Sick sinus syndrome 2

Preferred Label : Sick sinus syndrome 2;

Symbol : SSS2;

CISMeF acronym : SSS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Atrial fibrillation with bradyarrhythmia; Sinus node disease, familial, autosomal dominant; Sinus bradycardia syndrome, familial, autosomal dominant; Sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the hyperpolarization-activated cyclic nucleotide-gated potassium channel 4 gene (HCN4, 605206.0001);

Prefixed ID : #163800;

Details

Origin ID

163800;

UMLS CUI

C1834144;

Broader ORDO disease(s)
- Familial sick sinus syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- sick sinus syndrome 2, autosomal dominant [MeSH concept]
- sick sinus syndrome 2, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- sick sinus syndrome [DO Concept]
Genes related to phenotype
- Hyperpolarization-activated cyclic nucleotide-gated potassium channel 4 [OMIM gene]
HPO term(s)
- Aortic regurgitation [HPO term]
- Atrial fibrillation [HPO term]
- Atrial fibrillation may occur [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiac arrest [HPO term]
- Congenital onset [HPO term]
- Left ventricular hypertrophy [HPO term]
- Left ventricular noncompaction [HPO term]
- Mitral valve prolapse [HPO term]
- Onset in utero [HPO term]
- Sick sinus syndrome [HPO term]
- Sinus bradycardia [HPO term]
- Sinus bradycardia, isolated [HPO term]
- Ventricular fibrillation [HPO term]
ORDO concept(s)
- Familial sick sinus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- sick sinus syndrome 2, autosomal dominant [MeSH Supplementary Concept]
- sick sinus syndrome 2, autosomal dominant [MeSH concept]
- sick sinus syndrome type 2 [Disease (Nov.)]

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