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Sinoatrial node dysfunction and deafness
1 OMIM reference -
1 associated gene
14 connected diseases
No signs/symptoms info
Disease Type of connection
Aldosterone-producing adenoma with seizures and neurological abnormalities
Antley-Bixler syndrome
Apert syndrome
Crouzon disease
Cutis gyrata - acanthosis nigricans - craniosynostosis
Cystic fibrosis
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Jackson-Weiss syndrome
Lacrimo-auriculo-dento-digital syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Saethre-Chotzen syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CACNA1D Q01668114206
No signs/symptoms info available.