CLPED1
MCID: CLF037
MIFTS: 52

Cleft Lip/palate-Ectodermal Dysplasia Syndrome (CLPED1)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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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 58 73 28 12 5 38
Orofacial Cleft 7 57 11 73 28 5 43 14 71
Zlotogora-Ogur Syndrome 57 11 58 73 71
Clped1 57 11 58 73
Syndactyly-Ectodermal Dysplasia-Cleft/lip Palate 11 58
Cleft Lip/palate-Syndactyly-Pili Torti Syndrome 11 58
Cleft Lip-Palate-Ectodermal Dysplasia Syndrome 11 14
Ectodermal Dysplasia, Margarita Island Type 57 73
Ectodermal Dysplasia Margarita Type 19 73
Ectodermal Dysplasia 4 11 14
Ed4 57 73
Ectodermal Dysplasia, Cleft Lip and Palate, Mental Retardation, and Syndactyly 57
Non-Syndromic Cleft Lip with or Without Cleft Palate 7 73
Syndactyly-Ectodermal Dysplasia-Cleft Lip/palate 73
Ectodermal Dysplasia 4, Hair/nail Type 11
Margarita Type of Ectodermal Dysplasia 11
Zlotogora-Zilberman-Tenenbaum Syndrome 11
Margarita Island Ectodermal Dysplasia 73
Non-Syndromic Cleft Lip/palate 7 73
Non-Syndromic Orofacial Cleft 7 73
Ectodermal Dysplasia, Type 4 57
Ectodermal Dysplasia Type 4 73
Ectd4 11
Edmi 73
Ofc7 73

Characteristics:


Inheritance:

Autosomal recessive 58 57

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
allelic disorder to the zlotogora-ogur syndrome


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

UniProtKB/Swiss-Prot 73 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.

MalaCards based summary: Cleft Lip/palate-Ectodermal Dysplasia Syndrome, also known as orofacial cleft 7, is related to cleft lip/palate and ectodermal dysplasia. 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 skin, bone and heart, and related phenotypes are macrotia and finger syndactyly

Disease Ontology 11 Cleft lip-palate-ectodermal dysplasia syndrome: A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has material basis in homozygous mutation in the NECTIN1 gene on chromosome 11q23.

Orofacial cleft 7: An orofacial cleft that has material basis in by homozygous mutation in the PVRL1 gene on chromosome 11q23.

Ectodermal dysplasia 4: A pure hair and nail ectodermal dysplasia that has material basis in homozygous or compound heterozygous mutation in KRT85 on chromosome 12q13.13.

Orphanet: 58 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.

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 42)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate 30.6 NECTIN1 IRF6
2 ectodermal dysplasia 30.4 NECTIN4 NECTIN1 CDH3
3 chromosome 2q35 duplication syndrome 30.2 NECTIN4 NECTIN1 IRF6
4 tooth agenesis 29.9 TBX22 NECTIN1 IRF6 CDH3
5 cleft lip 29.9 TBX22 NECTIN1 IRF6 FOXE1 CLPTM1
6 cleft palate, isolated 29.1 TBX22 PVR NECTIN1 IRF6 FOXE1 CLPTM1
7 ectodermal dysplasia 4, hair/nail type 11.8
8 syndactyly ectodermal dysplasia cleft lip palate hand foot 11.6
9 bustos simosa pinto cisternas syndrome 11.5
10 acrofacial dysostosis, palagonia type 11.5
11 rosselli-gulienetti syndrome 11.3
12 nipples, supernumerary 10.3
13 uncombable hair syndrome 1 10.3
14 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.3
15 pili torti, early-onset 10.3
16 genital herpes 10.2 NECTIN2 NECTIN1
17 cleft lip and alveolus 10.1 NECTIN1 IRF6
18 isolated cleft lip 10.1 NECTIN1 IRF6
19 choanal atresia, posterior 10.1 TBX22 FOXE1
20 orofacial cleft 15 10.1 TBX22 CLPTM1
21 ankyloglossia with or without tooth anomalies 10.0 TBX22 IRF6
22 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.0 NECTIN1 IRF6 AFDN
23 cleft soft palate 10.0 TBX22 IRF6
24 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.9 TBX22 IRF6 FOXE1
25 hypotrichosis simplex 9.9 DSG4 CDH3
26 hypotrichosis 7 9.9
27 glass syndrome 9.9
28 palmoplantar keratosis 9.9
29 hypotrichosis 9.9
30 hypotrichosis, congenital, with juvenile macular dystrophy 9.9 DSG4 CDH3
31 hypotrichosis 2 9.9 DSG4 CDH3
32 ritter's disease 9.9 DSG4 CDH17
33 popliteal pterygium syndrome 9.8 TBX22 NECTIN1 IRF6 FOXE1
34 craniofacial-deafness-hand syndrome 9.8 CDH3 CDH17
35 benign chronic pemphigus 9.8 DSG4 CDH3
36 breast lobular carcinoma 9.8 CDH3 CDH17
37 branchiooculofacial syndrome 9.7 TBX22 IRF6
38 darier-white disease 9.7 DSG4 CDH3
39 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 9.6 DSG4 CDH3 CDH17
40 pemphigus vulgaris, familial 9.6 DSG4 CDH3 CDH17
41 van der woude syndrome 9.6 TBX22 NECTIN1 IRF6 FOXE1 CLPTM1
42 orofacial cleft 9.6 TBX22 NECTIN1 IRF6 FOXE1 CLPTM1

