAMA2 FKTN FKRP DAG1
37 muscular dystrophy, becker type 9.6 LAMA2 FKTN FKRP DAG1
38 rigid spine muscular dystrophy 1 9.6 LAMA2 FKTN FKRP DAG1
39 muscle tissue disease 9.6 LAMA2 FKTN FKRP DAG1
40 muscular disease 9.6 LAMA2 FKTN FKRP DAG1
41 nonaka myopathy 9.6 FKRP DAG1
42 muscular dystrophy-dystroglycanopathy , type c, 2 9.5 GMPPB FKTN FKRP DAG1
43 isolated elevated serum creatine phosphokinase levels 9.5 LAMA2 GMPPB FKRP DAG1
44 muscular dystrophy-dystroglycanopathy , type c, 1 9.5 GMPPB FKTN FKRP DAG1
45 muscular dystrophy-dystroglycanopathy , type c, 4 9.5 GMPPB FKTN FKRP DAG1
46 congenital muscular dystrophy-dystroglycanopathy type a1 9.5 POMK FKTN FKRP DAG1
47 muscular dystrophy-dystroglycanopathy , type b, 6 9.5 RXYLT1 FKTN FKRP DAG1
48 neuromuscular disease 9.5 LAMA2 GMPPB FKRP DAG1
49 glaucoma 3, primary congenital, a 9.5 RXYLT1 FKTN FKRP DAG1
50 cardiomyopathy, dilated, 1d 9.5 LAMA2 ITGA7 FKRP DAG1

Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital, 1b:



Diseases related to Muscular Dystrophy, Congenital, 1b

Symptoms & Phenotypes for Muscular Dystrophy, Congenital, 1b

Human phenotypes related to Muscular Dystrophy, Congenital, 1b:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 facial palsy 31 HP:0010628
2 elevated serum creatine kinase 31 HP:0003236
3 achilles tendon contracture 31 HP:0001771
4 spinal rigidity 31 HP:0003306
5 motor delay 31 HP:0001270
6 respiratory failure 31 HP:0002878
7 generalized hypotonia 31 HP:0001290
8 congenital muscular dystrophy 31 HP:0003741
9 diaphragmatic weakness 31 HP:0009113
10 generalized muscle hypertrophy 31 HP:0003720
11 gowers sign 31 HP:0003391
12 shoulder girdle muscle weakness 31 HP:0003547
13 pectoralis amyotrophy 31 HP:0012037
14 sternocleidomastoid amyotrophy 31 HP:0012036

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
elevated serum creatine kinase
deficiency of laminin alpha-2 chain of merosin (lama2, ) in muscle

Neurologic Central Nervous System:
generalized hypotonia
gowers sign
delayed early motor milestones

Head And Neck Face:
facial weakness

Respiratory:
early respiratory failure

Chest External Features:
wasting of pectoralis muscles

Skeletal Spine:
spinal rigidity

Muscle Soft Tissue:
generalized muscle hypertrophy
shoulder girdle weakness
dystrophic changes on biopsy
limb girdle weakness

Skeletal Limbs:
contractures of the achilles tendon

Head And Neck Neck:
wasting of sternocleidomastoid muscles

Chest Diaphragm:
involvement of diaphragm

Clinical features from OMIM®:

604801 (Updated 05-Apr-2021)

UMLS symptoms related to Muscular Dystrophy, Congenital, 1b:


facial paresis

MGI Mouse Phenotypes related to Muscular Dystrophy, Congenital, 1b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 DAG1 FKRP FKTN ITGA7 LAMA2 XIRP1

Drugs & Therapeutics for Muscular Dystrophy, Congenital, 1b

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-Label, Exploratory Study of the Safety and Preliminary Efficacy of Danicamtiv in Stable Ambulatory Patients With Primary Dilated Cardiomyopathy Due to Either MYH7 or TTN Variants Recruiting NCT04572893 Phase 2 danicamtiv
2 Inflammatory/Familial Dilated Cardiomyopathy: Is There a Link to Autoimmune Diseases? TP9a of the KNHI Associated to the DZHK Completed NCT03090425

Search NIH Clinical Center for Muscular Dystrophy, Congenital, 1b

Genetic Tests for Muscular Dystrophy, Congenital, 1b

Anatomical Context for Muscular Dystrophy, Congenital, 1b

Publications for Muscular Dystrophy, Congenital, 1b

Articles related to Muscular Dystrophy, Congenital, 1b:

# Title Authors PMID Year
1
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. 57
10677302 2000
2
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 61
11592034 2001

Variations for Muscular Dystrophy, Congenital, 1b

Expression for Muscular Dystrophy, Congenital, 1b

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital, 1b.

Pathways for Muscular Dystrophy, Congenital, 1b

GO Terms for Muscular Dystrophy, Congenital, 1b

Cellular components related to Muscular Dystrophy, Congenital, 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.26 RXYLT1 FKTN FKRP B3GALNT2
2 sarcolemma GO:0042383 8.8 LAMA2 FKRP DAG1

Biological processes related to Muscular Dystrophy, Congenital, 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.54 LAMA2 ITGA7 DAG1
2 muscle organ development GO:0007517 9.5 LAMA2 ITGA7 FKTN
3 protein glycosylation GO:0006486 9.46 RXYLT1 FKTN FKRP B3GALNT2
4 Schwann cell differentiation GO:0014037 9.26 LAMA2 DAG1
5 protein O-linked glycosylation GO:0006493 9.13 POMK FKTN B3GALNT2
6 protein O-linked mannosylation GO:0035269 8.8 RXYLT1 FKTN FKRP

Molecular functions related to Muscular Dystrophy, Congenital, 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.43 RXYLT1 POMK GMPPB FKTN FKRP B3GALNT2
2 dystroglycan binding GO:0002162 8.62 FKRP DAG1

Sources for Muscular Dystrophy, Congenital, 1b

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
Content
Loading form....