OFDS
MCID: ORF001
MIFTS: 45

Orofaciodigital Syndrome (OFDS) malady

Oral category

Summaries for Orofaciodigital Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 joubert syndrome and polydactyly. 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, tongue and pituitary, 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:64 Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked... more...

Description from OMIM:47 311200

Aliases & Classifications for Orofaciodigital Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 61UMLS, 22GTR, 47OMIM, 35MeSH
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Classifications:

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


Aliases & Descriptions:

orofaciodigital syndrome 8 43 21 10
oral-facial-digital syndromes 43 22
orofaciodigital syndromes 43 61
papillon-leage and psaume syndrome 8
oral facial digital syndromes 43
oral-facial-digital syndrome 21
oro-facio-digital syndrome 21
orodigitofacial dysostosis 21
orofaciodigital syndrome i 61
dysplasia linguofacialis 21
orodigitofacial syndrome 21
ofds 21


External Ids:

Disease Ontology8 DOID:4501
OMIM47 311200
MeSH35 D009958

Related Diseases for Orofaciodigital Syndrome

Sources:
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 top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome30.1OFD1, CEP290
2polydactyly30.0EVC2, TCTN3, OFD1, CEP290
3polycystic kidney disease30.0OFD1, IFT88, KIF3A
4oral-facial-digital syndrome type i10.6
5orofaciodigital syndrome 610.5
6n syndrome10.5
7orofaciodigital syndrome 410.5
8orofaciodigital syndrome 810.5
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
17oculodentodigital dysplasia10.2
18dandy-walker syndrome10.2
19cystadenoma10.2
20hydronephrosis10.2
21coloboma10.2
22pallister-hall syndrome10.2
23cleft palate10.2
24conn's syndrome10.2
25hydrolethalus syndrome10.2
26alopecia10.2
27bile duct cystadenoma10.2
28micro syndrome10.2
29cleft tongue10.2
30bile duct cysts10.2
31precocious puberty10.2
32fibular aplasia10.2
33werdnig-hoffman disease10.2
34short stature10.2
35congenital hydronephrosis10.2
36vaginal atresia10.2
37kid syndrome10.2
38orofaciodigital syndrome type 1410.2
39pituitary hypoplasia10.0
40beemer-langer syndrome10.0
41adult syndrome10.0
42short syndrome10.0
43corpus callosum agenesis10.0
44sugarman brachydactyly10.0
45cerebellar hypoplasia10.0
46familial porencephaly10.0
47porencephaly10.0
48ofd1-related joubert syndrome10.0
49joubert syndrome 1010.0
50rhyns syndrome10.0RPGR

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



Diseases related to orofaciodigital syndrome

Clinical Features for Orofaciodigital Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

311200

Drugs & Therapeutics for Orofaciodigital Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Orofaciodigital Syndrome

Search CenterWatch for Orofaciodigital Syndrome

Genetic Tests for Orofaciodigital Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Orofaciodigital Syndrome:

33
Kidney, Tongue, Pituitary

Animal Models for Orofaciodigital Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Orofaciodigital Syndrome

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51PubMed
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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

Expression for genes affiliated with Orofaciodigital Syndrome

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

Search GEO for disease gene expression data for Orofaciodigital Syndrome.

Pathways for genes affiliated with Orofaciodigital Syndrome

Sources:
54Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Orofaciodigital Syndrome

GO Terms for genes affiliated with Orofaciodigital Syndrome

Sources:
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:0059298.9IFT88, EVC2, OFD1
4photoreceptor connecting ciliumGO:0323918.7IFT88, KIF3A, CEP290
5microtubule basal bodyGO:0059328.5CEP290, IFT88, OFD1, EVC2
6centrosomeGO:0058138.3CEP290, RPGR, KIF3A, OFD1

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

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

Products for genes affiliated with Orofaciodigital Syndrome

  • Antibodies
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Sources for Orofaciodigital Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet