Cytoscape Web
Click node...

Lethal congenital contracture syndrome type 3
2 OMIM references -
2 associated genes
32 connected diseases
No signs/symptoms info
Disease Type of connection
Digitotalar dysmorphism
Reducing body myopathy
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Donnai-Barrow syndrome
Early-onset myopathy with fatal cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated dilated cardiomyopathy
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Familial gastric cancer
Gastric linitis plastica
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal recessive limb girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2C
Boomerang dysplasia
Chronic granulomatous disease
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Miyoshi myopathy
Spondylocarpotarsal synostosis
Catecholaminergic polymorphic ventricular tachycardia
Synonym(s):
- LCCS3
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
MYBPC1 Q00872160794
PIP5K1C O60331606102
No signs/symptoms info available.