Orofaciodigital Syndromes (Orofaciodigital Syndrome)

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

Also Known As:

Orofaciodigital Syndrome; Syndrome, Mohr; Syndrome, Orofaciodigital; Dysplasia Linguofacialis; Oral-Facial-Digital Syndrome; Oral-Facial-Digital Syndrome, Type I; Oral-Facial-Digital Syndrome, Type II; Oro-Facio-Digital Syndrome; Orodigitofacial Dysostosis; Orodigitofacial Syndrome; Orofaciodigital Syndrome I; Orofaciodigital Syndrome II; Gorlin Psaume Syndrome; Oral Facial Digital Syndrome, Type I; Oral Facial Digital Syndrome, Type II; Orofaciodigital Syndrome IIs; Orofaciodigital Syndrome Is; Papillon Leage and Psaume Syndrome; Syndrome, Gorlin-Psaume; Syndromes, Orofaciodigital; Gorlin-Psaume Syndrome; Mohr Syndrome; Papillon-Leage and Psaume Syndrome

Networked: 43 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Ciliopathies
2.	Orofaciodigital Syndromes (Orofaciodigital Syndrome)
3.	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl)
4.	Meckel syndrome type 1
5.	Cystic Kidney Diseases (Cystic Kidney Disease)

Experts

1.	Marshall, Wallace F: 4 articles (02/2009 - 06/2005)
2.	Keller, Lani C: 3 articles (02/2009 - 06/2005)
3.	Brugmann, Samantha A: 2 articles (01/2022 - 08/2015)
4.	Chang, Ching-Fang: 2 articles (01/2022 - 08/2015)
5.	Saunier, Sophie: 2 articles (01/2016 - 06/2014)
6.	Thauvin-Robinet, Christel: 2 articles (01/2016 - 06/2011)
7.	Zamora, Ivan: 2 articles (02/2009 - 06/2005)
8.	Goto, Shinobu: 1 article (07/2022)
9.	Hassan, Esraa: 1 article (07/2022)
10.	Inagaki, Hiroshi: 1 article (07/2022)

Drugs and Biologics

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

1.	Proteins (Proteins, Gene)FDA Link 12/22/2019 - "The aim of the current study was to investigate the CNVs of four Y-linked genes, including, sex determining Region of Y-Chromosome (SRY), ubiquitously transcribed tetratricopeptide repeat gene protein on the chromosome Y (UTY), DEAD-box helicase 3 Y-linked (DDX3Y, also known as DBY), and oral-facial-digital syndrome 1 Y-linked (OFD1Y) in 254 swamp buffaloes from 15 populations distributed across China, Vietnam, and Laos using quantitative real-time PCR (qPCR). " 02/01/2016 - "TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome." 01/01/2016 - "To uncover candidate TZ genes, we employed bioinformatics (coexpression and co-evolution) and identified TMEM107 as a TZ protein mutated in oral-facial-digital syndrome and JBTS patients. " 08/01/2015 - "We found that, as in OFD-affected individuals, protein-protein interactions between C2CD3 and oral-facial-digital syndrome 1 protein (OFD1) are reduced in talpid(2) cells. " 06/21/2005 - "Three of the cross-validated centriole candidate proteins are encoded by orthologs of genes (OFD1, NPHP-4, and PACRG) implicated in mammalian ciliary function and disease, suggesting that oral-facial-digital syndrome and nephronophthisis may involve a dysfunction of centrioles and/or basal bodies. "
2.	PlasticsIBA 11/01/2015 - "Oral-facial-digital syndrome type I (OFDI) is an X-linked syndrome, which has several craniofacial and limb features; and hence, patients frequently present to craniofacial and plastic surgeons. " 12/01/1964 - "PLASTIC SURGICAL CORRECTION OF THE ORAL-FACIAL-DIGITAL SYNDROME." 11/01/2011 - "It was based on analysis of surgical treatment and rehabilitation of patients with: Down syndrome, oral-facial-digital syndrome and cerebral palsy, treated at the Department of Plastic, Reconstructive and Aesthetic Surgery, Medical University of Lodz. " 11/01/2011 - "63 patients (32 females and 31 males) with Down syndrome (60), oral-facial-digital syndrome (2) and cerebral palsy (1) were operated at the Department of Plastic, Reconstructive and Aesthetic Surgery, Medical University of Lodz, because of hypertrophy of the tongue. "
3.	LY 165163 (PAPP)IBA 09/25/2005 - "[25 years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI]." 10/01/1996 - "Prenatal diagnosis of orofaciodigital syndrome Varadi-Papp type." 01/01/2004 - "Here we present evidence that the MTS is seen together with polymicrogyria, Váradi-Papp syndrome (Orofaciodigital VI (OFD VI)), and a new syndrome with encephalocele and cortical renal cysts. "
4.	Sodium Channels (Sodium Channel)IBA 01/01/2017 - "Sodium channel and clathrin linker 1 (SCLT1) mutations were associated with the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy. " 05/29/2023 - "The sodium channel and clathrin linker 1 gene (SCLT1) has been involved in the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome, orofaciodigital syndrome type IX, and Senior-Løken syndrome. "
5.	Retinaldehyde (Retinal)IBA 08/15/1993 - "Oral-facial-digital syndrome and retinal abnormalities with autosomal recessive inheritance." 07/01/1999 - "Retinal hamartoma in oral-facial-digital syndrome."
6.	ClathrinIBA 01/01/2017 - "Sodium channel and clathrin linker 1 (SCLT1) mutations were associated with the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy. " 05/29/2023 - "The sodium channel and clathrin linker 1 gene (SCLT1) has been involved in the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome, orofaciodigital syndrome type IX, and Senior-Løken syndrome. "
7.	Ubiquitin-Specific ProteasesIBA 12/01/2019 - "Using male-specific primers and reverse transcription quantitative PCR, the ubiquitously transcribed tetratricopeptide repeat gene, Y-linked (UTY), oral-facial-digital syndrome 1, Y-linked (OFD1Y) and ubiquitin specific peptidase 9, Y-linked (USP9Y) genes were ubiquitously expressed and significantly more highly expressed in yattle than in cattle and yaks testes (P < 0.001). "
8.	Actin-Related Protein 2-3 Complex (Arp2 3 Complex)IBA 01/01/2023 - "We find that Oral-Facial-Digital syndrome 1 functions as a class II Nucleation promoting factor to promote Arp2/3 complex-mediated actin branching. "
9.	TRPP Cation ChannelsIBA 01/01/2020 - "Special focus is given on the impact of mutations and altered expression of ciliary genes (e.g., encoding polycystins, nephrocystins, Bardet-Biedl syndrome (BBS) proteins, ALS1, Oral-facial-digital syndrome 1 (OFD1) and others) in polycystic kidney disease and nephronophthisis, as well as rare genetic disorders, including syndromes of Joubert, Meckel-Gruber, Bardet-Biedl, Senior-Loken, Alström, Orofaciodigital syndrome type I and cranioectodermal dysplasia. "
10.	ProteomeIBA 02/01/2009 - "We found that two classes of ciliary disease genes were highly represented among the basal body proteome: cystic kidney disease (especially nephronophthisis) syndromes, including Meckel/Joubert-like and oral-facial-digital syndrome, caused by mutations in CEP290, MKS1, OFD1, and AHI1/Jouberin proteins and cone-rod dystrophy syndrome genes, including UNC-119/HRG4, NPHP4, and RPGR1. "

Therapies and Procedures

1.	Kidney Transplantation 06/01/2011 - "Outcome of kidney transplantation in type I oral-facial-digital syndrome."
2.	Anesthesia 11/30/2020 - "She surprisingly had pre and postaxial polydactyly of all the four limbs concurrent with syndromic face and most of the features of Orofaciodigital syndrome type II. Mohr syndrome, anesthesia and surgical considerations are discussed in this case report. "