MCID: ORF001
MIFTS: 43

Orofaciodigital Syndrome malady

Categories: Genetic diseases, Rare diseases, Oral diseases, Neuronal diseases, Bone diseases, Fetal diseases, Ear diseases, Respiratory diseases, Eye diseases, Nephrological diseases

Aliases & Classifications for Orofaciodigital Syndrome

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Aliases & Descriptions for Orofaciodigital Syndrome:

Name: Orofaciodigital Syndrome 11 46 24 13
Orofaciodigital Syndromes 46 25 66
Oral-Facial-Digital Syndrome 24 25
Oral-Facial-Digital Syndromes 46
Oral Facial Digital Syndromes 46
Oro-Facio-Digital Syndrome 24
 
Orofaciodigital Syndrome I 66
Orodigitofacial Dysostosis 24
Dysplasia Linguofacialis 24
Orodigitofacial Syndrome 24
Ofds 24

Classifications:



External Ids:

Disease Ontology11 DOID:4501
MeSH37 D009958

Summaries for Orofaciodigital Syndrome

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NIH Rare Diseases:46 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 based summary: Orofaciodigital Syndrome, also known as orofaciodigital syndromes, is related to orofaciodigital syndrome i and orofaciodigital syndrome vi, and has symptoms including seizures and seizures. An important gene associated with Orofaciodigital Syndrome is OFD1 (OFD1, Centriole And Centriolar Satellite Protein), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, eye and tongue, and related mouse phenotype limbs/digits/tail.

Disease Ontology:11 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:24 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).

Related Diseases for Orofaciodigital Syndrome

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Diseases in the Orofaciodigital Syndrome family:

Orofaciodigital Syndrome V Orofaciodigital Syndrome Vi
Orofaciodigital Syndrome Iv Orofaciodigital Syndrome Xiv
Orofaciodigital Syndrome I Orofaciodigital Syndrome Ix
Orofaciodigital Syndrome Xi Orofaciodigital Syndrome Viii
Orofaciodigital Syndrome Iii Orofaciodigital Syndrome X
Orofaciodigital Syndrome Vii Orofaciodigital Syndrome 13
Orofaciodigital Syndrome 12

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

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1orofaciodigital syndrome i12.3
2orofaciodigital syndrome vi12.2
3orofaciodigital syndrome v12.2
4orofaciodigital syndrome iv12.2
5orofaciodigital syndrome xiv12.1
6orofaciodigital syndrome x12.0
7orofaciodigital syndrome ix12.0
8orofaciodigital syndrome viii12.0
9orofaciodigital syndrome xi12.0
10orofaciodigital syndrome iii12.0
11orofaciodigital syndrome 1311.9
12orofaciodigital syndrome 1211.9
13orofaciodigital syndrome vii11.9
14mohr syndrome11.4
15joubert syndrome with orofaciodigital defect11.1
16polydactyly cleft lip palate psychomotor retardation11.1
17sugarman brachydactyly10.8
18oculodentodigital dysplasia10.1
19dysostosis10.1
20kidney disease10.0
21porencephaly9.9
22polydactyly9.9
23cerebritis9.9
24polycystic kidney disease9.9
25cleft lip9.9
26progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 49.6C2CD3, TCTN3
27acrofacial dysostosis8.9C5orf42, OFD1, TCTN3
28kat6b-related disorders8.7C5orf42, OFD1, TCTN3
29epileptic encephalopathy, early infantile, 148.6C2CD3, C5orf42, OFD1, TCTN3
30pediatric angiosarcoma7.6C2CD3, C5orf42, DDX59, OFD1, SCLT1, TCTN3

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



Diseases related to orofaciodigital syndrome

Symptoms for Orofaciodigital Syndrome

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UMLS symptoms related to Orofaciodigital Syndrome:


seizures

Drugs & Therapeutics for Orofaciodigital Syndrome

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Drugs for Orofaciodigital Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotype and Etiology of Pallister-Hall SyndromeCompletedNCT00001404
2Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 GeneRecruitingNCT01962129
3Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224
4UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998

Search NIH Clinical Center for Orofaciodigital Syndrome

Genetic Tests for Orofaciodigital Syndrome

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Genetic tests related to Orofaciodigital Syndrome:

id Genetic test Affiliating Genes
1 Oral-Facial-Digital Syndrome25
2 Orofaciodigital Syndromes25

