LCCS4
MCID: LTH026
MIFTS: 36

Lethal Congenital Contracture Syndrome 4 (LCCS4)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Lethal Congenital Contracture Syndrome 4

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 4:

Name: Lethal Congenital Contracture Syndrome 4 57 11 19 73 28 5 14 71
Lccs4 57 73
Contracture Syndrome, Lethal, Congenital, Type 4 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
death due to respiratory insufficiency within minutes to hours after birth
clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3'


Classifications:



External Ids:

Disease Ontology 11 DOID:0060654
OMIM® 57 614915
OMIM Phenotypic Series 57 PS253310
MeSH 43 D001176
UMLS 71 C3554046

Summaries for Lethal Congenital Contracture Syndrome 4

UniProtKB/Swiss-Prot: 73 A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.

MalaCards based summary: Lethal Congenital Contracture Syndrome 4, also known as lccs4, is related to distal arthrogryposis and cardiomyopathy, familial hypertrophic, 4. An important gene associated with Lethal Congenital Contracture Syndrome 4 is MYBPC1 (Myosin Binding Protein C1), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, and related phenotypes are respiratory insufficiency and skeletal muscle atrophy

Disease Ontology: 11 A lethal congenital contracture syndrome that has material basis in homozygous mutation in the MYBPC1 gene on chromosome 12q23.

More information from OMIM: 614915 PS253310

Related Diseases for Lethal Congenital Contracture Syndrome 4

Diseases in the Lethal Congenital Contracture Syndrome family:

Lethal Congenital Contracture Syndrome 1 Lethal Congenital Contracture Syndrome 2
Lethal Congenital Contracture Syndrome 3 Lethal Congenital Contracture Syndrome 4
Lethal Congenital Contracture Syndrome 5 Lethal Congenital Contracture Syndrome 6
Lethal Congenital Contracture Syndrome 7 Lethal Congenital Contracture Syndrome 8
Lethal Congenital Contracture Syndrome 9 Lethal Congenital Contracture Syndrome 10
Lethal Congenital Contracture Syndrome 11

Diseases related to Lethal Congenital Contracture Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 distal arthrogryposis 27.9 TPM2 TNNT3 TNNI2 SMN2 SMN1 SMAD9
2 cardiomyopathy, familial hypertrophic, 4 10.2 MYBPC3 MYBPC2 MYBPC1
3 lethal congenital contracture syndrome 2 10.2 MYBPC2 MYBPC1 ADGRG6
4 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.2 TPM2 TNNT3 TNNI2
5 joubert syndrome 33 10.2 SMAD9 CTSC
6 congenital fiber-type disproportion 10.2 TPM2 TNNT3 TNNI2
7 fibromuscular dysplasia 10.2 OBSCN MYLK
8 myopathy, distal, 1 10.2 TPM2 MYH3 MYBPC3
9 hyaline body myopathy 10.1 TPM2 MYH3
10 mitochondrial dna depletion syndrome 12b 10.1 SMAD9 OBSCN MYBPC3
11 fissured tongue 10.1 TPM2 TNNT3 TNNI2 MYBPC1
12 spinal muscular atrophy type 0 10.1 SMN2 SMN1
13 46,xy sex reversal 1 10.1 SMN2 SMN1
14 spinal muscular atrophy, x-linked 2 10.1 SMN2 SMN1
15 autosomal recessive distal hereditary motor neuronopathy 10.1 SMN2 SMN1
16 arthrogryposis, distal, type 2b1 10.1 TPM2 TNNT3 TNNI2 MYH3
17 clubfoot 10.1 TPM2 TNNT3 MYH3 MYBPC1
18 arthrogryposis, distal, type 2b3 10.1 TPM2 TNNT3 TNNI2 MYH3
19 anterior horn cell disease 10.0 SMN2 SMN1
20 ceroid lipofuscinosis, neuronal, 7 10.0 SMN2 SMN1
21 patent ductus arteriosus 1 10.0 SMAD9 MYLK MYBPC3
22 childhood spinal muscular atrophy 10.0 SMN2 SMN1
23 amyloidosis, hereditary, transthyretin-related 10.0 SMN2 SMN1 MYBPC3
24 bone structure disease 10.0 SMN2 SMN1 ADGRG6
25 arthrogryposis, distal, type 10 10.0 TPM2 TNNT3 TNNI2 MYH3 MYBPC1
26 arthrogryposis, distal, type 5d 10.0 TPM2 TNNT3 TNNI2 MYH3 MYBPC1
27 constrictive pericarditis 10.0 TNNI3 MYBPC3
28 arthrogryposis, distal, type 7 10.0 TPM2 TNNT3 TNNI2 MYH3 MYBPC1
29 spondylocarpotarsal synostosis syndrome 10.0 TPM2 TNNT3 TNNI2 MYH3 MYBPC1
30 myotonic dystrophy 1 10.0 TNNT3 SMN2 SMN1
31 lethal congenital contracture syndrome 1 10.0
32 lethal congenital contracture syndrome 10.0
33 multiple pterygium syndrome, escobar variant 10.0 TPM2 TNNT3 TNNI2 MYH3 MYBPC1
34 spinal muscular atrophy, distal, autosomal recessive, 1 10.0 SMN2 SMN1
35 developmental and epileptic encephalopathy 11 9.9 TRIM8 SMAD9
36 muscle tissue disease 9.9 SMN2 SMN1 MYH3
37 left bundle branch hemiblock 9.9 TNNI3 MYBPC3
38 spinal muscular atrophy with progressive myoclonic epilepsy 9.9 SMN2 SMN1
39 cardiomyopathy, dilated, 1m 9.9 TNNI3 TNNI2
40 diastolic heart failure 9.9 TNNI3 MYBPC3
41 muscular disease 9.9 SMN2 SMN1 MYH3
42 arthrogryposis, distal, type 2a 9.9 TPM2 TNNT3 TNNI2 MYH3 MYBPC2 MYBPC1
43 arthrogryposis, distal, type 1a 9.9 TPM2 TNNT3 TNNI2 MYH3 MYBPC2 MYBPC1
44 necrotizing fasciitis 9.9 MYOM2 FN1
45 rheumatic myocarditis 9.8 TNNI3 MYOM2
46 left ventricular noncompaction 9.8 TNNI3 OBSCN MYBPC3 MYBPC2
47 atrial heart septal defect 9.8 TNNI3 SMAD9 MYBPC3
48 patent foramen ovale 9.8 TNNI3 SMAD9 MYBPC3
49 nemaline myopathy 5 9.8 TPM2 TNNT3 TNNI3 TNNI2
50 arthrogryposis, distal, type 5 9.8 TPM2 TNNT3 TNNI2 MYH3 MYBPC2 MYBPC1

Graphical network of the top 20 diseases related to Lethal Congenital Contracture Syndrome 4:



Diseases related to Lethal Congenital Contracture Syndrome 4

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 4

Human phenotypes related to Lethal Congenital Contracture Syndrome 4:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 30 HP:0002093
2 skeletal muscle atrophy 30 HP:0003202
3 multiple joint contractures 30 HP:0002828
4 distal arthrogryposis 30 HP:0005684

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Respiratory:
respiratory insufficiency at birth, lethal

Muscle Soft Tissue:
muscle wasting, severe, primarily in the legs
muscle atrophy, primarily in the legs

Skeletal Limbs:
severe multiple joint contractures

Clinical features from OMIM®:

614915 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 ADGRG6 CTSC FN1 GSTP1 MYBPC1 MYBPC2
2 no effect GR00402-S-2 10.14 ADGRG6 FN1 GSTP1 MYBPC2 MYH3 MYLK

MGI Mouse Phenotypes related to Lethal Congenital Contracture Syndrome 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.15 ADGRG6 FN1 MYBPC1 MYBPC3 MYH3 MYLK
2 growth/size/body region MP:0005378 10.13 ADGRG6 CTSC FN1 GSTP1 MYBPC1 MYBPC2
3 cardiovascular system MP:0005385 9.97 ADGRG6 FN1 MYBPC2 MYBPC3 MYLK OBSCN
4 limbs/digits/tail MP:0005371 9.87 FMN1 FN1 SMAD9 SMN1 SMN2 TNNI2
5 skeleton MP:0005390 9.65 ADGRG6 FMN1 FN1 MYBPC1 MYLK SMAD9
6 mortality/aging MP:0010768 9.53 ADGRG6 FMN1 FN1 MYBPC1 MYBPC2 MYH3

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 4

Search Clinical Trials, NIH Clinical Center for Lethal Congenital Contracture Syndrome 4

Genetic Tests for Lethal Congenital Contracture Syndrome 4

Genetic tests related to Lethal Congenital Contracture Syndrome 4:

# Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 4 28 MYBPC1

Anatomical Context for Lethal Congenital Contracture Syndrome 4

Organs/tissues related to Lethal Congenital Contracture Syndrome 4:

MalaCards : Skeletal Muscle

Publications for Lethal Congenital Contracture Syndrome 4

Articles related to Lethal Congenital Contracture Syndrome 4:

# Title Authors PMID Year
1
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. 62 57 5
22610851 2012

Variations for Lethal Congenital Contracture Syndrome 4

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 4:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYBPC1 NM_002465.4(MYBPC1):c.952C>T (p.Arg318Ter) SNV Pathogenic
39766 rs397515422 GRCh37: 12:102038561-102038561
GRCh38: 12:101644783-101644783
2 MYBPC1 NM_002465.4(MYBPC1):c.32A>G (p.Glu11Gly) SNV Uncertain Significance
816808 rs1309691397 GRCh37: 12:102008280-102008280
GRCh38: 12:101614502-101614502
3 MYBPC1 NM_002465.4(MYBPC1):c.1634-18del DEL Benign
258658 rs3835190 GRCh37: 12:102046875-102046875
GRCh38: 12:101653097-101653097
4 MYBPC1 NM_002465.4(MYBPC1):c.2222-38T>C SNV Benign
1228159 GRCh37: 12:102057166-102057166
GRCh38: 12:101663388-101663388
5 MYBPC1 NM_002465.4(MYBPC1):c.3492+39C>T SNV Benign
1276920 GRCh37: 12:102076479-102076479
GRCh38: 12:101682701-101682701
6 MYBPC1 NM_002465.4(MYBPC1):c.1633+33T>C SNV Benign
1277918 GRCh37: 12:102046595-102046595
GRCh38: 12:101652817-101652817
7 MYBPC1 NM_002465.4(MYBPC1):c.774C>T (p.Asp258_Leu259=) SNV Benign
129647 rs2293468 GRCh37: 12:102036305-102036305
GRCh38: 12:101642527-101642527
8 MYBPC1 NM_002465.4(MYBPC1):c.2817A>G (p.Pro939_Gly940=) SNV Benign
129645 rs764291 GRCh37: 12:102069077-102069077
GRCh38: 12:101675299-101675299
9 MYBPC1 NM_002465.4(MYBPC1):c.2544T>C (p.Ile848_Pro849=) SNV Benign
129644 rs7139095 GRCh37: 12:102064118-102064118
GRCh38: 12:101670340-101670340
10 MYBPC1 NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) SNV Benign
129642 rs3817552 GRCh37: 12:102045163-102045163
GRCh38: 12:101651385-101651385
11 MYBPC1 NM_002465.4(MYBPC1):c.*78G>A SNV Benign
306752 rs2764 GRCh37: 12:102079418-102079418
GRCh38: 12:101685640-101685640

Expression for Lethal Congenital Contracture Syndrome 4

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 4.

Pathways for Lethal Congenital Contracture Syndrome 4

GO Terms for Lethal Congenital Contracture Syndrome 4

Cellular components related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 9.8 TNNI3 OBSCN MYH3 MYBPC3
2 Gemini of coiled bodies GO:0097504 9.73 SMN2 SMN1
3 SMN complex GO:0032797 9.71 SMN2 SMN1
4 troponin complex GO:0005861 9.63 TNNI2 TNNI3 TNNT3
5 cardiac myofibril GO:0097512 9.62 TNNI3 MYBPC3
6 myofibril GO:0030016 9.43 TNNI3 OBSCN MYH3 MYBPC1
7 contractile fiber GO:0043292 9.37 TNNI3 MYH3
8 myosin filament GO:0032982 9.28 MYOM2 MYH3 MYBPC3 MYBPC2 MYBPC1

Biological processes related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.8 TNNI3 TNNI2 MYBPC3
2 sarcomere organization GO:0045214 9.76 MYH3 MYOM2 OBSCN TNNT3
3 DNA-templated transcription termination GO:0006353 9.73 SMN2 SMN1
4 regulation of ATP-dependent activity GO:0043462 9.71 TPM2 TNNT3
5 regulation of striated muscle contraction GO:0006942 9.67 TNNT3 MYBPC3
6 regulation of muscle contraction GO:0006937 9.56 TNNT3 TNNI3 TNNI2
7 skeletal muscle contraction GO:0003009 9.56 TNNT3 TNNI3 TNNI2 MYH3
8 muscle contraction GO:0006936 9.36 TPM2 TNNT3 TNNI3 TNNI2 MYOM2 MYH3

Molecular functions related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.73 MYBPC1 MYBPC2 MYBPC3 MYOM2 OBSCN TPM2
2 titin binding GO:0031432 9.63 OBSCN MYBPC3 MYBPC1
3 troponin T binding GO:0031014 9.62 TNNI3 TNNI2
4 actin binding GO:0003779 9.6 TPM2 TNNT3 TNNI3 TNNI2 MYLK MYH3
5 troponin C binding GO:0030172 9.56 TNNT3 TNNI3

Sources for Lethal Congenital Contracture Syndrome 4

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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