OFDS
MCID: ORF001
MIFTS: 52

Orofaciodigital Syndrome (OFDS) malady

Genetic diseases, Rare diseases, Oral diseases, Neuronal diseases, Bone diseases, Fetal diseases, Ear diseases, Respiratory diseases categories
Download this MalaCard

Summaries for Orofaciodigital Syndrome

About this section


Fully expand this MalaCard
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 based summary: Orofaciodigital Syndrome, also known as oral-facial-digital syndromes, is related to cystic kidney and polydactyly. An important gene associated with Orofaciodigital Syndrome is OFD1 (oral-facial-digital syndrome 1), 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: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:65 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

About this section

Orofaciodigital Syndrome, Aliases & Descriptions:

Name: Orofaciodigital Syndrome 8 42 21 10
Oral-Facial-Digital Syndromes 42 22
Oral-Facial-Digital Syndrome 21 62
Oro-Facio-Digital Syndrome 21 62
Orofaciodigital Syndromes 42 62
Dysplasia Linguofacialis 21 62
 
Orodigitofacial Syndrome 21 62
Papillon-Leage and Psaume Syndrome 8
Oral Facial Digital Syndromes 42
Orodigitofacial Dysostosis 21
Orofaciodigital Syndrome I 62
Ofds 21


Classifications:



External Ids:

Disease Ontology8 DOID:4501
OMIM46 311200
MeSH34 D009958

Related Diseases for Orofaciodigital Syndrome

About this section

Diseases in the Orofaciodigital Syndrome 6 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 8
Orofaciodigital Syndrome 9 Orofaciodigital Syndrome Type 14
Orofaciodigital Syndrome Type 7

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1cystic kidney29.9KIF3A, OFD1, IFT88
2polydactyly29.9TCTN3, OFD1, EVC2
3polycystic kidney disease29.4OFD1, KIF3A, IFT88
4oral-facial-digital syndrome type i10.6
5orofaciodigital syndrome 610.6
6orofaciodigital syndrome 410.6
7orofaciodigital syndrome 810.6
8orofaciodigital syndrome 910.6
9orofaciodigital syndrome 1110.6
10orofaciodigital syndrome 210.5
11orofaciodigital syndrome 1010.5
12orofaciodigital syndrome 1210.5
13orofaciodigital syndrome 1310.5
14orofaciodigital syndrome 310.5
15orofaciodigital syndrome 510.5
16cerebellar hypoplasia10.4
17hypothalamic hamartomas10.4
18orofaciodigital syndrome type 710.3
19dysostosis10.3
20oculodentodigital dysplasia10.3
21orofaciodigital syndrome type 1410.2
22alopecia10.2
23pallister-hall syndrome10.2
24ellis-van creveld syndrome10.2
25hydrolethalus syndrome10.2
26hydronephrosis10.2
27astrocytoma10.2
28congenital heart disease10.2
29pancreatitis10.2
30vaginitis10.2
31fibular aplasia10.2
32pilocytic astrocytoma10.2
33precocious puberty10.2
34werdnig-hoffman disease10.2
35short stature10.2
36penile agenesis10.2
37vaginal atresia10.2
38joubert syndrome10.2
39beemer-langer syndrome10.1
40cleft lip10.1
41cerebritis10.1
42kidney disease10.1
43ophthalmoplegia10.1
44agenesis of the corpus callosum10.1
45porencephaly10.1
46sugarman brachydactyly10.1
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


Clinical features from OMIM:

311200

Drugs & Therapeutics for Orofaciodigital Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Orofaciodigital Syndrome

Search NIH Clinical Center for Orofaciodigital Syndrome

Genetic Tests for Orofaciodigital Syndrome

About this section

Genetic tests related to Orofaciodigital Syndrome:

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

Anatomical Context for Orofaciodigital Syndrome

About this section

MalaCards organs/tissues related to Orofaciodigital Syndrome:

32
Kidney, Eye, Tongue, Pituitary

Animal Models for Orofaciodigital Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Orofaciodigital Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.1KIF3A, OFD1, EVC2, IFT88
2MP:00053818.1KIF3A, CLPS, OFD1, IFT88
3MP:00053907.8OFD1, KIF3A, IFT88, EVC2
4MP:00053827.7KIF3A, CLPS, IFT88, OFD1, EVC2
5MP:00107687.6EVC2, OFD1, KIF3A, IFT88, CLPS

Publications for Orofaciodigital Syndrome

About this section

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

Clinvar genetic disease variations for Orofaciodigital Syndrome:

6 (show all 96)
id Gene Name Type Significance SNP ID Assembly Location
1OFD1NG_008872.1: g.16740_20819deldeletionPathogenicGRCh37Chr 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_003611.2(OFD1): c.111G> A (p.Lys37=)single nucleotide variantPathogenicrs312262808GRCh37Chr X, 13753465: 13753465
17OFD1NM_003611.2(OFD1): c.111G> C (p.Lys37Asn)single nucleotide variantPathogenicrs312262808GRCh37Chr X, 13753465: 13753465
18OFD1NM_003611.2(OFD1): c.1178dupA (p.Glu394Glyfs)duplicationPathogenicrs312262866GRCh37Chr X, 13773318: 13773319
19OFD1NM_003611.2(OFD1): c.1185delA (p.Glu395Aspfs)deletionPathogenicrs312262867GRCh37Chr X, 13773325: 13773325
20OFD1NM_003611.2(OFD1): c.1193_1196delAATC (p.Gln398Leufs)deletionPathogenicrs312262868GRCh37Chr X, 13773333: 13773336
21OFD1NM_003611.2(OFD1): c.121C> T (p.Arg41Ter)single nucleotide variantPathogenicrs312262810GRCh37Chr X, 13754606: 13754606
22OFD1NM_003611.2(OFD1): c.1221+1delGdeletionPathogenicrs312262870GRCh37Chr X, 13773362: 13773362
23OFD1NM_003611.2: c.1222-?_(*_?)deldeletionPathogenic
24OFD1NM_003611.2(OFD1): c.1268_1272delAAAAC (p.Gln423Profs)deletionPathogenicrs312262871GRCh37Chr X, 13774743: 13774747
25OFD1NM_003611.2(OFD1): c.1318delC (p.Leu440Terfs)deletionPathogenicrs312262872GRCh37Chr X, 13774793: 13774793
26OFD1NM_003611.2(OFD1): c.1319delT (p.Leu440Glnfs)deletionPathogenicrs312262873GRCh37Chr X, 13774794: 13774794
27OFD1NM_003611.2(OFD1): c.1322_1326delAAGAA (p.Lys441Argfs)deletionPathogenicrs312262874GRCh37Chr X, 13774797: 13774801
28OFD1NM_003611.2(OFD1): c.1323_1326delAGAA (p.Glu442Argfs)deletionPathogenicrs312262875GRCh37Chr X, 13774798: 13774801
29OFD1NM_003611.2(OFD1): c.1334_1335delTG (p.Leu445Argfs)deletionPathogenicrs312262876GRCh37Chr X, 13774809: 13774810
30OFD1NM_003611.2(OFD1): c.1358T> A (p.Leu453Ter)single nucleotide variantPathogenicrs312262877GRCh37Chr X, 13774833: 13774833
31OFD1NM_003611.2(OFD1): c.1360_1363delCTTA (p.Leu454Asnfs)deletionPathogenicrs312262878GRCh37Chr X, 13774835: 13774838
32OFD1NM_003611.2(OFD1): c.1409delA (p.Asn470Thrfs)deletionPathogenicrs312262879GRCh37Chr X, 13774884: 13774884
33OFD1NM_003611.2(OFD1): c.1420C> T (p.Gln474Ter)single nucleotide variantPathogenicrs312262880GRCh37Chr X, 13775787: 13775787
34OFD1NM_003611.2(OFD1): c.1445_1446delTT (p.Phe482Serfs)deletionPathogenicrs312262881GRCh37Chr X, 13775812: 13775813
35OFD1NM_003611.2(OFD1): c.1452_1458delAGAACTA (p.Lys484Asnfs)deletionPathogenicrs312262882GRCh37Chr X, 13775819: 13775825
36OFD1NM_003611.2(OFD1): c.1587delA (p.Ala530Leufs)deletionPathogenicrs312262883GRCh37Chr X, 13776500: 13776500
37OFD1NM_003611.2(OFD1): c.162_166delTGGAG (p.Ser54Argfs)deletionPathogenicrs312262811GRCh37Chr X, 13754647: 13754651
38OFD1NM_003611.2(OFD1): c.1757delG (p.Ser586Metfs)deletionPathogenicrs312262884GRCh37Chr X, 13778336: 13778336
39OFD1NM_003611.2(OFD1): c.1821delG (p.Ile608Serfs)deletionPathogenicrs312262885GRCh37Chr X, 13778400: 13778400
40OFD1NM_003611.2(OFD1): c.1979_1980delCT (p.Ser660Cysfs)deletionPathogenicrs312262887GRCh37Chr X, 13778558: 13778559
41OFD1NM_003611.2(OFD1): c.2044dupA (p.Ile682Asnfs)duplicationPathogenicrs312262888GRCh37Chr X, 13778623: 13778624
42OFD1NM_003611.2(OFD1): c.2056delT (p.Ser686Profs)deletionPathogenicrs312262889GRCh37Chr X, 13778635: 13778635
43OFD1NM_003611.2(OFD1): c.2176delC (p.Arg726Alafs)deletionPathogenicrs312262891GRCh37Chr X, 13778755: 13778755
44OFD1NM_003611.2(OFD1): c.221C> T (p.Ser74Phe)single nucleotide variantPathogenicrs312262812GRCh37Chr X, 13754706: 13754706
45OFD1NM_003611.2(OFD1): c.224A> C (p.Asn75Thr)single nucleotide variantPathogenicrs312262813GRCh37Chr X, 13754709: 13754709
46OFD1NM_003611.2(OFD1): c.2261-1G> Tsingle nucleotide variantPathogenicrs312262892GRCh37Chr X, 13779203: 13779203
47OFD1NM_003611.2(OFD1): c.(?_2261)_(2387_?)del (p.Gly(?_754)_Gly(754_?)Valfs)deletionPathogenicGRCh37Chr X, 13779204: 13779330
48OFD1NM_003611.2(OFD1): c.2349delC (p.Ile784Serfs)deletionPathogenicrs312262893GRCh37Chr X, 13779292: 13779292
49OFD1NM_003611.2(OFD1): c.235G> A (p.Ala79Thr)single nucleotide variantPathogenicrs312262814GRCh37Chr X, 13754720: 13754720
50OFD1NM_003611.2(OFD1): c.241C> G (p.His81Asp)single nucleotide variantPathogenicrs312262815GRCh37Chr X, 13754726: 13754726
51OFD1NM_003611.2(OFD1): c.243C> G (p.His81Gln)single nucleotide variantPathogenicrs312262816GRCh37Chr X, 13754728: 13754728
52OFD1NM_003611.2(OFD1): c.247C> T (p.Gln83Ter)single nucleotide variantPathogenicrs312262817GRCh37Chr X, 13754732: 13754732
53OFD1NM_003611.2(OFD1): c.260A> G (p.Tyr87Cys)single nucleotide variantPathogenicrs312262818GRCh37Chr X, 13754745: 13754745
54OFD1NM_003611.2(OFD1): c.274T> C (p.Ser92Pro)single nucleotide variantPathogenicrs312262819GRCh37Chr X, 13754759: 13754759
55OFD1NM_003611.2(OFD1): c.290A> G (p.Glu97Gly)single nucleotide variantPathogenicrs312262820GRCh37Chr X, 13754775: 13754775
56OFD1NM_003611.2(OFD1): c.294_312del19 (p.Ser98Argfs)deletionPathogenicrs312262821GRCh37Chr X, 13754779: 13754797
57OFD1NM_003611.2(OFD1): c.313dupG (p.Val105Glyfs)duplicationPathogenicrs312262823GRCh37Chr X, 13756965: 13756966
58OFD1NM_003611.2(OFD1): c.337C> T (p.Gln113Ter)single nucleotide variantPathogenicrs312262825GRCh37Chr X, 13756989: 13756989
59OFD1NM_003611.2(OFD1): c.372C> G (p.Tyr124Ter)single nucleotide variantPathogenicrs312262826GRCh37Chr X, 13757024: 13757024
60OFD1NM_003611.2(OFD1): c.382-?_412+?del (p.Ser(?_129)_Ser(129_?)Phefs)deletionPathogenicGRCh37Chr X, 13757121: 13757151
61OFD1NM_003611.2(OFD1): c.382-2A> Gsingle nucleotide variantPathogenicrs312262829GRCh37Chr X, 13757119: 13757119
62OFD1NM_003611.2(OFD1): c.382-3C> Gsingle nucleotide variantPathogenicrs312262828GRCh37Chr X, 13757118: 13757118
63OFD1NM_003611.2(OFD1): c.400_403delGAAA (p.Glu134Ilefs)deletionPathogenicrs312262830GRCh37Chr X, 13757139: 13757142
64OFD1NM_003611.2(OFD1): c.411delA (p.Gly138Valfs)deletionPathogenicrs312262831GRCh37Chr X, 13757150: 13757150
65OFD1NM_003611.2(OFD1): c.412+2delTdeletionPathogenicrs312262832GRCh37Chr X, 13757153: 13757153
66OFD1NM_003611.2(OFD1): c.412G> A (p.Gly138Ser)single nucleotide variantPathogenicrs312262827GRCh37Chr X, 13757151: 13757151
67OFD1NM_003611.2(OFD1): c.431T> A (p.Leu144Ter)single nucleotide variantPathogenicrs312262835GRCh37Chr X, 13762552: 13762552
68OFD1NM_003611.2(OFD1): c.431dupT (p.Leu144Phefs)duplicationPathogenicrs312262834GRCh37Chr X, 13762552: 13762553
69OFD1NM_003611.2(OFD1): c.43_44delAG (p.Gln16Argfs)deletionPathogenicrs312262806GRCh37Chr X, 13753397: 13753398
70OFD1NM_003611.2(OFD1): c.454C> T (p.Gln152Ter)single nucleotide variantPathogenicrs312262836GRCh37Chr X, 13762575: 13762575
71OFD1NM_003611.2: c.518-?_935+?deldeletionPathogenic
72OFD1NM_003611.2(OFD1): c.594_598delAAAGC (p.Leu200Terfs)deletionPathogenicrs312262837GRCh37Chr X, 13764514: 13764518
73OFD1NM_003611.2(OFD1): c.602delA (p.Asn201Metfs)deletionPathogenicrs312262838GRCh37Chr X, 13764522: 13764522
74OFD1NM_003611.2(OFD1): c.615_620delAGAAAT (p.Ile207_Glu208del)deletionPathogenicrs312262839GRCh37Chr X, 13764535: 13764540
75OFD1NM_003611.2(OFD1): c.616_617delGA (p.Glu206Asnfs)deletionPathogenicrs312262840GRCh37Chr X, 13764536: 13764537
76OFD1NM_003611.2(OFD1): c.628C> T (p.Gln210Ter)single nucleotide variantPathogenicrs312262841GRCh37Chr X, 13764548: 13764548
77OFD1NM_003611.2(OFD1): c.653delA (p.Lys218Serfs)deletionPathogenicrs312262842GRCh37Chr X, 13764573: 13764573
78OFD1NM_003611.2(OFD1): c.65dupA (p.Leu23Alafs)duplicationPathogenicrs312262807GRCh37Chr X, 13753419: 13753420
