Orofaciodigital syndrome type1

A hereditary, X-linked dominant, orofaciodigital syndrome characterized by oral, facial, and digital malformations. Affected individuals may also have POLYCYSTIC KIDNEY DISEASE; cardiac, and liver abnormalities, as well as neurologic involvement and intellectual disability. It is caused by mutations in the OFD1 gene. OMIM: 311200

Also Known As:

Oral-facial-digital syndrome, type 1; Papillon-League-Psaume syndrome

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Cysts
2.	Renal cysts and diabetes syndrome

Experts

1.	Bingham, Coralie: 1 article (04/2002)
2.	Feather, Sally A: 1 article (04/2002)
3.	Woolf, Adrian S: 1 article (04/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Orofaciodigital syndrome type1:

Hepatocyte Nuclear Factor 1-betaIBA

04/01/2002 - "In this review, we highlight recent insights into three types of disease associated with glomerular cysts: (1) mutations of the hepatocyte nuclear factor 1beta (HNF-1beta)in the recently described renal cysts and diabetes syndrome, (2) mutations of OFD1in the oral facial digital syndrome type 1 and (3) the role of fetal urinary tract obstruction."