Details of Disease | DrugMAP

General Information of Disease (ID: DIST27XL)

Disease Name	Orofaciodigital syndrome I
Synonyms	OFDSI; oral-facial-digital syndrome type 1; oral-facial-digital syndrome 1; oral-facial-digital syndrome, type 1; OFD1; orofaciodigital syndrome i, X-linked dominant; orofaciodigital syndrome type I; OFD syndrome 1; oral facial digital syndrome type 1; OFDI; orofaciodigital syndrome 1; orofaciodigital syndrome type 1; Papillon-Leage and Psaume syndrome; oral facial digital syndrome 1; Papillon-Lage-Psaume syndrome; Papillon-league-Psaume syndrome (formerly); orofaciodigital syndrome I; Papillon-Leage-Psaume syndrome; OFDS 1
Definition	A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYOKTG: Mendelian neurodevelopmental disorder DIS10G4I: Ciliopathy DIST27XL: Orofaciodigital syndrome I
Disease Identifiers	MONDO ID MONDO_0010702 MESH ID D009958 UMLS CUI C1510460 OMIM ID 311200 MedGen ID 307142 Orphanet ID 2750 SNOMED CT ID 763833006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDKL5	OTGL5HRV	Limited	Genetic Variation	[1]
SERPINA4	OTBK0GG7	Limited	Genetic Variation	[2]
TMEM107	OT9RMLBJ	Limited	Genetic Variation	[3]
C2CD3	OTC52E7V	Strong	Biomarker	[4]
DDX59	OTHJANS0	Strong	Genetic Variation	[5]
FAM149B1	OTUBPEJ6	Strong	Genetic Variation	[6]
HFM1	OTHV3EFE	Strong	Genetic Variation	[5]
IFT57	OTXYC20V	Strong	Biomarker	[7]
KIAA0753	OTMFT2I9	Strong	Genetic Variation	[8]
PCBD1	OTDSRUD5	Strong	Genetic Variation	[9]
SCLT1	OT2ZSSP4	Strong	Genetic Variation	[10]
SDCCAG8	OTV2ZGV9	Strong	Biomarker	[11]
OFD1	OTAZW5TK	Definitive	X-linked	[12]
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⏷ Show the Full List of 13 DOT(s)

References

1	Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.Genomics. 1998 Aug 1;51(3):427-33. doi: 10.1006/geno.1998.5391.
2	The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.Hum Mol Genet. 1997 Jul;6(7):1163-7. doi: 10.1093/hmg/6.7.1163.
3	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.
4	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.
5	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.
6	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.
7	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.
8	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.
9	Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.
10	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.
11	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.
12	Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease. Nephrol Dial Transplant. 1997 Jun;12(6):1247-50. doi: 10.1093/ndt/12.6.1247.