OFD8
MCID: ORF040
MIFTS: 56

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, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Orofaciodigital Syndrome Viii

MalaCards integrated aliases for Orofaciodigital Syndrome Viii:

Name: Orofaciodigital Syndrome Viii 57 12 53
Edwards Syndrome 57 12 75 53 25 59 37 55 15
Trisomy 18 12 53 25 59 15 72
Complete Trisomy 18 Syndrome 12 25 29 72
Orofaciodigital Syndrome 8 53 29 44 72
Ofd8 57 12 53 59
Oral-Facial-Digital Syndrome with Hypoplastic Epiglottis 57 53
Oral-Facial-Digital Syndrome Type 8 53 59
Orofaciodigital Syndrome Type 8 53 59
Trisomy 18 Syndrome 25 44
Cleft Lip/palate with Abnormal Thumbs and Microcephaly 72
Oral-Facial-Digital Syndrome, Edwards Type 59
Oral-Facial-Digital Syndrome, Type Viii 57
Orofaciodigital Syndrome, Edwards Type 59
Oral Facial Digital Syndrome Type 8 53
Oral Facial Digital Syndrome 8 53
Chromosome 18 Duplication 59
Chromosome 18 Trisomy 53
Trisomy E Syndrome 25
Ofd Syndrome 8 53
E3 Trisomy 12
18 Trisomy 53
Ofds Viii 57
Ofds 8 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
Miscellaneous:
mild manifestations in carrier females (cleft lip, cleft tongue)

Inheritance:
x-linked recessive


HPO:

32
orofaciodigital syndrome viii:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060378 DOID:1085
KEGG 37 H01564
ICD9CM 35 758.2
NCIt 50 C101362
SNOMED-CT 68 51500006
ICD10 33 Q91.3
ICD10 via Orphanet 34 Q87.0 Q91.0 Q91.1 more
UMLS via Orphanet 73 C0152096 C0796101
MedGen 42 C0796101
UMLS 72 C0152096 C0796099 C0796101 more

Summaries for Orofaciodigital Syndrome Viii

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2755DefinitionOral-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 drugs Cobicistat and Emtricitabine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and tongue, 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 : 25 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.

KEGG : 37
Edwards syndrome, also known as trisomy 18, is a chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. This disease is the second-most common autosomal trisomy, after Down syndrome. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The main clinical features include prenatal growth deficiency, characteristic craniofacial features, distinctive hand posture, nail hypoplasia, short hallux, short sternum, and major malformations (particularly involving the heart). Approximately 50% of newborns survive beyond 1 week while more than 90% do not survive beyond 1 years of age.

Wikipedia : 75 Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by a third copy of all or part... more...

More information from OMIM: 300484 PS311200

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 313)
# Related Disease Score Top Affiliating Genes
1 chromosomal triplication 31.3 MALT1 CGA AFP
2 triploidy 30.9 PAPPA CGA AFP
3 placenta disease 30.2 PAPPA CGA AFP
4 gastric lymphoma 29.8 PCNA BCL10
5 oligohydramnios 29.7 CGA AFP
6 marginal zone b-cell lymphoma 29.5 MALT1 BIRC3 BCL10
7 lymphoma, mucosa-associated lymphoid type 29.5 MALT1 BIRC3 BCL10
8 pre-eclampsia 29.3 PAPPA AFP ADAM12
9 hypoplastic left heart syndrome 11.6
10 microtia-anotia 11.6
11 orofaciodigital syndrome 11.3
12 developmental dysplasia of the hip 1 11.3
13 pancreas, annular 11.3
14 patau syndrome 11.1
15 mosaic trisomy 13 10.7
16 ovarian mixed germ cell neoplasm 10.5 CGA AFP
17 intermediate malignant teratoma 10.5 PAPPA AFP
18 polyembryoma 10.5 CGA AFP
19 sacrococcygeal teratoma 10.5 CGA AFP
20 mixed germ cell tumor 10.5 CGA AFP
21 testicular seminoma 10.5 CGA AFP
22 hydrocele 10.4 CGA AFP
23 mature teratoma 10.4 PCNA AFP
24 patent ductus arteriosus 1 10.4
25 neural tube defects 10.4
26 hepatoblastoma 10.3
27 cleft lip 10.3
28 choroid plexus cyst 10.3
29 hydatidiform mole, recurrent, 1 10.3 PCNA CGA
30 down syndrome 10.3
31 microcephaly 10.3
32 pancreatic acinar cell adenocarcinoma 10.2 BCL10 AFP
33 primary cutaneous marginal zone b-cell lymphoma 10.2 MALT1 BCL10
34 cerebellar hypoplasia 10.2
35 hair whorl 10.2
36 anencephaly 10.2
37 rh isoimmunization 10.2 BCL10 AFP
38 acinar cell carcinoma 10.2 BCL10 AFP
39 wilms tumor 5 10.1
40 hydrocephalus 10.1
41 cystic lymphangioma 10.1
42 congenital hydrocephalus 10.1
43 hypertelorism 10.1
44 alkuraya-kucinskas syndrome 10.1
45 pulmonary hypertension 10.1
46 myelomeningocele 10.1
47 aortic coarctation 10.1
48 cleft lip/palate 10.1
49 ectopia cordis 10.1
50 congenital amyoplasia 10.1

