OFD
MCID: ORF001
MIFTS: 48

Orofaciodigital Syndrome (OFD)

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

Aliases & Classifications for Orofaciodigital Syndrome

MalaCards integrated aliases for Orofaciodigital Syndrome:

Name: Orofaciodigital Syndrome 12 53 25 15
Oral-Facial-Digital Syndrome 12 76 53 25 37 29 6
Orofaciodigital Syndromes 53 29 6 73
Oral Facial Digital Syndromes 53
Oral-Facial-Digital Syndromes 53
Oral Facial Digital Syndrome 76
Orofaciodigital Syndrome I 73
Oro-Facio-Digital Syndrome 25
Orodigitofacial Dysostosis 25
Dysplasia Linguofacialis 25
Orodigitofacial Syndrome 25
Ofds 25
Ofd 53

Classifications:



External Ids:

Disease Ontology 12 DOID:4501
MeSH 44 D009958
KEGG 37 H00454

Summaries for Orofaciodigital Syndrome

NIH Rare Diseases : 53 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                                        

MalaCards based summary : Orofaciodigital Syndrome, also known as oral-facial-digital syndrome, is related to orofaciodigital syndrome i and orofaciodigital syndrome vi, and has symptoms including seizures An important gene associated with Orofaciodigital Syndrome is OFD1 (OFD1, Centriole And Centriolar Satellite Protein), and among its related pathways/superpathways are Signaling by Hedgehog and Organelle biogenesis and maintenance. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and tongue, and related phenotypes are cellular and embryo

Disease Ontology : 12 A syndrome that is characterized by malformations of the face, oral cavity, and digits.

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).

Wikipedia : 76 Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked... more...

Related Diseases for Orofaciodigital Syndrome

Diseases in the Orofaciodigital Syndrome family:

Orofaciodigital Syndrome X Orofaciodigital Syndrome V
Orofaciodigital Syndrome Iii Orofaciodigital Syndrome Iv
Orofaciodigital Syndrome Ix Orofaciodigital Syndrome Vi
Orofaciodigital Syndrome Viii Orofaciodigital Syndrome I
Orofaciodigital Syndrome Vii Orofaciodigital Syndrome Xi
Orofaciodigital Syndrome Xiv Orofaciodigital Syndrome Xv
Orofaciodigital Syndrome Xvi Orofaciodigital Syndrome Xvii
Orofaciodigital Syndrome Xviii Orofaciodigital Syndrome 12
Orofaciodigital Syndrome 13

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome i 34.0 OFD1 TMEM107
2 orofaciodigital syndrome vi 33.3 CPLANE1 KIAA0753 OFD1 TCTN3
3 joubert syndrome 1 29.5 C2CD3 CPLANE1 KIAA0753 OFD1 TCTN3 TMEM107
4 orofaciodigital syndrome iv 12.6
5 orofaciodigital syndrome v 12.5
6 orofaciodigital syndrome xiv 12.4
7 orofaciodigital syndrome x 12.4
8 orofaciodigital syndrome ix 12.4
9 orofaciodigital syndrome xi 12.4
10 orofaciodigital syndrome viii 12.4
11 orofaciodigital syndrome xvi 12.4
12 orofaciodigital syndrome xv 12.4
13 orofaciodigital syndrome xvii 12.4
14 orofaciodigital syndrome iii 12.3
15 orofaciodigital syndrome 12 12.3
16 orofaciodigital syndrome 13 12.3
17 orofaciodigital syndrome xviii 12.3
18 orofaciodigital syndrome vii 12.3
19 mohr syndrome 11.8
20 osteofibrous dysplasia 11.6
21 sugarman brachydactyly 11.0
22 oral-facial-digital syndrome with short stature and brachymesophalangy 11.0
23 dysostosis 10.5
24 cerebellar hypoplasia 10.3
25 oculodentodigital dysplasia 10.2
26 dandy-walker complex 10.2
27 short-rib thoracic dysplasia 6 with or without polydactyly 10.2
28 cleft palate, isolated 10.2
29 heart disease 10.2
30 kidney disease 10.1
31 pallister-killian syndrome 10.0
32 ankyloglossia 10.0
33 pallister-hall syndrome 10.0
34 tetralogy of fallot 10.0
35 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
36 ellis-van creveld syndrome 10.0
37 hydrolethalus syndrome 1 10.0
38 corpus callosum, agenesis of, with abnormal genitalia 10.0
39 short-rib thoracic dysplasia 10 with or without polydactyly 10.0
40 nevus comedonicus 10.0
41 alopecia 10.0
42 hydronephrosis 10.0
43 gonadal dysgenesis 10.0
44 cystic kidney disease 10.0
45 astrocytoma 10.0
46 pseudohypoparathyroidism 10.0
47 47, xxy 10.0
48 pilocytic astrocytoma 10.0
49 precocious puberty 10.0
50 penile agenesis 10.0

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



Diseases related to Orofaciodigital Syndrome

Symptoms & Phenotypes for Orofaciodigital Syndrome

UMLS symptoms related to Orofaciodigital Syndrome:


seizures

MGI Mouse Phenotypes related to Orofaciodigital Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 C2CD3 CPLANE1 IFT57 INTU OFD1 TMEM107
2 embryo MP:0005380 9.91 C2CD3 CPLANE1 IFT57 INTU KIAA0753 OFD1
3 mortality/aging MP:0010768 9.86 C2CD3 CPLANE1 DDX59 IFT57 INTU KIAA0753
4 limbs/digits/tail MP:0005371 9.8 C2CD3 CPLANE1 IFT57 INTU OFD1 TMEM107
5 craniofacial MP:0005382 9.71 CPLANE1 IFT57 OFD1 TMEM107
6 nervous system MP:0003631 9.63 C2CD3 CPLANE1 IFT57 INTU OFD1 TMEM107
7 renal/urinary system MP:0005367 9.26 CPLANE1 INTU OFD1 TMEM107
8 skeleton MP:0005390 9.02 CPLANE1 IFT57 INTU OFD1 TMEM107

Drugs & Therapeutics for Orofaciodigital Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene Unknown status NCT01962129
2 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
3 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
4 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998

Search NIH Clinical Center for Orofaciodigital Syndrome

Genetic Tests for Orofaciodigital Syndrome

Genetic tests related to Orofaciodigital Syndrome:

# Genetic test Affiliating Genes
1 Oral-Facial-Digital Syndrome 29 OFD1
2 Orofaciodigital Syndromes 29

Anatomical Context for Orofaciodigital Syndrome

MalaCards organs/tissues related to Orofaciodigital Syndrome:

41
Kidney, Eye, Tongue, Bone, Liver, Pituitary, Heart

Publications for Orofaciodigital Syndrome

Articles related to Orofaciodigital Syndrome:

(show top 50) (show all 174)
# Title Authors Year
1
Successful treatment of facial milia in an infant with orofaciodigital syndrome type 1. ( 29205474 )
2018
2
Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1. ( 30484888 )
2018
3
INTU-related oral-facial-digital syndrome type VI: A confirmatory report. ( 29451301 )
2018
4
Oral-facial-digital syndrome (OFD): 31-year follow-up management and monitoring. ( 29460530 )
2018
5
Oral-Facial-Digital Syndrome Type 1: Oral Findings in a 6-Year-Old Girl. ( 29707412 )
2018
6
Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network. ( 27798113 )
2017
7
Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum. ( 28371265 )
2017
8
Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI). ( 28631893 )
2017
9
Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families. ( 28711741 )
2017
10
Daughter and Mother with Orofaciodigital Syndrome Type 1 and Glomerulocystic Kidney Disease. ( 27131853 )
2016
11
An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy. ( 27651963 )
2016
12
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). ( 27530628 )
2016
13
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. ( 26643951 )
2016
14
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. ( 27060890 )
2016
15
A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report. ( 27957444 )
2016
16
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. ( 25846457 )
2015
17
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? ( 25407461 )
2015
18
Mutations in C2CD3 cause oral-facial-digital syndrome through deregulation of centriole length. ( 25421854 )
2015
19
The pathogenesis of the clinical features of oral-facial-digital syndrome type I. ( 26593159 )
2015
20
Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome. ( 26044959 )
2015
21
TMEM107 is a Critical Regulator of Ciliary Protein Composition and is Mutated in Orofaciodigital Syndrome. ( 26518474 )
2015
22
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. ( 24997988 )
2014
23
Nevus comedonicus in oral-facial-digital syndrome type 1: a new finding or overlapping syndromes? ( 24517846 )
2014
24
Association of oral-facial-digital syndrome type VI (Varadi-Papp syndrome) with optochiasmatic pilocytic astrocytoma. ( 25252823 )
2014
25
Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype? ( 25535458 )
2014
26
Anesthetic considerations in a parturient with oral-facial-digital syndrome and repaired tetralogy of Fallot with left ventricular dysfunction. ( 24631061 )
2014
27
Lingual leiomyomatous hamartoma with bifid tip and ankyloglossia in a patient without oral-facial-digital syndrome: a case report and literature review. ( 24040829 )
2013
28
Rare case of orofaciodigital syndrome type I. ( 23417374 )
2013
29
Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case. ( 23956587 )
2013
30
The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype. ( 23732295 )
2013
31
Oral-facial-digital syndrome type I: Surgical approach and a case report. ( 23886557 )
2013
32
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. ( 23972372 )
2013
33
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
34
Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1. ( 24712474 )
2013
35
Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malformation. ( 23498571 )
2013
36
Orofaciodigital syndrome. ( 22278878 )
2012
37
Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals. ( 23716954 )
2012
38
Bilateral cleft lip: a potential variant form of orofaciodigital syndrome type II? ( 22705220 )
2012
39
Oral-facial-digital syndrome type 1: unique radiological findings. ( 22123492 )
2012
40
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. ( 22236771 )
2012
41
Orthodontic treatment of a patient with oral-facial-digital syndrome. ( 22449591 )
2012
42
The many faces of oral-facial-digital syndrome. ( 24052721 )
2012
43
Physical and dental manifestations of oral-facial-digital syndrome type I. ( 22169845 )
2011
44
A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1. ( 21729220 )
2011
45
Outcome of kidney transplantation in type I oral-facial-digital syndrome. ( 21210864 )
2011
46
Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1. ( 21266464 )
2011
47
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. ( 19817772 )
2010
48
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I). ( 20818665 )
2010
49
Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination. ( 20210637 )
2010
50
Multiple milia in a newborn with congenital malformations: oral-facial-digital syndrome type 1. ( 21510010 )
2010

Variations for Orofaciodigital Syndrome

ClinVar genetic disease variations for Orofaciodigital Syndrome:

6 (show top 50) (show all 366)
# Gene Variation Type Significance SNP ID Assembly Location
1 OFD1 NM_003611.2(OFD1): c.1303A> C (p.Ser435Arg) single nucleotide variant Pathogenic rs122460150 GRCh37 Chromosome X, 13774778: 13774778
2 OFD1 NM_003611.2(OFD1): c.1303A> C (p.Ser435Arg) single nucleotide variant Pathogenic rs122460150 GRCh38 Chromosome X, 13756659: 13756659
3 OFD1 NM_003611.2(OFD1): c.312+1delG deletion Pathogenic rs312262822 GRCh37 Chromosome X, 13754798: 13754798
4 OFD1 NM_003611.2(OFD1): c.312+1delG deletion Pathogenic rs312262822 GRCh38 Chromosome X, 13736679: 13736679
5 OFD1 NM_003611.2(OFD1): c.413-10T> G single nucleotide variant Pathogenic rs312262833 GRCh37 Chromosome X, 13762524: 13762524
6 OFD1 NM_003611.2(OFD1): c.413-10T> G single nucleotide variant Pathogenic rs312262833 GRCh38 Chromosome X, 13744405: 13744405
7 OFD1 NM_003611.2(OFD1): c.1887_1888insAT (p.Asn630Ilefs) insertion Pathogenic rs312262886 GRCh37 Chromosome X, 13778466: 13778467
8 OFD1 NM_003611.2(OFD1): c.1887_1888insAT (p.Asn630Ilefs) insertion Pathogenic rs312262886 GRCh38 Chromosome X, 13760347: 13760348
9 OFD1 NG_008872.1: g.16740_20819del4080 deletion no interpretation for the single variant GRCh37 Chromosome X, 13764571: 13768650
10 OFD1 NG_008872.1: g.16740_20819del4080 deletion no interpretation for the single variant GRCh38 Chromosome X, 13746452: 13750531
11 OFD1 NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs) duplication Pathogenic rs312262890 GRCh37 Chromosome X, 13778702: 13778705
12 OFD1 NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs) duplication Pathogenic rs312262890 GRCh38 Chromosome X, 13760583: 13760586
13 OFD1 NM_003611.2(OFD1): c.688_705del18 (p.Ile230_Lys235del) deletion Pathogenic rs398122866 GRCh37 Chromosome X, 13764932: 13764949
14 OFD1 NM_003611.2(OFD1): c.688_705del18 (p.Ile230_Lys235del) deletion Pathogenic rs398122866 GRCh38 Chromosome X, 13746813: 13746830
15 OFD1 NM_003611.2(OFD1): c.(?_-360)_828+?del deletion Pathogenic GRCh37 Chromosome X, 13752831: 13765072
16 OFD1 NM_003611.2(OFD1): c.(?_-360)_828+?del deletion Pathogenic GRCh38 Chromosome X, 13734712: 13746953
17 OFD1 NM_003611.2(OFD1): c.(?_-311)_1542+?del deletion Pathogenic GRCh37 Chromosome X, 13752832: 13775909
18 OFD1 NM_003611.2(OFD1): c.(?_-311)_1542+?del deletion Pathogenic GRCh38 Chromosome X, 13734713: 13757790
19 OFD1 NM_003611.2: c.1051-2> G single nucleotide variant Pathogenic
20 OFD1 NM_003611.2(OFD1): c.1056-2A> T single nucleotide variant Pathogenic rs312262861 GRCh37 Chromosome X, 13771485: 13771485
21 OFD1 NM_003611.2(OFD1): c.1056-2A> T single nucleotide variant Pathogenic rs312262861 GRCh38 Chromosome X, 13753366: 13753366
22 OFD1 NM_003611.2: c.1056C> G single nucleotide variant Pathogenic
23 OFD1 NM_003611.2(OFD1): c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) indel Pathogenic rs312262862 GRCh37 Chromosome X, 13771502: 13771509
24 OFD1 NM_003611.2(OFD1): c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) indel Pathogenic rs312262862 GRCh38 Chromosome X, 13753383: 13753390
25 OFD1 NM_003611.2(OFD1): c.1099C> T (p.Arg367Ter) single nucleotide variant Pathogenic rs312262863 GRCh37 Chromosome X, 13771530: 13771530
26 OFD1 NM_003611.2(OFD1): c.1099C> T (p.Arg367Ter) single nucleotide variant Pathogenic rs312262863 GRCh38 Chromosome X, 13753411: 13753411
27 OFD1 NM_003611.2(OFD1): c.1100G> A (p.Arg367Gln) single nucleotide variant Pathogenic rs312262864 GRCh37 Chromosome X, 13771531: 13771531
28 OFD1 NM_003611.2(OFD1): c.1100G> A (p.Arg367Gln) single nucleotide variant Pathogenic rs312262864 GRCh38 Chromosome X, 13753412: 13753412
29 OFD1 NM_003611.2(OFD1): c.111+2T> C single nucleotide variant Pathogenic rs312262809 GRCh37 Chromosome X, 13753467: 13753467
30 OFD1 NM_003611.2(OFD1): c.111+2T> C single nucleotide variant Pathogenic rs312262809 GRCh38 Chromosome X, 13735348: 13735348
31 OFD1 NM_003611.2(OFD1): c.111+3A> G single nucleotide variant Benign rs312262804 GRCh37 Chromosome X, 13753468: 13753468
32 OFD1 NM_003611.2(OFD1): c.111+3A> G single nucleotide variant Benign rs312262804 GRCh38 Chromosome X, 13735349: 13735349
33 OFD1 NM_003611.2(OFD1): c.111G> A (p.Lys37=) single nucleotide variant Pathogenic rs312262808 GRCh37 Chromosome X, 13753465: 13753465
34 OFD1 NM_003611.2(OFD1): c.111G> A (p.Lys37=) single nucleotide variant Pathogenic rs312262808 GRCh38 Chromosome X, 13735346: 13735346
35 OFD1 NM_003611.2(OFD1): c.111G> C (p.Lys37Asn) single nucleotide variant Pathogenic rs312262808 GRCh37 Chromosome X, 13753465: 13753465
36 OFD1 NM_003611.2(OFD1): c.111G> C (p.Lys37Asn) single nucleotide variant Pathogenic rs312262808 GRCh38 Chromosome X, 13735346: 13735346
37 OFD1 NM_003611.2(OFD1): c.1130-22_1130-19delAATT deletion Pathogenic rs312262865 GRCh37 Chromosome X, 13773248: 13773251
38 OFD1 NM_003611.2(OFD1): c.1130-22_1130-19delAATT deletion Pathogenic rs312262865 GRCh38 Chromosome X, 13755129: 13755132
39 OFD1 NM_003611.2(OFD1): c.1178dupA (p.Glu394Glyfs) duplication Pathogenic rs312262866 GRCh37 Chromosome X, 13773318: 13773318
40 OFD1 NM_003611.2(OFD1): c.1178dupA (p.Glu394Glyfs) duplication Pathogenic rs312262866 GRCh38 Chromosome X, 13755199: 13755199
41 OFD1 NM_003611.2(OFD1): c.1185delA (p.Glu395Aspfs) deletion Pathogenic rs312262867 GRCh37 Chromosome X, 13773325: 13773325
42 OFD1 NM_003611.2(OFD1): c.1185delA (p.Glu395Aspfs) deletion Pathogenic rs312262867 GRCh38 Chromosome X, 13755206: 13755206
43 OFD1 NM_003611.2(OFD1): c.1193_1196delAATC (p.Gln398Leufs) deletion Pathogenic rs312262868 GRCh37 Chromosome X, 13773333: 13773336
44 OFD1 NM_003611.2(OFD1): c.1193_1196delAATC (p.Gln398Leufs) deletion Pathogenic rs312262868 GRCh38 Chromosome X, 13755214: 13755217
45 OFD1 NM_003611.2(OFD1): c.121C> T (p.Arg41Ter) single nucleotide variant Pathogenic rs312262810 GRCh37 Chromosome X, 13754606: 13754606
46 OFD1 NM_003611.2(OFD1): c.121C> T (p.Arg41Ter) single nucleotide variant Pathogenic rs312262810 GRCh38 Chromosome X, 13736487: 13736487
47 OFD1 NM_003611.2(OFD1): c.1220_1221+1delAGG deletion Pathogenic rs312262869 GRCh37 Chromosome X, 13773360: 13773362
48 OFD1 NM_003611.2(OFD1): c.1220_1221+1delAGG deletion Pathogenic rs312262869 GRCh38 Chromosome X, 13755241: 13755243
49 OFD1 NM_003611.2(OFD1): c.1221+1delG deletion Pathogenic rs312262870 GRCh37 Chromosome X, 13773362: 13773362
50 OFD1 NM_003611.2(OFD1): c.1221+1delG deletion Pathogenic rs312262870 GRCh38 Chromosome X, 13755243: 13755243

Expression for Orofaciodigital Syndrome

Search GEO for disease gene expression data for Orofaciodigital Syndrome.

Pathways for Orofaciodigital Syndrome

Pathways related to Orofaciodigital Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.67 IFT57 INTU OFD1
2
Show member pathways
11.65 C2CD3 IFT57 OFD1 TCTN3

GO Terms for Orofaciodigital Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 C2CD3 IFT57 INTU KIAA0753 OFD1
2 centrosome GO:0005813 9.67 C2CD3 IFT57 KIAA0753 OFD1
3 cell projection GO:0042995 9.63 C2CD3 CPLANE1 IFT57 INTU OFD1 TMEM107
4 cilium GO:0005929 9.56 CPLANE1 IFT57 OFD1 TMEM107
5 centriole GO:0005814 9.5 C2CD3 KIAA0753 OFD1
6 ciliary transition zone GO:0035869 9.43 CPLANE1 TMEM107
7 centriolar satellite GO:0034451 9.13 C2CD3 KIAA0753 OFD1
8 ciliary basal body GO:0036064 8.92 C2CD3 IFT57 INTU OFD1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 embryonic digit morphogenesis GO:0042733 9.56 C2CD3 CPLANE1 INTU TMEM107
2 smoothened signaling pathway GO:0007224 9.54 IFT57 TCTN3
3 ciliary basal body-plasma membrane docking GO:0097711 9.54 C2CD3 OFD1 TCTN3
4 heart looping GO:0001947 9.52 C2CD3 IFT57
5 neural tube development GO:0021915 9.51 C2CD3 INTU
6 motile cilium assembly GO:0044458 9.49 IFT57 INTU
7 regulation of smoothened signaling pathway GO:0008589 9.48 C2CD3 INTU
8 centriole replication GO:0007099 9.46 KIAA0753 OFD1
9 non-motile cilium assembly GO:1905515 9.46 C2CD3 IFT57 INTU TMEM107
10 protein localization to centrosome GO:0071539 9.43 C2CD3 KIAA0753
11 cilium assembly GO:0060271 9.43 C2CD3 CPLANE1 INTU OFD1 TCTN3 TMEM107
12 establishment of planar polarity GO:0001736 9.4 CPLANE1 INTU
13 protein localization to ciliary transition zone GO:1904491 9.32 CPLANE1 TMEM107
14 cell projection organization GO:0030030 9.1 C2CD3 CPLANE1 INTU OFD1 TCTN3 TMEM107

Sources for Orofaciodigital Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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