Anatomical Context for Orofaciodigital Syndrome

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MalaCards organs/tissues related to Orofaciodigital Syndrome:

34
Kidney, Eye, Tongue, Pituitary

Animal Models for Orofaciodigital Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Orofaciodigital Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7C2CD3, C5orf42, OFD1

Publications for Orofaciodigital Syndrome

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Articles related to Orofaciodigital Syndrome:

(show all 39)
idTitleAuthorsYear
1
Daughter and Mother with Orofaciodigital Syndrome Type 1 and Glomerulocystic Kidney Disease. (27131853)
2016
2
TMEM107 is a Critical Regulator of Ciliary Protein Composition and is Mutated in Orofaciodigital Syndrome. (26518474)
2015
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
Rare case of orofaciodigital syndrome type I. (23417374)
2013
5
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. (23972372)
2013
6
Orofaciodigital syndrome. (22278878)
2012
7
Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals. (23716954)
2012
8
Bilateral cleft lip: a potential variant form of orofaciodigital syndrome type II? (22705220)
2012
9
Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. (18383484)
2008
10
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. (17535085)
2007
11
Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I. (18177199)
2007
12
Orofaciodigital syndrome with cerebral dysgenesis. (16502430)
2006
13
Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly. (11438951)
2001
14
Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. (10422014)
1999
15
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
16
Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease. (9175067)
1997
17
Prenatal diagnosis of orofaciodigital syndrome Varadi-Papp type. (8887243)
1996
18
Orofaciodigital syndrome I: a case report. (9151628)
1996
19
Prenatal diagnosis of orofaciodigital syndrome: Mohr type. (8551554)
1995
20
Orofaciodigital syndrome type I in a patient with severe CNS defects. (8554663)
1995
21
Midline defects of the orofaciodigital syndrome type VI (VA!radi syndrome). (7986801)
1994
22
Orofaciodigital syndrome type III in two sibs. (8230165)
1993
23
Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis. (1453437)
1992
24
Orofaciodigital syndrome type IV: report of a patient. (1642284)
1992
25
Renal cystic disease associated with orofaciodigital syndrome. (1539404)
1992
26
Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome. (1867273)
1991
27
Variability of expression of the orofaciodigital syndrome type I in black females: six cases. (2063902)
1991
28
A male with type I orofaciodigital syndrome. (1941964)
1991
29
Orofaciodigital syndrome type IV: report of a patient. (2929654)
1989
30
X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males. (3229001)
1988
31
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum. (3560170)
1987
32
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. (3560172)
1987
33
Orofaciodigital syndrome with mesomelic limb shortening. (6748015)
1984
34
Letter: Orofaciodigital syndrome. (949866)
1976
35
Orofaciodigital syndrome, type I: a phenotypic and genetic analysis. (1059061)
1975
36
Orofaciodigital syndrome II (OFD II) in brother and sister. (5173223)
1971
37
Orofaciodigital syndrome I (OFD I). (5173222)
1971
38
THE OROFACIODIGITAL SYNDROME. (14210673)
1964
39
OROFACIODIGITAL SYNDROME IN A MALE: CASE REPORT. (14089819)
1963

Variations for Orofaciodigital Syndrome

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Expression for genes affiliated with Orofaciodigital Syndrome

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Search GEO for disease gene expression data for Orofaciodigital Syndrome.

Pathways for genes affiliated with Orofaciodigital Syndrome

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GO Terms for genes affiliated with Orofaciodigital Syndrome

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Cellular components related to Orofaciodigital Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1centriolar satelliteGO:003445110.1C2CD3, OFD1
2ciliary basal bodyGO:00360649.4C2CD3, OFD1
3centrioleGO:00058149.2C2CD3, OFD1, SCLT1
4centrosomeGO:00058139.0C2CD3, OFD1, SCLT1

Biological processes related to Orofaciodigital Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cilium morphogenesisGO:00602719.4OFD1, TCTN3
2embryonic digit morphogenesisGO:00427339.2C2CD3, C5orf42
3cilium assemblyGO:00423848.3C2CD3, C5orf42, SCLT1

Sources for Orofaciodigital Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet