MCID: ORF001
MIFTS: 44

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 48 25 13
Orofaciodigital Syndromes 48 27 68
Oral-Facial-Digital Syndrome 25 27
Oral Facial Digital Syndromes 48
Oral-Facial-Digital Syndromes 48
Oro-Facio-Digital Syndrome 25
 
Orofaciodigital Syndrome I 68
Orodigitofacial Dysostosis 25
Dysplasia Linguofacialis 25
Orodigitofacial Syndrome 25
Ofds 25

Classifications:



External Ids:

Disease Ontology11 DOID:4501
MeSH39 D009958

Summaries for Orofaciodigital Syndrome

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NIH Rare Diseases:48 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, liver and pituitary, 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:25 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 12
Orofaciodigital Syndrome 13

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

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1orofaciodigital syndrome i12.4
2orofaciodigital syndrome vi12.3
3orofaciodigital syndrome iv12.2
4orofaciodigital syndrome v12.2
5orofaciodigital syndrome xiv12.1
6orofaciodigital syndrome x11.9
7orofaciodigital syndrome ix11.9
8orofaciodigital syndrome viii11.9
9orofaciodigital syndrome xi11.9
10orofaciodigital syndrome iii11.9
11orofaciodigital syndrome 1211.8
12orofaciodigital syndrome 1311.8
13orofaciodigital syndrome vii11.8
14mohr syndrome11.6
15polydactyly cleft lip palate psychomotor retardation10.9
16sugarman brachydactyly10.7
17oculodentodigital dysplasia10.0
18dysostosis10.0
19multiple sclerosis 39.8C5orf42, TMEM17
20porencephaly9.8
21polydactyly9.8
22cerebritis9.8
23cleft lip9.8
24acrofacial dysostosis9.5C5orf42, OFD1, TCTN3
25kat6b-related disorders9.3C5orf42, OFD1, TCTN3
26epileptic encephalopathy, early infantile, 148.8C2CD3, C5orf42, OFD1, TCTN3, TMEM17
27progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 48.7C2CD3, TCTN3, TMEM107, TMEM17
28pediatric angiosarcoma8.5C2CD3, C5orf42, DDX59, OFD1, SCLT1, TCTN3

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



Diseases related to orofaciodigital syndrome

Symptoms & Phenotypes for Orofaciodigital Syndrome

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UMLS symptoms related to Orofaciodigital Syndrome:


seizures

MGI Mouse Phenotypes related to Orofaciodigital Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7C2CD3, C5orf42, OFD1, TMEM107

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
Mentholapproved23532216-51-516666
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
2Liver Extracts3868

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 GeneUnknown statusNCT01962129
2Phenotype and Etiology of Pallister-Hall SyndromeCompletedNCT00001404
3UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998
4Clinical and Molecular Investigations Into CiliopathiesActive, not recruitingNCT00068224

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 Syndrome27
2 Orofaciodigital Syndromes27

Anatomical Context for Orofaciodigital Syndrome

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MalaCards organs/tissues related to Orofaciodigital Syndrome:

36
Kidney, Liver, Pituitary

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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Clinvar genetic disease variations for Orofaciodigital Syndrome:

5 (show all 115)
id Gene Variation Type Significance SNP ID Assembly Location
1OFD1NG_008872.1: g.16740_20819del4080deletionPathogenicGRCh37Chr X, 13764571: 13768650
2OFD1NM_003611.2(OFD1): c.1303A> C (p.Ser435Arg)SNVPathogenicrs122460150GRCh37Chr X, 13774778: 13774778
3OFD1NM_003611.2(OFD1): c.312delG (p.Val105Tyrfs)deletionPathogenicrs312262822GRCh37Chr X, 13754797: 13754797
4OFD1OFD1, 19-BP DEL, NT294deletionPathogenicChr na, -1: -1
5OFD1NM_003611.2(OFD1): c.413-10T> GSNVPathogenicrs312262833GRCh37Chr X, 13762524: 13762524
6OFD1NM_003611.2(OFD1): c.1887_1888insAT (p.Asn630Ilefs)insertionPathogenicrs312262886GRCh37Chr X, 13778466: 13778467
7OFD1NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs)duplicationPathogenicrs312262890GRCh37Chr X, 13778702: 13778705
8TMEM107NM_032354.3(TMEM107): c.316_318delTTC (p.Phe106del)deletionPathogenicrs752171066GRCh38Chr 17, 8174573: 8174575
9OFD1NM_003611.2(OFD1): c.62_63insT (p.Lys21Aspfs*8)insertionPathogenicrs886039856GRCh37Chr X, 13753416: 13753417
10OFD1NM_003611.2(OFD1): c.52G> T (p.Glu18*)SNVPathogenicrs886039857GRCh38Chr X, 13735287: 13735287
11OFD1NM_003611.2(OFD1): c.147dupG (p.His50A1afs*26)duplicationPathogenicrs886039858GRCh38Chr X, 13736513: 13736513
12OFD1NM_003611.2(OFD1): c.275_276delCT (p.Ser92Cyssf*24)deletionPathogenicrs886039859GRCh38Chr X, 13736641: 13736642
13OFD1NM_003611.2(OFD1): c.422T> G (p.Met141Arg)SNVPathogenicrs886039860GRCh38Chr X, 13744424: 13744424
14OFD1NM_003611.2(OFD1): c.508_509delGA (p.Asp170Phefs*4)deletionPathogenicrs886039861GRCh37Chr X, 13762629: 13762630
15OFD1NM_003611.2(OFD1): c.518-1G> ASNVPathogenicrs886039862GRCh38Chr X, 13746318: 13746318
16OFD1NM_003611.2(OFD1): c.541dupG (p.Asp181Glyfs*22)duplicationPathogenicrs886039863GRCh38Chr X, 13746342: 13746342
17OFD1NM_003611.2: c.2388+1G> CSNVPathogenicChr na, -1: -1
18OFD1NM_003611.2(OFD1): c.1612C> T (p.Gln538*)SNVPathogenicrs886039864GRCh37Chr X, 13776525: 13776525
19OFD1NP_003602.1: p.Ser620Cysfs*8deletionPathogenicChr na, -1: -1
20OFD1NM_003611.2(OFD1): c.1990dupC (p.Leu665Thrfs*35)duplicationPathogenicrs886039865GRCh38Chr X, 13760450: 13760450
21OFD1NM_003611.2(OFD1): c.(?_-359)_(*253_?)deldeletionPathogenicChr na, -1: -1
22OFD1NM_003611.2(OFD1): c.688_705del18 (p.Ile230_Lys235del)deletionPathogenicrs398122866GRCh37Chr X, 13764932: 13764949
23OFD1NM_003611.2(OFD1): c.(?_-360)_828+?deldeletionPathogenicGRCh37Chr X, 13752831: 13765072
24OFD1NM_003611.2(OFD1): c.(?_-311)_1542+?deldeletionPathogenicGRCh37Chr X, 13752832: 13775909
25OFD1NM_003611.2: c.1051-2> GSNVPathogenicChr na, -1: -1
26OFD1NM_003611.2(OFD1): c.1056-2A> TSNVPathogenicrs312262861GRCh37Chr X, 13771485: 13771485
27OFD1NM_003611.2: c.1056C> GSNVPathogenicChr na, -1: -1
28OFD1NM_003611.2(OFD1): c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr)indelPathogenicrs312262862GRCh37Chr X, 13771502: 13771509
29OFD1NM_003611.2(OFD1): c.1099C> T (p.Arg367Ter)SNVPathogenicrs312262863GRCh37Chr X, 13771530: 13771530
30OFD1NM_003611.2(OFD1): c.1100G> A (p.Arg367Gln)SNVPathogenicrs312262864GRCh37Chr X, 13771531: 13771531
31OFD1NM_003611.2(OFD1): c.111+2T> CSNVPathogenicrs312262809GRCh37Chr X, 13753467: 13753467
32OFD1NM_003611.2(OFD1): c.111G> A (p.Lys37=)SNVPathogenicrs312262808GRCh37Chr X, 13753465: 13753465
33OFD1NM_003611.2(OFD1): c.111G> C (p.Lys37Asn)SNVPathogenicrs312262808GRCh37Chr X, 13753465: 13753465
34OFD1NM_003611.2(OFD1): c.1130-22_1130-19delAATTdeletionPathogenicrs312262865GRCh37Chr X, 13773248: 13773251
35OFD1NM_003611.2(OFD1): c.1178dupA (p.Glu394Glyfs)duplicationPathogenicrs312262866GRCh37Chr X, 13773318: 13773318
36OFD1NM_003611.2(OFD1): c.1185delA (p.Glu395Aspfs)deletionPathogenicrs312262867GRCh37Chr X, 13773325: 13773325
37OFD1NM_003611.2(OFD1): c.1193_1196delAATC (p.Gln398Leufs)deletionPathogenicrs312262868GRCh37Chr X, 13773333: 13773336
38OFD1NM_003611.2(OFD1): c.121C> T (p.Arg41Ter)SNVPathogenicrs312262810GRCh37Chr X, 13754606: 13754606
39OFD1NM_003611.2(OFD1): c.1220_1221+1delAGGdeletionPathogenicrs312262869GRCh37Chr X, 13773360: 13773362
40OFD1NM_003611.2(OFD1): c.1221+1delGdeletionPathogenicrs312262870GRCh37Chr X, 13773362: 13773362
41OFD1NM_003611.2(OFD1): c.1222-?_(*_?)deldeletionPathogenicChr na, -1: -1
42OFD1NM_003611.2(OFD1): c.1268_1272delAAAAC (p.Gln423Profs)deletionPathogenicrs312262871GRCh37Chr X, 13774743: 13774747
43OFD1NM_003611.2(OFD1): c.1318delC (p.Leu440Terfs)deletionPathogenicrs312262872GRCh37Chr X, 13774793: 13774793
44OFD1NM_003611.2(OFD1): c.1319delT (p.Leu440Glnfs)deletionPathogenicrs312262873GRCh37Chr X, 13774794: 13774794
45OFD1NM_003611.2(OFD1): c.1322_1326delAAGAA (p.Lys441Argfs)deletionPathogenicrs312262874GRCh37Chr X, 13774797: 13774801
46OFD1NM_003611.2(OFD1): c.1323_1326delAGAA (p.Glu442Argfs)deletionPathogenicrs312262875GRCh37Chr X, 13774798: 13774801
47OFD1NM_003611.2(OFD1): c.1334_1335delTG (p.Leu445Argfs)deletionPathogenicrs312262876GRCh37Chr X, 13774809: 13774810
48OFD1NM_003611.2(OFD1): c.1358T> A (p.Leu453Ter)SNVPathogenicrs312262877GRCh37Chr X, 13774833: 13774833
49OFD1NM_003611.2(OFD1): c.1360_1363delCTTA (p.Leu454Asnfs)deletionPathogenicrs312262878GRCh37Chr X, 13774835: 13774838
50OFD1NM_003611.2(OFD1): c.1409delA (p.Asn470Thrfs)deletionPathogenicrs312262879GRCh37Chr X, 13774884: 13774884
