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Eiken syndrome
1 OMIM reference -
1 associated gene
13 connected diseases
No signs/symptoms info
Disease Type of connection
Chondrodysplasia, Blomstrand type
Dental ankylosis
Enchondromatosis
Metaphyseal chondrodysplasia, Jansen type
Brachydactyly type E
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Familial isolated hypoparathyroidism due to impaired PTH secretion
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Catecholaminergic polymorphic ventricular tachycardia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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
PTH1R Q03431168468
No signs/symptoms info available.