OFD1
MCID: ORF037
MIFTS: 62

Orofaciodigital Syndrome I (OFD1)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Orofaciodigital Syndrome I

MalaCards integrated aliases for Orofaciodigital Syndrome I:

Name: Orofaciodigital Syndrome I 56 12 24 52 73 15 71
Ofd1 56 24 52 58 73
Oral-Facial-Digital Syndrome, Type I 56 73 54
Oral-Facial-Digital Syndrome 1 52 73 13
Orofaciodigital Syndrome 1 12 52 73
Oral-Facial-Digital Syndrome Type 1 52 58
Papillon-Leage and Psaume Syndrome 56 73
Orofaciodigital Syndrome Type 1 58 71
Papillon-Leage-Psaume Syndrome 12 58
Orofaciodigital Syndromes 43 71
Ofds I 56 73
Oral-Facial-Digital Syndrome Type I 24
Oral Facial Digital Syndrome Type 1 52
Orofaciodigital Syndrome, Type I 39
Orofaciodigital Syndrome Type I 12
Oral Facial Digital Syndrome 1 52
Ofd Syndrome 1 52
Ofds 1 52
Ofdsi 58
Ofdi 58

Characteristics:

Orphanet epidemiological data:

58
orofaciodigital syndrome type 1
Inheritance: Not applicable,X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
x-linked dominant

Miscellaneous:
lethal in males


HPO:

31
orofaciodigital syndrome i:
Onset and clinical course congenital onset
Inheritance x-linked dominant inheritance


GeneReviews:

24
Penetrance Ofd1 appears to be highly penetrant, although highly variable in expression. in some reports, renal cysts are the only apparent manifestation in affected females [mclaughlin et al 2000].

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Orofaciodigital Syndrome I

NIH Rare Diseases : 52 Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease . Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes). Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease .

MalaCards based summary : Orofaciodigital Syndrome I, also known as ofd1, is related to simpson-golabi-behmel syndrome, type 2 and bardet-biedl syndrome 4, and has symptoms including seizures An important gene associated with Orofaciodigital Syndrome I is OFD1 (OFD1 Centriole And Centriolar Satellite Protein), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drugs Chlorine dioxide and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, tongue and liver, and related phenotypes are hypertelorism and frontal bossing

Disease Ontology : 12 An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has material basis in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.

OMIM : 56 Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001). Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010). (311200)

UniProtKB/Swiss-Prot : 73 Orofaciodigital syndrome 1: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy- Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys.

Wikipedia : 74 Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked... more...