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:

59 32 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000189
4 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
5 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
8 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
9 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
10 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
11 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
12 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
13 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
14 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
15 atrial septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001631
16 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
17 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
18 narrow face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000275
19 ventricular septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001629
20 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
21 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
22 microretrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000308
23 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
24 underdeveloped supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0009891
25 omphalocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0001539
26 deviation of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004097
27 narrow pelvis bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003275
28 pointed helix 59 32 hallmark (90%) Very frequent (99-80%) HP:0100810
29 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
30 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
31 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
32 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
33 abnormality of the hip bone 59 32 frequent (33%) Frequent (79-30%) HP:0003272
34 webbed neck 59 32 frequent (33%) Frequent (79-30%) HP:0000465
35 non-midline cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0100335
36 abnormality of female internal genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000008
37 choanal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0000453
38 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
39 abnormality of the fontanelles or cranial sutures 59 32 frequent (33%) Frequent (79-30%) HP:0000235
40 anal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0002023
41 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
42 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
43 congenital diaphragmatic hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000776
44 oligohydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001562
45 esophageal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0002032
46 abnormal toenail morphology 59 32 frequent (33%) Frequent (79-30%) HP:0008388
47 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
48 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
49 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
50 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
telecanthus

Head And Neck Mouth:
cleft palate
median cleft lip
high-arched palate
oral frenula
tongue lobulation
more
Respiratory Lung:
recurrent aspiration pneumonia

Skeletal Hands:
syndactyly
polydactyly

Neurologic Central Nervous System:
developmental delay

Respiratory Larynx:
hypoplastic epiglottis

Growth Height:
short stature

Head And Neck Nose:
broad nasal tip
bifid nasal tip

Skin Nails Hair Skin:
milia

Skeletal Feet:
syndactyly
bifid halluces
forked metatarsal

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with paclitaxel GR00101-A-3 8.62 BIRC3 HCFC1

MGI Mouse Phenotypes related to Orofaciodigital Syndrome Viii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.28 ADAM12 AFP BCL10 BIRC3 FPR1 HCFC1

