LCCS4
MCID: LTH026
MIFTS: 21

Lethal Congenital Contracture Syndrome 4 (LCCS4)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Lethal Congenital Contracture Syndrome 4

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 4:

Name: Lethal Congenital Contracture Syndrome 4 56 12 52 73 29 13 6 71
Lccs4 56 73
Contracture Syndrome, Lethal, Congenital, Type 4 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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'


HPO:

31
lethal congenital contracture syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060654
OMIM 56 614915
OMIM Phenotypic Series 56 PS253310
MeSH 43 D001176
UMLS 71 C3554046

Summaries for Lethal Congenital Contracture Syndrome 4

UniProtKB/Swiss-Prot : 73 Lethal congenital contracture syndrome 4: 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 lethal congenital contracture syndrome 1 and alkuraya-kucinskas syndrome. An important gene associated with Lethal Congenital Contracture Syndrome 4 is MYBPC1 (Myosin Binding Protein C1). Affiliated tissues include skeletal muscle, and related phenotypes are respiratory insufficiency and skeletal muscle atrophy

Disease Ontology : 12 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

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:

31
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 HP:0002093
2 skeletal muscle atrophy 31 HP:0003202
3 multiple joint contractures 31 HP:0002828
4 distal arthrogryposis 31 HP:0005684

Symptoms via clinical synopsis from OMIM:

56
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

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 29 MYBPC1

Anatomical Context for Lethal Congenital Contracture Syndrome 4

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 4:

40
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. 56 6 61
22610851 2012

Variations for Lethal Congenital Contracture Syndrome 4

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 4:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYBPC1 NM_002465.4(MYBPC1):c.952C>T (p.Arg318Ter)SNV Pathogenic 39766 rs397515422 12:102038561-102038561 12:101644783-101644783

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

Sources for Lethal Congenital Contracture Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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