GeneReviews: NBK1188

Related Diseases for Orofaciodigital Syndrome I

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 I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 162)
# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome, type 2 33.3 OFD1 IFT88 CEP290
2 bardet-biedl syndrome 4 32.3 PIFO OFD1 CEP290
3 joubert syndrome 2 32.1 OFD1 CEP290
4 coloboma of macula 31.9 SCLT1 OFD1 CEP290
5 joubert syndrome 8 31.9 OFD1 CEP290
6 joubert syndrome 5 31.8 OFD1 CEP290
7 joubert syndrome 4 31.6 OFD1 CEP290
8 meckel syndrome, type 3 31.6 OFD1 IFT88 CEP290
9 renal-hepatic-pancreatic dysplasia 31.5 OFD1 CEP290
10 physical disorder 31.5 OFD1 IFT88 CEP290
11 ellis-van creveld syndrome 31.5 OFD1 IFT88 CEP290
12 orofaciodigital syndrome 31.3 TMEM107 SCLT1 OFD1 IFT88 CEP89 CEP83
13 cystic kidney disease 31.2 PIFO OFD1 IFT88 IFT20 CEP290 CEP164
14 cranioectodermal dysplasia 1 31.1 OFD1 IFT88 IFT20 CEP290
15 kartagener syndrome 31.1 OFD1 IFT88 IFT20 CEP290
16 retinitis pigmentosa 31.0 RAB3IP POC5 PIFO OFD1 IFT88 IFT20
17 polycystic kidney disease 4 with or without polycystic liver disease 30.9 OFD1 IFT88 IFT20 CEP290 CEP164
18 leber congenital amaurosis 30.8 OFD1 NINL IFT88 CEP290 CEP164
19 fundus dystrophy 30.8 OFD1 IFT88 IFT20 CEP290 CEP164
20 spinocerebellar ataxia 11 30.7 SCLT1 OFD1 CEP97 CEP89 CEP83 CEP164
21 visceral heterotaxy 30.7 PIFO OFD1 IFT88 IFT20 CEP290 CEP164
22 bardet-biedl syndrome 30.2 RAB3IP PIFO OFD1 IFT88 IFT20 CEP97
23 senior-loken syndrome 1 30.0 OFD1 IFT88 IFT20 CEP97 CEP83 CEP290
24 primary ciliary dyskinesia 29.8 SCLT1 PIFO OFD1 IFT88 IFT20 FBF1
25 meckel syndrome, type 1 28.8 TMEM107 SCLT1 RAB3IP PIFO OFD1 IFT88
26 nephronophthisis 28.6 SCLT1 RAB3IP PIFO OFD1 KIF24 IFT88
27 joubert syndrome 1 28.4 TMEM107 SCLT1 RAB3IP POC5 PIFO OFD1
28 orofaciodigital syndrome viii 12.7
29 orofaciodigital syndrome xvi 12.6
30 orofaciodigital syndrome xiv 12.6
31 orofaciodigital syndrome vii 12.6
32 orofaciodigital syndrome xi 12.6
33 orofaciodigital syndrome x 12.6
34 orofaciodigital syndrome ix 12.6
35 orofaciodigital syndrome xvii 12.5
36 orofaciodigital syndrome 12 12.5
37 orofaciodigital syndrome 13 12.5
38 orofaciodigital syndrome xviii 12.5
39 mohr syndrome 12.2
40 obsolete: ddx59-related orofaciodigital syndrome 12.1
41 retinitis pigmentosa 23 12.1
42 joubert syndrome 10 12.1
43 simpson-golabi-behmel syndrome 12.1
44 orofaciodigital syndrome iv 11.7
45 polycystic kidney disease 11.5
46 orofaciodigital syndrome vi 11.5
47 brachydactyly 11.5
48 coloboma of optic nerve 11.3
49 chromosome 2q35 duplication syndrome 11.3
50 porencephaly 11.3

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



Diseases related to Orofaciodigital Syndrome I

Symptoms & Phenotypes for Orofaciodigital Syndrome I

Human phenotypes related to Orofaciodigital Syndrome I:

58 31 (show top 50) (show all 94)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 broad alveolar ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000187
6 median cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000161
7 accessory oral frenulum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000191
8 lobulated tongue 58 31 hallmark (90%) Very frequent (99-80%) HP:0000180
9 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
10 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
11 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
12 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
13 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
14 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
15 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
16 cone-shaped epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0010579
17 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0004349
18 short toe 58 31 frequent (33%) Frequent (79-30%) HP:0001831
19 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
20 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
21 foot polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001829
22 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
23 hamartoma of tongue 58 31 frequent (33%) Frequent (79-30%) HP:0011802
24 tongue nodules 58 31 frequent (33%) Frequent (79-30%) HP:0000199
25 bifid tongue 31 frequent (33%) HP:0010297
26 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
27 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
28 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
29 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
30 chronic otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000389
31 open bite 58 31 occasional (7.5%) Occasional (29-5%) HP:0010807
32 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
33 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
34 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
35 coarse hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002208
36 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
37 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
38 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
39 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
40 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
41 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
42 exocrine pancreatic insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0001738
43 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
44 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
45 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
46 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
47 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
48 pancreatic cysts 58 31 very rare (1%) Occasional (29-5%) HP:0001737
49 hypoplasia of the zygomatic bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0010669
50 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
epicanthus
telecanthus
downslanting palpebral fissures

Head And Neck Face:
frontal bossing
facial asymmetry
microretrognathia
hypoplasia of the malar bones

Neurologic Central Nervous System:
hydrocephalus
seizures
porencephaly
hypothalamic hamartoma
arachnoid cysts
more
Skin Nails Hair Hair:
alopecia
dry, rough, sparse hair

Head And Neck Mouth:
cleft palate
high-arched palate
thickened alveolar ridges
hyperplastic oral frenuli
buccal frenuli
more
Head And Neck Nose:
broad nasal bridge
hypoplastic alar cartilage

Genitourinary Internal Genitalia Female:
ovarian cysts

Abdomen Pancreas:
pancreatic cysts (29%)

Skeletal Feet:
polydactyly, preaxial or postaxial (rare)
abnormalities of the toes (25%)
duplication of the hallux

Neurologic Behavioral Psychiatric Manifestations:
major depression (rare)

Head And Neck Ears:
low-set ears
hearing loss

Skeletal Hands:
clinodactyly
brachydactyly
syndactyly
abnormalities of the fingers (45%)
polydactyly, preaxial or postaxial (rare)
more
Growth Height:
short stature

Head And Neck Head:
microcephaly

Abdomen Liver:
hepatic fibrosis
fibrocystic liver (45%)
dilatation and beading of the intrahepatic bile ducts

Head And Neck Teeth:
enamel hypoplasia
supernumerary teeth
dental caries
missing teeth
anomalous anterior teeth

Cardiovascular Heart:
cardiac anomalies

Genitourinary Kidneys:
adult onset polycystic kidney (50%)

Skin Nails Hair Skin:
milia of upper face and ears (infancy)
dry scalp

Laboratory Abnormalities:
abnormal liver enzymes in those with hepatic cysts or fibrosis
proteinuria in those with cystic kidneys

Clinical features from OMIM:

311200

UMLS symptoms related to Orofaciodigital Syndrome I:


seizures

MGI Mouse Phenotypes related to Orofaciodigital Syndrome I:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.73 CCP110 CEP290 IFT88 OFD1 SCLT1 TMEM107
2 mortality/aging MP:0010768 9.73 CCP110 CEP164 CEP290 CEP83 CEP97 IFT20
3 limbs/digits/tail MP:0005371 9.63 CCP110 FBF1 IFT88 OFD1 SCLT1 TMEM107
4 renal/urinary system MP:0005367 9.17 CCP110 CEP290 IFT20 IFT88 OFD1 SCLT1

Drugs & Therapeutics for Orofaciodigital Syndrome I

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Chlorine dioxide Investigational Phase 4 10049-04-4
2 Anti-Infective Agents Phase 4
3 Dermatologic Agents Phase 4
4 Chlorhexidine gluconate Phase 4
5 Disinfectants Phase 4
6 Anti-Infective Agents, Local Phase 4
7
Umirolimus Experimental Phase 3 851536-75-9
8 Immunosuppressive Agents Phase 3
9 Immunologic Factors Phase 3
10 Anti-Inflammatory Agents Phase 3
11
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
12
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
13
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
14 Antifungal Agents Phase 2
15 Antibiotics, Antitubercular Phase 2
16 Anti-Bacterial Agents Phase 2
17 Cola
18 Liver Extracts

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 On-line 3-dimensional Optical Frequency Domain Imaging to Optimize Bifurcation Stenting Using UltiMaster Stent: OPTIMUM Study Unknown status NCT02972489 Phase 4
2 A Randomized Clinical Trial on the Effect of a Chlorine Dioxide Spray on Dental Plaque and Respiratory Pathogens in Institutionalized Elders Completed NCT03533335 Phase 4
3 OPtical Frequency Domain Imaging vs. INtravascular Ultrasound in Percutaneous Coronary InterventiON - OPINION Imaging Completed NCT01873222 Phase 3
4 OPtical Frequency Domain Imaging vs. INtravascular Ultrasound in Percutaneous Coronary InterventiON (OPINION) Completed NCT01873027 Phase 3
5 Comparison Between Optical Frequency Domain Imaging and Intravascular Ultrasound in Percutaneous Coronary Intervention Guidance for Biolimus A9 Eluting Stent Implantation Unknown status NCT03292081 Phase 2
6 Randomized Study to Assess the Effect of ThRombus Aspiration on Flow Area in STEMI Patients: an Optical Frequency Domain Imaging (OFDI) Study Completed NCT01271361 Phase 1, Phase 2
7 A Prospective Randomized Study to Compare Vascular Healing After Deployment of the Abluminal Sirolimus Coated Bio-Engineered (Combo) Stent Versus the Everolimus Eluting Stent in Patients With Acute Coronary Syndrome by Means of OCT Completed NCT01405287 Phase 2
8 Inflammatory Cellular Trafficking in Asthma in Response to Segmental Allergen Challenge Recruiting NCT00595491 Phase 1
9 Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene Unknown status NCT01962129
10 Pilot Study to Evaluate Use of Optical Frequency Domain Imaging (OFDI) for Duodenal Imaging in Celiac Disease in Children, Adolescents and Young Adults Completed NCT01439035
11 Pilot Study to Evaluate OFDI Surveillance and Image Guided Biopsy of the Esophagus Completed NCT01439633
12 Pilot Study for Imaging of the Esophagus Using an OFDI Capsule Completed NCT02204150
13 Pilot Study to Evaluate Optical Frequency Domain Imaging (OFDI) for Biliary Stricture Imaging Completed NCT01439620
14 Pilot Study to Evaluate Optical Frequency Domain Imaging as a Tool for Assessing the Tissue Response to Radiofrequency Ablation Completed NCT01439594
15 Pilot Study to Evaluate Optical Frequency Domain Imaging as a Tool for Assessing Colonic Polyps Completed NCT01439087
16 Pilot Study of OFDI Capsule Imaging of the Esophagus of Patients With Atrial Fibrillation Following RF Ablation Completed NCT02204566
17 Pilot Study to Evaluate Optical Frequency Domain Imaging for Diagnosis of Central Airway Disease Completed NCT01396603
18 Evaluation With OFDI of Strut Coverage of Terumo New Drug Eluting Stent (Development Code TCD-10023) With Biodegradable Polymer at 1, 2 and 3 Months Completed NCT01844843
19 Optical Frequency Domain Imaging (OFDI) Determined Stent Strut Coverage and Plaque Morphology After RESOLUTE Stent Placement in Non-Insulin Dependent Diabetics Presenting With Acute Coronary Syndrome (ACS) Completed NCT01794949
20 Comparison of the ABSORBTM Everolimus Eluting Bioresorbable Vascular Scaffold System With a Drug- Eluting Metal Stent (XienceTM) in Acute ST-Elevation Myocardial Infarction Completed NCT01986803
21 Pilot Study for Imaging of the Esophagus Using Tethered Capsule OCT Endomicroscopy With Distal Scanning Completed NCT02947997
22 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
23 Optical Coherence Tomography Based Screening and Surveillance of Esophagus and Gastroesophageal Junction Completed NCT01401699
24 Mechanisms of Very Late Bioresorbable Scaffold Thrombosis Assessed by Optical Coherence Tomography: Insights From the International INVEST Registry Completed NCT03180931
25 Post-stenting Assessment of Reendothelialization With OFDI After CTO Procedure Recruiting NCT03209843
26 Pilot Study for TCE (Tethered Capsule Endomicroscopy) Imaging of the Esophagus Using an OFDI (Optical Frequency Domain Imaging) Capsule With a Compact Imaging System Recruiting NCT02947971
27 Pilot Study for Imaging of the Duodenum Using an OFDI Capsule Recruiting NCT02202681
28 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
29 Natural History of Barrett's Esophagus Using Tethered Capsule Endomicroscopy Recruiting NCT02994693
30 OFDI Surveillance and Image-Guided Biopsy of the Esophagus Using an OFDI Capsule Active, not recruiting NCT02422433
31 Natural History of Vulnerable Coronary Plaques Enrolling by invitation NCT00540761
32 Imaging of the Esophagus Using a SECM Capsule Not yet recruiting NCT03546660
33 Optical Frequency Domain Imaging for Non-melanoma Skin Cancers Suspended NCT01662713
34 Pilot Study To Evaluate Optical Frequency Domain Imaging For Diagnosis Of Central Airway Disease Withdrawn NCT00784329
35 OFDI in Dermatology Withdrawn NCT01438047

Search NIH Clinical Center for Orofaciodigital Syndrome I

Cochrane evidence based reviews: orofaciodigital syndromes

Genetic Tests for Orofaciodigital Syndrome I

Anatomical Context for Orofaciodigital Syndrome I

MalaCards organs/tissues related to Orofaciodigital Syndrome I:

40
Kidney, Tongue, Liver, Pancreas, Brain, Bone, Skin

Publications for Orofaciodigital Syndrome I

Articles related to Orofaciodigital Syndrome I:

(show top 50) (show all 180)
# Title Authors PMID Year
1
Identification of the gene for oral-facial-digital type I syndrome. 54 24 56 6 61
11179005 2001
2
Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts. 24 61 6 56
15221448 2004
3
Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. 61 24 56 6
11950863 2002
4
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. 24 56 61
16397067 2006
5
Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred. 56 61 24
9249769 1997
6
Oral-facial-digital syndromes: review and diagnostic guidelines. 56 24
17963220 2007
7
Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease. 6 24
9198060 1997
8
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 61 56
28289185 2017
9
Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway. 56 61
20444807 2010
10
Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene. 61 56
18971206 2009
11
Oral-Facial-Digital Syndrome Type I 6 61
20301367 2002
12
Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls. 61 56
10482878 1999
13
Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85. 56 61
10051172 1999
14
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. 61 56
9215688 1997
15
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 24 61
24884629 2014
16
Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients. 24 61
22548404 2013
17
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. 24 61
23033313 2013
18
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). 61 24
22619378 2012
19
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. 24 61
22353940 2012
20
Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia. 61 24
22331178 2012
21
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I). 56
20818665 2010
22
Ofd1, a human disease gene, regulates the length and distal structure of centrioles. 61 24
20230748 2010
23
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. 24 61
19817772 2010
24
The molecular basis of oral-facial-digital syndrome, type 1. 61 24
19876934 2009
25
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 61 24
19800048 2009
26
Are the oral-facial-digital syndromes ciliopathies? 56
19396822 2009
27
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. 24 61
19023858 2009
28
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 61 24
18546297 2008
29
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. 24 61
16783569 2006
30
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. 61 24
16311594 2006
31
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. 24 61
12595504 2003
32
[Orofaciodigital syndrome--a new variant? Psychiatric, neurologic and neuroradiological findings]. 56
10683749 1999
33
Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. 6
9482645 1998
34
Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability? 56
9546832 1998
35
Oral-facial-digital type 1 syndrome of Papillon-Léage and Psaume. 56
1574477 1992
36
A male with type I orofaciodigital syndrome. 56
1941964 1991
37
Variability of expression of the orofaciodigital syndrome type I in black females: six cases. 56
2063902 1991
38
The oral-facial-digital syndrome: case report of a mother and daughter. 56
2372978 1990
39
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum. 56
3560170 1987
40
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. 56
3560172 1987
41
Neuropathology of oral-facial-digital syndromes. 56
3839363 1985
42
Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations. 56
6478638 1984
43
X-linked dominant inherited diseases with lethality in hemizygous males. 56
6873941 1983
44
Prenatal monitoring and genetic counseling in a 47, XXX female with the oro-facial digital syndrome-type 1. 56
7258190 1981
45
Further heterogeneity of the oral-facial-digital syndromes. 56
179315 1976
46
Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I. 56
1248177 1976
47
Orofaciodigital syndrome, type I: a phenotypic and genetic analysis. 56
1059061 1975
48
Pilosebaceous dysplasia in the oral-facial-digital syndrome. 56
5501900 1970
49
The oral-facial-digital syndrome: a male-lethal condition in a boy with 47/xxy chromosomes. 56
5295804 1966
50
[Studies on a family with orofaciodigital syndrome]. 56
5916636 1966

Variations for Orofaciodigital Syndrome I

ClinVar genetic disease variations for Orofaciodigital Syndrome I:

6 (show top 50) (show all 197) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OFD1 NM_003611.3(OFD1):c.111G>A (p.Lys37=)SNV Pathogenic 41060 rs312262808 X:13753465-13753465 X:13735346-13735346
2 OFD1 NM_003611.3(OFD1):c.111G>C (p.Lys37Asn)SNV Pathogenic 41061 rs312262808 X:13753465-13753465 X:13735346-13735346
3 OFD1 NM_003611.3(OFD1):c.1130-22_1130-19deldeletion Pathogenic 41062 rs312262865 X:13773248-13773251 X:13755129-13755132
4 OFD1 NM_003611.3(OFD1):c.1178dup (p.Glu394fs)duplication Pathogenic 41063 rs312262866 X:13773318-13773318 X:13755199-13755199
5 OFD1 NM_003611.3(OFD1):c.1189_1192AATC[1] (p.Gln398fs)short repeat Pathogenic 41065 rs312262868 X:13773333-13773336 X:13755214-13755217
6 OFD1 NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)SNV Pathogenic 41066 rs312262810 X:13754606-13754606 X:13736487-13736487
7 OFD1 NM_003611.3(OFD1):c.1220_1221+1deldeletion Pathogenic 41067 rs312262869 X:13773360-13773362 X:13755241-13755243
8 OFD1 NM_003611.3(OFD1):c.1221+1deldeletion Pathogenic 41068 rs312262870 X:13773362-13773362 X:13755243-13755243
9 OFD1 NM_003611.2(OFD1):c.1222-?_(*_?)deldeletion Pathogenic 41069
10 OFD1 NM_003611.3(OFD1):c.1263_1267AAAAC[1] (p.Gln423fs)short repeat Pathogenic 41070 rs312262871 X:13774743-13774747 X:13756624-13756628
11 OFD1 NM_003611.3(OFD1):c.1318del (p.Leu439_Leu440insTer)deletion Pathogenic 41072 rs312262872 X:13774793-13774793 X:13756674-13756674
12 OFD1 NM_003611.3(OFD1):c.1319del (p.Leu440fs)deletion Pathogenic 41073 rs312262873 X:13774794-13774794 X:13756675-13756675
13 OFD1 NM_003611.3(OFD1):c.1322_1326del (p.Lys441fs)deletion Pathogenic 41074 rs312262874 X:13774797-13774801 X:13756678-13756682
14 OFD1 NM_003611.3(OFD1):c.1323_1326del (p.Glu442fs)deletion Pathogenic 41075 rs312262875 X:13774798-13774801 X:13756679-13756682
15 OFD1 NM_003611.3(OFD1):c.1358T>A (p.Leu453Ter)SNV Pathogenic 41077 rs312262877 X:13774833-13774833 X:13756714-13756714
16 OFD1 NM_003611.3(OFD1):c.1360_1363del (p.Leu454fs)deletion Pathogenic 41078 rs312262878 X:13774835-13774838 X:13756716-13756719
17 OFD1 NM_003611.3(OFD1):c.1409del (p.Asn470fs)deletion Pathogenic 41079 rs312262879 X:13774884-13774884 X:13756765-13756765
18 OFD1 NM_003611.3(OFD1):c.1420C>T (p.Gln474Ter)SNV Pathogenic 41080 rs312262880 X:13775787-13775787 X:13757668-13757668
19 OFD1 NM_003611.3(OFD1):c.1445_1446del (p.Phe482fs)deletion Pathogenic 41081 rs312262881 X:13775812-13775813 X:13757693-13757694
20 OFD1 NM_003611.3(OFD1):c.1452_1458del (p.Lys484fs)deletion Pathogenic 41082 rs312262882 X:13775819-13775825 X:13757700-13757706
21 OFD1 NM_003611.3(OFD1):c.1587del (p.Ala530fs)deletion Pathogenic 41083 rs312262883 X:13776500-13776500 X:13758381-13758381
22 OFD1 NM_003611.3(OFD1):c.162_166del (p.Ser54fs)deletion Pathogenic 41084 rs312262811 X:13754647-13754651 X:13736528-13736532
23 OFD1 NM_003611.3(OFD1):c.1757del (p.Ser586fs)deletion Pathogenic 41085 rs312262884 X:13778336-13778336 X:13760217-13760217
24 OFD1 NM_003611.3(OFD1):c.1821del (p.Ile608fs)deletion Pathogenic 41086 rs312262885 X:13778400-13778400 X:13760281-13760281
25 OFD1 NM_003611.3(OFD1):c.1977_1978CT[1] (p.Ser660fs)short repeat Pathogenic 41089 rs312262887 X:13778558-13778559 X:13760439-13760440
26 OFD1 NM_003611.3(OFD1):c.2044dup (p.Ile682fs)duplication Pathogenic 41090 rs312262888 X:13778623-13778623 X:13760504-13760504
27 OFD1 NM_003611.3(OFD1):c.2056del (p.Ser686fs)deletion Pathogenic 41091 rs312262889 X:13778635-13778635 X:13760516-13760516
28 OFD1 NM_003611.3(OFD1):c.2176del (p.Arg726fs)deletion Pathogenic 41093 rs312262891 X:13778755-13778755 X:13760636-13760636
29 OFD1 NM_003611.3(OFD1):c.221C>T (p.Ser74Phe)SNV Pathogenic 41094 rs312262812 X:13754706-13754706 X:13736587-13736587
30 OFD1 NM_003611.3(OFD1):c.224A>C (p.Asn75Thr)SNV Pathogenic 41095 rs312262813 X:13754709-13754709 X:13736590-13736590
31 OFD1 NM_003611.3(OFD1):c.2261-1G>TSNV Pathogenic 41096 rs312262892 X:13779203-13779203 X:13761084-13761084
32 OFD1 NM_003611.3(OFD1):c.2349del (p.Ile784fs)deletion Pathogenic 41098 rs312262893 X:13779292-13779292 X:13761173-13761173
33 OFD1 NM_003611.3(OFD1):c.235G>A (p.Ala79Thr)SNV Pathogenic 41099 rs312262814 X:13754720-13754720 X:13736601-13736601
34 OFD1 NM_003611.3(OFD1):c.241C>G (p.His81Asp)SNV Pathogenic 41100 rs312262815 X:13754726-13754726 X:13736607-13736607
35 OFD1 NM_003611.3(OFD1):c.243C>G (p.His81Gln)SNV Pathogenic 41101 rs312262816 X:13754728-13754728 X:13736609-13736609
36 OFD1 NM_003611.3(OFD1):c.247C>T (p.Gln83Ter)SNV Pathogenic 41102 rs312262817 X:13754732-13754732 X:13736613-13736613
37 OFD1 NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys)SNV Pathogenic 41103 rs312262818 X:13754745-13754745 X:13736626-13736626
38 OFD1 NM_003611.3(OFD1):c.274T>C (p.Ser92Pro)SNV Pathogenic 41104 rs312262819 X:13754759-13754759 X:13736640-13736640
39 OFD1 NM_003611.3(OFD1):c.290A>G (p.Glu97Gly)SNV Pathogenic 41107 rs312262820 X:13754775-13754775 X:13736656-13736656
40 OFD1 NM_003611.3(OFD1):c.294_312del (p.Ser98fs)deletion Pathogenic 41108 rs312262821 X:13754779-13754797 X:13736660-13736678
41 OFD1 NM_003611.3(OFD1):c.312+3_312+9deldeletion Pathogenic 41109 rs397507557 X:13754799-13754805 X:13736680-13736686
42 OFD1 NM_003611.2(OFD1):c.313dupG (p.Val105Glyfs)duplication Pathogenic 41111 rs312262823 X:13756965-13756965 X:13738846-13738846
43 OFD1 NM_003611.3(OFD1):c.337C>T (p.Gln113Ter)SNV Pathogenic 41112 rs312262825 X:13756989-13756989 X:13738870-13738870
44 OFD1 NM_003611.3(OFD1):c.372C>G (p.Tyr124Ter)SNV Pathogenic 41113 rs312262826 X:13757024-13757024 X:13738905-13738905
45 OFD1 NM_003611.2(OFD1):c.382-?_412+?deldeletion Pathogenic 41114 X:13757121-13757151 X:13739002-13739032
46 OFD1 NM_003611.3(OFD1):c.382-2A>GSNV Pathogenic 41115 rs312262829 X:13757119-13757119 X:13739000-13739000
47 OFD1 NM_003611.3(OFD1):c.382-3C>GSNV Pathogenic 41116 rs312262828 X:13757118-13757118 X:13738999-13738999
48 OFD1 NM_003611.3(OFD1):c.400_403del (p.Glu134fs)deletion Pathogenic 41117 rs312262830 X:13757139-13757142 X:13739020-13739023
49 OFD1 NM_003611.3(OFD1):c.411del (p.Gly138fs)deletion Pathogenic 41118 rs312262831 X:13757150-13757150 X:13739031-13739031
50 OFD1 NM_003611.3(OFD1):c.412+2deldeletion Pathogenic 41119 rs312262832 X:13757153-13757153 X:13739034-13739034

UniProtKB/Swiss-Prot genetic disease variations for Orofaciodigital Syndrome I:

73
# Symbol AA change Variation ID SNP ID
1 OFD1 p.Ser435Arg VAR_013754 rs122460150
2 OFD1 p.Ser74Phe VAR_015574 rs312262812
3 OFD1 p.Ala79Thr VAR_030789 rs312262814
4 OFD1 p.Gly138Ser VAR_058758 rs312262827
5 OFD1 p.Met141Arg VAR_069100 rs886039860

Expression for Orofaciodigital Syndrome I

Search GEO for disease gene expression data for Orofaciodigital Syndrome I.

Pathways for Orofaciodigital Syndrome I

GO Terms for Orofaciodigital Syndrome I

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.36 RAB3IP POC5 PIFO OFD1 NINL LRRC45
2 cytosol GO:0005829 10.33 SCLT1 RAB3IP POC5 OFD1 NINL LRRC45
3 cell projection GO:0042995 10.08 TMEM107 RAB3IP OFD1 KIF19 IFT88 IFT20
4 cilium GO:0005929 9.98 TMEM107 OFD1 KIF19 IFT88 IFT20 CEP290
5 microtubule organizing center GO:0005815 9.97 POC5 OFD1 NINL LRRC45 IFT88 CEP97
6 centriole GO:0005814 9.97 SCLT1 POC5 OFD1 KIF24 IFT88 IFT20
7 ciliary basal body GO:0036064 9.85 PIFO OFD1 IFT88 IFT20 FBF1 CEP290
8 centrosome GO:0005813 9.8 SCLT1 POC5 OFD1 NINL LRRC45 IFT88
9 motile cilium GO:0031514 9.71 IFT88 IFT20 CEP89
10 centriolar satellite GO:0034451 9.69 OFD1 CEP97 CEP290
11 ciliary transition fiber GO:0097539 9.65 SCLT1 FBF1 CEP89 CEP83 CEP164
12 cytoskeleton GO:0005856 9.58 SCLT1 RAB3IP POC5 OFD1 NINL LRRC45
13 intraciliary transport particle B GO:0030992 9.52 IFT88 IFT20
14 MKS complex GO:0036038 9.49 TMEM107 CEP290

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.9 TMEM107 SCLT1 OFD1 KIF24 IFT88 IFT20
2 ciliary basal body-plasma membrane docking GO:0097711 9.73 SCLT1 RAB3IP OFD1 NINL KIF24 FBF1
3 G2/M transition of mitotic cell cycle GO:0000086 9.72 OFD1 NINL CEP290 CEP164 CCP110
4 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.65 OFD1 NINL CEP290 CEP164 CCP110
5 non-motile cilium assembly GO:1905515 9.61 TMEM107 IFT88 CEP89
6 regulation of cilium assembly GO:1902017 9.58 IFT88 IFT20 CNTROB
7 centriole replication GO:0007099 9.54 OFD1 CNTROB CCP110
8 intraciliary transport GO:0042073 9.51 IFT88 IFT20
9 inner ear receptor cell stereocilium organization GO:0060122 9.49 IFT88 IFT20
10 regulation of autophagosome assembly GO:2000785 9.48 IFT88 IFT20
11 negative regulation of cilium assembly GO:1902018 9.46 CEP97 CCP110
12 cell projection organization GO:0030030 9.44 TMEM107 PIFO OFD1 KIF24 IFT88 IFT20

Molecular functions related to Orofaciodigital Syndrome I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 TMEM107 RAB3IP POC5 PIFO OFD1 NINL
2 gamma-tubulin binding GO:0043015 8.96 PIFO OFD1

Sources for Orofaciodigital Syndrome I

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