Sinus node disease and myopia

General Information (adopted from Orphanet):

Synonyms, Signs: SSS-myopia syndrome
Sick sinus syndrome and myopia
Number of Symptoms 13
OrphanetNr:
OMIM Id: 182190
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
3943873 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial sick sinus syndrome
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Sinus node disease and myopia is a sub-type of familial sick sinus syndrome.

Symptom Information: Sort by abundance 

1
 (HPO:0000483) Astigmatism 3943873 IBIS 67 / 7739
2
 (HPO:0000610) Abnormality of the choroid 3943873 IBIS 11 / 7739
3
 (HPO:0000545) Myopia Very frequent [IBIS] 3943873 IBIS 286 / 7739
4
 (HPO:0011675) Arrhythmia Very frequent [IBIS] 3943873 IBIS 226 / 7739
5
 (HPO:0011704) Sick sinus syndrome Very frequent [IBIS] 3943873 IBIS 6 / 7739
6
 (HPO:0005110) Atrial fibrillation 3943873 IBIS 71 / 7739
7
 (HPO:0004749) Atrial flutter 3943873 IBIS 20 / 7739
8
 (HPO:0005155) Ventricular escape rhythms 3943873 IBIS 4 / 7739
9
 (HPO:0001678) Atrioventricular block 3943873 IBIS 59 / 7739
10
 (HPO:0001695) Cardiac arrest 3943873 IBIS 87 / 7739
11
 (HPO:0002321) Vertigo 3943873 IBIS 58 / 7739
12
 (HPO:0001269) Hemiparesis 3943873 IBIS 51 / 7739
13
 (HPO:0001596) Alopecia 3943873 IBIS 162 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
HCN4 rs786205259 likely pathogenic RCV000171563.1
SCN5A rs137854601 pathogenic RCV000009974.2

Additional Information: