OFD1
MCID: ORF037
MIFTS: 59

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 57 12 25 20 72 29 6 15 70
Ofd1 57 25 20 58 72
Oral-Facial-Digital Syndrome, Type I 57 72 54
Oral-Facial-Digital Syndrome 1 20 72 13
Orofaciodigital Syndrome 1 12 20 72
Oral-Facial-Digital Syndrome Type 1 20 58
Papillon-Leage and Psaume Syndrome 57 72
Orofaciodigital Syndrome Type 1 58 70
Papillon-Leage-Psaume Syndrome 12 58
Orofaciodigital Syndromes 44 70
Ofds I 57 72
Oral-Facial-Digital Syndrome Type I 25
Oral Facial Digital Syndrome Type 1 20
Orofaciodigital Syndrome, Type I 39
Orofaciodigital Syndrome Type I 12
Oral Facial Digital Syndrome 1 20
Ofd Syndrome 1 20
Ofds 1 20
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®:

57 (Updated 05-Apr-2021)
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:

25
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

GARD : 20 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 orofaciodigital syndrome vi, 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 Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, tongue and pancreas, and related phenotypes are frontal bossing and high palate

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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 139)
# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome, type 2 32.2 OFD1 IFT88 CEP290
2 orofaciodigital syndrome vi 31.7 TMEM17 OFD1 CEP290
3 joubert syndrome 2 31.6 OFD1 CEP290
4 joubert syndrome 13 31.5 OFD1 CEP290
5 joubert syndrome 8 31.5 OFD1 CEP290
6 renal-hepatic-pancreatic dysplasia 31.4 OFD1 CEP290
7 cystic kidney disease 31.4 OFD1 IFT88 CEP290
8 meckel syndrome, type 3 31.4 OFD1 IFT88 CEP290
9 nephronophthisis 2 31.4 OFD1 IFT88 CEP290
10 cranioectodermal dysplasia 31.3 OFD1 IFT88 CEP290
11 physical disorder 31.3 OFD1 IFT88 CEP290
12 ellis-van creveld syndrome 31.3 OFD1 IFT88 CEP290
13 polycystic kidney disease 4 with or without polycystic liver disease 31.3 OFD1 IFT88 CEP290
14 visceral heterotaxy 31.3 OFD1 IFT88 CEP290
15 joubert syndrome 4 31.3 OFD1 CEP290
16 joubert syndrome 3 31.2 OFD1 CEP290
17 polycystic kidney disease 1 with or without polycystic liver disease 31.2 OFD1 IFT88 CEP290
18 kartagener syndrome 31.1 OFD1 KIF24 IFT88 CEP290
19 orofaciodigital syndrome 30.5 TMEM17 OFD1 IFT88 CEP89 CEP83 CEP290
20 retinitis pigmentosa 30.5 RAB3IP POC5 OFD1 IFT88 CEP83 CEP290
21 primary ciliary dyskinesia 30.3 OFD1 IFT88 CEP89 CEP83 CEP290 CEP164
22 joubert syndrome 5 30.2 OFD1 KIF24 CEP97 CEP290 CCP110
23 leber plus disease 30.2 RAB3IP OFD1 IFT88 CEP290 CEP164 CCP110
24 asphyxiating thoracic dystrophy 30.1 OFD1 IFT88 CEP83 CEP290 CEP164 CCP110
25 senior-loken syndrome 1 30.0 OFD1 IFT88 CEP97 CEP290 CEP164 CCP110
26 bardet-biedl syndrome 29.7 RAB3IP OFD1 IFT88 CEP97 CEP290 CEP164
27 fundus dystrophy 29.2 RAB3IP OFD1 IFT88 CEP97 CEP83 CEP290
28 meckel syndrome, type 1 28.8 TMEM17 RAB3IP OFD1 KIF24 IFT88 CEP97
29 joubert syndrome 1 28.6 RAB3IP POC5 PIFO OFD1 KIF24 IFT88
30 nephronophthisis 28.6 TMEM17 RAB3IP OFD1 KIF24 IFT88 CEP97
31 joubert syndrome 10 11.4
32 simpson-golabi-behmel syndrome 11.3
33 retinitis pigmentosa 23 11.3
34 orofaciodigital syndrome iv 11.1
35 polydactyly 11.1
36 mohr syndrome 11.0
37 lissencephaly 11.0
38 polycystic kidney disease 11.0
39 spinocerebellar ataxia 29 11.0
40 brachydactyly 11.0
41 ciliary dyskinesia, primary, 1 10.9
42 chromosome 2q35 duplication syndrome 10.8
43 coloboma of macula 10.8
44 bardet-biedl syndrome 4 10.8
45 porencephaly 10.8
46 coloboma of optic nerve 10.8
47 orofaciodigital syndrome v 10.8
48 short-rib thoracic dysplasia 1 with or without polydactyly 10.8
49 coach syndrome 1 10.8
50 abnormal hair, joint laxity, and developmental delay 10.8

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 95)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 median cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000161
6 accessory oral frenulum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000191
7 lobulated tongue 58 31 hallmark (90%) Very frequent (99-80%) HP:0000180
8 broad alveolar ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000187
9 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
10 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
11 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
12 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0004349
13 short toe 58 31 frequent (33%) Frequent (79-30%) HP:0001831
14 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
15 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
16 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
17 foot polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001829
18 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
19 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
20 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
21 cone-shaped epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0010579
22 hamartoma of tongue 58 31 frequent (33%) Frequent (79-30%) HP:0011802
23 tongue nodules 58 31 frequent (33%) Frequent (79-30%) HP:0000199
24 bifid tongue 31 frequent (33%) HP:0010297
25 seizure 31 frequent (33%) HP:0001250
26 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
27 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
28 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
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 coarse hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002208
33 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
34 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
35 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
36 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
37 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
38 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
39 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
40 exocrine pancreatic insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0001738
41 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
42 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
43 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
44 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
45 hypoplasia of the zygomatic bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0010669
46 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
47 odontogenic neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100612
48 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
49 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
50 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hydrocephalus
porencephaly
hypothalamic hamartoma
arachnoid cysts
more
Head And Neck Eyes:
hypertelorism
epicanthus
telecanthus
downslanting palpebral fissures

Growth Height:
short stature

Head And Neck Ears:
low-set ears
hearing loss

Skin Nails Hair Hair:
alopecia
dry, rough, sparse hair

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

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
high-arched palate
thickened alveolar ridges
hyperplastic oral frenuli
buccal frenuli
more
Abdomen Liver:
hepatic fibrosis
fibrocystic liver (45%)
dilatation and beading of the intrahepatic bile ducts

Skeletal Hands:
brachydactyly
clinodactyly
syndactyly
abnormalities of the fingers (45%)
polydactyly, preaxial or postaxial (rare)
more
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 (Updated 05-Apr-2021)

UMLS symptoms related to Orofaciodigital Syndrome I:


seizures

Drugs & Therapeutics for Orofaciodigital Syndrome I

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 3 53123-88-9 6436030 5284616
4
Umirolimus Experimental Phase 3 851536-75-9
5 Antibiotics, Antitubercular Phase 3
6 Immunologic Factors Phase 3
7 Immunosuppressive Agents Phase 3
8 Anti-Inflammatory Agents Phase 3
9 Anti-Bacterial Agents Phase 3
10 Anti-Infective Agents Phase 3
11 Antifungal Agents Phase 3
12 Cola

Interventional clinical trials:

(show all 27)
# 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 OPtical Frequency Domain Imaging vs. INtravascular Ultrasound in Percutaneous Coronary InterventiON - OPINION Imaging Completed NCT01873222 Phase 3
3 OPtical Frequency Domain Imaging vs. INtravascular Ultrasound in Percutaneous Coronary InterventiON (OPINION) Completed NCT01873027 Phase 3
4 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
5 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
6 Inflammatory Cellular Trafficking in Asthma in Response to Segmental Allergen Challenge Recruiting NCT00595491 Phase 1
7 Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene Unknown status NCT01962129
8 Pilot Study to Evaluate Optical Frequency Domain Imaging (OFDI) for Biliary Stricture Imaging Completed NCT01439620
9 Pilot Study to Evaluate OFDI Surveillance and Image Guided Biopsy of the Esophagus Completed NCT01439633
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 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
12 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
13 Pilot Study of OFDI Capsule Imaging of the Esophagus of Patients With Atrial Fibrillation Following RF Ablation Completed NCT02204566
14 Pilot Study for Imaging of the Esophagus Using an OFDI Capsule Completed NCT02204150
15 Pilot Study to Evaluate Optical Frequency Domain Imaging as a Tool for Assessing the Tissue Response to Radiofrequency Ablation Completed NCT01439594
16 Pilot Study to Evaluate Optical Frequency Domain Imaging as a Tool for Assessing Colonic Polyps Completed NCT01439087
17 Optical Coherence Tomography Based Screening and Surveillance of Esophagus and Gastroesophageal Junction Completed NCT01401699
18 Pilot Study for Imaging of the Esophagus Using Tethered Capsule OCT Endomicroscopy With Distal Scanning Completed NCT02947997
19 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
20 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
21 Pilot Study for Imaging of the Duodenum Using an OFDI Capsule Recruiting NCT02202681
22 Natural History of Barrett's Esophagus Using Tethered Capsule Endomicroscopy Recruiting NCT02994693
23 OFDI Surveillance and Image-Guided Biopsy of the Esophagus Using an OFDI Capsule Active, not recruiting NCT02422433
24 Post-stenting Assessment of Reendothelialization With OFDI After CTO Procedure Active, not recruiting NCT03209843
25 Natural History of Vulnerable Coronary Plaques Enrolling by invitation NCT00540761
26 OFDI in Dermatology Withdrawn NCT01438047
27 Pilot Study To Evaluate Optical Frequency Domain Imaging For Diagnosis Of Central Airway Disease Withdrawn NCT00784329

Search NIH Clinical Center for Orofaciodigital Syndrome I

Cochrane evidence based reviews: orofaciodigital syndromes

Genetic Tests for Orofaciodigital Syndrome I

Genetic tests related to Orofaciodigital Syndrome I:

# Genetic test Affiliating Genes
1 Orofaciodigital Syndrome I 29 OFD1

Anatomical Context for Orofaciodigital Syndrome I

MalaCards organs/tissues related to Orofaciodigital Syndrome I:

40
Kidney, Tongue, Pancreas, Bone, Liver, Heart, Cerebellum

Publications for Orofaciodigital Syndrome I

Articles related to Orofaciodigital Syndrome I:

(show top 50) (show all 198)
# Title Authors PMID Year
1
Identification of the gene for oral-facial-digital type I syndrome. 57 54 25 6 61
11179005 2001
2
Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts. 61 6 57 25
15221448 2004
3
Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. 61 57 6 25
11950863 2002
4
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 61 57 6
28289185 2017
5
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 61 6 25
24884629 2014
6
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. 25 6 61
23033313 2013
7
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 6 25 61
18546297 2008
8
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. 25 6 61
16783569 2006
9
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. 57 25 61
16397067 2006
10
Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred. 61 25 57
9249769 1997
11
Oral-facial-digital syndromes: review and diagnostic guidelines. 57 25
17963220 2007
12
Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease. 6 25
9198060 1997
13
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly. 6 61
27081566 2016
14
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. 61 6
24476948 2014
15
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. 6 61
23036093 2013
16
Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway. 57 61
20444807 2010
17
Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene. 61 57
18971206 2009
18
Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls. 57 61
10482878 1999
19
Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85. 61 57
10051172 1999
20
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. 57 61
9215688 1997
21
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 6
25356970 2015
22
Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients. 25 61
22548404 2013
23
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). 61 25
22619378 2012
24
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. 61 25
22353940 2012
25
Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia. 61 25
22331178 2012
26
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I). 57
20818665 2010
27
Ofd1, a human disease gene, regulates the length and distal structure of centrioles. 61 25
20230748 2010
28
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. 61 25
19817772 2010
29
The molecular basis of oral-facial-digital syndrome, type 1. 61 25
19876934 2009
30
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 61 25
19800048 2009
31
Are the oral-facial-digital syndromes ciliopathies? 57
19396822 2009
32
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. 61 25
19023858 2009
33
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. 25 61
16311594 2006
34
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. 25 61
12595504 2003
35
[Orofaciodigital syndrome--a new variant? Psychiatric, neurologic and neuroradiological findings]. 57
10683749 1999
36
Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. 6
9482645 1998
37
Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability? 57
9546832 1998
38
Oral-facial-digital type 1 syndrome of Papillon-Léage and Psaume. 57
1574477 1992
39
A male with type I orofaciodigital syndrome. 57
1941964 1991
40
Variability of expression of the orofaciodigital syndrome type I in black females: six cases. 57
2063902 1991
41
The oral-facial-digital syndrome: case report of a mother and daughter. 57
2372978 1990
42
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum. 57
3560170 1987
43
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. 57
3560172 1987
44
Neuropathology of oral-facial-digital syndromes. 57
3839363 1985
45
Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations. 57
6478638 1984
46
X-linked dominant inherited diseases with lethality in hemizygous males. 57
6873941 1983
47
Prenatal monitoring and genetic counseling in a 47, XXX female with the oro-facial digital syndrome-type 1. 57
7258190 1981
48
Further heterogeneity of the oral-facial-digital syndromes. 57
179315 1976
49
Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I. 57
1248177 1976
50
Orofaciodigital syndrome, type I: a phenotypic and genetic analysis. 57
1059061 1975

Variations for Orofaciodigital Syndrome I

ClinVar genetic disease variations for Orofaciodigital Syndrome I:

6 (show top 50) (show all 227)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OFD1 NM_003611.3(OFD1):c.1409del (p.Asn470fs) Deletion Pathogenic 41079 rs312262879 GRCh37: X:13774882-13774882
GRCh38: X:13756763-13756763
2 OFD1 NM_003611.3(OFD1):c.1420C>T (p.Gln474Ter) SNV Pathogenic 41080 rs312262880 GRCh37: X:13775787-13775787
GRCh38: X:13757668-13757668
3 OFD1 NM_003611.3(OFD1):c.1445_1446del (p.Phe482fs) Deletion Pathogenic 41081 rs312262881 GRCh37: X:13775811-13775812
GRCh38: X:13757692-13757693
4 OFD1 NM_003611.3(OFD1):c.1452_1458del (p.Lys484fs) Deletion Pathogenic 41082 rs312262882 GRCh37: X:13775818-13775824
GRCh38: X:13757699-13757705
5 OFD1 NM_003611.3(OFD1):c.1587del (p.Ala530fs) Deletion Pathogenic 41083 rs312262883 GRCh37: X:13776498-13776498
GRCh38: X:13758379-13758379
6 OFD1 NM_003611.3(OFD1):c.162_166del (p.Ser54fs) Deletion Pathogenic 41084 rs312262811 GRCh37: X:13754644-13754648
GRCh38: X:13736525-13736529
7 OFD1 NM_003611.3(OFD1):c.1757del (p.Ser586fs) Deletion Pathogenic 41085 rs312262884 GRCh37: X:13778336-13778336
GRCh38: X:13760217-13760217
8 OFD1 NM_003611.3(OFD1):c.1821del (p.Ile608fs) Deletion Pathogenic 41086 rs312262885 GRCh37: X:13778399-13778399
GRCh38: X:13760280-13760280
9 OFD1 NM_003611.3(OFD1):c.2044dup (p.Ile682fs) Duplication Pathogenic 41090 rs312262888 GRCh37: X:13778622-13778623
GRCh38: X:13760503-13760504
10 OFD1 NM_003611.3(OFD1):c.2056del (p.Ser686fs) Deletion Pathogenic 41091 rs312262889 GRCh37: X:13778634-13778634
GRCh38: X:13760515-13760515
11 OFD1 NM_003611.3(OFD1):c.2176del (p.Arg726fs) Deletion Pathogenic 41093 rs312262891 GRCh37: X:13778754-13778754
GRCh38: X:13760635-13760635
12 OFD1 NM_003611.3(OFD1):c.221C>T (p.Ser74Phe) SNV Pathogenic 41094 rs312262812 GRCh37: X:13754706-13754706
GRCh38: X:13736587-13736587
13 OFD1 NM_003611.3(OFD1):c.224A>C (p.Asn75Thr) SNV Pathogenic 41095 rs312262813 GRCh37: X:13754709-13754709
GRCh38: X:13736590-13736590
14 OFD1 NM_003611.3(OFD1):c.2261-1G>T SNV Pathogenic 41096 rs312262892 GRCh37: X:13779203-13779203
GRCh38: X:13761084-13761084
15 OFD1 NM_003611.2(OFD1):c.2261-?_2387+?del Deletion Pathogenic 41097 GRCh37: X:13779204-13779330
GRCh38: X:13761085-13761211
16 OFD1 NM_003611.3(OFD1):c.2349del (p.Ile784fs) Deletion Pathogenic 41098 rs312262893 GRCh37: X:13779291-13779291
GRCh38: X:13761172-13761172
17 OFD1 NM_003611.3(OFD1):c.235G>A (p.Ala79Thr) SNV Pathogenic 41099 rs312262814 GRCh37: X:13754720-13754720
GRCh38: X:13736601-13736601
18 OFD1 NM_003611.3(OFD1):c.241C>G (p.His81Asp) SNV Pathogenic 41100 rs312262815 GRCh37: X:13754726-13754726
GRCh38: X:13736607-13736607
19 OFD1 NM_003611.3(OFD1):c.243C>G (p.His81Gln) SNV Pathogenic 41101 rs312262816 GRCh37: X:13754728-13754728
GRCh38: X:13736609-13736609
20 OFD1 NM_003611.3(OFD1):c.247C>T (p.Gln83Ter) SNV Pathogenic 41102 rs312262817 GRCh37: X:13754732-13754732
GRCh38: X:13736613-13736613
21 OFD1 NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) SNV Pathogenic 41103 rs312262818 GRCh37: X:13754745-13754745
GRCh38: X:13736626-13736626
22 OFD1 NM_003611.3(OFD1):c.274T>C (p.Ser92Pro) SNV Pathogenic 41104 rs312262819 GRCh37: X:13754759-13754759
GRCh38: X:13736640-13736640
23 OFD1 NM_003611.3(OFD1):c.290A>G (p.Glu97Gly) SNV Pathogenic 41107 rs312262820 GRCh37: X:13754775-13754775
GRCh38: X:13736656-13736656
24 OFD1 NM_003611.3(OFD1):c.294_312del (p.Ser98fs) Deletion Pathogenic 41108 rs312262821 GRCh37: X:13754775-13754793
GRCh38: X:13736656-13736674
25 OFD1 NM_003611.3(OFD1):c.312+3_312+9del Deletion Pathogenic 41109 rs397507557 GRCh37: X:13754799-13754805
GRCh38: X:13736680-13736686
26 OFD1 NM_003611.2(OFD1):c.313dupG (p.Val105Glyfs) Duplication Pathogenic 41111 rs312262823 GRCh37: X:13756963-13756964
GRCh38: X:13738844-13738845
27 OFD1 NM_003611.3(OFD1):c.337C>T (p.Gln113Ter) SNV Pathogenic 41112 rs312262825 GRCh37: X:13756989-13756989
GRCh38: X:13738870-13738870
28 OFD1 NM_003611.3(OFD1):c.372C>G (p.Tyr124Ter) SNV Pathogenic 41113 rs312262826 GRCh37: X:13757024-13757024
GRCh38: X:13738905-13738905
29 OFD1 NM_003611.2(OFD1):c.382-?_412+?del Deletion Pathogenic 41114 GRCh37: X:13757121-13757151
GRCh38: X:13739002-13739032
30 OFD1 NM_003611.3(OFD1):c.382-2A>G SNV Pathogenic 41115 rs312262829 GRCh37: X:13757119-13757119
GRCh38: X:13739000-13739000
31 OFD1 NM_003611.3(OFD1):c.382-3C>G SNV Pathogenic 41116 rs312262828 GRCh37: X:13757118-13757118
GRCh38: X:13738999-13738999
32 OFD1 NM_003611.3(OFD1):c.411del (p.Gly138fs) Deletion Pathogenic 41118 rs312262831 GRCh37: X:13757146-13757146
GRCh38: X:13739027-13739027
33 OFD1 NM_003611.3(OFD1):c.412+2del Deletion Pathogenic 41119 rs312262832 GRCh37: X:13757153-13757153
GRCh38: X:13739034-13739034
34 OFD1 NM_003611.3(OFD1):c.412G>A (p.Gly138Ser) SNV Pathogenic 41120 rs312262827 GRCh37: X:13757151-13757151
GRCh38: X:13739032-13739032
35 OFD1 NM_003611.3(OFD1):c.431T>A (p.Leu144Ter) SNV Pathogenic 41122 rs312262835 GRCh37: X:13762552-13762552
GRCh38: X:13744433-13744433
36 OFD1 NM_003611.3(OFD1):c.431dup (p.Leu144fs) Duplication Pathogenic 41123 rs312262834 GRCh37: X:13762546-13762547
GRCh38: X:13744427-13744428
37 OFD1 NM_003611.3(OFD1):c.43_44del (p.Gln16fs) Deletion Pathogenic 41124 rs312262806 GRCh37: X:13753396-13753397
GRCh38: X:13735277-13735278
38 OFD1 NM_003611.3(OFD1):c.454C>T (p.Gln152Ter) SNV Pathogenic 41126 rs312262836 GRCh37: X:13762575-13762575
GRCh38: X:13744456-13744456
39 OFD1 NM_003611.2(OFD1):c.518-?_935+?del Deletion Pathogenic 41127 GRCh37: X:13764438-13767652
GRCh38: X:13746319-13749533
40 OFD1 NM_003611.3(OFD1):c.594_598del (p.Lys199_Leu200insTer) Deletion Pathogenic 41128 rs312262837 GRCh37: X:13764514-13764518
GRCh38: X:13746395-13746399
41 OFD1 NM_003611.3(OFD1):c.602del (p.Asn201fs) Deletion Pathogenic 41129 rs312262838 GRCh37: X:13764520-13764520
GRCh38: X:13746401-13746401
42 OFD1 NM_003611.3(OFD1):c.619_624del (p.Ile207_Glu208del) Deletion Pathogenic 41130 rs312262839 GRCh37: X:13764535-13764540
GRCh38: X:13746416-13746421
43 OFD1 NM_003611.3(OFD1):c.612_613GA[2] (p.Glu206fs) Microsatellite Pathogenic 41131 rs312262840 GRCh37: X:13764531-13764532
GRCh38: X:13746412-13746413
44 OFD1 NM_003611.3(OFD1):c.628C>T (p.Gln210Ter) SNV Pathogenic 41132 rs312262841 GRCh37: X:13764548-13764548
GRCh38: X:13746429-13746429
45 OFD1 NM_003611.3(OFD1):c.111G>A (p.Lys37=) SNV Pathogenic 41060 rs312262808 GRCh37: X:13753465-13753465
GRCh38: X:13735346-13735346
46 OFD1 NM_003611.3(OFD1):c.111G>C (p.Lys37Asn) SNV Pathogenic 41061 rs312262808 GRCh37: X:13753465-13753465
GRCh38: X:13735346-13735346
47 OFD1 NM_003611.3(OFD1):c.1130-22_1130-19del Deletion Pathogenic 41062 rs312262865 GRCh37: X:13773246-13773249
GRCh38: X:13755127-13755130
48 OFD1 NM_003611.3(OFD1):c.1178dup (p.Glu394fs) Duplication Pathogenic 41063 rs312262866 GRCh37: X:13773312-13773313
GRCh38: X:13755193-13755194
49 OFD1 NM_003611.3(OFD1):c.1185del (p.Glu395fs) Deletion Pathogenic 41064 rs312262867 GRCh37: X:13773324-13773324
GRCh38: X:13755205-13755205
50 OFD1 NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) SNV Pathogenic 41066 rs312262810 GRCh37: X:13754606-13754606
GRCh38: X:13736487-13736487

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

72
# 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 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.3 RAB3IP POC5 PIFO OFD1 KIF24 KIF19
2 cytosol GO:0005829 10.22 RAB3IP POC5 OFD1 KIF24 CEP97 CEP89
3 cell projection GO:0042995 10.03 TMEM17 RAB3IP OFD1 KIF19 IFT88 CEP290
4 cilium GO:0005929 9.91 TMEM17 OFD1 KIF19 IFT88 CEP290 CEP20
5 microtubule organizing center GO:0005815 9.86 POC5 OFD1 IFT88 CEP97 CEP89 CEP290
6 centrosome GO:0005813 9.85 RAB3IP POC5 OFD1 IFT88 CEP97 CEP89
7 motile cilium GO:0031514 9.8 OFD1 IFT88 CEP89 CEP20
8 ciliary basal body GO:0036064 9.8 RAB3IP PIFO OFD1 IFT88 CEP290 CEP20
9 centriolar satellite GO:0034451 9.78 OFD1 CEP97 CEP290 CEP20
10 cytoskeleton GO:0005856 9.77 RAB3IP POC5 OFD1 KIF24 KIF19 IFT88
11 ciliary transition fiber GO:0097539 9.58 CEP89 CEP83 CEP164
12 ciliary transition zone GO:0035869 9.55 TMEM17 CEP290
13 non-motile cilium GO:0097730 9.54 IFT88 CEP89
14 MKS complex GO:0036038 9.51 TMEM17 CEP290
15 centriole GO:0005814 9.32 POC5 OFD1 KIF24 IFT88 CEP89 CEP83

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

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.81 RAB3IP OFD1 KIF24 CEP97 CEP89 CEP83
2 cilium assembly GO:0060271 9.65 TMEM17 RAB3IP OFD1 KIF24 IFT88 CEP89
3 G2/M transition of mitotic cell cycle GO:0000086 9.62 OFD1 CEP290 CEP164 CCP110
4 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.56 OFD1 CEP290 CEP164 CCP110
5 non-motile cilium assembly GO:1905515 9.54 TMEM17 IFT88 CEP89
6 centriole replication GO:0007099 9.43 OFD1 CCP110
7 negative regulation of cilium assembly GO:1902018 9.4 CEP97 CCP110
8 cell projection organization GO:0030030 9.4 TMEM17 PIFO OFD1 KIF24 IFT88 CEP97

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

# Name GO ID Score Top Affiliating Genes
1 kinesin binding GO:0019894 8.96 PIFO IFT88
2 gamma-tubulin binding GO:0043015 8.62 PIFO OFD1

Sources for Orofaciodigital Syndrome I

3 CDC
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