Septo-optic dysplasia

Disease ID:849
Name:Septo-optic dysplasia
Associated with:2 targets
Database Links
OMIM: 182230
Orphanet: ORPHA3157

Targets

PKR2
References:  1-2
Mutations:  PKR2 is associated with 5 mutation. Click here for details
fibroblast growth factor receptor 1

Ligands

No ligand related data available for Septo-optic dysplasia

References

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1. McCabe MJ, Gaston-Massuet C, Gregory LC, Alatzoglou KS, Tziaferi V, Sbai O, Rondard P, Masumoto KH, Nagano M, Shigeyoshi Y et al.. (2013) Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. J. Clin. Endocrinol. Metab., 98 (3): E547-57. [PMID:23386640]

2. Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V et al.. (2012) Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. J. Clin. Endocrinol. Metab., 97 (4): E694-9. [PMID:22319038]