Orofaciodigital Syndrome I (OFD1)

Alias:

Ofd1

Oral-Facial-Digital Syndrome, Type I

Orofaciodigital Syndrome Type 1

Orofaciodigital Syndrome 1

Oral-Facial-Digital Syndrome Type 1

Papillon-Leage and Psaume Syndrome

Papillon-Leage-Psaume Syndrome

Oral-Facial-Digital Syndrome 1

Orofaciodigital Syndromes

Ofds I

Ofdsi

Ofdi

Oral-Facial-Digital Syndrome Type I

Orofaciodigital Syndrome, Type I

Orofaciodigital Syndrome Type I

Papillon-Léage-Psaume Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Orofaciodigital Syndrome I, also known as ofd1, is related to simpson-golabi-behmel syndrome, type 2 and renal-hepatic-pancreatic dysplasia, and has symptoms including seizures An important gene associated with Orofaciodigital Syndrome I is OFD1 (OFD1 Centriole And Centriolar Satellite Protein), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. The drugs Sirolimus and Umirolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney and pancreas, and related phenotypes are frontal bossing and high palate

Related ID：

MALACARDS：ORF037

OMIM：311200

MESH：D009958