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 30 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrotia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000400
2 finger syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006101
3 toe syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001770
4 bilateral cleft lip and palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002744
5 ectodermal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000968
6 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
7 neurological speech impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002167
8 recurrent respiratory infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002205
9 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000431
10 carious teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000670
11 wide intermamillary distance 58 30 Frequent (33%) Frequent (79-30%)
HP:0006610
12 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
13 alopecia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001596
14 downslanted palpebral fissures 58 30 Frequent (33%) Frequent (79-30%)
HP:0000494
15 bilateral single transverse palmar creases 58 30 Frequent (33%) Frequent (79-30%)
HP:0007598
16 highly arched eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0002553
17 hypoplasia of the zygomatic bone 58 30 Frequent (33%) Frequent (79-30%)
HP:0010669
18 protruding ear 58 30 Frequent (33%) Frequent (79-30%)
HP:0000411
19 abnormality of dental morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0006482
20 midface retrusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0011800
21 synophrys 58 30 Frequent (33%) Frequent (79-30%)
HP:0000664
22 sparse lateral eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0005338
23 sparse hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0008070
24 dystrophic toenail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001810
25 dystrophic fingernails 58 30 Frequent (33%) Frequent (79-30%)
HP:0008391
26 hypogonadism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000135
27 pili torti 58 30 Frequent (33%) Frequent (79-30%)
HP:0003777
28 small scrotum 30 Frequent (33%) HP:0000046
29 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
30 eeg abnormality 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002353
31 hyperlordosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003307
32 hypohidrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000966
33 hypodontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000668
34 abnormality of the ureter 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000069
35 palmoplantar hyperkeratosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000972
36 anodontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000674
37 abnormal dental enamel morphology 30 Occasional (7.5%) HP:0000682
38 cleft upper lip 58 30 Very frequent (99-80%)
HP:0000204
39 abnormality of the dentition 58 Frequent (79-30%)
40 microdontia 30 HP:0000691
41 cleft palate 30 HP:0000175
42 abnormal dermatoglyphics 58 Occasional (29-5%)
43 abnormality of dental enamel 58 Occasional (29-5%)
44 malar flattening 30 HP:0000272
45 abnormality of the philtrum 30 HP:0000288
46 aplasia/hypoplasia of the eyebrow 58 Frequent (79-30%)
47 triangular face 30 HP:0000325
48 cutaneous finger syndactyly 30 HP:0010554
49 nail dysplasia 30 HP:0002164
50 scrotal hypoplasia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.07 AFDN CADM3 CDH17 CDH3 CLPTM1 DSG4
2 no effect GR00402-S-2 10.07 AFDN CADM3 CDH17 CDH3 CLPTM1 FOXE1
3 Increased LDL uptake GR00340-A-1 8.96 CLPTM1 NECTIN2

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 FOXE1 IRF6 NECTIN1 NECTIN3 PVR TBX22
2 integument MP:0010771 9.17 AFDN CDH3 DSG4 FOXE1 IRF6 NECTIN1

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

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

Cochrane evidence based reviews: orofacial cleft 7

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 28 NECTIN1
2 Orofacial Cleft 7 28

Anatomical Context for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

MalaCards : Skin, Bone, Heart

Publications for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

(show all 36)
# Title Authors PMID Year
1
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. 62 57 5
11559849 2001
2
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. 62 57 5
10932188 2000
3
Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? 57 5
3035184 1987
4
Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. 62 57
25913853 2015
5
Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. 62 57
9758630 1998
6
Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. 62 57
2167611 1990
7
Syndactyly, ectodermal dysplasia, and cleft lip/palate. 57
7891379 1994
8
Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome. 57
1776626 1991
9
Syndactyly, ectodermal dysplasia, and cleft lip and palate. 57
2845087 1988
10
Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. 57
2832607 1988
11
Ectodermal dysplasia. 57
14494246 1961
12
Health Risk Assessment and Multivariate Statistical Analysis of Heavy Metals in Vegetables of Khyber Pakhtunkhwa Region, Pakistan. 62
35146633 2022
13
The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility. 62
35426585 2022
14
Disruption of the nectin-afadin complex recapitulates features of the human cleft lip/palate syndrome CLPED1. 62
32554531 2020
15
Pasture dry matter intake per cow in intensive dairy production systems: effects of grazing and feeding management. 62
31650937 2020
16
Predicting feed intake and feed efficiency in lactating dairy cows using digesta marker techniques. 62
30806342 2019
17
Smart campus: Data on energy consumption in an ICT-driven university. 62
29276746 2018
18
Implant-supported Oral Rehabilitation in Child with Ectodermal Dysplasia - 4-year Follow-up. 62
28381734 2017
19
Individual variation and repeatability of methane production from dairy cows estimated by the CO₂ method in automatic milking system. 62
25951878 2015
20
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation. 62
24577405 2014
21
Nutritional and ecological evaluation of dairy farming systems based on concentrate feeding regimes in semi-arid environments of Jordan. 62
24596499 2014
22
Epicardial adipose tissue assessed by cardiac magnetic resonance imaging in patients with heart failure due to dilated cardiomyopathy. 62
23592680 2013
23
PVRL1 as a candidate gene for nonsyndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in southern Han Chinese patients. 62
22455396 2012
24
Impact of functional, morphological and clinical parameters on epicardial adipose tissue in patients with coronary artery disease. 62
22813697 2012
25
A comprehensive review of the genetic basis of cleft lip and palate. 62
22438645 2012
26
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 62
20691405 2010
27
[Nectin and nectin-like molecules as markers, actors and targets in cancer]. 62
20346277 2010
28
Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate. 62
19715471 2009
29
PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. 62
17089422 2006
30
Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. 62
16674562 2006
31
COMP mutations, chondrocyte function and cartilage matrix. 62
15694129 2005
32
An update on the aetiology of orofacial clefts. 62
15479962 2004
33
Comparative usage of herpesvirus entry mediator A and nectin-1 by laboratory strains and clinical isolates of herpes simplex virus. 62
15110526 2004
34
Calreticulin, PDI, Grp94 and BiP chaperone proteins are associated with retained COMP in pseudoachondroplasia chondrocytes. 62
11470401 2001
35
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. 62
11159940 2001
36
Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family. 62
1456284 1992

Variations for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

5 (show top 50) (show all 150)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NECTIN1 NM_002855.5(NECTIN1):c.556del (p.Glu186fs) DEL Pathogenic
8970 rs876657374 GRCh37: 11:119548442-119548442
GRCh38: 11:119677732-119677732
2 NECTIN1 NM_002855.5(NECTIN1):c.969dup (p.Thr324fs) DUP Pathogenic
8971 rs878853255 GRCh37: 11:119545902-119545903
GRCh38: 11:119675192-119675193
3 NECTIN1 NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter) SNV Pathogenic
Pathogenic
8969 rs104894281 GRCh37: 11:119548444-119548444
GRCh38: 11:119677734-119677734
4 NECTIN1 NM_002855.5(NECTIN1):c.472C>T (p.Arg158Ter) SNV Likely Pathogenic
984386 GRCh37: 11:119548526-119548526
GRCh38: 11:119677816-119677816
5 NECTIN1 NM_002855.5(NECTIN1):c.*2969A>T SNV Uncertain Significance
880100 rs768510314 GRCh37: 11:119532488-119532488
GRCh38: 11:119661778-119661778
6 NECTIN1 NM_002855.5(NECTIN1):c.*2902A>C SNV Uncertain Significance
880101 rs372246353 GRCh37: 11:119532555-119532555
GRCh38: 11:119661845-119661845
7 NECTIN1 NM_002855.5(NECTIN1):c.*1382T>C SNV Uncertain Significance
880142 rs545288869 GRCh37: 11:119534075-119534075
GRCh38: 11:119663365-119663365
8 NECTIN1 NM_002855.5(NECTIN1):c.*1368G>A SNV Uncertain Significance
880143 rs576817361 GRCh37: 11:119534089-119534089
GRCh38: 11:119663379-119663379
9 NECTIN1 NM_002855.5(NECTIN1):c.*1337T>C SNV Uncertain Significance
880144 rs114244021 GRCh37: 11:119534120-119534120
GRCh38: 11:119663410-119663410
10 NECTIN1 NM_002855.5(NECTIN1):c.*1330G>C SNV Uncertain Significance
880145 rs891490437 GRCh37: 11:119534127-119534127
GRCh38: 11:119663417-119663417
11 NECTIN1 NM_002855.5(NECTIN1):c.*532T>C SNV Uncertain Significance
880189 rs138678304 GRCh37: 11:119534925-119534925
GRCh38: 11:119664215-119664215
12 NECTIN1 NM_002855.5(NECTIN1):c.*521G>C SNV Uncertain Significance
880190 rs998507978 GRCh37: 11:119534936-119534936
GRCh38: 11:119664226-119664226
13 NECTIN1 NM_002855.5(NECTIN1):c.*481C>T SNV Uncertain Significance
880191 rs148928883 GRCh37: 11:119534976-119534976
GRCh38: 11:119664266-119664266
14 NECTIN1 NM_002855.5(NECTIN1):c.*438C>T SNV Uncertain Significance
880192 rs760416313 GRCh37: 11:119535019-119535019
GRCh38: 11:119664309-119664309
15 NECTIN1 NM_002855.5(NECTIN1):c.*352C>T SNV Uncertain Significance
880193 rs59681945 GRCh37: 11:119535105-119535105
GRCh38: 11:119664395-119664395
16 NECTIN1 NM_002855.5(NECTIN1):c.*348C>T SNV Uncertain Significance
880194 rs748100409 GRCh37: 11:119535109-119535109
GRCh38: 11:119664399-119664399
17 NECTIN1 NM_002855.5(NECTIN1):c.*315T>C SNV Uncertain Significance
880195 rs565357962 GRCh37: 11:119535142-119535142
GRCh38: 11:119664432-119664432
18 NECTIN1 NM_002855.5(NECTIN1):c.*296T>C SNV Uncertain Significance
880196 rs769907939 GRCh37: 11:119535161-119535161
GRCh38: 11:119664451-119664451
19 NECTIN1 NM_002855.5(NECTIN1):c.682G>A (p.Val228Ile) SNV Uncertain Significance
880237 rs200513188 GRCh37: 11:119548316-119548316
GRCh38: 11:119677606-119677606
20 NECTIN1 NM_002855.5(NECTIN1):c.629G>A (p.Arg210His) SNV Uncertain Significance
880239 rs142863092 GRCh37: 11:119548369-119548369
GRCh38: 11:119677659-119677659
21 NECTIN1 NM_002855.5(NECTIN1):c.502C>T (p.Leu168=) SNV Uncertain Significance
880240 rs149093951 GRCh37: 11:119548496-119548496
GRCh38: 11:119677786-119677786
22 NECTIN1 NM_002855.5(NECTIN1):c.1380T>C (p.Tyr460=) SNV Uncertain Significance
879021 rs1864734746 GRCh37: 11:119535631-119535631
GRCh38: 11:119664921-119664921
23 NECTIN1 NM_002855.5(NECTIN1):c.1333G>A (p.Gly445Ser) SNV Uncertain Significance
879022 rs539461545 GRCh37: 11:119535678-119535678
GRCh38: 11:119664968-119664968
24 NECTIN1 NM_002855.5(NECTIN1):c.1194C>T (p.Asn398=) SNV Uncertain Significance
879023 rs188936128 GRCh37: 11:119535817-119535817
GRCh38: 11:119665107-119665107
25 NECTIN1 NM_002855.5(NECTIN1):c.1182C>T (p.His394=) SNV Uncertain Significance
879024 rs761931104 GRCh37: 11:119535829-119535829
GRCh38: 11:119665119-119665119
26 NECTIN1 NM_002855.5(NECTIN1):c.1078G>A (p.Val360Met) SNV Uncertain Significance
879025 rs758801522 GRCh37: 11:119535933-119535933
GRCh38: 11:119665223-119665223
27 NECTIN1 NM_002855.5(NECTIN1):c.1019C>A (p.Pro340Gln) SNV Uncertain Significance
879026 rs375956459 GRCh37: 11:119535992-119535992
GRCh38: 11:119665282-119665282
28 NECTIN1 NM_002855.5(NECTIN1):c.900C>G (p.Leu300=) SNV Uncertain Significance
879027 rs1294282077 GRCh37: 11:119545972-119545972
GRCh38: 11:119675262-119675262
29 NECTIN1 NM_002855.5(NECTIN1):c.-151A>C SNV Uncertain Significance
879072 rs900655328 GRCh37: 11:119599414-119599414
GRCh38: 11:119728704-119728704
30 NECTIN1 NM_002855.5(NECTIN1):c.*3136G>A SNV Uncertain Significance
880096 rs76084281 GRCh37: 11:119532321-119532321
GRCh38: 11:119661611-119661611
31 NECTIN1 NM_002855.5(NECTIN1):c.*3087C>G SNV Uncertain Significance
880097 rs575574028 GRCh37: 11:119532370-119532370
GRCh38: 11:119661660-119661660
32 NECTIN1 NM_002855.5(NECTIN1):c.*3032T>C SNV Uncertain Significance
880098 rs774879984 GRCh37: 11:119532425-119532425
GRCh38: 11:119661715-119661715
33 NECTIN1 NM_002855.5(NECTIN1):c.*2374C>T SNV Uncertain Significance
878917 rs753029528 GRCh37: 11:119533083-119533083
GRCh38: 11:119662373-119662373
34 NECTIN1 NM_002855.5(NECTIN1):c.*2355C>T SNV Uncertain Significance
878918 rs1456398872 GRCh37: 11:119533102-119533102
GRCh38: 11:119662392-119662392
35 NECTIN1 NM_002855.5(NECTIN1):c.*607C>A SNV Uncertain Significance
878969 rs187441699 GRCh37: 11:119534850-119534850
GRCh38: 11:119664140-119664140
36 NECTIN1 NM_002855.5(NECTIN1):c.*554G>A SNV Uncertain Significance
878970 rs369160682 GRCh37: 11:119534903-119534903
GRCh38: 11:119664193-119664193
37 NECTIN1 NM_002855.5(NECTIN1):c.*2882G>A SNV Uncertain Significance
880103 rs1200712188 GRCh37: 11:119532575-119532575
GRCh38: 11:119661865-119661865
38 NECTIN1 NM_002855.5(NECTIN1):c.*1555C>T SNV Uncertain Significance
880138 rs1023855669 GRCh37: 11:119533902-119533902
GRCh38: 11:119663192-119663192
39 NECTIN1 NM_002855.5(NECTIN1):c.*1554G>A SNV Uncertain Significance
880139 rs77555237 GRCh37: 11:119533903-119533903
GRCh38: 11:119663193-119663193
40 NECTIN1 NM_002855.5(NECTIN1):c.*1422G>A SNV Uncertain Significance
880140 rs973497387 GRCh37: 11:119534035-119534035
GRCh38: 11:119663325-119663325
41 NECTIN1 NM_002855.5(NECTIN1):c.431-4G>A SNV Uncertain Significance
746878 rs375284374 GRCh37: 11:119548571-119548571
GRCh38: 11:119677861-119677861
42 NECTIN1 NM_002855.5(NECTIN1):c.431-5C>T SNV Uncertain Significance
793005 rs559278757 GRCh37: 11:119548572-119548572
GRCh38: 11:119677862-119677862
43 NECTIN1 NM_002855.5(NECTIN1):c.423G>A (p.Thr141=) SNV Uncertain Significance
748554 rs142753103 GRCh37: 11:119549132-119549132
GRCh38: 11:119678422-119678422
44 NECTIN1 NM_002855.5(NECTIN1):c.375G>A (p.Glu125=) SNV Uncertain Significance
719352 rs146919951 GRCh37: 11:119549180-119549180
GRCh38: 11:119678470-119678470
45 NECTIN1 NM_002855.5(NECTIN1):c.264C>T (p.Ser88=) SNV Uncertain Significance
716975 rs7131391 GRCh37: 11:119549291-119549291
GRCh38: 11:119678581-119678581
46 NECTIN1 NM_002855.5(NECTIN1):c.1548C>T (p.Tyr516=) SNV Uncertain Significance
721451 rs146113849 GRCh37: 11:119535463-119535463
GRCh38: 11:119664753-119664753
47 NECTIN1 NM_002855.5(NECTIN1):c.1438G>A (p.Gly480Ser) SNV Uncertain Significance
878433 rs147334676 GRCh37: 11:119535573-119535573
GRCh38: 11:119664863-119664863
48 NECTIN1 NM_002855.5(NECTIN1):c.130G>A (p.Gly44Ser) SNV Uncertain Significance
786830 rs137991779 GRCh37: 11:119549425-119549425
GRCh38: 11:119678715-119678715
49 NECTIN1 NM_002855.5(NECTIN1):c.79+4A>G SNV Uncertain Significance
731361 rs542760632 GRCh37: 11:119599181-119599181
GRCh38: 11:119728471-119728471
50 NECTIN1 NM_002855.5(NECTIN1):c.1347C>T (p.Gly449=) SNV Uncertain Significance
716974 rs116441631 GRCh37: 11:119535664-119535664
GRCh38: 11:119664954-119664954