51OFD1NM_003611.2(OFD1): c.1420C> T (p.Gln474Ter)SNVPathogenicrs312262880GRCh37Chr X, 13775787: 13775787
52OFD1NM_003611.2(OFD1): c.1445_1446delTT (p.Phe482Serfs)deletionPathogenicrs312262881GRCh37Chr X, 13775812: 13775813
53OFD1NM_003611.2(OFD1): c.1452_1458delAGAACTA (p.Lys484Asnfs)deletionPathogenicrs312262882GRCh37Chr X, 13775819: 13775825
54OFD1NM_003611.2(OFD1): c.1587delA (p.Ala530Leufs)deletionPathogenicrs312262883GRCh37Chr X, 13776500: 13776500
55OFD1NM_003611.2(OFD1): c.162_166delTGGAG (p.Ser54Argfs)deletionPathogenicrs312262811GRCh37Chr X, 13754647: 13754651
56OFD1NM_003611.2(OFD1): c.1757delG (p.Ser586Metfs)deletionPathogenicrs312262884GRCh37Chr X, 13778336: 13778336
57OFD1NM_003611.2(OFD1): c.1821delG (p.Ile608Serfs)deletionPathogenicrs312262885GRCh37Chr X, 13778400: 13778400
58OFD1NM_003611.2(OFD1): c.1979_1980delCT (p.Ser660Cysfs)deletionPathogenicrs312262887GRCh37Chr X, 13778558: 13778559
59OFD1NM_003611.2(OFD1): c.2044dupA (p.Ile682Asnfs)duplicationPathogenicrs312262888GRCh37Chr X, 13778623: 13778623
60OFD1NM_003611.2(OFD1): c.2056delT (p.Ser686Profs)deletionPathogenicrs312262889GRCh37Chr X, 13778635: 13778635
61OFD1NM_003611.2(OFD1): c.2176delC (p.Arg726Alafs)deletionPathogenicrs312262891GRCh37Chr X, 13778755: 13778755
62OFD1NM_003611.2(OFD1): c.221C> T (p.Ser74Phe)SNVPathogenicrs312262812GRCh37Chr X, 13754706: 13754706
63OFD1NM_003611.2(OFD1): c.224A> C (p.Asn75Thr)SNVPathogenicrs312262813GRCh37Chr X, 13754709: 13754709
64OFD1NM_003611.2(OFD1): c.2261-1G> TSNVPathogenicrs312262892GRCh37Chr X, 13779203: 13779203
65OFD1NM_003611.2(OFD1): c.2261-?_2387+?deldeletionPathogenicGRCh37Chr X, 13779204: 13779330
66OFD1NM_003611.2(OFD1): c.2349delC (p.Ile784Serfs)deletionPathogenicrs312262893GRCh37Chr X, 13779292: 13779292
67OFD1NM_003611.2(OFD1): c.235G> A (p.Ala79Thr)SNVPathogenicrs312262814GRCh37Chr X, 13754720: 13754720
68OFD1NM_003611.2(OFD1): c.241C> G (p.His81Asp)SNVPathogenicrs312262815GRCh37Chr X, 13754726: 13754726
69OFD1NM_003611.2(OFD1): c.243C> G (p.His81Gln)SNVPathogenicrs312262816GRCh37Chr X, 13754728: 13754728
70OFD1NM_003611.2(OFD1): c.247C> T (p.Gln83Ter)SNVPathogenicrs312262817GRCh37Chr X, 13754732: 13754732
71OFD1NM_003611.2(OFD1): c.260A> G (p.Tyr87Cys)SNVPathogenicrs312262818GRCh37Chr X, 13754745: 13754745
72OFD1NM_003611.2(OFD1): c.274T> C (p.Ser92Pro)SNVPathogenicrs312262819GRCh37Chr X, 13754759: 13754759
73OFD1NM_003611.2(OFD1): c.290A> G (p.Glu97Gly)SNVPathogenicrs312262820GRCh37Chr X, 13754775: 13754775
74OFD1NM_003611.2(OFD1): c.294_312del19 (p.Ser98Argfs)deletionPathogenicrs312262821GRCh37Chr X, 13754779: 13754797
