OFD1
MCID: ORF037
MIFTS: 55

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

Aliases & Classifications for Orofaciodigital Syndrome I

MalaCards integrated aliases for Orofaciodigital Syndrome I:

Name: Orofaciodigital Syndrome I 58 12 25 54 76 15 74
Ofd1 58 25 54 76
Oral-Facial-Digital Syndrome, Type I 58 76 56
Oral-Facial-Digital Syndrome 1 54 76 13
Orofaciodigital Syndrome 1 12 54 76
Papillon-Leage and Psaume Syndrome 58 76
Orofaciodigital Syndromes 45 74
Ofds I 58 76
Oral-Facial-Digital Syndrome Type I 25
Oral Facial Digital Syndrome Type 1 54
Oral-Facial-Digital Syndrome Type 1 54
Orofaciodigital Syndrome, Type I 41
Orofaciodigital Syndrome Type I 12
Orofaciodigital Syndrome Type 1 74
Papillon-Leage-Psaume Syndrome 12
Oral Facial Digital Syndrome 1 54
Ofd Syndrome 1 54
Ofds 1 54

Characteristics:

OMIM:

58
Inheritance:
x-linked dominant

Miscellaneous:
lethal in males


HPO:

33
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:



Summaries for Orofaciodigital Syndrome I

NIH Rare Diseases : 54 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 orofaciodigital syndrome and simpson-golabi-behmel syndrome, type 2, 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 is Organelle biogenesis and maintenance. The drug Liver Extracts has 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 : 58 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 : 76 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 : 77 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 66)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome 32.4 OFD1 TMEM107
2 simpson-golabi-behmel syndrome, type 2 32.1 CEP290 OFD1 RPGR
3 retinitis pigmentosa 31.3 CEP290 IFT88 OFD1 RPGR
4 joubert syndrome 1 30.8 CEP290 IFT88 OFD1 RPGR TMEM107
5 orofaciodigital syndrome xiv 12.5
6 orofaciodigital syndrome ix 12.4
7 orofaciodigital syndrome x 12.4
8 orofaciodigital syndrome xi 12.4
9 orofaciodigital syndrome viii 12.4
10 orofaciodigital syndrome xvi 12.4
11 orofaciodigital syndrome xv 12.4
12 orofaciodigital syndrome xvii 12.4
13 orofaciodigital syndrome 12 12.3
14 orofaciodigital syndrome 13 12.3
15 orofaciodigital syndrome xviii 12.3
16 orofaciodigital syndrome vii 12.3
17 joubert syndrome 10 12.0
18 retinitis pigmentosa 23 11.9
19 mohr syndrome 11.9
20 orofaciodigital syndrome v 11.6
21 simpson-golabi-behmel syndrome 11.3
22 cleft palate, isolated 11.1
23 coloboma of optic nerve 11.1
24 tritanopia 11.1
25 microcephaly 6, primary, autosomal recessive 11.1
26 meckel syndrome, type 6 11.1
27 bardet-biedl syndrome 4 11.1
28 nephronophthisis 19 11.1
29 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 11.1
30 brachydactyly 11.1
31 cerebellar agenesis 11.1
32 orofaciodigital syndrome iv 11.1
33 sugarman brachydactyly 11.0
34 oral-facial-digital syndrome with short stature and brachymesophalangy 11.0
35 orofaciodigital syndrome iii 10.9
36 orofaciodigital syndrome vi 10.9
37 x-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome 10.9
38 short-rib thoracic dysplasia 6 with or without polydactyly 10.2
39 osteofibrous dysplasia 10.2
40 leber congenital amaurosis 4 10.1
41 retinitis 10.1
42 alopecia 10.1
43 cystic kidney disease 10.1
44 cleft lip 10.1
45 precocious puberty 10.1
46 porencephaly 10.1
47 corpus callosum, agenesis of, with abnormal genitalia 10.0
48 nevus comedonicus 10.0
49 heart disease 10.0
50 dandy-walker complex 10.0

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:

33 (show top 50) (show all 86)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 hallmark (90%) HP:0000316
2 frontal bossing 33 hallmark (90%) HP:0002007
3 high palate 33 hallmark (90%) HP:0000218
4 wide nasal bridge 33 hallmark (90%) HP:0000431
5 broad alveolar ridges 33 hallmark (90%) HP:0000187
6 median cleft lip 33 hallmark (90%) HP:0000161
7 accessory oral frenulum 33 hallmark (90%) HP:0000191
8 lobulated tongue 33 hallmark (90%) HP:0000180
9 finger syndactyly 33 frequent (33%) HP:0006101
10 intellectual disability 33 frequent (33%) HP:0001249
11 seizures 33 frequent (33%) HP:0001250
12 ataxia 33 frequent (33%) HP:0001251
13 cleft palate 33 frequent (33%) HP:0000175
14 cone-shaped epiphysis 33 frequent (33%) HP:0010579
15 reduced bone mineral density 33 frequent (33%) HP:0004349
16 short toe 33 frequent (33%) HP:0001831
17 underdeveloped nasal alae 33 frequent (33%) HP:0000430
18 clinodactyly of the 5th finger 33 frequent (33%) HP:0004209
19 downslanted palpebral fissures 33 frequent (33%) HP:0000494
20 foot polydactyly 33 frequent (33%) HP:0001829
21 hypodontia 33 frequent (33%) HP:0000668
22 facial asymmetry 33 frequent (33%) HP:0000324
23 bifid tongue 33 frequent (33%) HP:0010297
24 hamartoma of tongue 33 frequent (33%) HP:0011802
25 tongue nodules 33 frequent (33%) HP:0000199
26 agenesis of corpus callosum 33 occasional (7.5%) HP:0001274
27 hypertension 33 occasional (7.5%) HP:0000822
28 tremor 33 occasional (7.5%) HP:0001337
29 hearing impairment 33 occasional (7.5%) HP:0000365
30 chronic otitis media 33 occasional (7.5%) HP:0000389
31 open bite 33 occasional (7.5%) HP:0010807
32 coarse hair 33 occasional (7.5%) HP:0002208
33 renal insufficiency 33 occasional (7.5%) HP:0000083
34 proteinuria 33 occasional (7.5%) HP:0000093
35 micrognathia 33 occasional (7.5%) HP:0000347
36 epicanthus 33 occasional (7.5%) HP:0000286
37 dry skin 33 occasional (7.5%) HP:0000958
38 alopecia 33 occasional (7.5%) HP:0001596
39 dystonia 33 occasional (7.5%) HP:0001332
40 exocrine pancreatic insufficiency 33 occasional (7.5%) HP:0001738
41 telecanthus 33 occasional (7.5%) HP:0000506
42 multicystic kidney dysplasia 33 occasional (7.5%) HP:0000003
43 pancreatic cysts 33 very rare (1%) HP:0001737
44 brachydactyly 33 occasional (7.5%) HP:0001156
45 abnormality of dental enamel 33 occasional (7.5%) HP:0000682
46 choanal atresia 33 occasional (7.5%) HP:0000453
47 odontogenic neoplasm 33 occasional (7.5%) HP:0100612
48 preaxial hand polydactyly 33 occasional (7.5%) HP:0001177
49 hydronephrosis 33 occasional (7.5%) HP:0000126
50 sparse hair 33 occasional (7.5%) HP:0008070

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
epicanthus
telecanthus
downslanting palpebral fissures

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

Neurologic Central Nervous System:
hydrocephalus
seizures
porencephaly
hypothalamic hamartoma
arachnoid cysts
more
Growth Height:
short stature

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

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
Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
high-arched palate
thickened alveolar ridges
hyperplastic oral frenuli
buccal frenuli
more
Skin Nails Hair Hair:
alopecia
dry, rough, sparse hair

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

GenomeRNAi Phenotypes related to Orofaciodigital Syndrome I according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Moderately decreased NFAT1-GFP nuclear translocation GR00359-A 8.8 CLPS OFD1 RPGR

MGI Mouse Phenotypes related to Orofaciodigital Syndrome I:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.8 CEP290 CLPS IFT88 OFD1 TMEM107
2 growth/size/body region MP:0005378 9.72 CEP290 CLPS IFT88 OFD1 TMEM107
3 digestive/alimentary MP:0005381 9.67 CLPS IFT88 OFD1 TMEM107
4 nervous system MP:0003631 9.65 CEP290 IFT88 OFD1 RPGR TMEM107
5 renal/urinary system MP:0005367 9.46 CEP290 IFT88 OFD1 TMEM107
6 skeleton MP:0005390 9.26 CEP290 IFT88 OFD1 TMEM107
7 vision/eye MP:0005391 8.92 CEP290 IFT88 RPGR TMEM107

Drugs & Therapeutics for Orofaciodigital Syndrome I

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


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

Interventional clinical trials:


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

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:

42
Kidney, Tongue, Liver, Brain, Pancreas, Bone, Cerebellum

Publications for Orofaciodigital Syndrome I

Articles related to Orofaciodigital Syndrome I:

(show all 18)
# Title Authors Year
1
A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. ( 30895720 )
2019
2
Clinical spectrum of male patients with OFD1 mutations. ( 30401917 )
2019
3
Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1. ( 30581852 )
2018
4
Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1. ( 30484888 )
2018
5
Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation. ( 28191358 )
2017
6
Basal body positioning and anchoring in the multiciliated cell Paramecium tetraurelia: roles of OFD1 and VFL3. ( 28367320 )
2017
7
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. ( 27231705 )
2016
8
A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report. ( 27957444 )
2016
9
OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models. ( 27196396 )
2016
10
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. ( 24884629 )
2014
11
Ofd1 is required in limb bud patterning and endochondral bone development. ( 20920500 )
2011
12
Regional selection acting on the OFD1 gene family. ( 22022562 )
2011
13
Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway. ( 20444807 )
2010
14
Oxygen-dependent binding of Nro1 to the prolyl hydroxylase Ofd1 regulates SREBP degradation in yeast. ( 19158663 )
2009
15
Oxygen-regulated degradation of fission yeast SREBP by Ofd1, a prolyl hydroxylase family member. ( 18418381 )
2008
16
Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts. ( 15221448 )
2004
17
Orofaciodigital syndrome I: a case report. ( 9151628 )
1996
18
Orofaciodigital syndrome I (OFD I). ( 5173222 )
1971

Variations for Orofaciodigital Syndrome I

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

76
# 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

ClinVar genetic disease variations for Orofaciodigital Syndrome I:

6 (show top 50) (show all 367)
# Gene Variation Type Significance SNP ID Assembly Location
1 OFD1 NM_003611.2(OFD1): c.231A> C (p.Leu77Phe) single nucleotide variant Uncertain significance rs587784232 GRCh37 Chromosome X, 13754716: 13754716
2 OFD1 NM_003611.2(OFD1): c.231A> C (p.Leu77Phe) single nucleotide variant Uncertain significance rs587784232 GRCh38 Chromosome X, 13736597: 13736597
3 OFD1 NM_003611.2(OFD1): c.714T> C (p.Tyr238=) single nucleotide variant Benign rs139848884 GRCh37 Chromosome X, 13764958: 13764958
4 OFD1 NM_003611.2(OFD1): c.714T> C (p.Tyr238=) single nucleotide variant Benign rs139848884 GRCh38 Chromosome X, 13746839: 13746839
5 OFD1 NM_003611.2(OFD1): c.1020G> A (p.Glu340=) single nucleotide variant Benign rs5979959 GRCh37 Chromosome X, 13769452: 13769452
6 OFD1 NM_003611.2(OFD1): c.1020G> A (p.Glu340=) single nucleotide variant Benign rs5979959 GRCh38 Chromosome X, 13751333: 13751333
7 OFD1 NM_003611.2(OFD1): c.1264A> G (p.Lys422Glu) single nucleotide variant Benign rs61746932 GRCh37 Chromosome X, 13774739: 13774739
8 OFD1 NM_003611.2(OFD1): c.1264A> G (p.Lys422Glu) single nucleotide variant Benign rs61746932 GRCh38 Chromosome X, 13756620: 13756620
9 OFD1 NM_003611.2(OFD1): c.1654+8A> G single nucleotide variant Benign rs200767363 GRCh37 Chromosome X, 13776575: 13776575
10 OFD1 NM_003611.2(OFD1): c.1654+8A> G single nucleotide variant Benign rs200767363 GRCh38 Chromosome X, 13758456: 13758456
11 OFD1 NM_003611.2(OFD1): c.2033C> G (p.Ala678Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143954823 GRCh37 Chromosome X, 13778612: 13778612
12 OFD1 NM_003611.2(OFD1): c.2033C> G (p.Ala678Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143954823 GRCh38 Chromosome X, 13760493: 13760493
13 OFD1 NM_003611.2(OFD1): c.2052C> T (p.Ser684=) single nucleotide variant Benign rs61742891 GRCh37 Chromosome X, 13778631: 13778631
14 OFD1 NM_003611.2(OFD1): c.2052C> T (p.Ser684=) single nucleotide variant Benign rs61742891 GRCh38 Chromosome X, 13760512: 13760512
15 OFD1 NM_003611.2(OFD1): c.2376G> A (p.Glu792=) single nucleotide variant Benign rs183241931 GRCh37 Chromosome X, 13779319: 13779319
16 OFD1 NM_003611.2(OFD1): c.2376G> A (p.Glu792=) single nucleotide variant Benign rs183241931 GRCh38 Chromosome X, 13761200: 13761200
17 OFD1 NM_003611.2(OFD1): c.2663A> C (p.Lys888Thr) single nucleotide variant Benign rs149647255 GRCh37 Chromosome X, 13785309: 13785309
18 OFD1 NM_003611.2(OFD1): c.2663A> C (p.Lys888Thr) single nucleotide variant Benign rs149647255 GRCh38 Chromosome X, 13767190: 13767190
19 OFD1 NM_003611.2(OFD1): c.1294A> G (p.Lys432Glu) single nucleotide variant Uncertain significance rs142352920 GRCh38 Chromosome X, 13756650: 13756650
20 OFD1 NM_003611.2(OFD1): c.1294A> G (p.Lys432Glu) single nucleotide variant Uncertain significance rs142352920 GRCh37 Chromosome X, 13774769: 13774769
21 OFD1 NM_003611.2(OFD1): c.(?_-1)_(*1_?)dup duplication Uncertain significance
22 OFD1 NM_003611.2(OFD1): c.936-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs199902986 GRCh37 Chromosome X, 13769366: 13769366
23 OFD1 NM_003611.2(OFD1): c.936-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs199902986 GRCh38 Chromosome X, 13751247: 13751247
24 OFD1 NM_003611.2(OFD1): c.2052C> G (p.Ser684=) single nucleotide variant Benign rs61742891 GRCh37 Chromosome X, 13778631: 13778631
25 OFD1 NM_003611.2(OFD1): c.2052C> G (p.Ser684=) single nucleotide variant Benign rs61742891 GRCh38 Chromosome X, 13760512: 13760512
26 OFD1 NM_003611.2(OFD1): c.2168C> T (p.Ser723Leu) single nucleotide variant Uncertain significance rs746300545 GRCh37 Chromosome X, 13778747: 13778747
27 OFD1 NM_003611.2(OFD1): c.2168C> T (p.Ser723Leu) single nucleotide variant Uncertain significance rs746300545 GRCh38 Chromosome X, 13760628: 13760628
28 OFD1 NM_003611.2(OFD1): c.2789_2793delTAAAA (p.Ile930Lysfs) deletion Pathogenic rs797044945 GRCh37 Chromosome X, 13786204: 13786208
29 OFD1 NM_003611.2(OFD1): c.2789_2793delTAAAA (p.Ile930Lysfs) deletion Pathogenic rs797044945 GRCh38 Chromosome X, 13768085: 13768089
30 TMEM107 NM_032354.4(TMEM107): c.316_318delTTC (p.Phe106del) deletion Pathogenic rs752171066 GRCh37 Chromosome 17, 8077891: 8077893
31 TMEM107 NM_032354.4(TMEM107): c.316_318delTTC (p.Phe106del) deletion Pathogenic rs752171066 GRCh38 Chromosome 17, 8174573: 8174575
32 OFD1 NM_003611.2(OFD1): c.1399C> A (p.Arg467Ser) single nucleotide variant Uncertain significance rs140561107 GRCh38 Chromosome X, 13756755: 13756755
33 OFD1 NM_003611.2(OFD1): c.1399C> A (p.Arg467Ser) single nucleotide variant Uncertain significance rs140561107 GRCh37 Chromosome X, 13774874: 13774874
34 OFD1 NM_003611.2(OFD1): c.355C> A (p.Pro119Thr) single nucleotide variant Likely benign rs202103941 GRCh38 Chromosome X, 13738888: 13738888
35 OFD1 NM_003611.2(OFD1): c.355C> A (p.Pro119Thr) single nucleotide variant Likely benign rs202103941 GRCh37 Chromosome X, 13757007: 13757007
36 OFD1 NM_003611.2(OFD1): c.1007dupA (p.Ser337Glufs) duplication Conflicting interpretations of pathogenicity rs749448671 GRCh37 Chromosome X, 13769439: 13769439
37 OFD1 NM_003611.2(OFD1): c.1007dupA (p.Ser337Glufs) duplication Conflicting interpretations of pathogenicity rs749448671 GRCh38 Chromosome X, 13751320: 13751320
38 OFD1 NM_003611.2(OFD1): c.1303A> C (p.Ser435Arg) single nucleotide variant Pathogenic rs122460150 GRCh37 Chromosome X, 13774778: 13774778
39 OFD1 NM_003611.2(OFD1): c.1303A> C (p.Ser435Arg) single nucleotide variant Pathogenic rs122460150 GRCh38 Chromosome X, 13756659: 13756659
40 OFD1 NM_003611.2(OFD1): c.312+1delG deletion Pathogenic rs312262822 GRCh37 Chromosome X, 13754798: 13754798
41 OFD1 NM_003611.2(OFD1): c.312+1delG deletion Pathogenic rs312262822 GRCh38 Chromosome X, 13736679: 13736679
42 OFD1 NM_003611.2(OFD1): c.413-10T> G single nucleotide variant Pathogenic rs312262833 GRCh37 Chromosome X, 13762524: 13762524
43 OFD1 NM_003611.2(OFD1): c.413-10T> G single nucleotide variant Pathogenic rs312262833 GRCh38 Chromosome X, 13744405: 13744405
44 OFD1 NM_003611.2(OFD1): c.1887_1888insAT (p.Asn630Ilefs) insertion Pathogenic rs312262886 GRCh37 Chromosome X, 13778466: 13778467
45 OFD1 NM_003611.2(OFD1): c.1887_1888insAT (p.Asn630Ilefs) insertion Pathogenic rs312262886 GRCh38 Chromosome X, 13760347: 13760348
46 OFD1 NG_008872.1: g.16740_20819del4080 deletion no interpretation for the single variant GRCh37 Chromosome X, 13764571: 13768650
47 OFD1 NG_008872.1: g.16740_20819del4080 deletion no interpretation for the single variant GRCh38 Chromosome X, 13746452: 13750531
48 OFD1 NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs) duplication Pathogenic rs312262890 GRCh37 Chromosome X, 13778702: 13778705
49 OFD1 NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs) duplication Pathogenic rs312262890 GRCh38 Chromosome X, 13760583: 13760586
50 OFD1 NM_003611.2(OFD1): c.688_705del18 (p.Ile230_Lys235del) deletion Pathogenic rs398122866 GRCh37 Chromosome X, 13764932: 13764949

Expression for Orofaciodigital Syndrome I

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

Pathways for Orofaciodigital Syndrome I

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 CEP290 IFT88 OFD1

GO Terms for Orofaciodigital Syndrome I

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 CEP290 IFT88 OFD1 RPGR
2 microtubule organizing center GO:0005815 9.65 CEP290 OFD1 RPGR
3 centrosome GO:0005813 9.56 CEP290 IFT88 OFD1 RPGR
4 cell projection GO:0042995 9.55 CEP290 IFT88 OFD1 RPGR TMEM107
5 motile cilium GO:0031514 9.51 IFT88 RPGR
6 centriole GO:0005814 9.5 CEP290 IFT88 OFD1
7 sperm flagellum GO:0036126 9.46 IFT88 RPGR
8 ciliary transition zone GO:0035869 9.43 CEP290 TMEM107
9 centriolar satellite GO:0034451 9.4 CEP290 OFD1
10 MKS complex GO:0036038 9.37 CEP290 TMEM107
11 ciliary basal body GO:0036064 9.26 CEP290 IFT88 OFD1 RPGR
12 cilium GO:0005929 9.02 CEP290 IFT88 OFD1 RPGR TMEM107

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

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.37 CEP290 OFD1
2 cilium assembly GO:0060271 9.35 CEP290 IFT88 OFD1 RPGR TMEM107
3 ciliary basal body-plasma membrane docking GO:0097711 9.32 CEP290 OFD1
4 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.26 CEP290 OFD1
5 non-motile cilium assembly GO:1905515 9.16 IFT88 TMEM107
6 cell projection organization GO:0030030 9.02 CEP290 IFT88 OFD1 RPGR TMEM107

Sources for Orofaciodigital Syndrome I

3 CDC
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