Drugs & Therapeutics for Orofaciodigital Syndrome Viii

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cobicistat Approved 1004316-88-4
2
Emtricitabine Approved, Investigational 143491-57-0 60877
3
Tenofovir Experimental, Investigational 147127-20-6 464205
4 Chorionic Gonadotropin
5 Anti-Retroviral Agents
6 Anti-HIV Agents
7 Antiviral Agents
8 Anti-Infective Agents
9 Elvitegravir, Cobicistat, Emtricitabine, Tenofovir Disoproxil Fumarate Drug C...
10 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Non-Invasive Chromosomal Evaluation of Trisomy Study Unknown status NCT02201862
2 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
3 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00847990
4 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278874
5 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278536
6 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
7 Performance of the Verinata Health Prenatal Aneuploidy Test Compared to Current Fetal Aneuploidy Screening Results and Pregnancy Outcomes in an 'All‐Risk' Population Completed NCT01663350
8 A Clinical Study to Evaluate the Relative Clinical Sensitivity, Specificity, and Performance of the a Laboratory Developed Test as a Screening Test for Fetal Chromosomal Aneuploidy, Infectious and Other Diseases, and RhD Genotyping in the General Population of Pregnant Women Completed NCT02787486
9 Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00971334
10 Serum Sample Collection to Determine Analytical Performance Characteristics of the ADVIA CENTAUR® PREGNANCY ASSOCIATED PLASMA PROTEIN A and ADVIA Centaur® Free Beta Human Chorionic Gonadotropin ASSAYS Completed NCT03629795
11 PEGASUS: PErsonalized Genomics for Prenatal Aneuploidy Screening USing Maternal Blood Completed NCT01925742
12 DNAFirst: Primary Screening for Down Syndrome by Maternal Plasma DNA Completed NCT01966991
13 A Prospective, Multi-center Observational Study With Blinded, Nested Case:Control Analyses to Evaluate the Performance of the Verinata Health Prenatal Aneuploidy Diagnostic Test Completed NCT01122524
14 Development of Non-invasive Prenatal Diagnostic Test Based on Fetal DNA Isolated From Maternal Blood Completed NCT01574781
15 Can Increased Body Mass Index Prevent Adequate Ultrasound Examination for Trisomy 21 Risk Assessment? Completed NCT02443597
16 Investigating the Effects of Exercises in Addition to Dynamic Compression Brace in Patients With Pectus Carinatum: a Single Blinded Randomized Controlled Trial Completed NCT03559244
17 Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
18 Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT02109770
19 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
20 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Recruiting NCT03680651
21 Development of a Computer-Aided Genetics Education Module (CAGEM) on Screening and Testing for Fetal Chromosome Conditions and Carrier Status: A Clinical Trial Recruiting NCT03449225
22 Ensuring Patients' Informed Access to Noninvasive Prenatal Testing Recruiting NCT03420274
23 Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS) Active, not recruiting NCT01545674
24 A Prospective Clinical Study to Evaluate a Novel Non-invasive Prenatal Screening Method for Characterizing Fetal Whole Chromosome Aberrations and Other Major Defects and Deletions Found in the Maternal Blood. Active, not recruiting NCT02317965
25 Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies Active, not recruiting NCT03200041
26 SNP-based Microdeletion and Aneuploidy RegisTry Active, not recruiting NCT02381457
27 Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13) Enrolling by invitation NCT03559374
28 The VALUE Study - Women & Infants as the Coordinating Center Enrolling by invitation NCT03087357
29 A Retrospective Analysis of Fetal Outcome Compared to Massively Parallel Sequencing Test Results Obtained From Multiple Gestation Pregnancies at Increased Risk for Fetal Chromosomal Aneuploidy 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 29
2 Orofaciodigital Syndrome 8 29

Anatomical Context for Orofaciodigital Syndrome Viii

MalaCards organs/tissues related to Orofaciodigital Syndrome Viii:

41
Heart, Testes, Tongue, Bone, Whole Blood, Eye, Brain

Publications for Orofaciodigital Syndrome Viii

Articles related to Orofaciodigital Syndrome Viii:

