2002年7月24日 · OFD1 is characterized by renal cystic disease in approximately 50% of individuals and by the X-linked inheritance pattern in families with more than one affected individual. Almost all individuals with OFD1 are female; however, a few …

Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease.

Orofaciodigital syndrome 1 (OFD1), also called Papillon-Léage and Psaume syndrome, [1] 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.

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

2012年2月21日 · Oral-facial-digital syndrome type I (OFDSI) is a multiple anomaly syndrome inherited as an X-linked dominant trait. OFDS1 is caused by defects in the OFD1 gene, which maps to Xp22.2. Almost all affected individuals are female, since the condition is almost always prenatally lethal in males.

2024年12月25日 · OFD1 (OFD1 Centriole And Centriolar Satellite Protein) is a Protein Coding gene. Diseases associated with OFD1 include Orofaciodigital Syndrome I and Retinitis Pigmentosa 23. Among its related pathways are Loss of proteins required for interphase microtubule organization from the centrosome and Cell Cycle, Mitotic.

2021年11月16日 · Oral-facial-digital syndrome (OFDS) is a group of conditions that affect the development of their oral cavity (mouth, tongue, teeth, and jaw), face (head, eyes and nose) and finger and toes (digits). Common signs and symptoms include a split (cleft) in the lip and a tongue with an unusual lobed shape.

Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene. [5][6][7] Human chromosomal region Xp22.3-p21.3 comprises the area between the pseudoautosomal boundary and the Duchenne muscular dystrophy gene (MIM 300377).

Orofaciodigital Syndrome (OFD) is a complex group of genetic disorders marked by malformations of the oral cavity, facial features, and digits. With numerous variations identified, understanding the nuances of OFD is crucial for timely diagnosis and appropriate intervention.

What is orofaciodigital syndrome type 1? Orofaciodigital syndrome type 1 (OMIM#311200) is a rare genetic disorder that affects females. It is characterised by malformations of the mouth, face and fingers/toes. It is also known as oral-facial-digital syndrome type 1, OFD1 and ‘Papillon-Léage and Psaume syndrome’.