Orofaciodigital Syndrome (OFD)

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

MalaCards integrated aliases for Orofaciodigital Syndrome:

Name: Orofaciodigital Syndrome 12 52 25 58 15
Oral-Facial-Digital Syndrome 12 74 52 25 58 36 29
Orofaciodigital Syndromes 52 29 6 71
Ofd 52 58
Oral Facial Digital Syndromes 52
Oral-Facial-Digital Syndromes 52
Oral Facial Digital Syndrome 74
Orofaciodigital Syndrome I 71
Oro-Facio-Digital Syndrome 25
Orodigitofacial Dysostosis 25
Dysplasia Linguofacialis 25
Orodigitofacial Syndrome 25
Ofds 25


Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 12 DOID:4501
KEGG 36 H00454
MeSH 43 D009958
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C0029294
Orphanet 58 ORPHA140997
UMLS 71 C0029294 C1510460

Summaries for Orofaciodigital Syndrome

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). Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder. The signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability. Abnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums. Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism). Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome. Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.

MalaCards based summary : Orofaciodigital Syndrome, also known as oral-facial-digital syndrome, is related to orofaciodigital syndrome iii and orofaciodigital syndrome v, and has symptoms including seizures An important gene associated with Orofaciodigital Syndrome is TMEM107 (Transmembrane Protein 107), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, tongue and eye, and related phenotypes are embryo and cardiovascular system

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

NIH Rare Diseases : 52 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 9 Orofaciodigital syndrome 3 Orofaciodigital syndrome 10 Orofaciodigital syndrome 4 Orofaciodigital syndrome 11 Orofaciodigital syndrome 5 Orofaciodigital syndrome 12 Orofaciodigital syndrome 6 Orofaciodigital syndrome 13 Orofaciodigital syndrome 7**now considered identical to type 1

KEGG : 36 Oral-facial-digital syndrome is a group of heterogeneous disorders characterized by malformations of the face, oral cavity and digits. OFD type I is a male lethal disorder and due to mutations in the OFD1 gene on the X chromosome. OFD type IV is due to mutations in the TCTN3 gene and patients have tibial dysplasia. OFD type V is due to mutations in the DDX59 gene and patients show the core features of cleft palate, lobulated tongue, and polydactyly.

Wikipedia : 74 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 204)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome iii 34.7 TMEM231 OFD1
2 orofaciodigital syndrome v 34.6 TMEM231 TCTN3 OFD1 DDX59 C2CD3
3 orofaciodigital syndrome iv 34.3 TMEM231 TMEM216 TCTN3 OFD1 DDX59 CPLANE1
4 orofaciodigital syndrome i 34.1 TMEM17 TMEM107 SCLT1 OFD1 IFT88 CEP83
5 orofaciodigital syndrome vi 33.3 TMEM67 TMEM231 TMEM216 TMEM17 TCTN3 TCTN1
6 ellis-van creveld syndrome 30.6 TMEM216 OFD1 INTU IFT88 IFT57
7 hydrolethalus syndrome 1 30.6 TMEM67 TMEM216 CEP290 C2CD3
8 simpson-golabi-behmel syndrome, type 2 30.6 OFD1 IFT88 CEP290
9 joubert syndrome 10 30.6 TMEM67 TMEM216 OFD1
10 short-rib thoracic dysplasia 6 with or without polydactyly 30.5 TMEM67 TMEM216 TCTN3 TCTN1 OFD1 CPLANE1
11 bardet-biedl syndrome 4 30.5 OFD1 CEP290
12 meningocele 30.4 TMEM67 C2CD3
13 cystic kidney disease 30.0 TMEM67 TMEM216 OFD1 IFT88 CEP290 CEP164
14 coloboma of macula 29.8 TMEM67 TMEM231 TMEM216 TCTN3 TCTN1 TBC1D32
15 retinal degeneration 29.5 TMEM67 IFT88 CEP290 CEP164
16 meckel syndrome, type 1 28.3 TMEM67 TMEM231 TMEM216 TMEM17 TMEM107 TCTN3
17 joubert syndrome 1 28.2 TMEM67 TMEM231 TMEM216 TMEM17 TMEM107 TCTN3
18 orofaciodigital syndrome viii 12.7
19 orofaciodigital syndrome xvi 12.6
20 orofaciodigital syndrome xiv 12.6
21 orofaciodigital syndrome vii 12.6
22 orofaciodigital syndrome xi 12.6
23 orofaciodigital syndrome x 12.6
24 orofaciodigital syndrome ix 12.6
25 orofaciodigital syndrome xvii 12.5
26 orofaciodigital syndrome xv 12.5
27 orofaciodigital syndrome 12 12.5
28 orofaciodigital syndrome 13 12.5
29 orofaciodigital syndrome xviii 12.5
30 mohr syndrome 12.2
31 obsolete: ddx59-related orofaciodigital syndrome 12.1
32 osteofibrous dysplasia 11.7
33 joubert syndrome 36 11.2
34 sugarman brachydactyly 11.1
35 oral-facial-digital syndrome with short stature and brachymesophalangy 11.1
36 dysostosis 10.5
37 polydactyly 10.5
38 occipital encephalocele 10.5 TCTN3 CEP290
39 spina bifida occulta 10.4 INTU C2CD3
40 joubert syndrome 16 10.4 TMEM231 TMEM216 TCTN3
41 joubert syndrome 17 10.4 INTU CPLANE1
42 meckel syndrome, type 7 10.4 TMEM231 TMEM216
43 nephronophthisis 18 10.4 SCLT1 CEP83 CEP164
44 encephalocele 10.4 TMEM67 CEP290
45 joubert syndrome 13 10.4 TMEM67 TMEM216 TCTN1
46 arima syndrome 10.4 TMEM231 TMEM216 CEP290
47 nephronophthisis 13 10.4 CEP290 CEP164
48 cleft palate, isolated 10.4
49 nephronophthisis 15 10.3 SCLT1 CEP83 CEP164 C2CD3
50 nephronophthisis 19 10.3 TMEM67 CEP290

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:


MGI Mouse Phenotypes related to Orofaciodigital Syndrome:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.28 C2CD3 CEP83 CPLANE1 DDX59 IFT57 IFT88
2 cardiovascular system MP:0005385 10.27 C2CD3 CEP290 CEP83 CPLANE1 IFT57 IFT88
3 cellular MP:0005384 10.22 C2CD3 CEP290 CPLANE1 IFT57 IFT88 INTU
4 mortality/aging MP:0010768 10.19 C2CD3 CEP164 CEP290 CEP83 CPLANE1 DDX59
5 growth/size/body region MP:0005378 10.18 CEP290 CEP83 CPLANE1 DDX59 IFT57 IFT88
6 limbs/digits/tail MP:0005371 10.13 C2CD3 CPLANE1 IFT57 IFT88 INTU OFD1
7 craniofacial MP:0005382 10.11 CEP290 CPLANE1 IFT57 IFT88 OFD1 SCLT1
8 digestive/alimentary MP:0005381 9.98 CPLANE1 IFT88 OFD1 SCLT1 TBC1D32 TMEM107
9 nervous system MP:0003631 9.97 C2CD3 CEP290 CPLANE1 IFT57 IFT88 INTU
10 renal/urinary system MP:0005367 9.61 CEP290 CPLANE1 IFT88 INTU OFD1 SCLT1
11 vision/eye MP:0005391 9.23 CEP290 CPLANE1 IFT57 IFT88 INTU TBC1D32

Drugs & Therapeutics for Orofaciodigital Syndrome

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 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
3 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) 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:

Kidney, Tongue, Eye, Heart, Bone, Brain, Pituitary

Publications for Orofaciodigital Syndrome

Articles related to Orofaciodigital Syndrome:

(show top 50) (show all 330)
# Title Authors PMID Year
A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy. 61
31816441 2019
Molecular diagnosis of kidney transplant failure based on urine. 61
31814324 2019
IFT172 as the 19th gene causative of oral-facial-digital syndrome. 61
31587445 2019
Comparison of mRNA expression from Y-chromosome X-degenerate region genes in taurine cattle, yaks and interspecific hybrid bulls. 61
31475374 2019
Copy Number Variations of Four Y-Linked Genes in Swamp Buffaloes. 61
31877875 2019
Temporospatial sonic hedgehog signalling is essential for neural crest-dependent patterning of the intrinsic tongue musculature. 61
31719045 2019
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms. 61
31366608 2019
An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns. 61
31243241 2019
A systematic analysis of evidence for surgically accelerated orthodontics. 61
31636876 2019
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. 61
31373179 2019
Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1. 61
30484888 2019
Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis. 61
31004438 2019
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review. 61
31158925 2019
Papillon-Léage and psaume syndrome patient with multiple dental and orofacial anomalies. 61
31187776 2019
A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. 61
30895720 2019
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. 61
30905400 2019
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome". 61
29961766 2019
Clinical spectrum of male patients with OFD1 mutations. 61
30401917 2019
A comprehensive evaluation of an OFDI syndrome from child to teenager. 61
31658347 2019
30702069 2018
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. 61
29605658 2018
INTU-related oral-facial-digital syndrome type VI: A confirmatory report. 61
29451301 2018
Oral-Facial-Digital Syndrome Type 1: Oral Findings in a 6-Year-Old Girl. 61
29707412 2018
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function. 61
29127725 2018
Successful treatment of facial milia in an infant with orofaciodigital syndrome type 1. 61
29205474 2018
Oral-facial-digital syndrome (OFD): 31-year follow-up management and monitoring. 61
29460530 2018
Tectonic Proteins Are Important Players in Non-Motile Ciliopathies. 61
30286481 2018
Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development. 61
28954202 2018
Analysis of Parent-of-Origin Effects on the X Chromosome in Asian and European Orofacial Cleft Triads Identifies Associations with DMD, FGF13, EGFL6, and Additional Loci at Xp22.2. 61
29520293 2018
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. 61
28711741 2017
Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI). 61
28631893 2017
Role of Primary Cilia in Odontogenesis. 61
28605602 2017
Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling. 61
28486600 2017
Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum. 61
28371265 2017
Renal cystic disease and associated ciliopathies. 61
28151755 2017
Dental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability. 61
28043400 2017
Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation. 61
28191358 2017
Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network. 61
27798113 2017
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). 61
27530628 2016
Micrognathia in mouse models of ciliopathies. 61
27913686 2016
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. 61
27060890 2016
A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report. 61
27957444 2016
Congenital Midline Tongue Base Mass in An Infant: Lingual Hamartoma. 61
27790477 2016
Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease. 61
27131853 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 61
27208211 2016
Acquired Multiple Cysts of the Kidney in Neuroblastoma Survivors. 61
27016049 2016
Utilizing the chicken as an animal model for human craniofacial ciliopathies. 61
26597494 2016
Does Unc-GFP uncover ciliary structures in the rhabdomeric eye of Drosophila? 61
27235419 2016
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. 61
27231705 2016
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. 61
26982032 2016

Variations for Orofaciodigital Syndrome

ClinVar genetic disease variations for Orofaciodigital Syndrome:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM107 NM_183065.4(TMEM107):c.295_297TTC[1] (p.Phe100del)short repeat Pathogenic 212717 rs752171066 17:8077891-8077893 17:8174573-8174575
2 WDPCP NM_015910.7(WDPCP):c.526_527del (p.Leu176fs)deletion Likely pathogenic 690307 2:63664661-63664662 2:63437527-63437528
3 WDPCP NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)SNV Uncertain significance 162669 rs200322968 2:63719990-63719990 2:63492856-63492856

Expression for Orofaciodigital Syndrome

Search GEO for disease gene expression data for Orofaciodigital Syndrome.

Pathways for Orofaciodigital Syndrome

GO Terms for Orofaciodigital Syndrome

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.36 TMEM67 TMEM216 TCTN1 TBC1D32 OFD1 KIAA0753
2 cytoskeleton GO:0005856 10.18 TMEM67 TMEM216 TCTN1 SCLT1 OFD1 KIAA0753
3 centrosome GO:0005813 10.06 TMEM67 SCLT1 OFD1 KIAA0753 IFT88 IFT57
4 cilium GO:0005929 10 TMEM67 TMEM231 TMEM216 TMEM17 TMEM107 TBC1D32
5 cell projection GO:0042995 10 TMEM67 TMEM231 TMEM216 TMEM17 TMEM107 TCTN1
6 centriole GO:0005814 9.92 SCLT1 OFD1 KIAA0753 IFT88 CEP83 CEP290
7 ciliary basal body GO:0036064 9.91 OFD1 INTU IFT88 IFT57 CEP290 C2CD3
8 centriolar satellite GO:0034451 9.8 OFD1 KIAA0753 CEP290 C2CD3
9 ciliary membrane GO:0060170 9.78 TMEM67 TMEM231 TMEM17 TCTN3
10 ciliary transition fiber GO:0097539 9.63 SCLT1 CEP83 CEP164
11 intraciliary transport particle B GO:0030992 9.52 IFT88 IFT57
12 MKS complex GO:0036038 9.5 TMEM67 TMEM231 TMEM216 TMEM17 TMEM107 TCTN1
13 ciliary transition zone GO:0035869 9.23 TMEM67 TMEM231 TMEM216 TMEM17 TMEM107 TCTN1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 non-motile cilium assembly GO:1905515 9.86 TMEM216 TMEM17 TMEM107 TBC1D32 INTU IFT88
2 ciliary basal body-plasma membrane docking GO:0097711 9.85 TMEM67 TMEM216 TCTN3 TCTN1 SCLT1 OFD1
3 cell projection organization GO:0030030 9.83 TMEM67 TMEM231 TMEM216 TMEM17 TMEM107 TCTN3
4 embryonic digit morphogenesis GO:0042733 9.8 TMEM231 TMEM107 TBC1D32 INTU CPLANE1 C2CD3
5 smoothened signaling pathway GO:0007224 9.77 TMEM231 TMEM17 TCTN3 TBC1D32 IFT57
6 G2/M transition of mitotic cell cycle GO:0000086 9.72 OFD1 CEP290 CEP164
7 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.67 OFD1 CEP290 CEP164
8 neural tube development GO:0021915 9.65 TBC1D32 INTU C2CD3
9 regulation of smoothened signaling pathway GO:0008589 9.63 TCTN1 INTU C2CD3
10 protein localization to centrosome GO:0071539 9.61 KIAA0753 CEP83 C2CD3
11 protein localization to ciliary transition zone GO:1904491 9.58 TMEM107 TCTN1 CPLANE1
12 intraciliary transport GO:0042073 9.56 IFT88 IFT57
13 cilium assembly GO:0060271 9.55 TMEM67 TMEM231 TMEM216 TMEM17 TMEM107 TCTN3
14 motile cilium assembly GO:0044458 9.54 INTU IFT57
15 centriole replication GO:0007099 9.52 OFD1 KIAA0753
16 establishment of planar polarity GO:0001736 9.51 INTU CPLANE1

Sources for Orofaciodigital Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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