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 membrane GO:0016020 10.48 PVR NECTIN4 NECTIN3 NECTIN2 NECTIN1 DSG4
2 membrane GO:0016021 10.48 PVR NECTIN4 NECTIN3 NECTIN2 NECTIN1 DSG4
3 cell junction GO:0030054 9.97 IRF6 CDH3 CDH17 AFDN
4 cell-cell junction GO:0005911 9.9 NECTIN3 NECTIN2 NECTIN1 DSG4 CADM3 AFDN
5 apical junction complex GO:0043296 9.73 NECTIN1 NECTIN2 NECTIN3
6 anchoring junction GO:0070161 9.72 NEXN NECTIN4 DSG4 CADM3 AFDN
7 cell-cell contact zone GO:0044291 9.56 NECTIN3 NECTIN2 NECTIN1 AFDN
8 adherens junction GO:0005912 9.47 PVR NEXN NECTIN4 NECTIN3 NECTIN1 CDH3

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 viral entry into host cell GO:0046718 9.97 PVR NECTIN4 NECTIN2 NECTIN1
2 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.85 PVR NECTIN4 NECTIN3 NECTIN1 CADM3
3 cranial skeletal system development GO:1904888 9.83 IRF6 FOXE1
4 cell adhesion GO:0007155 9.83 AFDN CADM3 CDH17 CDH3 DSG4 NECTIN1
5 lens morphogenesis in camera-type eye GO:0002089 9.81 NECTIN3 NECTIN1
6 protein localization to cell junction GO:1902414 9.8 NECTIN3 NECTIN1
7 cell-cell adhesion GO:0098609 9.8 CDH17 CDH3 DSG4 NECTIN1 NECTIN3
8 positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target GO:0002860 9.78 PVR NECTIN2
9 establishment of protein localization to plasma membrane GO:0061951 9.76 NECTIN3 AFDN
10 susceptibility to natural killer cell mediated cytotoxicity GO:0042271 9.71 PVR NECTIN2
11 susceptibility to T cell mediated cytotoxicity GO:0060370 9.62 PVR NECTIN2
12 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.62 PVR NEXN NECTIN4 NECTIN3 NECTIN2 NECTIN1
13 virion attachment to host cell GO:0019062 9.61 NECTIN1 NECTIN2

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

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 9.56 PVR NECTIN4 NECTIN2 NECTIN1
2 cell adhesion molecule binding GO:0050839 9.32 PVR NECTIN3 NECTIN2 NECTIN1 AFDN

Sources for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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