Details of Disease | DrugMAP

General Information of Disease (ID: DISSB296)

Disease Name	Orofaciodigital syndrome
Synonyms	oral facial digital syndromes; oral-facial-digital syndromes; orofaciodigital syndromes; oral-facial-digital syndrome; Oral-Facial-Digital Syndrome; OFD; orofaciodigital syndrome
Definition	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.
Disease Hierarchy	DISYKSRF: Genetic disease DISDKTNW: Oromandibular-limb anomalies syndrome DISSB296: Orofaciodigital syndrome
Disease Identifiers	MONDO ID MONDO_0015375 MESH ID D009958 UMLS CUI C0029294 MedGen ID 14518 Orphanet ID 140997 SNOMED CT ID 52868006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 18 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCLT1	OT2ZSSP4	Limited	Genetic Variation	[1]
DDX59	OTHJANS0	moderate	Genetic Variation	[2]
FAM149B1	OTUBPEJ6	moderate	Genetic Variation	[3]
RAB18	OTNMAQLS	moderate	Biomarker	[4]
TBC1D32	OTR5NU7K	Moderate	Autosomal recessive	[5]
TMEM107	OT9RMLBJ	moderate	Genetic Variation	[6]
C2CD3	OTC52E7V	Strong	Genetic Variation	[7]
CPLANE1	OTXGGNNB	Strong	Genetic Variation	[8]
GYS2	OTCKIUYR	Strong	Biomarker	[8]
HFM1	OTHV3EFE	Strong	Genetic Variation	[2]
IFT57	OTXYC20V	Strong	Biomarker	[9]
KIAA0753	OTMFT2I9	Strong	Genetic Variation	[10]
OFD1	OTAZW5TK	Strong	Genetic Variation	[11]
PCBD1	OTDSRUD5	Strong	Genetic Variation	[12]
SDCCAG8	OTV2ZGV9	Strong	Biomarker	[13]
TBC1D20	OTDL1T6E	Strong	Biomarker	[14]
TCTN1	OTG5KEV8	Strong	Biomarker	[15]
TMEM231	OTF4UYIE	Strong	Genetic Variation	[16]
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⏷ Show the Full List of 18 DOT(s)

References

1	Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling.Hum Mol Genet. 2017 Aug 1;26(15):2949-2960. doi: 10.1093/hmg/ddx183.
2	Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.Eur J Med Genet. 2017 Oct;60(10):527-532. doi: 10.1016/j.ejmg.2017.07.009. Epub 2017 Jul 12.
3	Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. Am J Hum Genet. 2019 Apr 4;104(4):731-737. doi: 10.1016/j.ajhg.2019.02.018. Epub 2019 Mar 21.
4	ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18.Exp Neurol. 2015 May;267:143-51. doi: 10.1016/j.expneurol.2015.03.003. Epub 2015 Mar 13.
5	Confirming TBC1D32-related ciliopathy in humans. Am J Med Genet A. 2020 Aug;182(8):1985-1987. doi: 10.1002/ajmg.a.61717. Epub 2020 Jun 23.
6	Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development.J Dent Res. 2018 Jan;97(1):108-117. doi: 10.1177/0022034517732538. Epub 2017 Sep 27.
7	Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.Sci Rep. 2016 Apr 20;6:24083. doi: 10.1038/srep24083.
8	Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".Genet Med. 2019 Mar;21(3):608-612. doi: 10.1038/s41436-018-0082-9. Epub 2018 Jul 2.
9	Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.Clin Genet. 2016 Dec;90(6):509-517. doi: 10.1111/cge.12785. Epub 2016 Apr 29.
10	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. Hum Mol Genet. 2016 Feb 1;25(3):497-513. doi: 10.1093/hmg/ddv488. Epub 2015 Dec 7.
11	A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia.Am J Med Genet A. 2019 Jun;179(6):1010-1014. doi: 10.1002/ajmg.a.61018. Epub 2019 Mar 20.
12	Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.
13	Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12.
14	Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14.
15	Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI). Am J Med Genet A. 2017 Sep;173(9):2439-2441. doi: 10.1002/ajmg.a.38336. Epub 2017 Jun 20.
16	TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. J Cell Biol. 2015 Apr 13;209(1):129-42. doi: 10.1083/jcb.201411087.