MCID: MSC050
MIFTS: 51

Muscular Dystrophy, Congenital, 1b

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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, 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, bone and testes, 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 42)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1b 31.7 C1QBP DAG1 DMD FKTN LAMA2 LDB3
2 muscular dystrophy 29.5 DAG1 DMD FKRP FKTN LAMA2
3 muscular dystrophy, congenital, lmna-related 29.5 DAG1 DMD FKRP FKTN LAMA2
4 perrault syndrome 1 11.1
5 muscular dystrophy-dystroglycanopathy 10.1 DAG1 FKRP
6 congenital muscular dystrophy type 1a 10.1
7 creatine phosphokinase, elevated serum 10.1 DMD LAMA2
8 muscular dystrophy-dystroglycanopathy , type c, 5 10.1 FKRP LAMA2
9 congenital muscular dystrophy without intellectual disability 10.1 FKRP FKTN
10 myopathy, x-linked, with excessive autophagy 10.0 DMD LAMA2
11 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 FKRP FKTN
12 muscular dystrophy-dystroglycanopathy , type c, 4 10.0 FKRP FKTN
13 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 DMD FKRP
14 miyoshi muscular dystrophy 10.0 DMD LAMA2
15 autosomal recessive limb-girdle muscular dystrophy 10.0 DMD FKRP
16 rigid spine muscular dystrophy 1 10.0 DMD LAMA2
17 ablepharon-macrostomia syndrome 10.0 FKRP FKTN
18 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 DMD FKRP
19 malignant hyperthermia 10.0 DMD LAMA2
20 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0 DMD FKRP
21 neuromuscular disease 10.0 DMD LAMA2
22 muscular dystrophy, becker type 9.9 DMD FKTN LAMA2
23 myocarditis 9.9 DAG1 DMD
24 muscle eye brain disease 9.9 DAG1 FKRP FKTN
25 isolated hyperckemia 9.9 DMD FKRP LAMA2
26 lissencephaly 9.9 DAG1 FKRP FKTN
27 myopathy, myofibrillar, 2 9.9 DMD LDB3
28 myofibrillar myopathy 9.8 DMD LDB3
29 atrial standstill 1 9.8 DMD FKRP
30 muscular dystrophy, congenital merosin-deficient, 1a 9.8 DAG1 DMD FKTN LAMA2
31 familial isolated dilated cardiomyopathy 9.8 DMD FKTN LDB3
32 limb-girdle muscular dystrophy 9.7 DMD FKRP FKTN LAMA2
33 cardiomyopathy, dilated, 1d 9.6 DAG1 DMD LAMA2 LDB3
34 cardiomyopathy, dilated, 1a 9.6 DAG1 DMD LAMA2 LDB3
35 muscular dystrophy-dystroglycanopathy , type a, 1 9.6 DAG1 DMD FKRP FKTN LAMA2
36 muscular dystrophy-dystroglycanopathy , type a, 4 9.6 DAG1 DMD FKRP FKTN LAMA2
37 muscular dystrophy-dystroglycanopathy , type b, 6 9.6 DAG1 DMD FKRP FKTN LAMA2
38 muscular dystrophy-dystroglycanopathy , type b, 5 9.6 DAG1 DMD FKRP FKTN LAMA2
39 muscle tissue disease 9.6 DAG1 DMD FKRP FKTN LAMA2
40 walker-warburg syndrome 9.6 DAG1 DMD FKRP FKTN LAMA2
41 muscular disease 9.3 DAG1 DMD FKRP FKTN LAMA2 LDB3
42 dilated cardiomyopathy 9.3 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 achilles tendon contracture 32 HP:0001771
4 spinal rigidity 32 HP:0003306
5 motor delay 32 HP:0001270
6 respiratory failure 32 HP:0002878
7 congenital muscular dystrophy 32 HP:0003741
8 generalized hypotonia 32 HP:0001290
9 gowers sign 32 HP:0003391
10 pectoralis amyotrophy 32 HP:0012037
11 diaphragmatic weakness 32 HP:0009113
12 shoulder girdle muscle weakness 32 HP:0003547
13 generalized muscle hypertrophy 32 HP:0003720
14 sternocleidomastoid amyotrophy 32 HP:0012036

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 C1QBP DAG1 DMD FKRP FKTN LAMA2
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, Bone, Testes, Eye, Thyroid, Brain

Publications for Muscular Dystrophy, Congenital, 1b

Articles related to Muscular Dystrophy, Congenital, 1b:

