OFDS
MCID: ORF001
MIFTS: 51

Orofaciodigital Syndrome (OFDS) malady

Genetic diseases, Rare diseases, Oral diseases, Neuronal diseases, Bone diseases, Fetal diseases, Ear diseases, Respiratory diseases categories

Summaries for Orofaciodigital Syndrome

About this section
Sources:
9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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 polydactyly. An important gene associated with Orofaciodigital Syndrome is TCTN3 (tectonic family member 3), and among its related pathways are Endochondral Ossification and Hedgehog signaling events mediated by Gli proteins. Affiliated tissues include kidney, eye and tongue, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

Disease Ontology:9 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.

Wikipedia:66 Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked... more...

Description from OMIM:48 311200

Aliases & Classifications for Orofaciodigital Syndrome

About this section
Sources:
9Disease Ontology, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 11DISEASES, 63UMLS, 48OMIM, 36MeSH
See all sources

Classifications:



Aliases & Descriptions:

orofaciodigital syndrome 9 44 22 11
oral-facial-digital syndromes 44 23
orofaciodigital syndromes 44 63
papillon-leage and psaume syndrome 9
oral facial digital syndromes 44
oral-facial-digital syndrome 22
oro-facio-digital syndrome 22
orodigitofacial dysostosis 22
orofaciodigital syndrome i 63
dysplasia linguofacialis 22
orodigitofacial syndrome 22
ofds 22


External Ids:

Disease Ontology9 DOID:4501
OMIM48 311200
MeSH36 D009958

Related Diseases for Orofaciodigital Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Orofaciodigital Syndrome 8 family:

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

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1cystic kidney30.4IFT88, KIF3A, OFD1
2polydactyly30.0EVC2, OFD1, TCTN3
3polycystic kidney disease29.9OFD1, KIF3A, IFT88
4oral-facial-digital syndrome type i10.6
5orofaciodigital syndrome 610.6
6orofaciodigital syndrome 410.5
7orofaciodigital syndrome 810.5
8orofaciodigital syndrome 910.5
9orofaciodigital syndrome 1110.5
10orofaciodigital syndrome 1210.5
11orofaciodigital syndrome 210.5
12orofaciodigital syndrome 510.5
13orofaciodigital syndrome 1010.4
14orofaciodigital syndrome 1310.4
15orofaciodigital syndrome 310.4
16cerebellar hypoplasia10.4
17hypothalamic hamartomas10.4
18dysostosis10.3
19oculodentodigital dysplasia10.3
20orofaciodigital syndrome type 1410.2
21pallister-hall syndrome10.2
22cleft palate10.2
23ellis-van creveld syndrome10.2
24hydronephrosis10.2
25coloboma10.2
26hydrolethalus syndrome10.2
27alopecia10.2
28congenital heart disease10.2
29pancreatitis10.2
30vaginitis10.2
31fibular aplasia10.2
32precocious puberty10.2
33werdnig-hoffman disease10.2
34short stature10.2
35short rib-polydactyly syndrome10.2
36vaginal atresia10.2
37joubert syndrome10.1
38beemer-langer syndrome10.1
39cleft lip10.1
40cerebritis10.1
41kidney disease10.1
42ophthalmoplegia10.1
43porencephaly10.1
44sugarman brachydactyly10.1
45ofd1-related joubert syndrome10.1
46joubert syndrome 2210.1
47tetrasomy 12p10.0

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



Diseases related to orofaciodigital syndrome

Symptoms for Orofaciodigital Syndrome

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

311200

Drugs & Therapeutics for Orofaciodigital Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Orofaciodigital Syndrome

Drug clinical trials:

Search ClinicalTrials for Orofaciodigital Syndrome

Search NIH Clinical Center for Orofaciodigital Syndrome

Search CenterWatch for Orofaciodigital Syndrome

Genetic Tests for Orofaciodigital Syndrome

About this section
Sources:
23GTR
See all sources

Genetic tests related to Orofaciodigital Syndrome:

id Genetic test Affiliating Genes
1 Oral-Facial-Digital Syndrome23

Anatomical Context for Orofaciodigital Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Orofaciodigital Syndrome:

34
Kidney, Eye, Tongue, Pituitary

Animal Models for Orofaciodigital Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Orofaciodigital Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.1IFT88, KIF3A, OFD1, EVC2
2MP:00053818.1CLPS, IFT88, KIF3A, OFD1
3MP:00053907.8IFT88, KIF3A, OFD1, EVC2
4MP:00053827.6EVC2, OFD1, KIF3A, IFT88, CLPS
5MP:00107687.5EVC2, OFD1, KIF3A, IFT88, CLPS

Publications for Orofaciodigital Syndrome

About this section
Sources:
53PubMed
See all sources

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

Variations for Orofaciodigital Syndrome

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Orofaciodigital Syndrome:

1 (show all 97)
id Gene Name Type Significance SNP ID Assembly Location
1OFD1NG_008872.1: g.16740_20819deldeletionPathogenic/card/orofaciodigital_syndromeGRCh37Chr X, 13764571: 13768650
2OFD1NM_003611.2(OFD1): c.1303A> C (p.Ser435Arg)single nucleotide variantPathogenicrs122460150GRCh37Chr X, 13774778: 13774778
3OFD1NM_003611.2(OFD1): c.312delG (p.Val105Tyrfs)deletionPathogenicrs312262822GRCh37Chr X, 13754797: 13754797
4OFD1NM_003611.2(OFD1): c.413-10T> Gsingle nucleotide variantPathogenicrs312262833GRCh37Chr X, 13762524: 13762524
5OFD1NM_003611.2(OFD1): c.1887_1888insAT (p.Asn630Ilefs)insertionPathogenicrs312262886GRCh37Chr X, 13778466: 13778467
6OFD1NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs)duplicationPathogenicrs312262890GRCh37Chr X, 13778702: 13778705
7OFD1NM_003611.2(OFD1): c.2841_2847delAAAAGAC (p.Lys948Asnfs)deletionPathogenicrs312262895GRCh37Chr X, 13786256: 13786262
8OFD1NM_003611.2(OFD1): c.2767delG (p.Glu923Lysfs)deletionPathogenicrs312262894GRCh37Chr X, 13786182: 13786182
9OFD1NM_003611.2: c.(?_-360)_828+?deldeletionPathogenic
10OFD1NM_003611.2: c.1051-2> Gsingle nucleotide variantPathogenic
11OFD1NM_003611.2(OFD1): c.1056-2A> Tsingle nucleotide variantPathogenicrs312262861GRCh37Chr X, 13771485: 13771485
12OFD1NM_003611.2: c.1056C> Gsingle nucleotide variantPathogenic
13OFD1NM_003611.2(OFD1): c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr)indelPathogenicrs312262862GRCh37Chr X, 13771502: 13771509
14OFD1NM_003611.2(OFD1): c.1099C> T (p.Arg367Ter)single nucleotide variantPathogenicrs312262863GRCh37Chr X, 13771530: 13771530
15OFD1NM_003611.2(OFD1): c.1100G> A (p.Arg367Gln)single nucleotide variantPathogenicrs312262864GRCh37Chr X, 13771531: 13771531
16OFD1NM_001011658.3(TRAPPC2): c.-985A> Gsingle nucleotide variantPathogenicrs312262809GRCh37Chr X, 13753467: 13753467
17OFD1NM_003611.2(OFD1): c.111G> A (p.Lys37=)single nucleotide variantPathogenicrs312262808GRCh37Chr X, 13753465: 13753465
18OFD1NM_003611.2(OFD1): c.111G> C (p.Lys37Asn)single nucleotide variantPathogenicrs312262808GRCh37Chr X, 13753465: 13753465
19OFD1NM_003611.2(OFD1): c.1178dupA (p.Glu394Glyfs)duplicationPathogenicrs312262866GRCh37Chr X, 13773318: 13773319
20OFD1NM_003611.2(OFD1): c.1185delA (p.Glu395Aspfs)deletionPathogenicrs312262867GRCh37Chr X, 13773325: 13773325
21OFD1NM_003611.2(OFD1): c.1193_1196delAATC (p.Gln398Leufs)deletionPathogenicrs312262868GRCh37Chr X, 13773333: 13773336
22OFD1NM_003611.2(OFD1): c.121C> T (p.Arg41Ter)single nucleotide variantPathogenicrs312262810GRCh37Chr X, 13754606: 13754606
23OFD1NM_003611.2(OFD1): c.1221+1delGdeletionPathogenicrs312262870GRCh37Chr X, 13773362: 13773362
24OFD1NM_003611.2: c.1222-?_(*_?)deldeletionPathogenic
25OFD1NM_003611.2(OFD1): c.1268_1272delAAAAC (p.Gln423Profs)deletionPathogenicrs312262871GRCh37Chr X, 13774743: 13774747
26OFD1NM_003611.2(OFD1): c.1318delC (p.Leu440Terfs)deletionPathogenicrs312262872GRCh37Chr X, 13774793: 13774793
27OFD1NM_003611.2(OFD1): c.1319delT (p.Leu440Glnfs)deletionPathogenicrs312262873GRCh37Chr X, 13774794: 13774794
28OFD1NM_003611.2(OFD1): c.1322_1326delAAGAA (p.Lys441Argfs)deletionPathogenicrs312262874GRCh37Chr X, 13774797: 13774801
29OFD1NM_003611.2(OFD1): c.1323_1326delAGAA (p.Glu442Argfs)deletionPathogenicrs312262875GRCh37Chr X, 13774798: 13774801
30OFD1NM_003611.2(OFD1): c.1334_1335delTG (p.Leu445Argfs)deletionPathogenicrs312262876GRCh37Chr X, 13774809: 13774810
31OFD1NM_003611.2(OFD1): c.1358T> A (p.Leu453Ter)single nucleotide variantPathogenicrs312262877GRCh37Chr X, 13774833: 13774833
32OFD1NM_003611.2(OFD1): c.1360_1363delCTTA (p.Leu454Asnfs)deletionPathogenicrs312262878GRCh37Chr X, 13774835: 13774838
33OFD1NM_003611.2(OFD1): c.1409delA (p.Asn470Thrfs)deletionPathogenicrs312262879GRCh37Chr X, 13774884: 13774884
34OFD1NM_003611.2(OFD1): c.1420C> T (p.Gln474Ter)single nucleotide variantPathogenicrs312262880GRCh37Chr X, 13775787: 13775787
35OFD1NM_003611.2(OFD1): c.1445_1446delTT (p.Phe482Serfs)deletionPathogenicrs312262881GRCh37Chr X, 13775812: 13775813
36OFD1NM_003611.2(OFD1): c.1452_1458delAGAACTA (p.Lys484Asnfs)deletionPathogenicrs312262882GRCh37Chr X, 13775819: 13775825
37OFD1NM_003611.2(OFD1): c.1587delA (p.Ala530Leufs)deletionPathogenicrs312262883GRCh37Chr X, 13776500: 13776500
38OFD1NM_003611.2(OFD1): c.162_166delTGGAG (p.Ser54Argfs)deletionPathogenicrs312262811GRCh37Chr X, 13754647: 13754651
39OFD1NM_003611.2(OFD1): c.1757delG (p.Ser586Metfs)deletionPathogenicrs312262884GRCh37Chr X, 13778336: 13778336
40OFD1NM_003611.2(OFD1): c.1821delG (p.Ile608Serfs)deletionPathogenicrs312262885GRCh37Chr X, 13778400: 13778400
41OFD1NM_003611.2(OFD1): c.1979_1980delCT (p.Ser660Cysfs)deletionPathogenicrs312262887GRCh37Chr X, 13778558: 13778559
42OFD1NM_003611.2(OFD1): c.2044dupA (p.Ile682Asnfs)duplicationPathogenicrs312262888GRCh37Chr X, 13778623: 13778624
43OFD1NM_003611.2(OFD1): c.2056delT (p.Ser686Profs)deletionPathogenicrs312262889GRCh37Chr X, 13778635: 13778635
44OFD1NM_003611.2(OFD1): c.2176delC (p.Arg726Alafs)deletionPathogenicrs312262891GRCh37Chr X, 13778755: 13778755
45OFD1NM_003611.2(OFD1): c.221C> T (p.Ser74Phe)single nucleotide variantPathogenicrs312262812GRCh37Chr X, 13754706: 13754706
46OFD1NM_003611.2(OFD1): c.224A> C (p.Asn75Thr)single nucleotide variantPathogenicrs312262813GRCh37Chr X, 13754709: 13754709
47OFD1NM_003611.2(OFD1): c.2261-1G> Tsingle nucleotide variantPathogenicrs312262892GRCh37Chr X, 13779203: 13779203
48OFD1NM_003611.2(OFD1): c.(?_2261)_(2387_?)del (p.Gly(?_754)_Gly(754_?)Valfs)deletionPathogenicGRCh37Chr X, 13779204: 13779330
49OFD1NM_003611.2(OFD1): c.2349delC (p.Ile784Serfs)deletionPathogenicrs312262893GRCh37Chr X, 13779292: 13779292
50OFD1NM_003611.2(OFD1): c.235G> A (p.Ala79Thr)single nucleotide variantPathogenicrs312262814GRCh37Chr X, 13754720: 13754720
51OFD1NM_003611.2(OFD1): c.241C> G (p.His81Asp)single nucleotide variantPathogenicrs312262815GRCh37Chr X, 13754726: 13754726
52OFD1NM_003611.2(OFD1): c.243C> G (p.His81Gln)single nucleotide variantPathogenicrs312262816GRCh37Chr X, 13754728: 13754728
53OFD1NM_003611.2(OFD1): c.247C> T (p.Gln83Ter)single nucleotide variantPathogenicrs312262817GRCh37Chr X, 13754732: 13754732
54OFD1NM_003611.2(OFD1): c.260A> G (p.Tyr87Cys)single nucleotide variantPathogenicrs312262818GRCh37Chr X, 13754745: 13754745
55OFD1NM_003611.2(OFD1): c.274T> C (p.Ser92Pro)single nucleotide variantPathogenicrs312262819GRCh37Chr X, 13754759: 13754759
56OFD1NM_003611.2(OFD1): c.290A> G (p.Glu97Gly)single nucleotide variantPathogenicrs312262820GRCh37Chr X, 13754775: 13754775
57OFD1NM_003611.2(OFD1): c.294_312del19 (p.Ser98Argfs)deletionPathogenicrs312262821GRCh37Chr X, 13754779: 13754797
58OFD1NM_003611.2(OFD1): c.313dupG (p.Val105Glyfs)duplicationPathogenicrs312262823GRCh37Chr X, 13756965: 13756966
59OFD1NM_003611.2(OFD1): c.337C> T (p.Gln113Ter)single nucleotide variantPathogenicrs312262825GRCh37Chr X, 13756989: 13756989
60OFD1NM_003611.2(OFD1): c.372C> G (p.Tyr124Ter)single nucleotide variantPathogenicrs312262826GRCh37Chr X, 13757024: 13757024
61OFD1NM_003611.2(OFD1): c.382-?_412+?del (p.Ser(?_129)_Ser(129_?)Phefs)deletionPathogenicGRCh37Chr X, 13757121: 13757151
62OFD1NM_003611.2(OFD1): c.382-2A> Gsingle nucleotide variantPathogenicrs312262829GRCh37Chr X, 13757119: 13757119
63OFD1NM_003611.2(OFD1): c.382-3C> Gsingle nucleotide variantPathogenicrs312262828GRCh37Chr X, 13757118: 13757118
64OFD1NM_003611.2(OFD1): c.400_403delGAAA (p.Glu134Ilefs)deletionPathogenicrs312262830GRCh37Chr X, 13757139: 13757142
65OFD1NM_003611.2(OFD1): c.411delA (p.Gly138Valfs)deletionPathogenicrs312262831GRCh37Chr X, 13757150: 13757150
66OFD1NM_003611.2(OFD1): c.412+2delTdeletionPathogenicrs312262832GRCh37Chr X, 13757153: 13757153
67OFD1NM_003611.2(OFD1): c.412G> A (p.Gly138Ser)single nucleotide variantPathogenicrs312262827GRCh37Chr X, 13757151: 13757151
68OFD1NM_003611.2(OFD1): c.431T> A (p.Leu144Ter)single nucleotide variantPathogenicrs312262835GRCh37Chr X, 13762552: 13762552
69OFD1NM_003611.2(OFD1): c.431dupT (p.Leu144Phefs)duplicationPathogenicrs312262834GRCh37Chr X, 13762552: 13762553
70OFD1NM_003611.2(OFD1): c.43_44delAG (p.Gln16Argfs)deletionPathogenicrs312262806GRCh37Chr X, 13753397: 13753398
71OFD1NM_003611.2(OFD1): c.454C> T (p.Gln152Ter)single nucleotide variantPathogenicrs312262836GRCh37Chr X, 13762575: 13762575
72OFD1NM_003611.2: c.518-?_935+?deldeletionPathogenic
73OFD1NM_003611.2(OFD1): c.594_598delAAAGC (p.Leu200Terfs)deletionPathogenicrs312262837GRCh37Chr X, 13764514: 13764518
74OFD1NM_003611.2(OFD1): c.602delA (p.Asn201Metfs)deletionPathogenicrs312262838GRCh37Chr X, 13764522: 13764522
75OFD1NM_003611.2(OFD1): c.615_620delAGAAAT (p.Ile207_Glu208del)deletionPathogenicrs312262839GRCh37Chr X, 13764535: 13764540
76OFD1NM_003611.2(OFD1): c.616_617delGA (p.Glu206Asnfs)deletionPathogenicrs312262840GRCh37Chr X, 13764536: 13764537
77OFD1NM_003611.2(OFD1): c.628C> T (p.Gln210Ter)single nucleotide variantPathogenicrs312262841GRCh37Chr X, 13764548: 13764548
78OFD1NM_003611.2(OFD1): c.653delA (p.Lys218Serfs)deletionPathogenicrs312262842GRCh37Chr X, 13764573: 13764573
79OFD1NM_003611.2(OFD1): c.65dupA (p.Leu23Alafs)duplicationPathogenicrs312262807GRCh37Chr X, 13753419: 13753420
80OFD1NM_003611.2(OFD1): c.675delC (p.Glu226Argfs)deletionPathogenicrs312262844GRCh37Chr X, 13764919: 13764919
