Genopathy
Gene-Disorder Association · Article
Gene
MYBPC1
Myosin Binding Protein C1
Disorder
Lethal Congenital Contracture Syndrome 4
First reported 2012
Supporting publications 1
Key publication · gene–disorder Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.Human mutation · 2012
Key publication · disorder Limb pterygium syndromes: a review and report of eleven patients.American journal of medical genetics · 1982
Manually curated
Association Review

In brief

The association between MYBPC1 (Myosin Binding Protein C1) and Lethal Congenital Contracture Syndrome 4 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 22
Symptoms 9
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
MYBPC1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Lethal Congenital Contracture Syndrome 4

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

5 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

22 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

6 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access