79OFD1NM_003611.2(OFD1): c.675delC (p.Glu226Argfs)deletionPathogenicrs312262844GRCh37Chr X, 13764919: 13764919
80OFD1NM_003611.2(OFD1): c.707_719delAAAAGTATGAAAA (p.Lys236Argfs)deletionPathogenicrs312262846GRCh37Chr X, 13764951: 13764963
81OFD1NM_003611.2(OFD1): c.709_710delAA (p.Lys237Valfs)deletionPathogenicrs312262847GRCh37Chr X, 13764953: 13764954
82OFD1NM_003611.2(OFD1): c.710delA (p.Lys237Serfs)deletionPathogenicrs312262848GRCh37Chr X, 13764954: 13764954
83OFD1NM_003611.2(OFD1): c.710dupA (p.Tyr238Valfs)duplicationPathogenicrs312262845GRCh37Chr X, 13764954: 13764955
84OFD1NM_003611.2(OFD1): c.712delT (p.Tyr238Metfs)deletionPathogenicrs312262849GRCh37Chr X, 13764956: 13764956
85OFD1NM_003611.2(OFD1): c.790dupG (p.Glu264Glyfs)duplicationPathogenicrs312262850GRCh37Chr X, 13765034: 13765035
86OFD1NM_003611.2(OFD1): c.823C> T (p.Gln275Ter)single nucleotide variantPathogenicrs312262851GRCh37Chr X, 13765067: 13765067
87OFD1NM_003611.2(OFD1): c.837_838delAA (p.Lys280Argfs)deletionPathogenicrs312262852GRCh37Chr X, 13767554: 13767555
88OFD1NM_003611.2(OFD1): c.837_841delAAAAG (p.Lys280Asnfs)deletionPathogenicrs312262853GRCh37Chr X, 13767554: 13767558
89OFD1NM_003611.2(OFD1): c.839_840delAA (p.Lys280Argfs)deletionPathogenicrs312262854GRCh37Chr X, 13767556: 13767557
90OFD1NM_003611.2(OFD1): c.843_844delAA (p.Glu281Aspfs)deletionPathogenicrs312262855GRCh37Chr X, 13767560: 13767561
91OFD1NM_003611.2(OFD1): c.858delG (p.Arg286Serfs)deletionPathogenicrs312262856GRCh37Chr X, 13767575: 13767575
92OFD1NM_003611.2(OFD1): c.871A> T (p.Lys291Ter)single nucleotide variantPathogenicrs312262857GRCh37Chr X, 13767588: 13767588
93OFD1NM_003611.2(OFD1): c.877_878delAT (p.Met293Glyfs)deletionPathogenicrs312262858GRCh37Chr X, 13767594: 13767595
94OFD1NM_003611.2(OFD1): c.898_899dupGA (p.Ala301Lysfs)duplicationPathogenicrs312262859GRCh37Chr X, 13767616: 13767617
95OFD1NM_003611.2(OFD1): c.919delG (p.Val307Leufs)deletionPathogenicrs312262860GRCh37Chr X, 13767636: 13767636
96OFD1NM_003611.2: c.936-?_1129+?deldeletionPathogenic

Expression for genes affiliated with Orofaciodigital Syndrome

About this section
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

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

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

idNameGO IDScoreTop Affiliating Genes
1centrioleGO:0058149.6OFD1, IFT88
2ciliary basal bodyGO:0360649.3OFD1, IFT88
3photoreceptor connecting ciliumGO:0323919.0KIF3A, IFT88
4ciliumGO:0059299.0EVC2, 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:0602719.1IFT88, OFD1, TCTN3
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

Sources for Orofaciodigital Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet