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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
33 signs/symptoms
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Frontometaphyseal dysplasia

LMNA FLNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.73)
FLNA



Citations in the biomedical literature:


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
LMNA
Frontometaphyseal dysplasia
FLNA



Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Frontometaphyseal dysplasia

Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538064

Frontometaphyseal dysplasia

Very frequent
- Bowed diaphysis / diaphyses / long bones
- Camptodactyly of fingers
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Diaphyseal anomaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Frontal sinus agenesis / anomaly
- Hypertelorism
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent supraorbital ridge
- Restricted joint mobility / joint stiffness / ankylosis
- Tooth shape anomaly
- X-linked recessive inheritance

Frequent
- Abnormal vertebral size / shape
- Advanced bone age
- Carpal bones fusion / synostosis
- Conductive deafness / hearing loss
- Elbow dislocation
- High vaulted / narrow palate
- Long hand / arachnodactyly
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Scoliosis
- Sensorineural deafness / hearing loss
- Thumb hypoplasia / aplasia / absence
- Ulnar deviation of fingers

Occasional
- Atrioventricular canal
- Autosomal dominant inheritance
- Craniostenosis / craniosynostosis / sutural synostosis
- Larynx / laryngeal stenosis / atresia
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Tracheal atresia / stenosis
- Ureteral stenosis / narrowing
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

(no data available)