Orofaciodigital syndrome 1
|Orofaciodigital syndrome 1|
|Classification and external resources|
Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system.
Cause and Genetics
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 throughout the human body. The cilia defects adversely affect numerous critical developmental signaling pathways essential to cellular development.
Other types include:
- OMIM: 252100 Mohr syndrome; Orofaciodigital syndrome 2 at NIH's Office of Rare Diseases
- OMIM: 258860 Orofaciodigital syndrome 4 at NIH's Office of Rare Diseases
- OMIM: 300238 Orofaciodigital syndrome, Shashi type at NIH's Office of Rare Diseases
- OMIM: 277170 Varadi Papp syndrome; OFD6 at NIH's Office of Rare Diseases
Relation to other rare genetic disorders
Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically-observed disorders. Thus, orofaciodigital syndrome is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.
- GeneReview/NCBI/NIH/UW entry on Oral-Facial-Digital Syndrome Type I
- Orofaciodigital syndrome Thurston type at NIH's Office of Rare Diseases
- Orofaciodigital syndrome type 2 at NIH's Office of Rare Diseases
- Orofaciodigital syndrome Gabrielli type at NIH's Office of Rare Diseases
- OFD syndrome type Figuera at NIH's Office of Rare Diseases
- OFD syndrome type 8 at NIH's Office of Rare Diseases
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