- Orofaciodigital syndrome
Orofaciodigital syndrome type I (OFD1) is an "
X-linked disorder characterized by malformations of theface ,oral cavity , anddigits withpolycystic kidney disease and variable involvement of thecentral 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
centrosome s andbasal bodies within thehuman genetic cellular structure. This suggests that this syndrome may fall into a broad category of ciliary diseases. The ciliaryorganelle s are present in many cellular types througout thehuman 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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