75OFD1NM_003611.2(OFD1): c.312+2_312+8delTAAAGTCdeletionPathogenicrs397507557GRCh37Chr X, 13754799: 13754805
76OFD1NM_003611.2(OFD1): c.313dupG (p.Val105Glyfs)duplicationPathogenicrs312262823GRCh37Chr X, 13756965: 13756965
77OFD1NM_003611.2(OFD1): c.337C> T (p.Gln113Ter)SNVPathogenicrs312262825GRCh37Chr X, 13756989: 13756989
78OFD1NM_003611.2(OFD1): c.372C> G (p.Tyr124Ter)SNVPathogenicrs312262826GRCh37Chr X, 13757024: 13757024
79OFD1NM_003611.2(OFD1): c.382-?_412+?deldeletionPathogenicGRCh37Chr X, 13757121: 13757151
80OFD1NM_003611.2(OFD1): c.382-2A> GSNVPathogenicrs312262829GRCh37Chr X, 13757119: 13757119
81OFD1NM_003611.2(OFD1): c.382-3C> GSNVPathogenicrs312262828GRCh37Chr X, 13757118: 13757118
82OFD1NM_003611.2(OFD1): c.400_403delGAAA (p.Glu134Ilefs)deletionPathogenicrs312262830GRCh37Chr X, 13757139: 13757142
83OFD1NM_003611.2(OFD1): c.411delA (p.Gly138Valfs)deletionPathogenicrs312262831GRCh37Chr X, 13757150: 13757150
84OFD1NM_003611.2(OFD1): c.412+2delTdeletionPathogenicrs312262832GRCh37Chr X, 13757153: 13757153
85OFD1NM_003611.2(OFD1): c.412G> A (p.Gly138Ser)SNVPathogenicrs312262827GRCh37Chr X, 13757151: 13757151
86OFD1NM_003611.2(OFD1): c.431T> A (p.Leu144Ter)SNVPathogenicrs312262835GRCh37Chr X, 13762552: 13762552
87OFD1NM_003611.2(OFD1): c.431dupT (p.Leu144Phefs)duplicationPathogenicrs312262834GRCh37Chr X, 13762552: 13762552
88OFD1NM_003611.2(OFD1): c.43_44delAG (p.Gln16Argfs)deletionPathogenicrs312262806GRCh37Chr X, 13753397: 13753398
89OFD1NM_003611.2(OFD1): c.454C> T (p.Gln152Ter)SNVPathogenicrs312262836GRCh37Chr X, 13762575: 13762575
90OFD1NM_003611.2(OFD1): c.518-?_935+?deldeletionPathogenicGRCh38Chr X, 13746319: 13749533
91OFD1NM_003611.2(OFD1): c.594_598delAAAGC (p.Leu200Terfs)deletionPathogenicrs312262837GRCh37Chr X, 13764514: 13764518
92OFD1NM_003611.2(OFD1): c.602delA (p.Asn201Metfs)deletionPathogenicrs312262838GRCh37Chr X, 13764522: 13764522
93OFD1NM_003611.2(OFD1): c.615_620delAGAAAT (p.Ile207_Glu208del)deletionPathogenicrs312262839GRCh37Chr X, 13764535: 13764540
94OFD1NM_003611.2(OFD1): c.616_617delGA (p.Glu206Asnfs)deletionPathogenicrs312262840GRCh37Chr X, 13764536: 13764537
95OFD1NM_003611.2(OFD1): c.628C> T (p.Gln210Ter)SNVPathogenicrs312262841GRCh37Chr X, 13764548: 13764548
96OFD1NM_003611.2(OFD1): c.653delA (p.Lys218Serfs)deletionPathogenicrs312262842GRCh37Chr X, 13764573: 13764573
97OFD1NM_003611.2(OFD1): c.654+2_654+4delTAAdeletionPathogenicrs397507558GRCh37Chr X, 13764576: 13764578
98OFD1NM_003611.2(OFD1): c.65dupA (p.Leu23Alafs)duplicationPathogenicrs312262807GRCh37Chr X, 13753419: 13753419
99OFD1NM_003611.2(OFD1): c.675delC (p.Glu226Argfs)deletionPathogenicrs312262844GRCh37Chr X, 13764919: 13764919
