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Familial progressive cardiac conduction defect
5 OMIM references -
4 associated genes
45 connected diseases
1 sign/symptom
Disease Type of connection
Familial atrial fibrillation
Brugada syndrome
Romano-Ward syndrome
Atrial septal defect, ostium secundum type
Single ventricular septal defect
Tetralogy of Fallot
Atrial septal defect - atrioventricular conduction defects
Atrial stand still
Dravet syndrome
Familial isolated congenital asplenia
Familial isolated dilated cardiomyopathy
Familial sick sinus syndrome
Generalized epilepsy with febrile seizures-plus context
Hypoplastic left heart syndrome
Idiopathic ventricular fibrillation, not Brugada type
Thyroid hypoplasia
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Partial atrioventricular canal
Catecholaminergic polymorphic ventricular tachycardia
Holt-Oram syndrome
Congenital analbuminemia
Congenital lethal myopathy, Compton-North type
Kabuki syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1C
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Rippling muscle disease
17q23.1q23.2 microdeletion syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
X-linked non-syndromic intellectual deficit
- Familial Lenègre disease
- Familial Lev disease
- Familial Lev-Lenègre disease
- Familial PCCD
- Familial progressive heart block
- Hereditary bundle branch defect

Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant
External references:
5 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
NKX2-5 P52952600584
SCN1B Q07699600235
SCN5A Q14524600163
TRPM4 Q8TD43606936
- Cardiac rhythm disorder / arrhythmia