KEGG DISEASE: Orofaciodigital 症候群

DISEASE: Orofaciodigital 症候群

エントリ

H00454

名称

Orofaciodigital 症候群;
口顔指症候群

概要

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.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD25  主な特徴として顔面または肢の異常を伴う症候群
    H00454  Orofaciodigital 症候群

病因遺伝子

(OFD1) OFD1 [HSA:8481] [KO:K16480]
(OFD2) NEK1 [HSA:4750] [KO:K08857]
(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]
(OFD20) RAB34 [HSA:83871] [KO:K07921]
(OFD21) ZRSR2 [HSA:8233] [KO:K24273]

リンク

ICD-11:

LD25.00

MeSH:

D009958

OMIM:

311200 252100 258860 174300 277170 615948 617127 617563 617926 617927 620107 620718 301132

文献

PMID:19876934

著者

Macca M, Franco B

タイトル

The molecular basis of oral-facial-digital syndrome, type 1.

雑誌

Am J Med Genet C Semin Med Genet 151C:318-25 (2009)
DOI:10.1002/ajmg.c.30224

文献

PMID:23523602

著者

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

タイトル

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

雑誌

Eur J Med Genet 56:301-8 (2013)
DOI:10.1016/j.ejmg.2013.03.004

文献

PMID:11179005 (OFD1)

著者

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

タイトル

Identification of the gene for oral-facial-digital type I syndrome.

雑誌

Am J Hum Genet 68:569-76 (2001)
DOI:10.1086/318802

文献

PMID:27530628 (OFD2)

著者

Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G

タイトル

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).

雑誌

Eur J Hum Genet 24:1752-1760 (2016)
DOI:10.1038/ejhg.2016.103

文献

PMID:22883145 (OFD4)

著者

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

タイトル

TCTN3 mutations cause Mohr-Majewski syndrome.

雑誌

Am J Hum Genet 91:372-8 (2012)
DOI:10.1016/j.ajhg.2012.06.017

文献

PMID:23972372 (OFD5)

著者

Shamseldin HE, Rajab A, Alhashem A, Shaheen R, Al-Shidi T, Alamro R, Al Harassi S, Alkuraya FS

タイトル

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.

雑誌

Am J Hum Genet 93:555-60 (2013)
DOI:10.1016/j.ajhg.2013.07.012

文献

PMID:24178751 (OFD6)

著者

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

タイトル

C5orf42 is the major gene responsible for OFD syndrome type VI.

雑誌

Hum Genet 133:367-77 (2014)
DOI:10.1007/s00439-013-1385-1

文献

PMID:24997988 (OFD14)

著者

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

タイトル

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

雑誌

Nat Genet 46:905-11 (2014)
DOI:10.1038/ng.3031

文献

PMID:26643951 (OFD15)

著者

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

タイトル

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.

雑誌

Hum Mol Genet 25:497-513 (2016)
DOI:10.1093/hmg/ddv488

文献

PMID:26595381 (OFD16)

著者

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

タイトル

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

雑誌

Nat Cell Biol 18:122-31 (2016)
DOI:10.1038/ncb3273

文献

PMID:27158779 (OFD17)

著者

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

タイトル

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

雑誌

Nat Genet 48:648-56 (2016)
DOI:10.1038/ng.3558

文献

PMID:27060890 (OFD18)

著者

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

タイトル

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

雑誌

Clin Genet 90:509-517 (2016)
DOI:10.1111/cge.12785

文献

PMID:36084634 (OFD19)

著者

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

タイトル

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.

雑誌

Am J Hum Genet 109:1828-1849 (2022)
DOI:10.1016/j.ajhg.2022.08.009

文献

PMID:37384395 (OFD20)

著者

Bruel AL, Ganga AK, Noskova L, Valenzuela I, Martinovic J, Duffourd Y, Zikanova M, Majer F, Kmoch S, Mohler M, Sun J, Sweeney LK, Martinez-Gil N, Thauvin-Robinet C, Breslow DK

タイトル

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.

雑誌

Hum Mol Genet 32:2822-2831 (2023)
DOI:10.1093/hmg/ddad109

文献

PMID:38158857 (OFD21)

著者

Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Perez Millan MI, Pezzella N, Pelgrims E, Aerden M, Bauters M, Rochtus A, Scaglia P, Swillen A, Sifrim A, Tammaro R, Mau-Them FT, Odent S, Thauvin-Robinet C, Franco B, Breckpot J

タイトル

Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.

雑誌

Genet Med 26:101059 (2024)
DOI:10.1016/j.gim.2023.101059

LinkDB

» English version

DBGET integrated database retrieval system