Top ▲

Eiken syndrome

Disease ID:294
Name:Eiken syndrome
Associated with:1 target
Database Links
OMIM: 600002
Orphanet: ORPHA79106


PTH1 receptor
Comments:  A truncation mutation in the cytoplasmic tail of the PTH1 receptor has been identified to cause Eiken syndrome.
References:  1


No ligand related data available for Eiken syndrome


Show »

1. Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C. (2005) Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet, 14 (1): 1-5. [PMID:15525660]