LCCS4
MCID: LTH026
MIFTS: 18

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 58 12 54 76 30 13 6 74
Lccs4 58 76
Contracture Syndrome, Lethal, Congenital, Type 4 41

Characteristics:

OMIM:

58
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:

33
lethal congenital contracture syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060654
OMIM 58 614915
MeSH 45 D001176
SNOMED-CT via HPO 70 24269006 258211005 74035001
UMLS 74 C3554046

Summaries for Lethal Congenital Contracture Syndrome 4

UniProtKB/Swiss-Prot : 76 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, is also known as lccs4. An important gene associated with Lethal Congenital Contracture Syndrome 4 is MYBPC1 (Myosin Binding Protein C, Slow Type). Affiliated tissues include skeletal muscle, and related phenotypes are skeletal muscle atrophy and distal arthrogryposis

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

Description from OMIM: 614915

Related Diseases for Lethal Congenital Contracture Syndrome 4

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 4

Human phenotypes related to Lethal Congenital Contracture Syndrome 4:

33
# Description HPO Frequency HPO Source Accession
1 skeletal muscle atrophy 33 HP:0003202
2 distal arthrogryposis 33 HP:0005684

Symptoms via clinical synopsis from OMIM:

58
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 30 MYBPC1

Anatomical Context for Lethal Congenital Contracture Syndrome 4

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

42
Skeletal Muscle

Publications for Lethal Congenital Contracture Syndrome 4

Variations for Lethal Congenital Contracture Syndrome 4

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYBPC1 NM_002465.3(MYBPC1): c.952C> T (p.Arg318Ter) single nucleotide variant Pathogenic rs397515422 GRCh37 Chromosome 12, 102038561: 102038561
2 MYBPC1 NM_002465.3(MYBPC1): c.952C> T (p.Arg318Ter) single nucleotide variant Pathogenic rs397515422 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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