100OFD1NM_003611.2(OFD1): c.707_719delAAAAGTATGAAAA (p.Lys236Argfs)deletionPathogenicrs312262846GRCh37Chr X, 13764951: 13764963
101OFD1NM_003611.2(OFD1): c.709_710delAA (p.Lys237Valfs)deletionPathogenicrs312262847GRCh37Chr X, 13764953: 13764954
102OFD1NM_003611.2(OFD1): c.710delA (p.Lys237Serfs)deletionPathogenicrs312262848GRCh37Chr X, 13764954: 13764954
103OFD1NM_003611.2(OFD1): c.710dupA (p.Tyr238Valfs)duplicationPathogenicrs312262845GRCh37Chr X, 13764954: 13764954
104OFD1NM_003611.2(OFD1): c.712delT (p.Tyr238Metfs)deletionPathogenicrs312262849GRCh37Chr X, 13764956: 13764956
105OFD1NM_003611.2(OFD1): c.790dupG (p.Glu264Glyfs)duplicationPathogenicrs312262850GRCh37Chr X, 13765034: 13765034
106OFD1NM_003611.2(OFD1): c.823C> T (p.Gln275Ter)SNVPathogenicrs312262851GRCh37Chr X, 13765067: 13765067
107OFD1NM_003611.2(OFD1): c.837_841delAAAAG (p.Lys280Asnfs)deletionPathogenicrs312262853GRCh37Chr X, 13767554: 13767558
108OFD1NM_003611.2(OFD1): c.839_840delAA (p.Lys280Argfs)deletionPathogenicrs312262852GRCh37Chr X, 13767556: 13767557
109OFD1NM_003611.2(OFD1): c.843_844delAA (p.Glu281Aspfs)deletionPathogenicrs312262855GRCh37Chr X, 13767560: 13767561
110OFD1NM_003611.2(OFD1): c.858delG (p.Arg286Serfs)deletionPathogenicrs312262856GRCh37Chr X, 13767575: 13767575
111OFD1NM_003611.2(OFD1): c.871A> T (p.Lys291Ter)SNVPathogenicrs312262857GRCh37Chr X, 13767588: 13767588
112OFD1NM_003611.2(OFD1): c.877_878delAT (p.Met293Glyfs)deletionPathogenicrs312262858GRCh37Chr X, 13767594: 13767595
113OFD1NM_003611.2(OFD1): c.898_899dupGA (p.Ala301Lysfs)duplicationPathogenicrs312262859GRCh37Chr X, 13767615: 13767616
114OFD1NM_003611.2(OFD1): c.919delG (p.Val307Leufs)deletionPathogenicrs312262860GRCh37Chr X, 13767636: 13767636
115OFD1NM_003611.2(OFD1): c.936-?_1129+?deldeletionPathogenicGRCh37Chr X, 13769368: 13771560

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:003445110.4C2CD3, OFD1
2ciliary basal bodyGO:003606410.2C2CD3, OFD1
3centrioleGO:00058149.8C2CD3, OFD1, SCLT1
4centrosomeGO:00058139.7C2CD3, OFD1, SCLT1
5ciliary membraneGO:00601709.5TCTN3, TMEM17
6ciliary transition zoneGO:00358698.7C5orf42, TMEM107, TMEM17

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

idNameGO IDScoreTop Affiliating Genes
1protein localization to ciliary transition zoneGO:190449110.0C5orf42, TMEM107
2embryonic digit morphogenesisGO:00427339.5C2CD3, C5orf42, TMEM107
3smoothened signaling pathwayGO:00072249.1TCTN3, TMEM17
4cilium assemblyGO:00602718.2C2CD3, C5orf42, SCLT1, TMEM107, TMEM17

Sources for Orofaciodigital Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet