MCID: ORF040
MIFTS: 58

Orofaciodigital Syndrome Viii

Categories: Rare diseases, Genetic diseases, Eye diseases, Nephrological diseases, Ear diseases, Bone diseases, Fetal diseases, Oral diseases, Neuronal diseases, Respiratory 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 76 53 25 59 37 55 15
Trisomy 18 12 53 25 59 73
Complete Trisomy 18 Syndrome 12 25 29 73
Orofaciodigital Syndrome 8 53 29 44 73
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
Cleft Lip/palate with Abnormal Thumbs and Microcephaly 73
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 18 Syndrome 25
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
Inheritance:
x-linked recessive

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


HPO:

32
orofaciodigital syndrome viii:
Inheritance x-linked recessive inheritance


Classifications:



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: 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 patau syndrome 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 NF-kappa B signaling pathway. The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include tongue, heart and testes, and related phenotypes are hypertelorism and muscular hypotonia

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.

Disease Ontology : 12 An orofaciodigital syndrome characterized by hypertelorism or telecanthus, broad, bifid nasal tip, median cleft lip, tongue lobulation and/or hamartomas, oral frenula, high-arched or cleft palate, bilateral polydactyly, and duplicated halluces.

Wikipedia : 76 Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence 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 all 44)
# Related Disease Score Top Affiliating Genes
1 patau syndrome 31.2 AFP AGO2
2 triploidy 30.2 AFP CGA PAPPA
3 chromosome 18p duplication 11.1
4 orofaciodigital syndrome 11.0
5 developmental dysplasia of the hip 1 11.0
6 pancreas, annular 11.0
7 microtia-anotia 11.0
8 chromosome 18q duplication 11.0
9 polyembryoma 10.7 AFP CGA
10 sacrococcygeal teratoma 10.7 AFP CGA
11 mixed germ cell tumor 10.6 AFP CGA
12 hydrocele 10.6 AFP CGA
13 pancreatic acinar cell adenocarcinoma 10.5 AFP BCL10
14 primary cutaneous marginal zone b-cell lymphoma 10.5 BCL10 MALT1
15 prostate lymphoma 10.4 BIRC3 MALT1
16 rh isoimmunization 10.4 AFP BCL10
17 cystadenofibroma 10.4 AFP INHA
18 acinar cell carcinoma 10.4 AFP BCL10
19 trophoblastic neoplasm 10.3 CGA INHA
20 uterine anomalies 10.3 AFP PAPPA
21 lung lymphoma 10.2 BIRC3 MALT1
22 splenic marginal zone lymphoma 10.2 BIRC3 MALT1
23 seminoma 10.1 AFP CGA INHA
24 marginal zone b-cell lymphoma 10.1 BCL10 BIRC3 MALT1
25 ectopic pregnancy 10.1 ADAM12 CGA PAPPA
26 lymphoma, mucosa-associated lymphoid type 10.0 BCL10 BIRC3 MALT1
27 mosaic trisomy 13 10.0
28 down syndrome 10.0
29 sex cord-gonadal stromal tumor 10.0 AFP INHA
30 b-cell lymphomas 10.0 BCL10 BIRC3 MALT1
31 placenta disease 9.9 AFP PAPPA
32 lymphoma, non-hodgkin, familial 9.8 BCL10 BIRC3 MALT1
33 omphalocele 9.8
34 ring chromosome 18 9.7
35 ankyloblepharon filiforme adnatum and cleft palate 9.7
36 cri-du-chat syndrome 9.7
37 gastroschisis 9.7
38 speech and communication disorders 9.7
39 heart disease 9.7
40 gonadal dysgenesis 9.7
41 laryngitis 9.7
42 turner syndrome 9.7
43 diabetes insipidus 9.7
44 pre-eclampsia 9.5 ADAM12 AFP INHA PAPPA

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



Diseases related to Orofaciodigital Syndrome Viii

Symptoms & Phenotypes for Orofaciodigital Syndrome Viii

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
Skeletal Hands:
syndactyly
polydactyly

Skin Nails Hair Skin:
milia

Neurologic Central Nervous System:
developmental delay

Respiratory Larynx:
hypoplastic epiglottis

Growth Height:
short stature

Head And Neck Nose:
broad nasal tip
bifid nasal tip

Skeletal Feet:
syndactyly
bifid halluces
forked metatarsal

Respiratory Lung:
recurrent aspiration pneumonia

Skeletal Limbs:
short tibiae

Head And Neck Teeth:
absent teeth


Clinical features from OMIM:

300484

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 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
5 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
6 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
7 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
8 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
11 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
12 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
13 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
14 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
15 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
16 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
17 abnormality of the hip bone 59 32 frequent (33%) Frequent (79-30%) HP:0003272
18 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
19 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
20 webbed neck 59 32 frequent (33%) Frequent (79-30%) HP:0000465
21 atrial septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001631
22 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
23 non-midline cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0100335
24 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
25 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
26 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308
27 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
28 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
29 narrow face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000275
30 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
31 abnormality of the fontanelles or cranial sutures 59 32 frequent (33%) Frequent (79-30%) HP:0000235
32 anal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0002023
33 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
34 choanal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0000453
35 ventricular septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001629
36 spina bifida 59 32 occasional (7.5%) Occasional (29-5%) HP:0002414
37 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
38 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
39 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
40 oligohydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001562
41 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
42 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
43 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
44 microretrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000308
45 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
46 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
47 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
48 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
49 postaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001162
50 anencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002323

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 AGO2 BCL10 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
Menthol Approved 2216-51-5 16666

Interventional clinical trials:

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

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
Tongue, Heart, Testes, Bone, Eye, Whole Blood, Placenta

Publications for Orofaciodigital Syndrome Viii

Articles related to Orofaciodigital Syndrome Viii:

(show all 37)
# Title Authors Year
1
Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome. ( 27490343 )
2016
2
Phenotypic extremes in liveborn monozygotic twins with mosaic Edwards syndrome. ( 26561224 )
2015
3
Detection of fetal cell-free DNA in maternal plasma for Down syndrome, Edward syndrome and Patau syndrome of high risk fetus. ( 26309618 )
2015
4
Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures. ( 26324424 )
2015
5
Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome). ( 24478819 )
2014
6
Ruptured omphalocele mimicking gastroschisis in a fetus with edwards syndrome. ( 24132880 )
2014
7
Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. ( 25593701 )
2014
8
Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil. ( 25388684 )
2014
9
When Cri du chat syndrome meets Edwards syndrome. ( 25385231 )
2014
10
A very rare entity of diabetes insipidus associated with Edwards syndrome. ( 24074370 )
2013
11
Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations. ( 23657517 )
2013
12
Craniofacial abnormalities among patients with Edwards Syndrome. ( 24142310 )
2013
13
Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. ( 23949924 )
2013
14
First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free I^-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome. ( 24381414 )
2013
15
Partial duplication of 18q including a distal critical region for Edwards Syndrome in a patient with normal phenotype and oligoasthenospermia: case report. ( 21228546 )
2011
16
[Clinical courses of trisomy 18 (Edwards syndrome) - an update]. ( 21755483 )
2011
17
Edwards syndrome in a 6-year old girl. ( 20150875 )
2010
18
Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome. ( 21152411 )
2010
19
Unusual clinical history of a male infant with Edwards syndrome. ( 18575830 )
2009
20
Edwards syndrome with double trisomy. ( 18695855 )
2008
21
Maternal serum ADAM12 levels in Down and Edwards' syndrome pregnancies at 9-12 weeks' gestation. ( 16752438 )
2006
22
Prenatally diagnosable differences in the cellular immunity of fetuses with Down's and Edwards' syndrome. ( 16969005 )
2006
23
Characterisation of a 19-year-old &amp;quot;long-term survivor&amp;quot; with Edwards syndrome. ( 12872820 )
2003
24
A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin. ( 9272714 )
1997
25
Triple test for prenatal detection of Edwards syndrome (trisomy 18). ( 8624894 )
1996
26
Parental origin of the extra chromosome 18 in Edwards syndrome. ( 8766143 )
1996
27
[Trisomy 13 syndrome (Patau syndrome), trisomy 18 syndrome (Edwards syndrome), Down syndrome (trisomy 21 syndrome), Turner syndrome (XO gonadal dysgenesis)]. ( 9047985 )
1996
28
Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. ( 8079991 )
1994
29
Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome). ( 8225314 )
1993
30
Trisomy 18 (Edwards syndrome): report of two cases. ( 1295656 )
1992
31
[The gene-dose effect for peptidase A on the erythrocytes of a patient with Edwards' syndrome]. ( 2075105 )
1990
32
Ankyloblepharon filiforme adnatum in trisomy 18 Edwards syndrome. ( 2277391 )
1990
33
Misdiagnosis of omphalocele associated with Edwards syndrome and congenital heart disease. ( 3303007 )
1987
34
Antenatal ultrasonographic diagnosis of trisomy 18 (Edwards syndrome). ( 3319733 )
1987
35
Trisomy 18 (Edwards syndrome) in Delaware. ( 6840358 )
1983
36
Trisomy 18 (Edwards syndrome) in Delaware. ( 7160501 )
1982
37
Trisomy 18 (Edwards syndrome) with congenital facial palsy and laryngeal asymmetry. ( 5099906 )
1971

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 10.78 BCL10 BIRC3 MALT1
3 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 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.58 BCL10 BIRC3 MALT1
2 regulation of apoptotic process GO:0042981 9.56 BCL10 BIRC3 INHA MALT1
3 positive regulation of T cell activation GO:0050870 9.37 BCL10 MALT1
4 response to molecule of bacterial origin GO:0002237 9.32 BCL10 MALT1
5 response to fungus GO:0009620 9.16 BCL10 MALT1
6 regulation of T cell receptor signaling pathway GO:0050856 8.96 BCL10 MALT1
7 positive regulation of protein ubiquitination GO:0031398 8.8 BCL10 BIRC3 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....