CLPED1
MCID: CLF037
MIFTS: 50

Cleft Lip/palate-Ectodermal Dysplasia Syndrome (CLPED1)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

MalaCards integrated aliases for Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

Name: Cleft Lip/palate-Ectodermal Dysplasia Syndrome 57 20 58 72 29 13 6 39
Orofacial Cleft 7 57 12 72 29 6 15 70
Zlotogora-Ogur Syndrome 57 12 20 58 72 70
Clped1 57 12 20 58 72
Syndactyly-Ectodermal Dysplasia-Cleft/lip Palate 12 20 58
Cleft Lip/palate-Syndactyly-Pili Torti Syndrome 12 20 58
Cleft Lip-Palate-Ectodermal Dysplasia Syndrome 12 15
Ectodermal Dysplasia, Margarita Island Type 57 72
Zlotogora-Zilberman-Tenenbaum Syndrome 12 20
Ectodermal Dysplasia Margarita Type 20 72
Ectodermal Dysplasia 4 12 15
Ed4 57 72
Ectodermal Dysplasia, Cleft Lip and Palate, Mental Retardation, and Syndactyly 57
Ectodermal Dysplasia-Cleft Lip/palate-Mental Retardation-Syndactyly 72
Non-Syndromic Cleft Lip with or Without Cleft Palate 7 72
Syndactyly-Ectodermal Dysplasia-Cleft Lip/palate 72
Ectodermal Dysplasia 4, Hair/nail Type 12
Margarita Type of Ectodermal Dysplasia 12
Cleft Lip/palate-Syndactyly-Pili Torti 20
Margarita Island Ectodermal Dysplasia 72
Ectodermal Dysplasia, Type 4; Ed4 57
Non-Syndromic Cleft Lip/palate 7 72
Non-Syndromic Orofacial Cleft 7 72
Ectodermal Dysplasia, Type 4 57
Ectodermal Dysplasia Type 4 72
Zlotogora Syndrome 20
Ectd4 12
Edmi 72
Ofc7 72

Characteristics:

Orphanet epidemiological data:

58
cleft lip/palate-ectodermal dysplasia syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
allelic disorder to the zlotogora-ogur syndrome


HPO:

31
cleft lip/palate-ectodermal dysplasia syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3253 Definition Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Epidemiology The prevalence is unknown but to date, less than 50 cases have been described in the literature. The disorder is frequent on Margarita Island due to a founder effect. Clinical description Zlotogora-Ogur syndrome is a congenital disorder characterized by sparse and twisted hair ( pili torti ) and absent or sparse eyebrows, hypohidrosis, dry skin, palmoplantar keratoderma, abnormal teeth (delayed eruption, microdontia/hypodontia, and anodontia in adults), facial dysmophism (protruding and malformed ears, micrognathia, bilateral cleft lip and palate), cutaneous syndactyly (fingers and toes) and transverse crease on the palms. Onychodystrophy may be present. Additional features including intellectual disability, deafness, hypoplastic lacrimal puncta, nipple anomalies, genitourinary abnormalities (hypoplastic scrotum and presence of the testes in the inguinal canal), and lumbar lordosis may be observed. Zlotogora-Ogur syndrome and Margarita Island ectodermal dysplasia are the same entity. Etiology Zlotogora-Ogur syndrome is caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Although the mechanism underlying the physiopathology of Zlotogora-Ogur syndrome is still unknown, it has been proposed that nectin-1 is a cell-cell adhesion molecule that is preferentially expressed in keratinocytes and that mutations in PVRL1 may abrogate NAP (nectin, afadin, ponsin)-dependent cell-cell adhesion. Genetic counseling Transmission is autosomal recessive.

MalaCards based summary : Cleft Lip/palate-Ectodermal Dysplasia Syndrome, also known as orofacial cleft 7, is related to ectodermal dysplasia and cleft lip/palate. An important gene associated with Cleft Lip/palate-Ectodermal Dysplasia Syndrome is NECTIN1 (Nectin Cell Adhesion Molecule 1), and among its related pathways/superpathways are PAK Pathway and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include testes, bone and ovary, and related phenotypes are macrotia and finger syndactyly

Disease Ontology : 12 An orofacial cleft that has material basis in by homozygous mutation in the PVRL1 gene on chromosome 11q23.

UniProtKB/Swiss-Prot : 72 Ectodermal dysplasia, Margarita Island type: An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails.
Non-syndromic orofacial cleft 7: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

More information from OMIM: 225060 PS119530

Related Diseases for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Diseases related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 30.4 TP63 NECTIN4 NECTIN1
2 cleft lip/palate 29.7 TP63 NECTIN1 IRF6 FOXE1
3 cleft lip 29.6 TP63 NECTIN1 IRF6 CLPTM1
4 chromosome 2q35 duplication syndrome 29.3 TP63 NECTIN4 NECTIN1 IRF6 FGF8
5 cleft palate, isolated 27.7 TP63 PVR NECTIN1 IRF6 FOXE1 FOXC2
6 ectodermal dysplasia 4, hair/nail type 11.9
7 syndactyly ectodermal dysplasia cleft lip palate hand foot 11.6
8 bustos simosa pinto cisternas syndrome 11.4
9 rosselli-gulienetti syndrome 11.3
10 acrofacial dysostosis, palagonia type 11.3
11 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.3
12 autosomal recessive disease 10.3
13 pili torti 10.3
14 mature teratoma of the ovary 10.2 PVR NECTIN2
15 ovarian cystic teratoma 10.2 PVR NECTIN2
16 keratosis 9.9
17 hypotrichosis 9.9
18 clouston syndrome 9.9 TP63 NECTIN1
19 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.9 IRF6 FOXE1
20 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 9.8 TP63 FGF8
21 popliteal pterygium syndrome 9.8 NECTIN1 IRF6 FOXE1
22 cleft lip with or without cleft palate 9.8 NECTIN1 IRF6 FOXE1
23 bartsocas-papas syndrome 9.8 TP63 IRF6
24 choanal atresia, posterior 9.8 FOXE1 FGF8
25 syngnathia 9.7 IRF6 FGF8
26 orofacial cleft 8 9.7 TP63 IRF6
27 cleft lip and alveolus 9.7 TP63 NECTIN1 IRF6
28 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 9.7 TP63 NECTIN1 IRF6
29 ankyloblepharon-ectodermal defects-cleft lip/palate 9.6 TP63 IRF6
30 physical disorder 9.6 IRF6 FOXE1 FGF8
31 isolated cleft lip 9.5 TP63 NECTIN1 IRF6 FOXE1
32 tooth agenesis 9.4 TP63 NECTIN1 IRF6 FGF8
33 lymphoid interstitial pneumonia 9.3 TP63 NECTIN1 IRF6 FOXE1 FGF8
34 van der woude syndrome 1 9.0 TP63 NECTIN1 IRF6 FOXE1 FGF8 CLPTM1
35 orofacial cleft 8.7 TP63 NECTIN1 IRF6 FOXE1 FOXC2 FGF8

Graphical network of the top 20 diseases related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:



Diseases related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Symptoms & Phenotypes for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Human phenotypes related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
2 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
3 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
4 bilateral cleft lip and palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002744
5 ectodermal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000968
6 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
7 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
8 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
9 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
10 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
11 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
12 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
13 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
14 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
15 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
16 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
17 hypoplasia of the zygomatic bone 58 31 frequent (33%) Frequent (79-30%) HP:0010669
18 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
19 abnormality of dental morphology 58 31 frequent (33%) Frequent (79-30%) HP:0006482
20 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
21 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
22 sparse lateral eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0005338
23 scrotal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000046
24 sparse hair 58 31 frequent (33%) Frequent (79-30%) HP:0008070
25 dystrophic toenail 58 31 frequent (33%) Frequent (79-30%) HP:0001810
26 dystrophic fingernails 58 31 frequent (33%) Frequent (79-30%) HP:0008391
27 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
28 pili torti 58 31 frequent (33%) Frequent (79-30%) HP:0003777
29 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
30 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
31 hypohidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000966
32 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
33 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
34 abnormality of the ureter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000069
35 palmoplantar hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000972
36 anodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000674
37 seizure 31 occasional (7.5%) HP:0001250
38 cleft upper lip 58 31 Very frequent (99-80%) HP:0000204
39 seizures 58 Occasional (29-5%)
40 abnormality of the dentition 58 Frequent (79-30%)
41 microdontia 31 HP:0000691
42 cleft palate 31 HP:0000175
43 abnormal dermatoglyphics 58 Occasional (29-5%)
44 malar flattening 31 HP:0000272
45 abnormality of the philtrum 31 HP:0000288
46 aplasia/hypoplasia of the eyebrow 58 Frequent (79-30%)
47 triangular face 31 HP:0000325
48 cutaneous finger syndactyly 31 HP:0010554
49 nail dysplasia 31 HP:0002164
50 nail dystrophy 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
microdontia
hypodontia
anodontia

Head And Neck Face:
triangular face
malar hypoplasia

Skin Nails Hair Hair:
sparse eyelashes
sparse eyebrows
hypotrichosis, progressive
short, brittle hair

Skin Nails Hair Nails:
onychodysplasia

Skeletal Feet:
syndactyly, cutaneous

Head And Neck Ears:
anteverted pinnae

Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Eyes:
sparse eyelashes
sparse eyebrows

Skin Nails Hair Skin:
palmoplantar hyperkeratosis
normal sweating capacity

Skeletal Hands:
syndactyly, cutaneous

Head And Neck Nose:
abnormal philtrum

Clinical features from OMIM®:

225060 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 FGF8 FOXC2 FOXE1 IRF6 NECTIN1 NECTIN3
2 digestive/alimentary MP:0005381 9.1 CDH17 FGF8 FOXC2 FOXE1 IRF6 TP63

Drugs & Therapeutics for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Search Clinical Trials , NIH Clinical Center for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Genetic Tests for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Genetic tests related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

# Genetic test Affiliating Genes
1 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 29 NECTIN1
2 Orofacial Cleft 7 29

Anatomical Context for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

MalaCards organs/tissues related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

40
Testes, Bone, Ovary

Publications for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Articles related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

(show all 13)
# Title Authors PMID Year
1
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. 57 6
11559849 2001
2
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. 6 57
10932188 2000
3
Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? 57 6
3035184 1987
4
Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. 57
9758630 1998
5
Syndactyly, ectodermal dysplasia, and cleft lip/palate. 57
7891379 1994
6
Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome. 57
1776626 1991
7
Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. 57
2167611 1990
8
Syndactyly, ectodermal dysplasia, and cleft lip and palate. 57
2845087 1988
9
Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. 57
2832607 1988
10
Ectodermal dysplasia. 57
14494246 1961
11
Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. 61
25913853 2015
12
A comprehensive review of the genetic basis of cleft lip and palate. 61
22438645 2012
13
An update on the aetiology of orofacial clefts. 61
15479962 2004

Variations for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

ClinVar genetic disease variations for Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

6 (show top 50) (show all 149)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NECTIN1 NM_002855.5(NECTIN1):c.969dup (p.Thr324fs) Duplication Pathogenic 8971 rs878853255 GRCh37: 11:119545902-119545903
GRCh38: 11:119675192-119675193
2 NECTIN1 NM_002855.5(NECTIN1):c.556del (p.Glu186fs) Deletion Pathogenic 8970 rs876657374 GRCh37: 11:119548442-119548442
GRCh38: 11:119677732-119677732
3 NECTIN1 NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter) SNV Pathogenic 8969 rs104894281 GRCh37: 11:119548444-119548444
GRCh38: 11:119677734-119677734
4 NECTIN1 NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter) SNV Pathogenic 8969 rs104894281 GRCh37: 11:119548444-119548444
GRCh38: 11:119677734-119677734
5 NECTIN1 NM_002855.5(NECTIN1):c.*296T>C SNV Uncertain significance 880196 GRCh37: 11:119535161-119535161
GRCh38: 11:119664451-119664451
6 NECTIN1 NM_002855.5(NECTIN1):c.*315T>C SNV Uncertain significance 880195 GRCh37: 11:119535142-119535142
GRCh38: 11:119664432-119664432
7 NECTIN1 NM_002855.5(NECTIN1):c.*348C>T SNV Uncertain significance 880194 GRCh37: 11:119535109-119535109
GRCh38: 11:119664399-119664399
8 NECTIN1 NM_002855.5(NECTIN1):c.*352C>T SNV Uncertain significance 880193 GRCh37: 11:119535105-119535105
GRCh38: 11:119664395-119664395
9 NECTIN1 NM_002855.5(NECTIN1):c.*438C>T SNV Uncertain significance 880192 GRCh37: 11:119535019-119535019
GRCh38: 11:119664309-119664309
10 NECTIN1 NM_002855.5(NECTIN1):c.*481C>T SNV Uncertain significance 880191 GRCh37: 11:119534976-119534976
GRCh38: 11:119664266-119664266
11 NECTIN1 NM_002855.5(NECTIN1):c.*521G>C SNV Uncertain significance 880190 GRCh37: 11:119534936-119534936
GRCh38: 11:119664226-119664226
12 NECTIN1 NM_002855.5(NECTIN1):c.*532T>C SNV Uncertain significance 880189 GRCh37: 11:119534925-119534925
GRCh38: 11:119664215-119664215
13 NECTIN1 NM_002855.5(NECTIN1):c.*607C>A SNV Uncertain significance 878969 GRCh37: 11:119534850-119534850
GRCh38: 11:119664140-119664140
14 NECTIN1 NM_002855.5(NECTIN1):c.*554G>A SNV Uncertain significance 878970 GRCh37: 11:119534903-119534903
GRCh38: 11:119664193-119664193
15 NECTIN1 NM_002855.5(NECTIN1):c.*2902A>C SNV Uncertain significance 880101 GRCh37: 11:119532555-119532555
GRCh38: 11:119661845-119661845
16 NECTIN1 NM_002855.5(NECTIN1):c.*2969A>T SNV Uncertain significance 880100 GRCh37: 11:119532488-119532488
GRCh38: 11:119661778-119661778
17 NECTIN1 NM_002855.5(NECTIN1):c.*2733T>C SNV Uncertain significance 877302 GRCh37: 11:119532724-119532724
GRCh38: 11:119662014-119662014
18 NECTIN1 NM_002855.5(NECTIN1):c.*2750C>T SNV Uncertain significance 877301 GRCh37: 11:119532707-119532707
GRCh38: 11:119661997-119661997
19 NECTIN1 NM_002855.5(NECTIN1):c.*2751G>A SNV Uncertain significance 877300 GRCh37: 11:119532706-119532706
GRCh38: 11:119661996-119661996
20 NECTIN1 NM_002855.5(NECTIN1):c.*2847C>T SNV Uncertain significance 877299 GRCh37: 11:119532610-119532610
GRCh38: 11:119661900-119661900
21 NECTIN1 NM_002855.5(NECTIN1):c.*2852T>G SNV Uncertain significance 877298 GRCh37: 11:119532605-119532605
GRCh38: 11:119661895-119661895
22 NECTIN1 NM_002855.5(NECTIN1):c.*2509G>A SNV Uncertain significance 878333 GRCh37: 11:119532948-119532948
GRCh38: 11:119662238-119662238
23 NECTIN1 NM_002855.5(NECTIN1):c.*2551T>G SNV Uncertain significance 878332 GRCh37: 11:119532906-119532906
GRCh38: 11:119662196-119662196
24 NECTIN1 NM_002855.5(NECTIN1):c.264C>T (p.Ser88=) SNV Uncertain significance 716975 rs7131391 GRCh37: 11:119549291-119549291
GRCh38: 11:119678581-119678581
25 NECTIN1 NM_002855.5(NECTIN1):c.375G>A (p.Glu125=) SNV Uncertain significance 719352 rs146919951 GRCh37: 11:119549180-119549180
GRCh38: 11:119678470-119678470
26 NECTIN1 NM_002855.5(NECTIN1):c.423G>A (p.Thr141=) SNV Uncertain significance 748554 rs142753103 GRCh37: 11:119549132-119549132
GRCh38: 11:119678422-119678422
27 NECTIN1 NM_002855.5(NECTIN1):c.429G>A (p.Met143Ile) SNV Uncertain significance 877470 GRCh37: 11:119549126-119549126
GRCh38: 11:119678416-119678416
28 NECTIN1 NM_002855.5(NECTIN1):c.431-5C>T SNV Uncertain significance 793005 rs559278757 GRCh37: 11:119548572-119548572
GRCh38: 11:119677862-119677862
29 NECTIN1 NM_002855.5(NECTIN1):c.431-4G>A SNV Uncertain significance 746878 rs375284374 GRCh37: 11:119548571-119548571
GRCh38: 11:119677861-119677861
30 NECTIN1 NM_002855.5(NECTIN1):c.444T>C (p.Asn148=) SNV Uncertain significance 877469 GRCh37: 11:119548554-119548554
GRCh38: 11:119677844-119677844
31 NECTIN1 NM_002855.5(NECTIN1):c.480G>A (p.Lys160=) SNV Uncertain significance 877468 GRCh37: 11:119548518-119548518
GRCh38: 11:119677808-119677808
32 NECTIN1 NM_002855.5(NECTIN1):c.*201G>A SNV Uncertain significance 877405 GRCh37: 11:119535256-119535256
GRCh38: 11:119664546-119664546
33 NECTIN1 NM_002855.5(NECTIN1):c.*269C>T SNV Uncertain significance 877404 GRCh37: 11:119535188-119535188
GRCh38: 11:119664478-119664478
34 NECTIN1 NM_002855.5(NECTIN1):c.*1129A>T SNV Uncertain significance 877357 GRCh37: 11:119534328-119534328
GRCh38: 11:119663618-119663618
35 NECTIN1 NM_002855.5(NECTIN1):c.*1132G>A SNV Uncertain significance 877356 GRCh37: 11:119534325-119534325
GRCh38: 11:119663615-119663615
36 NECTIN1 NM_002855.5(NECTIN1):c.*1139G>A SNV Uncertain significance 877355 GRCh37: 11:119534318-119534318
GRCh38: 11:119663608-119663608
37 NECTIN1 NM_002855.5(NECTIN1):c.*1168C>T SNV Uncertain significance 877354 GRCh37: 11:119534289-119534289
GRCh38: 11:119663579-119663579
38 NECTIN1 NM_002855.5(NECTIN1):c.*1179C>G SNV Uncertain significance 877353 GRCh37: 11:119534278-119534278
GRCh38: 11:119663568-119663568
39 NECTIN1 NM_002855.5(NECTIN1):c.*1184G>T SNV Uncertain significance 877352 GRCh37: 11:119534273-119534273
GRCh38: 11:119663563-119663563
40 NECTIN1 NM_002855.5(NECTIN1):c.*1241T>A SNV Uncertain significance 877351 GRCh37: 11:119534216-119534216
GRCh38: 11:119663506-119663506
41 NECTIN1 NM_002855.5(NECTIN1):c.*1266C>T SNV Uncertain significance 877350 GRCh37: 11:119534191-119534191
GRCh38: 11:119663481-119663481
42 NECTIN1 NM_002855.5(NECTIN1):c.*2692C>G SNV Uncertain significance 877304 GRCh37: 11:119532765-119532765
GRCh38: 11:119662055-119662055
43 NECTIN1 NM_002855.5(NECTIN1):c.*3714A>T SNV Uncertain significance 877236 GRCh37: 11:119531743-119531743
GRCh38: 11:119661033-119661033
44 NECTIN1 NM_002855.5(NECTIN1):c.*3705G>A SNV Uncertain significance 877237 GRCh37: 11:119531752-119531752
GRCh38: 11:119661042-119661042
45 NECTIN1 NM_002855.5(NECTIN1):c.*3647G>T SNV Uncertain significance 877238 GRCh37: 11:119531810-119531810
GRCh38: 11:119661100-119661100
46 NECTIN1 NM_002855.5(NECTIN1):c.*3636G>A SNV Uncertain significance 877239 GRCh37: 11:119531821-119531821
GRCh38: 11:119661111-119661111
47 NECTIN1 NM_002855.5(NECTIN1):c.*3634T>C SNV Uncertain significance 877240 GRCh37: 11:119531823-119531823
GRCh38: 11:119661113-119661113
48 NECTIN1 NM_002855.5(NECTIN1):c.*185T>C SNV Uncertain significance 877406 GRCh37: 11:119535272-119535272
GRCh38: 11:119664562-119664562
49 NECTIN1 NM_002855.5(NECTIN1):c.*165G>T SNV Uncertain significance 877407 GRCh37: 11:119535292-119535292
GRCh38: 11:119664582-119664582
50 NECTIN1 NM_002855.5(NECTIN1):c.*152C>A SNV Uncertain significance 877408 GRCh37: 11:119535305-119535305
GRCh38: 11:119664595-119664595

Expression for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Search GEO for disease gene expression data for Cleft Lip/palate-Ectodermal Dysplasia Syndrome.

Pathways for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

GO Terms for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Cellular components related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.8 NECTIN4 NECTIN3 NECTIN1 IRF6 CDH17 CADM3
2 cell-cell junction GO:0005911 9.55 NECTIN3 NECTIN2 NECTIN1 CADM3 AFDN
3 apical junction complex GO:0043296 9.5 NECTIN3 NECTIN2 NECTIN1
4 hippocampal mossy fiber to CA3 synapse GO:0098686 9.37 NECTIN3 NECTIN1
5 adherens junction GO:0005912 9.35 PVR NECTIN4 NECTIN3 NECTIN1 AFDN
6 cell-cell contact zone GO:0044291 8.92 NECTIN3 NECTIN2 NECTIN1 AFDN

Biological processes related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.97 TP63 IRF6 FOXE1 FOXC2 FGF8 CLPTM1
2 viral process GO:0016032 9.92 PVR NECTIN4 NECTIN2 NECTIN1
3 cell adhesion GO:0007155 9.86 PVR NECTIN4 NECTIN3 NECTIN2 NECTIN1 CDH17
4 cell-cell adhesion GO:0098609 9.77 NECTIN3 NECTIN1 CDH17
5 anatomical structure morphogenesis GO:0009653 9.73 FOXE1 FOXC2 FGF8
6 viral entry into host cell GO:0046718 9.7 PVR NECTIN4 NECTIN1
7 blood vessel remodeling GO:0001974 9.62 FOXC2 FGF8
8 metanephros development GO:0001656 9.61 FOXC2 FGF8
9 branching involved in blood vessel morphogenesis GO:0001569 9.61 FOXC2 FGF8
10 embryonic hindlimb morphogenesis GO:0035116 9.59 TP63 FGF8
11 hair follicle morphogenesis GO:0031069 9.58 TP63 FOXE1
12 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.58 PVR NECTIN2
13 thyroid gland development GO:0030878 9.57 FOXE1 FGF8
14 embryonic heart tube development GO:0035050 9.55 FOXC2 FGF8
15 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.55 PVR NECTIN4 NECTIN3 NECTIN1 CADM3
16 lens morphogenesis in camera-type eye GO:0002089 9.54 NECTIN3 NECTIN1
17 protein localization to cell junction GO:1902414 9.51 NECTIN3 NECTIN1
18 cranial skeletal system development GO:1904888 9.5 TP63 IRF6 FOXE1
19 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.5 PVR NECTIN4 NECTIN3 NECTIN2 NECTIN1 CDH17
20 positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target GO:0002860 9.48 PVR NECTIN2
21 virion attachment to host cell GO:0019062 9.46 NECTIN2 NECTIN1
22 establishment of protein localization to plasma membrane GO:0061951 9.43 NECTIN3 AFDN
23 susceptibility to natural killer cell mediated cytotoxicity GO:0042271 9.4 PVR NECTIN2
24 susceptibility to T cell mediated cytotoxicity GO:0060370 9.37 PVR NECTIN2
25 adherens junction organization GO:0034332 9.23 PVR NECTIN4 NECTIN3 NECTIN2 NECTIN1 CDH17

Molecular functions related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.73 TP63 NECTIN4 NECTIN3 NECTIN2 NECTIN1 FOXC2
2 sequence-specific DNA binding GO:0043565 9.46 TP63 IRF6 FOXE1 FOXC2
3 coreceptor activity GO:0015026 9.32 NECTIN2 NECTIN1
4 virus receptor activity GO:0001618 9.26 PVR NECTIN4 NECTIN2 NECTIN1
5 cell adhesion molecule binding GO:0050839 9.02 PVR NECTIN3 NECTIN2 NECTIN1 AFDN

Sources for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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