| H00454 | |
| H number | H00454 |
| Name | Oral-facial-digital syndrome |
| Description | Oral-facial-digital syndrome is a group of heterogeneous disorders characterized by malformations of the face, oral cavity and digits. OFD type I is a male lethal disorder and due to mutations in the OFD1 gene on the X chromosome. OFD type IV is due to mutations in the TCTN3 gene and patients have tibial dysplasia. OFD type V is due to mutations in the DDX59 gene and patients show the core features of cleft palate, lobulated tongue, and polydactyly. |
| Category | Congenital malformation |
| Network | - |
| Gene | (OFD1) OFD1 [HSA:8481] [KO:K16480] (OFD4) TCTN3 [HSA:26123] [KO:K19382] (OFD5) DDX59 [HSA:83479] [KO:K19466] (OFD6) CPLANE1 [HSA:65250] [KO:K22859] (OFD14) C2CD3 [HSA:26005] [KO:K16751] (OFD15) JBTS38 [HSA:9851] [KO:K21765] (OFD16) TMEM107 [HSA:84314] [KO:K22764] (OFD17) INTU [HSA:27152] [KO:K22862] (OFD18) IFT57 [HSA:55081] [KO:K04638] (OFD19) SCNM1 [HSA:79005] [KO:K24827] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD25.00 ICD-10: Q87.0 MeSH: D009958 OMIM: 311200 258860 174300 277170 615948 617127 617563 617926 617927 620107 |
| Reference | PMID:19876934 AUTHORS Macca M, Franco B TITLE The molecular basis of oral-facial-digital syndrome, type 1. JOURNAL Am J Med Genet C Semin Med Genet 151C:318-25 (2009) DOI:10.1002/ajmg.c.30224 PMID:23523602 AUTHORS Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attie-Bitach T, Thauvin-Robinet C TITLE Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. JOURNAL Eur J Med Genet 56:301-8 (2013) DOI:10.1016/j.ejmg.2013.03.004 PMID:11179005 (OFD1) AUTHORS Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B TITLE Identification of the gene for oral-facial-digital type I syndrome. JOURNAL Am J Hum Genet 68:569-76 (2001) DOI:10.1086/318802 PMID:22883145 (OFD4) AUTHORS Thomas S, Legendre M, Saunier S, Bessieres B, Alby C, Bonniere M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attie-Bitach T TITLE TCTN3 mutations cause Mohr-Majewski syndrome. JOURNAL Am J Hum Genet 91:372-8 (2012) DOI:10.1016/j.ajhg.2012.06.017 PMID:23972372 (OFD5) AUTHORS Shamseldin HE, Rajab A, Alhashem A, Shaheen R, Al-Shidi T, Alamro R, Al Harassi S, Alkuraya FS TITLE Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. JOURNAL Am J Hum Genet 93:555-60 (2013) DOI:10.1016/j.ajhg.2013.07.012 PMID:24178751 (OFD6) AUTHORS Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noel C, Shboul M, Ho L, Guven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Riviere JB, Faivre L, Attie-Bitach T TITLE C5orf42 is the major gene responsible for OFD syndrome type VI. JOURNAL Hum Genet 133:367-77 (2014) DOI:10.1007/s00439-013-1385-1 PMID:24997988 (OFD14) AUTHORS Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Perez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, Thevenon J, Gonzalez-Granero S, Alby C, Munnich A, Vekemans M, Huet F, Fry AM, Saunier S, Riviere JB, Attie-Bitach T, Garcia-Verdugo JM, Faivre L, Megarbane A, Nachury MV TITLE The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. JOURNAL Nat Genet 46:905-11 (2014) DOI:10.1038/ng.3031 PMID:26643951 (OFD15) AUTHORS Chevrier V, Bruel AL, Van Dam TJ, Franco B, Lo Scalzo M, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, Riviere JB, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C TITLE OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. JOURNAL Hum Mol Genet 25:497-513 (2016) DOI:10.1093/hmg/ddv488 PMID:26595381 (OFD16) AUTHORS Lambacher NJ, Bruel AL, van Dam TJ, Szymanska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Riviere JB, Faivre L, Attie-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE TITLE TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. JOURNAL Nat Cell Biol 18:122-31 (2016) DOI:10.1038/ncb3273 PMID:27158779 (OFD17) AUTHORS Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, Duffourd Y, Faivre L, Riviere JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB TITLE The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. JOURNAL Nat Genet 48:648-56 (2016) DOI:10.1038/ng.3558 PMID:27060890 (OFD18) AUTHORS Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Riviere JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C TITLE Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. JOURNAL Clin Genet 90:509-517 (2016) DOI:10.1111/cge.12785 PMID:36084634 (OFD19) AUTHORS Iturrate A, Rivera-Barahona A, Flores CL, Otaify GA, Elhossini R, Perez-Sanz ML, Nevado J, Tenorio-Castano J, Trivino JC, Garcia-Gonzalo FR, Piceci-Sparascio F, De Luca A, Martinez L, Kalayci T, Lapunzina P, Altunoglu U, Aglan M, Abdalla E, Ruiz-Perez VL TITLE Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia. JOURNAL Am J Hum Genet 109:1828-1849 (2022) DOI:10.1016/j.ajhg.2022.08.009 |