(show top 50) (show all 206)
# Title Authors PMID Year
1
Oral-facial-digital syndromes, 1992. 8
8281288 1993
2
A male with type I orofaciodigital syndrome. 8
1941964 1991
3
X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males. 8
3229001 1988
4
Early pregnancy screening for fetal aneuploidy with serum markers and nuchal translucency. 9 38
10360515 1999
5
Quantitative anatomy of the primary ossification center of the radial shaft in human fetuses. 38
31049649 2019
6
Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD). 38
30317186 2018
7
Hypoxia due to positive pressure ventilation in Edwards' syndrome: A case report. 38
29125001 2018
8
[Double aneuploidy: Klinefelter and Edwards syndromes (48,XXY,+18). Case report]. 38
28895703 2017
9
A tumor profile in Patau syndrome (trisomy 13). 38
28544599 2017
10
Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. 38
28328132 2017
11
Strawberry skull in Edwards syndrome. 38
30363185 2017
12
Edwards' syndrome. 38
27927129 2016
13
A tumor profile in Edwards syndrome (trisomy 18). 38
27474103 2016
14
Anesthetic management of a patient with Edwards syndrome. 38
27525073 2016
15
Genetic polymorphisms of loci D18S53, D18S59, and D18S488 in fetuses from a Chinese Tianjin Han population. 38
27323182 2016
16
An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18. 38
26453443 2016
17
Morphological and ultrasonographic study of fetuses with cervical hygroma. A cases series. 38
28174814 2016
18
Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome. 38
27490343 2016
19
Two-Dimensional Differential Gel Electrophoresis to Identify Protein Biomarkers in Amniotic Fluid of Edwards Syndrome (Trisomy 18) Pregnancies. 38
26752631 2016
20
A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18. 38
27617135 2015
21
Phenotypic extremes in liveborn monozygotic twins with mosaic Edwards syndrome. 38
26561224 2015
22
Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures. 38
26324424 2015
23
Systematic review of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using free fetal DNA in maternal plasma. 38
26400291 2015
24
Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil. 38
25388684 2015
25
Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development. 38
26018729 2015
26
[Association of MTHFR and MTRR genes polymorphisms with non-disjunctions of chromosomes 18 and 21]. 38
26037359 2015
27
Combined use of cytogenetic and molecular methods in prenatal diagnostics of chromosomal abnormalities. 38
26005269 2015
28
When Cri du chat syndrome meets Edwards syndrome. 38
25385231 2015
29
[Non-invasive prenatal testing: challenges for future implementation]. 38
26530119 2015
30
Aberrant "Barbed-Wire" Nuclear Projections of Neutrophils in Trisomy 18 (Edwards Syndrome). 38
26770846 2015
31
[Predictive value of abnormal second-trimester maternal serum triple screening markers for adverse pregnancy outcomes]. 38
25537246 2014
32
Antenatal detection of Edwards (Trisomy 18) and Patau (Trisomy 13) syndrome: England and Wales 2005-2012. 38
24993362 2014
33
Birth prevalence and survival of exomphalos in england and wales: 2005 to 2011. 38
25178262 2014
34
[Prenatal diagnosis of trisomy 13 and trisomy 18: the experience of Assaf-Harofe Medical Center]. 38
25286634 2014
35
Pyramidal tract abnormalities in the human fetus and infant with trisomy 18 syndrome. 38
24313853 2014
36
Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition? 38
24648351 2014
37
Microphthalmia in a case of Edward syndrome. 38
24460468 2014
38
Ruptured omphalocele mimicking gastroschisis in a fetus with Edwards syndrome. 38
24132880 2014
39
Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS. 38
25426166 2014
40
Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome). 38
24478819 2014
41
Sonographic findings in partial type of trisomy 18. 38
24520506 2014
42
Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. 38
25593701 2014
43
Plurimalformative syndrome associating trisomy 18 and omphalocele. Case report and review of the literature. 38
24715190 2014
44
From Down syndrome screening to noninvasive prenatal testing: 20 years' experience in Taiwan. 38
24411028 2013
45
Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. 38
23949924 2013
46
[Prevalence of selected congenital anomalies in the Czech Republic: renal and cardiac anomalies and congenital chromosomal aberrations]. 38
24116699 2013
47
Craniofacial abnormalities among patients with Edwards Syndrome. 38
24142310 2013
48
Trisomy 18 and neural tube defects. 38
23831245 2013
49
A very rare entity of diabetes insipidus associated with Edwards syndrome. 38
24074370 2013
50
Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy. 38
23566840 2013

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 MALT1 BIRC3 BCL10
2 11.03 PCNA MALT1 BCL10
3 10.81 MALT1 BIRC3 BCL10
4 10.32 MALT1 BCL10

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 9.35 SLC27A5 MALT1 HCFC1 BIRC3 BCL10
2 CBM complex GO:0032449 8.62 MALT1 BCL10

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

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 MALT1 BCL10

Sources for Orofaciodigital Syndrome Viii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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