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Familial progressive cardiac conduction defect

5 OMIM references -
4 associated genes
1 sign/symptom

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
35 signs/symptoms

Familial progressive cardiac conduction defect

Myhre syndrome

NKX2-5	(UniProt - OMIM)		SMAD4	(UniProt - OMIM)
SCN1B	(UniProt - OMIM)
SCN5A	(UniProt - OMIM)
TRPM4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NKX2-5	(0.63)	SMAD4

Citations in the biomedical literature:

Familial progressive cardiac conduction defect		Myhre syndrome
	Synonym(s): - Familial LenÃ¨gre disease - Familial Lev disease - Familial Lev-LenÃ¨gre disease - Familial PCCD - Familial progressive heart block - Hereditary bundle branch defect		Synonym(s): - Facial dysmorphism - intellectual deficit - short stature - hearing loss

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

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 5 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Familial progressive cardiac conduction defect		Myhre syndrome
	Frequent - Cardiac rhythm disorder / arrhythmia		Very frequent - Anomalies of the ribs - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Hearing loss / hypoacusia / deafness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microstomia / little mouth - Mid-facial hypoplasia / short / small midface - Muscle hypertrophy - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Prognathism / prognathia - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short philtrum - Short stature / dwarfism / nanism - Thin / retracted lips Frequent - Abnormal EMG / electromyogram / electropmyography - Blepharophimosis / short palpebral fissures - Cardiac septal defect - Chronic arterial hypertension - Epiphyseal anomaly - Hypermetropia - Metaphyseal anomaly - Ptosis - Thick skin / pachydermia / orange skin - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Late puberty / hypogonadism / hypogenitalism - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Precocious puberty - Psychic / behavioural troubles