(show top 50) (show all 155)
# Title Authors Year
1
Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management. ( 30482687 )
2019
2
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. ( 29961767 )
2018
3
ZBTB17 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 29445930 )
2018
4
A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family. ( 29551499 )
2018
5
The pathogenic gene screening in a Chinese familial dilated cardiomyopathy pedigree from Hubei. ( 29109008 )
2018
6
Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report. ( 29871609 )
2018
7
HAND2 loss-of-function mutation causes familial dilated cardiomyopathy. ( 30217752 )
2018
8
Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing. ( 30221713 )
2018
9
MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy. ( 28902616 )
2017
10
Altered myocyte contractility and calcium homeostasis in alpha-myosin heavy chain point mutations linked to familial dilated cardiomyopathy. ( 28088328 )
2017
11
CASZ1 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 28099117 )
2017
12
Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy. ( 28816949 )
2017
13
Identification of MYLK3 mutations in familial dilated cardiomyopathy. ( 29235529 )
2017
14
Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group. ( 28193717 )
2017
15
Mutation in δ-Sg Gene in Familial Dilated Cardiomyopathy. ( 28401079 )
2017
16
The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy. ( 28600229 )
2017
17
Position Statement on the Diagnosis and Management of Familial Dilated Cardiomyopathy. ( 28655534 )
2017
18
Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers. ( 27889554 )
2017
19
Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy. ( 27235420 )
2016
20
GSK3I^ heterozygous knockout is cardioprotective in a knock-in mouse model of familial dilated cardiomyopathy. ( 27106044 )
2016
21
Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene. ( 27391596 )
2016
22
Pharmacological Modulation of Calcium Homeostasis in Familial Dilated Cardiomyopathy: An In Vitro Analysis From an RBM20 Patient-Derived iPSC Model. ( 27105042 )
2016
23
Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells. ( 26604136 )
2016
24
HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy. ( 26581070 )
2016
25
Cardiomyopathies: In vitro genetic correction of familial dilated cardiomyopathy. ( 27489187 )
2016
26
Genetic Variations Leading to Familial Dilated Cardiomyopathy. ( 27802374 )
2016
27
Dkk3 prevents familial dilated cardiomyopathy development through Wnt pathway. ( 26641069 )
2016
28
Familial dilated cardiomyopathy diagnosis is commonly overlooked at the time of transplant listing. ( 26852066 )
2016
29
Complexities of Genetic Testing in Familial Dilated Cardiomyopathy. ( 26884609 )
2016
30
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. ( 26899768 )
2016
31
A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias. ( 25503402 )
2015
32
TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 25725155 )
2015
33
TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy. ( 26118961 )
2015
34
GATA5 loss-of-function mutation in familial dilated cardiomyopathy. ( 25543888 )
2015
35
Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain. ( 25825243 )
2015
36
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
37
A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death. ( 25498755 )
2015
38
Diagnosis, prevalence, and screening of familial dilated cardiomyopathy. ( 27547593 )
2015
39
A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy. ( 24366163 )
2014
40
GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy. ( 25119427 )
2014
41
Prognostic implications of the systolic to diastolic duration ratio in children with idiopathic or familial dilated cardiomyopathy. ( 25140066 )
2014
42
Peripartum cardiomyopathy and familial dilated Cardiomyopathy: a tale of two cases. ( 24162388 )
2013
43
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar CaA^a8_ sensitivity. ( 23539503 )
2013
44
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. ( 23861363 )
2013
45
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. ( 24205113 )
2013
46
Return of genetic results in the familial dilated cardiomyopathy research project. ( 22886719 )
2013
47
GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy. ( 24041700 )
2013
48
A novel titin mutation in adult-onset familial dilated cardiomyopathy. ( 22475360 )
2012
49
Familial dilated cardiomyopathy. Clinical and genetic characteristics. ( 23223770 )
2012
50
Familial dilated cardiomyopathy: Current challenges and future directions. ( 25610839 )
2012

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 basement membrane GO:0005604 9.37 DAG1 LAMA2
2 filopodium GO:0030175 9.32 DAG1 DMD
3 GABA-ergic synapse GO:0098982 9.26 C1QBP DAG1
4 costamere GO:0043034 9.16 DAG1 DMD
5 dystrophin-associated glycoprotein complex GO:0016010 9.13 DAG1 DMD FKRP
6 sarcolemma GO:0042383 8.92 DAG1 DMD FKRP LAMA2

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 8.8 DAG1 DMD FKRP

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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