MCID: MSC050
MIFTS: 47

Muscular Dystrophy, Congenital, 1b

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

Aliases & Classifications for Muscular Dystrophy, Congenital, 1b

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

Name: Muscular Dystrophy, Congenital, 1b 57 13 73
Mdc1b 57 12 59
Congenital Muscular Dystrophy Type 1b 12 59
Congenital Muscular Dystrophy 1b 12 15
Cmd1b 12 59
Familial Dilated Cardiomyopathy 73

Characteristics:

Orphanet epidemiological data:

59
congenital muscular dystrophy type 1b
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
muscular dystrophy, congenital, 1b:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 604801
Disease Ontology 12 DOID:0110634
ICD10 33 G71.2
Orphanet 59 ORPHA98893
ICD10 via Orphanet 34 G71.2
UMLS via Orphanet 74 C1858118
MedGen 42 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 cardiomyopathy, dilated, 1b and muscular dystrophy, congenital, lmna-related, 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 Degradation of the extracellular matrix and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include heart, testes and eye, and related phenotypes are facial palsy and elevated serum creatine phosphokinase

Description 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
Lama2-Related Muscular Dystrophy Congenital Muscular Dystrophy Due to Dystroglycanopathy
Congenital Muscular Dystrophy Type 1a

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1b 29.2 C1QBP DAG1 DMD FKTN LAMA2 LDB3
2 muscular dystrophy, congenital, lmna-related 28.7 DAG1 FKRP FKTN LAMA2
3 muscular dystrophy 27.7 DAG1 DMD FKRP FKTN LAMA2
4 creatine phosphokinase, elevated serum 10.2 DMD LAMA2
5 myopathy, x-linked, with excessive autophagy 10.2 DMD LAMA2
6 muscular dystrophy, limb-girdle, type 2c 10.2 DAG1 DMD
7 congenital muscular dystrophy without intellectual disability 10.1 FKRP FKTN
8 muscular dystrophy-dystroglycanopathy , type a, 1 10.1 FKRP FKTN
9 muscular dystrophy-dystroglycanopathy , type c, 4 10.0 FKRP FKTN
10 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 FKRP LAMA2
11 muscular dystrophy, limb-girdle, type 2l 10.0 FKRP FKTN
12 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 DMD FKRP
13 rigid spine muscular dystrophy 1 10.0 DMD LAMA2
14 congenital muscular dystrophy type 1a 9.9
15 muscular dystrophy, limb-girdle, type 2f 9.9 DMD FKRP
16 malignant hyperthermia 9.9 DMD LAMA2
17 ablepharon-macrostomia syndrome 9.8 FKRP FKTN
18 muscular dystrophy, limb-girdle, type 2b 9.8 DMD FKRP
19 muscular dystrophy, becker type 9.8 DMD FKTN LAMA2
20 neuromuscular disease 9.8 DMD LAMA2
21 autosomal recessive limb-girdle muscular dystrophy 9.7 DMD FKRP
22 myopathy, myofibrillar, 2 9.6 DMD LDB3
23 isolated hyperckemia 9.6 DMD FKRP LAMA2
24 muscular dystrophy, limb-girdle, type 2j 9.6 FKRP LDB3
25 lissencephaly 9.6 DAG1 FKRP FKTN
26 myofibrillar myopathy 9.6 DMD LDB3
27 myocarditis 9.5 DAG1 DMD
28 limb-girdle muscular dystrophy 9.4 DMD FKRP FKTN
29 muscular dystrophy, congenital merosin-deficient, 1a 9.3 DAG1 DMD FKTN LAMA2
30 familial isolated dilated cardiomyopathy 9.2 DMD FKTN LDB3
31 cardiomyopathy, dilated, 1d 8.9 DAG1 DMD LAMA2 LDB3
32 cardiomyopathy, dilated, 1a 8.9 DAG1 DMD LAMA2 LDB3
33 muscular dystrophy-dystroglycanopathy , type b, 6 8.6 DAG1 DMD FKRP FKTN LAMA2
34 muscular dystrophy-dystroglycanopathy , type a, 4 8.6 DAG1 DMD FKRP FKTN LAMA2
35 muscular dystrophy-dystroglycanopathy , type b, 5 8.6 DAG1 DMD FKRP FKTN LAMA2
36 muscle eye brain disease 8.6 DAG1 DMD FKRP FKTN LAMA2
37 muscle tissue disease 8.6 DAG1 DMD FKRP FKTN LAMA2
38 walker-warburg syndrome 8.6 DAG1 DMD FKRP FKTN LAMA2
39 myopathy 8.1 DAG1 DMD FKRP LAMA2 LDB3
40 dilated cardiomyopathy 7.6 DAG1 DMD FKRP FKTN LAMA2 LDB3

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
spinal rigidity

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

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

Head And Neck Neck:
wasting of sternocleidomastoid muscles

Chest External Features:
wasting of pectoralis muscles

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

Head And Neck Face:
facial weakness

Skeletal Limbs:
contractures of the achilles tendon

Respiratory:
early respiratory failure

Chest Diaphragm:
involvement of diaphragm


Clinical features from OMIM:

604801

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 facial palsy 32 HP:0010628
2 elevated serum creatine phosphokinase 32 HP:0003236
3 respiratory failure 32 HP:0002878
4 spinal rigidity 32 HP:0003306
5 motor delay 32 HP:0001270
6 congenital muscular dystrophy 32 HP:0003741
7 generalized hypotonia 32 HP:0001290
8 diaphragmatic weakness 32 HP:0009113
9 shoulder girdle muscle weakness 32 HP:0003547
10 achilles tendon contracture 32 HP:0001771
11 generalized muscle hypertrophy 32 HP:0003720
12 gowers sign 32 HP:0003391
13 sternocleidomastoid amyotrophy 32 HP:0012036
14 pectoralis amyotrophy 32 HP:0012037

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


facial paresis

GenomeRNAi Phenotypes related to Muscular Dystrophy, Congenital, 1b according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased IL-8 secretion GR00386-A-2 9.1 C1QBP DAG1 FKRP FKTN LAMA2 LDB3

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 DAG1 DMD FKRP FKTN LAMA2 LDB3
2 cellular MP:0005384 9.73 C1QBP DAG1 DMD FKRP FKTN LAMA2
3 growth/size/body region MP:0005378 9.7 C1QBP DAG1 DMD FKRP FKTN LAMA2
4 mortality/aging MP:0010768 9.5 DMD FKRP FKTN LAMA2 LDB3 C1QBP
5 muscle MP:0005369 9.1 DAG1 DMD FKRP FKTN LAMA2 LDB3

Drugs & Therapeutics for Muscular Dystrophy, Congenital, 1b

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

Genetic Tests for Muscular Dystrophy, Congenital, 1b

Anatomical Context for Muscular Dystrophy, Congenital, 1b

MalaCards organs/tissues related to Muscular Dystrophy, Congenital, 1b:

41
Heart, Testes, Eye, Thyroid

Publications for Muscular Dystrophy, Congenital, 1b

Articles related to Muscular Dystrophy, Congenital, 1b:

(show top 50) (show all 136)
# Title Authors Year
1
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. ( 29961767 )
2018
2
ZBTB17 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 29445930 )
2018
3
A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family. ( 29551499 )
2018
4
The pathogenic gene screening in a Chinese familial dilated cardiomyopathy pedigree from Hubei. ( 29109008 )
2018
5
MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy. ( 28902616 )
2017
6
Altered myocyte contractility and calcium homeostasis in alpha-myosin heavy chain point mutations linked to familial dilated cardiomyopathy. ( 28088328 )
2017
7
CASZ1 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 28099117 )
2017
8
Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy. ( 28816949 )
2017
9
Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy. ( 27235420 )
2016
10
GSK3I^ heterozygous knockout is cardioprotective in a knock-in mouse model of familial dilated cardiomyopathy. ( 27106044 )
2016
11
Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene. ( 27391596 )
2016
12
Pharmacological Modulation of Calcium Homeostasis in Familial Dilated Cardiomyopathy: An In Vitro Analysis From an RBM20 Patient-Derived iPSC Model. ( 27105042 )
2016
13
Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells. ( 26604136 )
2016
14
HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy. ( 26581070 )
2016
15
A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias. ( 25503402 )
2015
16
TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 25725155 )
2015
17
TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy. ( 26118961 )
2015
18
GATA5 loss-of-function mutation in familial dilated cardiomyopathy. ( 25543888 )
2015
19
Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain. ( 25825243 )
2015
20
Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin. ( 26498512 )
2015
21
A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death. ( 25498755 )
2015
22
A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy. ( 24366163 )
2014
23
GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy. ( 25119427 )
2014
24
Prognostic implications of the systolic to diastolic duration ratio in children with idiopathic or familial dilated cardiomyopathy. ( 25140066 )
2014
25
Peripartum cardiomyopathy and familial dilated Cardiomyopathy: a tale of two cases. ( 24162388 )
2013
26
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar CaA^a8_ sensitivity. ( 23539503 )
2013
27
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. ( 23861363 )
2013
28
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. ( 24205113 )
2013
29
Return of genetic results in the familial dilated cardiomyopathy research project. ( 22886719 )
2013
30
GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy. ( 24041700 )
2013
31
A novel titin mutation in adult-onset familial dilated cardiomyopathy. ( 22475360 )
2012
32
Familial dilated cardiomyopathy. Clinical and genetic characteristics. ( 23223770 )
2012
33
Familial dilated cardiomyopathy: Current challenges and future directions. ( 25610839 )
2012
34
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. ( 22517884 )
2012
35
Familial dilated cardiomyopathy associated with celiac disease. ( 22407635 )
2012
36
An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation. ( 23349612 )
2012
37
Review and metaanalysis of the frequency of familial dilated cardiomyopathy. ( 21798502 )
2011
38
Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. ( 21492761 )
2011
39
Familial dilated cardiomyopathy. ( 21574539 )
2011
40
Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. ( 21642240 )
2011
41
A randomised, placebo-controlled trial of carvedilol in early familial dilated cardiomyopathy. ( 21763198 )
2011
42
Evaluation of left ventricular enlargement as a marker of early disease in familial dilated cardiomyopathy. ( 21636824 )
2011
43
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant. ( 24062880 )
2011
44
Guidelines for the diagnosis and management of familial dilated cardiomyopathy. ( 21885340 )
2011
45
Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: implications for the evaluation of patients with unexplained cardiomyopathy. ( 21920073 )
2011
46
Familial dilated cardiomyopathy: another risk factor for anthracycline-induced cardiotoxicity? ( 20952769 )
2010
47
SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. ( 21167004 )
2010
48
Familial dilated cardiomyopathy--a case report from western Nepal. ( 21222413 )
2010
49
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. ( 20160190 )
2010
50
Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy. ( 20458010 )
2010

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 extracellular space GO:0005615 9.65 C1QBP DAG1 FKRP FKTN LAMA2
2 basement membrane GO:0005604 9.37 DAG1 LAMA2
3 filopodium GO:0030175 9.32 DAG1 DMD
4 sarcolemma GO:0042383 9.26 DAG1 DMD FKRP LAMA2
5 costamere GO:0043034 9.16 DAG1 DMD
6 dystrophin-associated glycoprotein complex GO:0016010 8.8 DAG1 DMD FKRP

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

# Name GO ID Score Top Affiliating Genes
1 skeletal muscle tissue regeneration GO:0043403 9.32 DAG1 DMD
2 protein O-linked mannosylation GO:0035269 9.26 FKRP FKTN
3 response to denervation involved in regulation of muscle adaptation GO:0014894 9.16 DAG1 DMD
4 muscle organ development GO:0007517 9.13 DMD FKTN LAMA2
5 Schwann cell differentiation GO:0014037 8.62 DAG1 LAMA2

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase C binding GO:0005080 9.26 C1QBP LDB3
2 structural constituent of muscle GO:0008307 9.16 DAG1 DMD
3 vinculin binding GO:0017166 8.96 DAG1 DMD
4 dystroglycan binding GO:0002162 8.62 DAG1 DMD

Sources for Muscular Dystrophy, Congenital, 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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