OFD8
MCID: ORF040
MIFTS: 59

Orofaciodigital Syndrome Viii (OFD8)

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 Viii

MalaCards integrated aliases for Orofaciodigital Syndrome Viii:

Name: Orofaciodigital Syndrome Viii 58 12 54
Edwards Syndrome 58 12 77 54 26 60 38 56 15
Trisomy 18 12 54 26 60 15 74
Complete Trisomy 18 Syndrome 12 26 30 74
Orofaciodigital Syndrome 8 54 30 45 74
Ofd8 58 12 54 60
Oral-Facial-Digital Syndrome with Hypoplastic Epiglottis 58 54
Oral-Facial-Digital Syndrome Type 8 54 60
Orofaciodigital Syndrome Type 8 54 60
Trisomy 18 Syndrome 26 45
Cleft Lip/palate with Abnormal Thumbs and Microcephaly 74
Oral-Facial-Digital Syndrome, Edwards Type 60
Oral-Facial-Digital Syndrome, Type Viii 58
Orofaciodigital Syndrome, Edwards Type 60
Oral Facial Digital Syndrome Type 8 54
Oral Facial Digital Syndrome 8 54
Chromosome 18 Duplication 60
Chromosome 18 Trisomy 54
Trisomy E Syndrome 26
Ofd Syndrome 8 54
E3 Trisomy 12
18 Trisomy 54
Ofds Viii 58
Ofds 8 54

Characteristics:

Orphanet epidemiological data:

60
trisomy 18
Inheritance: Not applicable; Prevalence: 1-9/100000 (Austria),1-9/100000 (Hungary),1-5/10000 (Ireland),1-9/100000 (Italy),1-5/10000 (Netherlands),1-5/10000 (Norway),1-9/100000 (Europe),1-9/1000000 (Europe),1-9/100000 (France),1-9/100000 (Belgium),1-9/100000 (Germany),1-5/10000 (Malta),1-9/100000 (Poland),1-9/100000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-9/100000 (Ukraine),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (Japan),1-5/10000; Age of onset: Antenatal,Neonatal; Age of death: early childhood;
orofaciodigital syndrome type 8
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Miscellaneous:
mild manifestations in carrier females (cleft lip, cleft tongue)

Inheritance:
x-linked recessive


HPO:

33
orofaciodigital syndrome viii:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Viii

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2755Disease definitionOral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.EpidemiologyThe syndrome has been described in one family with four affected males in three generations.Clinical descriptionIncreased susceptibility to respiratory infections has been noted.EtiologyX-linked recessive transmission has been suggested, but the causative gene has not yet been identified.Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome Viii, also known as edwards syndrome, is related to chromosomal triplication and triploidy. An important gene associated with Orofaciodigital Syndrome Viii is AFP (Alpha Fetoprotein), and among its related pathways/superpathways are Apoptosis and Autophagy and DNA damage_Role of Brca1 and Brca2 in DNA repair. The drug Chorionic Gonadotropin has been mentioned in the context of this disorder. Affiliated tissues include heart, tongue and testes, and related phenotypes are hypertelorism and muscular hypotonia

Disease Ontology : 12 An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has material basis in X-linked recessive inheritance.

Genetics Home Reference : 26 Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability.

Wikipedia : 77 Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by a third copy of all or part... more...

Description from OMIM: 300484

Related Diseases for Orofaciodigital Syndrome Viii

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

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 chromosomal triplication 30.6 AFP CGA MALT1
2 triploidy 30.5 AFP CGA PAPPA
3 lymphoma, mucosa-associated lymphoid type 29.8 BCL10 BIRC3 MALT1
4 marginal zone b-cell lymphoma 29.5 BCL10 BIRC3 MALT1
5 hypoplastic left heart syndrome 11.5
6 chromosome 18p duplication 11.3
7 orofaciodigital syndrome 11.2
8 developmental dysplasia of the hip 1 11.2
9 pancreas, annular 11.2
10 microtia-anotia 11.2
11 chromosome 18q duplication 11.2
12 patau syndrome 11.0
13 intermediate malignant teratoma 10.3 AFP PAPPA
14 ovarian mixed germ cell neoplasm 10.3 AFP CGA
15 polyembryoma 10.3 AFP CGA
16 sacrococcygeal teratoma 10.3 AFP CGA
17 mixed germ cell tumor 10.3 AFP CGA
18 hepatoblastoma 10.3
19 testicular seminoma 10.3 AFP CGA
20 mature teratoma 10.3 AFP PCNA
21 hydrocele 10.3 AFP CGA
22 pancreatic acinar cell adenocarcinoma 10.2 AFP BCL10
23 mosaic trisomy 13 10.2
24 neural tube defects 10.2
25 neural tube defects, folate-sensitive 10.2
26 lymphoma 10.2
27 primary cutaneous marginal zone b-cell lymphoma 10.2 BCL10 MALT1
28 hydatidiform mole, recurrent, 1 10.2 CGA PCNA
29 rh isoimmunization 10.2 AFP BCL10
30 placenta disease 10.2 AFP CGA PAPPA
31 gastric lymphoma 10.2 BCL10 PCNA
32 acinar cell carcinoma 10.2 AFP BCL10
33 prostate lymphoma 10.1 BIRC3 MALT1
34 down syndrome 10.1
35 ventricular septal defect 10.1
36 oligohydramnios 10.1 AFP CGA
37 anencephaly 10.0
38 cerebellar hypoplasia 10.0
39 wilms tumor 5 10.0
40 lung lymphoma 10.0 BIRC3 MALT1
41 wilms tumor 6 10.0
42 ectopia cordis 10.0
43 ectopic pregnancy 10.0 ADAM12 CGA PAPPA
44 chromosomal disease 10.0 AFP PAPPA
45 splenic marginal zone lymphoma 10.0 BIRC3 MALT1
46 omphalocele 9.9
47 microphthalmia 9.9
48 meckel diverticulum 9.9
49 split-hand/foot malformation 1 9.9
50 tracheoesophageal fistula with or without esophageal atresia 9.9

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



Diseases related to Orofaciodigital Syndrome Viii

Symptoms & Phenotypes for Orofaciodigital Syndrome Viii

Human phenotypes related to Orofaciodigital Syndrome Viii:

60 33 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 narrow palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000189
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
6 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
7 hypertonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001276
8 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
9 dolichocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000268
10 prominent occiput 60 33 hallmark (90%) Very frequent (99-80%) HP:0000269
11 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
12 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
13 atrial septal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001631
14 cachexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004326
15 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
16 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
17 narrow face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000275
18 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
19 ventricular septal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001629
20 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
21 triangular face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000325
22 microretrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000308
23 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
24 omphalocele 60 33 hallmark (90%) Very frequent (99-80%) HP:0001539
25 deviation of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004097
26 narrow pelvis bone 60 33 hallmark (90%) Very frequent (99-80%) HP:0003275
27 underdeveloped supraorbital ridges 60 33 hallmark (90%) Very frequent (99-80%) HP:0009891
28 pointed helix 60 33 hallmark (90%) Very frequent (99-80%) HP:0100810
29 delayed skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0002750
30 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
31 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
32 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
33 abnormality of the hip bone 60 33 frequent (33%) Frequent (79-30%) HP:0003272
34 webbed neck 60 33 frequent (33%) Frequent (79-30%) HP:0000465
35 non-midline cleft lip 60 33 frequent (33%) Frequent (79-30%) HP:0100335
36 abnormality of the fontanelles or cranial sutures 60 33 frequent (33%) Frequent (79-30%) HP:0000235
37 anal atresia 60 33 frequent (33%) Frequent (79-30%) HP:0002023
38 bilateral single transverse palmar creases 60 33 frequent (33%) Frequent (79-30%) HP:0007598
39 choanal atresia 60 33 frequent (33%) Frequent (79-30%) HP:0000453
40 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
41 oligohydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001562
42 hydronephrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000126
43 abnormality of female internal genitalia 60 33 frequent (33%) Frequent (79-30%) HP:0000008
44 congenital diaphragmatic hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000776
45 esophageal atresia 60 33 frequent (33%) Frequent (79-30%) HP:0002032
46 abnormal toenail morphology 60 33 frequent (33%) Frequent (79-30%) HP:0008388
47 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
48 abnormality of retinal pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007703
49 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
50 arnold-chiari malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002308

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
strabismus
telecanthus

Head And Neck Mouth:
cleft palate
median cleft lip
high-arched palate
oral frenula
tongue lobulation
more
Head And Neck Nose:
broad nasal tip
bifid nasal tip

Skeletal Feet:
syndactyly
bifid halluces
forked metatarsal

Neurologic Central Nervous System:
developmental delay

Respiratory Larynx:
hypoplastic epiglottis

Growth Height:
short stature

Respiratory Lung:
recurrent aspiration pneumonia

Skeletal Hands:
syndactyly
polydactyly

Skin Nails Hair Skin:
milia

Skeletal Limbs:
short tibiae

Head And Neck Teeth:
absent teeth

Clinical features from OMIM:

300484

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with paclitaxel GR00101-A-3 8.62 BIRC3 HCFC1

Drugs & Therapeutics for Orofaciodigital Syndrome Viii

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Chorionic Gonadotropin

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
2 Multiple Gestation Study Unknown status NCT02278536
3 Non-Invasive Chromosomal Evaluation of Trisomy Study Unknown status NCT02201862
4 Non-Invasive Screening for Fetal Aneuploidy Completed NCT00847990
5 Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood Completed NCT01925742 Not Applicable
6 Serum Sample Collection to Determine Analytical Performance Characteristics of the ADVIA Centaur PAPPA and BhCG Assays Completed NCT03629795
7 Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00971334
8 High Risk Multiple Gestation Study Completed NCT02278874
9 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
10 Prenatal Screening for Down Syndrome With DNAFirst Completed NCT01966991
11 MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy Completed NCT01122524
12 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
13 Comparison of Aneuploidy Risk Evaluations Completed NCT01663350
14 Non-invasive Prenatal Diagnostic Validation Study Completed NCT01574781
15 Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA Recruiting NCT02109770
16 Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
17 Ensuring Patients' Informed Access to Noninvasive Prenatal Testing Recruiting NCT03420274 Not Applicable
18 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Recruiting NCT03680651
19 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
20 Non-Invasive Screening for Fetal Aneuploidy Active, not recruiting NCT02317965
21 Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies Active, not recruiting NCT03200041 Not Applicable
22 Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial Active, not recruiting NCT01545674
23 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Active, not recruiting NCT02381457
24 VAlidation of a Lower Cost aneUploidy scrEen Enrolling by invitation NCT03087357
25 Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13) Enrolling by invitation NCT03559374
26 Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies Terminated NCT02226315

Search NIH Clinical Center for Orofaciodigital Syndrome Viii

Cochrane evidence based reviews: trisomy 18 syndrome

Genetic Tests for Orofaciodigital Syndrome Viii

Genetic tests related to Orofaciodigital Syndrome Viii:

# Genetic test Affiliating Genes
1 Complete Trisomy 18 Syndrome 30
2 Orofaciodigital Syndrome 8 30

Anatomical Context for Orofaciodigital Syndrome Viii

MalaCards organs/tissues related to Orofaciodigital Syndrome Viii:

42
Heart, Tongue, Testes, Bone, B Cells, Placenta, Eye

Publications for Orofaciodigital Syndrome Viii

Articles related to Orofaciodigital Syndrome Viii:

(show top 50) (show all 55)
# Title Authors Year
1
Hypoxia due to positive pressure ventilation in Edwards' syndrome: A case report. ( 29125001 )
2018
2
Strawberry skull in Edwards syndrome. ( 30363185 )
2017
3
Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome. ( 27490343 )
2016
4
Two-Dimensional Differential Gel Electrophoresis to Identify Protein Biomarkers in Amniotic Fluid of Edwards Syndrome (Trisomy 18) Pregnancies. ( 26752631 )
2016
5
A tumor profile in Edwards syndrome (trisomy 18). ( 27474103 )
2016
6
Anesthetic management of a patient with Edwards syndrome. ( 27525073 )
2016
7
Edwards' syndrome. ( 27927129 )
2016
8
When Cri du chat syndrome meets Edwards syndrome. ( 25385231 )
2015
9
Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures. ( 26324424 )
2015
10
Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil. ( 25388684 )
2015
11
Phenotypic extremes in liveborn monozygotic twins with mosaic Edwards syndrome. ( 26561224 )
2015
12
Aberrant "Barbed-Wire" Nuclear Projections of Neutrophils in Trisomy 18 (Edwards Syndrome). ( 26770846 )
2015
13
Ruptured omphalocele mimicking gastroschisis in a fetus with Edwards syndrome. ( 24132880 )
2014
14
Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. ( 25593701 )
2014
15
Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome). ( 24478819 )
2014
16
A very rare entity of diabetes insipidus associated with Edwards syndrome. ( 24074370 )
2013
17
Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. ( 23949924 )
2013
18
Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations. ( 23657517 )
2013
19
Craniofacial abnormalities among patients with Edwards Syndrome. ( 24142310 )
2013
20
Partial duplication of 18q including a distal critical region for Edwards Syndrome in a patient with normal phenotype and oligoasthenospermia: case report. ( 21228546 )
2011
21
[Clinical courses of trisomy 18 (Edwards syndrome) - an update]. ( 21755483 )
2011
22
Edwards syndrome in a 6-year old girl. ( 20150875 )
2010
23
Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome. ( 21152411 )
2010
24
Unusual clinical history of a male infant with Edwards syndrome. ( 18575830 )
2009
25
Edwards syndrome with double trisomy. ( 18695855 )
2008
26
Maternal serum ADAM12 levels in Down and Edwards' syndrome pregnancies at 9-12 weeks' gestation. ( 16752438 )
2006
27
Prenatally diagnosable differences in the cellular immunity of fetuses with Down's and Edwards' syndrome. ( 16969005 )
2006
28
Characterisation of a 19-year-old "long-term survivor" with Edwards syndrome. ( 12872820 )
2003
29
A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin. ( 9272714 )
1997
30
Triple test for prenatal detection of Edwards syndrome (trisomy 18). ( 8624894 )
1996
31
Parental origin of the extra chromosome 18 in Edwards syndrome. ( 8766143 )
1996
32
[Trisomy 13 syndrome (Patau syndrome), trisomy 18 syndrome (Edwards syndrome), Down syndrome (trisomy 21 syndrome), Turner syndrome (XO gonadal dysgenesis)]. ( 9047985 )
1996
33
Down's syndrome, Edwards' syndrome, Patau's syndrome--synthesis of glycosaminoglycans. ( 8034299 )
1994
34
Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. ( 8079991 )
1994
35
Trisomy 18-Edwards syndrome: a report of three patients. ( 8131193 )
1993
36
Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome). ( 8225314 )
1993
37
Trisomy 18 (Edwards syndrome): report of two cases. ( 1295656 )
1992
38
Edwards' syndrome after the replacement of cryopreserved-thawed embryos. ( 1986963 )
1991
39
Ankyloblepharon filiforme adnatum in trisomy 18 Edwards syndrome. ( 2277391 )
1990
40
Microphthalmos with cyst and Edwards' syndrome. ( 2405684 )
1990
41
[The gene-dose effect for peptidase A on the erythrocytes of a patient with Edwards' syndrome]. ( 2075105 )
1990
42
Misdiagnosis of omphalocele associated with Edwards syndrome and congenital heart disease. ( 3303007 )
1987
43
Antenatal ultrasonographic diagnosis of trisomy 18 (Edwards syndrome). ( 3319733 )
1987
44
Ocular pathology in trisomy 18 (Edwards' syndrome). ( 3725316 )
1986
45
Trisomy 18 (Edwards syndrome) in Delaware. ( 6840358 )
1983
46
Trisomy 18 (Edwards syndrome) in Delaware. ( 7160501 )
1982
47
Muscular and other abnormalities in a case of Edwards' syndrome (18-trisomy). ( 524303 )
1979
48
Prevalence of Edwards' syndrome. Clustering and seasonal variation? ( 1112599 )
1975
49
The clinical and genetic picture of trisomy 18 (Edwards' syndrome). ( 4129502 )
1973
50
Ocular pathology in trisomy 18(Edwards' syndrome). ( 4725009 )
1973

Variations for Orofaciodigital Syndrome Viii

Copy number variations for Orofaciodigital Syndrome Viii from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 119212 18 1 78077248 Copy number Trisomy 18 syndrome

Expression for Orofaciodigital Syndrome Viii

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

Pathways for Orofaciodigital Syndrome Viii

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

# Super pathways Score Top Affiliating Genes
1 11.6 BCL10 BIRC3 MALT1
2 11.03 BCL10 MALT1 PCNA
3 10.8 BCL10 BIRC3 MALT1
4 10.32 BCL10 MALT1

GO Terms for Orofaciodigital Syndrome Viii

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.26 BCL10 BIRC3 HCFC1 MALT1
2 CBM complex GO:0032449 8.62 BCL10 MALT1

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

# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.71 BCL10 BIRC3 MALT1 PCNA
2 regulation of apoptotic process GO:0042981 9.63 BCL10 BIRC3 MALT1
3 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.54 BCL10 BIRC3 MALT1
4 lipopolysaccharide-mediated signaling pathway GO:0031663 9.43 BCL10 MALT1
5 positive regulation of T cell activation GO:0050870 9.32 BCL10 MALT1
6 response to molecule of bacterial origin GO:0002237 9.26 BCL10 MALT1
7 response to fungus GO:0009620 9.16 BCL10 MALT1
8 positive regulation of protein ubiquitination GO:0031398 9.13 BCL10 BIRC3 MALT1
9 regulation of T cell receptor signaling pathway GO:0050856 8.62 BCL10 MALT1

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

# Name GO ID Score Top Affiliating Genes
1 kinase activator activity GO:0019209 8.62 BCL10 MALT1

Sources for Orofaciodigital Syndrome Viii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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