81OFD1NM_003611.2(OFD1): c.707_719delAAAAGTATGAAAA (p.Lys236Argfs)deletionPathogenicrs312262846GRCh37Chr X, 13764951: 13764963
82OFD1NM_003611.2(OFD1): c.709_710delAA (p.Lys237Valfs)deletionPathogenicrs312262847GRCh37Chr X, 13764953: 13764954
83OFD1NM_003611.2(OFD1): c.710delA (p.Lys237Serfs)deletionPathogenicrs312262848GRCh37Chr X, 13764954: 13764954
84OFD1NM_003611.2(OFD1): c.710dupA (p.Tyr238Valfs)duplicationPathogenicrs312262845GRCh37Chr X, 13764954: 13764955
85OFD1NM_003611.2(OFD1): c.712delT (p.Tyr238Metfs)deletionPathogenicrs312262849GRCh37Chr X, 13764956: 13764956
86OFD1NM_003611.2(OFD1): c.790dupG (p.Glu264Glyfs)duplicationPathogenicrs312262850GRCh37Chr X, 13765034: 13765035
87OFD1NM_003611.2(OFD1): c.823C> T (p.Gln275Ter)single nucleotide variantPathogenicrs312262851GRCh37Chr X, 13765067: 13765067
88OFD1NM_003611.2(OFD1): c.837_838delAA (p.Lys280Argfs)deletionPathogenicrs312262852GRCh37Chr X, 13767554: 13767555
89OFD1NM_003611.2(OFD1): c.837_841delAAAAG (p.Lys280Asnfs)deletionPathogenicrs312262853GRCh37Chr X, 13767554: 13767558
90OFD1NM_003611.2(OFD1): c.839_840delAA (p.Lys280Argfs)deletionPathogenicrs312262854GRCh37Chr X, 13767556: 13767557
91OFD1NM_003611.2(OFD1): c.843_844delAA (p.Glu281Aspfs)deletionPathogenicrs312262855GRCh37Chr X, 13767560: 13767561
92OFD1NM_003611.2(OFD1): c.858delG (p.Arg286Serfs)deletionPathogenicrs312262856GRCh37Chr X, 13767575: 13767575
93OFD1NM_003611.2(OFD1): c.871A> T (p.Lys291Ter)single nucleotide variantPathogenicrs312262857GRCh37Chr X, 13767588: 13767588
94OFD1NM_003611.2(OFD1): c.877_878delAT (p.Met293Glyfs)deletionPathogenicrs312262858GRCh37Chr X, 13767594: 13767595
95OFD1NM_003611.2(OFD1): c.898_899dupGA (p.Ala301Lysfs)duplicationPathogenicrs312262859GRCh37Chr X, 13767616: 13767617
96OFD1NM_003611.2(OFD1): c.919delG (p.Val307Leufs)deletionPathogenicrs312262860GRCh37Chr X, 13767636: 13767636
97OFD1NM_003611.2: c.936-?_1129+?deldeletionPathogenic

Expression for genes affiliated with Orofaciodigital Syndrome

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 39NCBI BioSystems Database
See all sources

Pathways related to Orofaciodigital Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1KIF3A, IFT88
29.1KIF3A, IFT88

Compounds for genes affiliated with Orofaciodigital Syndrome

About this section

GO Terms for genes affiliated with Orofaciodigital Syndrome

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Orofaciodigital Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1centrioleGO:0058149.5OFD1, IFT88
2ciliary basal bodyGO:0360649.2OFD1, IFT88
3photoreceptor connecting ciliumGO:0323919.0KIF3A, IFT88
4ciliumGO:0059298.9EVC2, OFD1, IFT88

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

idNameGO IDScoreTop Affiliating Genes
1anterior/posterior pattern specificationGO:0099529.1KIF3A, IFT88
2cilium morphogenesisGO:0602719.0TCTN3, IFT88, OFD1
3determination of left/right symmetryGO:0073688.8KIF3A, IFT88
4smoothened signaling pathwayGO:0072248.1EVC2, KIF3A, IFT88, TCTN3

Products for genes affiliated with Orofaciodigital Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Orofaciodigital Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet