OFDS
MCID: ORF001
MIFTS: 47

Orofaciodigital Syndrome (OFDS) malady

Oral diseases category

Summaries for Orofaciodigital Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Orofaciodigital syndromes refers to numerous conditions in which the oral cavity (mouth, tongue, teeth, and jaw), facial structures (head, eyes, and nose), and digits (fingers and toes) may be formed differently. when changes happen to many different parts of the body, this is called a syndrome. the literature reports up to thirteen types of orofaciodigital syndrome, but research is necessary to confirm and clarify all of these types. for most of the types the exact cause of the condition is unknown. click here to read this and more by visiting an information page on this topic developed by the national human genome research institute.see below for a list of orofaciodigital syndromes. these types are defined by certain symptoms or characteristics in addition to the those affecting the oral cavity, facial structures, and digits. click on the embedded links to learn more about each type: orofaciodigital syndrome 1        orofaciodigital syndrome 8  orofaciodigital syndrome 2        orofaciodigital syndrome 9orofaciodigital syndrome 3        orofaciodigital syndrome 10 orofaciodigital syndrome 4        orofaciodigital syndrome 11 orofaciodigital syndrome 5        orofaciodigital syndrome 12orofaciodigital syndrome 6        orofaciodigital syndrome 13orofaciodigital syndrome 7**now considered identical to type 1                                         last updated: 2/17/2010

MalaCards: Orofaciodigital Syndrome, also known as oral-facial-digital syndromes, is related to cystic kidney and joubert syndrome. An important gene associated with Orofaciodigital Syndrome is TCTN3 (tectonic family member 3), and among its related pathways are Recruitment of mitotic centrosome proteins and complexes and Endochondral Ossification. Affiliated tissues include kidney, eye and tongue, and related mouse phenotypes are digestive/alimentary and renal/urinary system.

Disease Ontology:8 A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has material basis in x-linked inheritance of an ofd gene.

Genetics Home Reference:21 Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).

Wikipedia:63 Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked... more...

Description from OMIM:46 311200

Aliases & Classifications for Orofaciodigital Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 60UMLS, 46OMIM, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Oral diseases


Aliases & Descriptions:

orofaciodigital syndrome 8 42 21 10
oral-facial-digital syndromes 42 22
orofaciodigital syndromes 42 60
papillon-leage and psaume syndrome 8
oral facial digital syndromes 42
oral-facial-digital syndrome 21
oro-facio-digital syndrome 21
orodigitofacial dysostosis 21
orofaciodigital syndrome i 60
dysplasia linguofacialis 21
orodigitofacial syndrome 21
ofds 21


External Ids:

Disease Ontology8 DOID:4501
OMIM46 311200
MeSH34 D009958

Related Diseases for Orofaciodigital Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Orofaciodigital Syndrome 8 family:

orofaciodigital syndrome Orofaciodigital Syndrome 4
Orofaciodigital Syndrome 6 Orofaciodigital Syndrome 13
Orofaciodigital Syndrome 11 Orofaciodigital Syndrome 2
Orofaciodigital Syndrome 12 Orofaciodigital Syndrome 10
Orofaciodigital Syndrome 3 Orofaciodigital Syndrome 5
Orofaciodigital Syndrome 9 Orofaciodigital Syndrome Type 14

Diseases related to Orofaciodigital Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1cystic kidney30.5CEP290, OFD1, IFT88, KIF3A
2joubert syndrome30.1OFD1, CEP290
3polydactyly30.0EVC2, TCTN3, OFD1, CEP290
4polycystic kidney disease30.0OFD1, IFT88, KIF3A
5oral-facial-digital syndrome type i10.6
6orofaciodigital syndrome 610.5
7orofaciodigital syndrome 410.4
8orofaciodigital syndrome 810.4
9orofaciodigital syndrome 1110.4
10orofaciodigital syndrome 210.4
11orofaciodigital syndrome 1010.4
12orofaciodigital syndrome 510.4
13orofaciodigital syndrome 910.4
14orofaciodigital syndrome 310.4
15orofaciodigital syndrome 1310.3
16orofaciodigital syndrome 1210.3
17dysostosis10.2
18dandy-walker syndrome10.2
19ellis-van creveld syndrome10.2
20hydronephrosis10.2
21coloboma10.2
22pallister-hall syndrome10.2
23cleft palate10.2
24hydrolethalus syndrome10.2
25alopecia10.2
26congenital heart defect10.2
27liver disease10.2
28pancreas disease10.2
29pancreatitis10.2
30vaginitis10.2
31x-linked disease10.2
32orofaciodigital syndrome type 1410.2
33pituitary hypoplasia10.0
34cerebritis10.0
35cleft lip10.0
36beemer-langer syndrome10.0
37adult syndrome10.0
38kidney disease10.0
39ophthalmoplegia10.0
40sugarman brachydactyly10.0
41ofd1-related joubert syndrome10.0
42joubert syndrome 1010.0
43rhyns syndrome10.0RPGR
44cone-rod dystrophy 210.0RPGR
45leber congenital amaurosis10.0RPGR, CEP290
46fundus dystrophy10.0CEP290, RPGR
47nephronophthisis10.0RPGR, OFD1, CEP290
48bardet-biedl syndrome10.0IFT88, CEP290

Graphical network of the top 20 diseases related to Orofaciodigital Syndrome:



Diseases related to orofaciodigital syndrome

Clinical Features for Orofaciodigital Syndrome

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46OMIM
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Clinical features from OMIM:

311200

Drugs & Therapeutics for Orofaciodigital Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Orofaciodigital Syndrome

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22GTR
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Genetic tests related to Orofaciodigital Syndrome:

id Genetic test Affiliating Genes
1 Oral-Facial-Digital Syndrome22

Anatomical Context for Orofaciodigital Syndrome

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32MalaCards
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MalaCards organs/tissues related to Orofaciodigital Syndrome:

32
Kidney, Eye, Tongue, Pituitary

Animal Models for Orofaciodigital Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Orofaciodigital Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.3KIF3A, CLPS, OFD1, IFT88
2MP:00053678.3IFT88, OFD1, KIF3A, CEP290
3MP:00053718.2EVC2, KIF3A, OFD1, IFT88
4MP:00053918.1RPGR, IFT88, KIF3A, CEP290
5MP:00053787.8CEP290, KIF3A, CLPS, OFD1, IFT88
6MP:00053907.8IFT88, OFD1, KIF3A, EVC2, CEP290
7MP:00036317.5RPGR, IFT88, OFD1, KIF3A, CEP290
8MP:00053827.4CEP290, EVC2, KIF3A, CLPS, OFD1, IFT88

Publications for Orofaciodigital Syndrome

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50PubMed
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Articles related to Orofaciodigital Syndrome:

(show all 37)
idTitleAuthorsYear
1
Rare case of orofaciodigital syndrome type I. (23417374)
2013
2
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. (23972372)
2013
3
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: A study of the extensive clinical variability. (23033313)
2013
4
Orofaciodigital syndrome. (22278878)
2012
5
Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals. (23716954)
2012
6
Bilateral cleft lip: a potential variant form of orofaciodigital syndrome type II? (22705220)
2012
7
Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. (18383484)
2008
8
Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I. (18177199)
2007
9
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. (17535085)
2007
10
Orofaciodigital syndrome with cerebral dysgenesis. (16502430)
2006
11
Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly. (11438951)
2001
12
Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome? (10051020)
1999
13
Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. (10422014)
1999
14
Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease. (9175067)
1997
15
Prenatal diagnosis of orofaciodigital syndrome Varadi-Papp type. (8887243)
1996
16
Orofaciodigital syndrome I: a case report. (9151628)
1996
17
Prenatal diagnosis of orofaciodigital syndrome: Mohr type. (8551554)
1995
18
Orofaciodigital syndrome type I in a patient with severe CNS defects. (8554663)
1995
19
Midline defects of the orofaciodigital syndrome type VI (VA!radi syndrome). (7986801)
1994
20
Orofaciodigital syndrome type III in two sibs. (8230165)
1993
21
Renal cystic disease associated with orofaciodigital syndrome. (1539404)
1992
22
Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis. (1453437)
1992
23
Orofaciodigital syndrome type IV: report of a patient. (1642284)
1992
24
Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome. (1867273)
1991
25
Variability of expression of the orofaciodigital syndrome type I in black females: six cases. (2063902)
1991
26
A male with type I orofaciodigital syndrome. (1941964)
1991
27
Orofaciodigital syndrome type IV: report of a patient. (2929654)
1989
28
X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males. (3229001)
1988
29
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum. (3560170)
1987
30
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. (3560172)
1987
31
Orofaciodigital syndrome with mesomelic limb shortening. (6748015)
1984
32
Letter: Orofaciodigital syndrome. (949866)
1976
33
Orofaciodigital syndrome, type I: a phenotypic and genetic analysis. (1059061)
1975
34
Orofaciodigital syndrome II (OFD II) in brother and sister. (5173223)
1971
35
Orofaciodigital syndrome I (OFD I). (5173222)
1971
36
THE OROFACIODIGITAL SYNDROME. (14210673)
1964
37
OROFACIODIGITAL SYNDROME IN A MALE: CASE REPORT. (14089819)
1963

Genetic Variations for Orofaciodigital Syndrome

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Expression for genes affiliated with Orofaciodigital Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Orofaciodigital Syndrome

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Pathways for genes affiliated with Orofaciodigital Syndrome

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53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Orofaciodigital Syndrome

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GO Terms for genes affiliated with Orofaciodigital Syndrome

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16Gene Ontology
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Cellular components related to Orofaciodigital Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1centrioleGO:0058149.6OFD1, IFT88
2cilium axonemeGO:0350859.2IFT88, RPGR
3ciliumGO:0059298.9EVC2, OFD1, IFT88
4photoreceptor connecting ciliumGO:0323918.7CEP290, KIF3A, IFT88
5microtubule basal bodyGO:0059328.5CEP290, EVC2, OFD1, IFT88
6centrosomeGO:0058138.3RPGR, OFD1, KIF3A, CEP290

Biological processes related to Orofaciodigital Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1G2/M transition of mitotic cell cycleGO:0000869.6CEP290, OFD1
2eye photoreceptor cell developmentGO:0424629.5CEP290, RPGR
3determination of left/right symmetryGO:0073689.0KIF3A, IFT88
4cilium morphogenesisGO:0602718.9CEP290, TCTN3, OFD1, IFT88
5anterior/posterior pattern specificationGO:0099528.8KIF3A, IFT88
6cilium assemblyGO:0423848.7RPGR, KIF3A, CEP290
7smoothened signaling pathwayGO:0072248.3EVC2, TCTN3, KIF3A, IFT88

Products for genes affiliated with Orofaciodigital Syndrome

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Sources for Orofaciodigital Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
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40NDF-RT
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57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet