MCID: LTH026
MIFTS: 20

Lethal Congenital Contracture Syndrome 4

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome 4

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 4:

Name: Lethal Congenital Contracture Syndrome 4 57 12 53 75 29 13 6 73
Lccs4 57 75
Contracture Syndrome, Lethal, Congenital, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3'
death due to respiratory insufficiency within minutes to hours after birth


HPO:

32
lethal congenital contracture syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614915
Disease Ontology 12 DOID:0060654
MeSH 44 D001176
SNOMED-CT via HPO 69 258211005 74035001 24269006
UMLS 73 C3554046

Summaries for Lethal Congenital Contracture Syndrome 4

UniProtKB/Swiss-Prot : 75 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 and congenital contractures. 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Lethal Congenital Contracture Syndrome 4:

32
# Description HPO Frequency HPO Source Accession
1 skeletal muscle atrophy 32 HP:0003202
2 distal arthrogryposis 32 HP:0005684

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:

41
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 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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