Orofaciodigital syndrome

Orofaciodigital syndrome type I (OFD1) is an "X-linked disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system." cite journal
author=Badano JL, Mitsuma N, Beales PL, Katsanis N |title=The ciliopathies: an emerging class of human genetic disorders |journal=Annu Rev Genomics Hum Genet |volume=7 |issue= |pages=125–48 |year=2006 |pmid=16722803 |doi=10.1146/annurev.genom.7.080505.115610 |url=http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.genom.7.080505.115610]

It is identified in the "Mendelian Inheritance in Man" database as OMIM3|311200.

Pathophysiology

Orofaciodigital syndrome type 1 is caused by mutations in the OFD1 gene. OFD1 localizes to both centrosomes and basal bodies within the human genetic cellular structure. This suggests that this syndrome may fall into a broad category of ciliary diseases. The ciliary organelles are present in many cellular types througout the human body. The cilia defects adversely affect numerous critical developmental signaling pathways essential to cellular development.

References

External Links

*OMIM3|258860 RareDiseases|816|Orofaciodigital syndrome 4
*OMIM3|311200 RareDiseases|4121|Orofaciodigital syndrome type 1
*OMIM3|300238 RareDiseases|4119|Orofaciodigital syndrome, Shashi type
*OMIM3|277170 RareDiseases|5458|Varadi Papp syndrome; OFD6
*OMIM3|252100 RareDiseases|3701|Mohr syndrome; Orofaciodigital syndrome 2
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