CLPED1
MCID: CLF037
MIFTS: 46

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 56 52 58 73 29 13 6 39
Orofacial Cleft 7 56 12 73 29 6 15 71
Zlotogora-Ogur Syndrome 56 12 52 58 73 71
Clped1 56 12 52 58 73
Syndactyly-Ectodermal Dysplasia-Cleft/lip Palate 12 52 58
Cleft Lip/palate-Syndactyly-Pili Torti Syndrome 12 52 58
Zlotogora-Zilberman-Tenenbaum Syndrome 12 52 58
Ectodermal Dysplasia, Cleft Lip and Palate, Mental Retardation, and Syndactyly 56 52
Cleft Lip-Palate-Ectodermal Dysplasia Syndrome 12 15
Ectodermal Dysplasia, Margarita Island Type 56 73
Ectodermal Dysplasia Margarita Type 52 73
Ed4 56 73
Ectodermal Dysplasia-Cleft Lip/palate-Mental Retardation-Syndactyly 73
Non-Syndromic Cleft Lip with or Without Cleft Palate 7 73
Syndactyly-Ectodermal Dysplasia-Cleft Lip/palate 73
Ectodermal Dysplasia 4, Hair/nail Type 12
Margarita Type of Ectodermal Dysplasia 12
Cleft Lip/palate-Syndactyly-Pili Torti 52
Margarita Island Ectodermal Dysplasia 73
Ectodermal Dysplasia, Type 4; Ed4 56
Non-Syndromic Cleft Lip/palate 7 73
Non-Syndromic Orofacial Cleft 7 73
Ectodermal Dysplasia, Type 4 56
Ectodermal Dysplasia Type 4 73
Ectodermal Dysplasia 4 12
Zlotogora Syndrome 52
Ectd4 12
Clepd 58
Edmi 73
Ofc7 73

Characteristics:

Orphanet epidemiological data:

58
zlotogora-ogur syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
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

NIH Rare Diseases : 52 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 . Visit the Orphanet disease page for more resources.

MalaCards based summary : Cleft Lip/palate-Ectodermal Dysplasia Syndrome, also known as orofacial cleft 7, is related to cleft lip/palate and chromosome 2q35 duplication syndrome. 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, testes and bone, and related phenotypes are finger syndactyly and macrotia

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

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.

More information from OMIM: 225060 PS119530

Related Diseases for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
2 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
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 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
12 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
13 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
14 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
15 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
16 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
17 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
18 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
19 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
20 hypoplasia of the zygomatic bone 58 31 frequent (33%) Frequent (79-30%) HP:0010669
21 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
22 scrotal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000046
23 abnormality of dental morphology 58 31 frequent (33%) Frequent (79-30%) HP:0006482
24 sparse lateral eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0005338
25 sparse hair 58 31 frequent (33%) Frequent (79-30%) HP:0008070
26 dystrophic toenail 58 31 frequent (33%) Frequent (79-30%) HP:0001810
27 dystrophic fingernails 58 31 frequent (33%) Frequent (79-30%) HP:0008391
28 pili torti 58 31 frequent (33%) Frequent (79-30%) HP:0003777
29 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
30 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
31 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
32 hypohidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000966
33 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
34 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
35 abnormality of the ureter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000069
36 palmoplantar hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000972
37 anodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000674
38 cleft upper lip 58 31 Very frequent (99-80%) HP:0000204
39 malar flattening 31 HP:0000272
40 abnormality of the dentition 58 Frequent (79-30%)
41 cleft palate 31 HP:0000175
42 nail dystrophy 58 Frequent (79-30%)
43 microdontia 31 HP:0000691
44 abnormal dermatoglyphics 58 Occasional (29-5%)
45 abnormality of the philtrum 31 HP:0000288
46 nail dysplasia 31 HP:0002164
47 aplasia/hypoplasia of the eyebrow 58 Frequent (79-30%)
48 triangular face 31 HP:0000325
49 cutaneous finger syndactyly 31 HP:0010554
50 sparse eyelashes 31 HP:0000653

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
cleft palate
cleft lip

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 Teeth:
microdontia
hypodontia
anodontia

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased LDL uptake GR00340-A-1 8.62 CLPTM1 NECTIN2

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
Skin, Testes, Bone, Thyroid

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. 56 6
11559849 2001
2
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. 56 6
10932188 2000
3
Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? 56 6
3035184 1987
4
Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. 56
9758630 1998
5
Syndactyly, ectodermal dysplasia, and cleft lip/palate. 56
7891379 1994
6
Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome. 56
1776626 1991
7
Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. 56
2167611 1990
8
Syndactyly, ectodermal dysplasia, and cleft lip and palate. 56
2845087 1988
9
Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. 56
2832607 1988
10
Ectodermal dysplasia. 56
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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NECTIN1 NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter)SNV Pathogenic 8969 rs104894281 11:119548444-119548444 11:119677734-119677734
2 NECTIN1 NM_002855.5(NECTIN1):c.556del (p.Glu186fs)deletion Pathogenic 8970 rs876657374 11:119548442-119548442 11:119677732-119677732
3 NECTIN1 NM_002855.5(NECTIN1):c.969dup (p.Thr324fs)duplication Pathogenic 8971 rs878853255 11:119545902-119545903 11:119675192-119675193
4 NECTIN1 NM_203285.2(NECTIN1):c.1082T>G (p.Val361Gly)SNV Benign 802808 11:119510644-119510644 11:119639934-119639934
5 NECTIN1 NM_002855.5(NECTIN1):c.1310_1312AGG[9] (p.Glu444dup)short repeat Benign 218617 rs137909701 11:119535677-119535678 11:119664967-119664968

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 plasma membrane GO:0005886 10.03 PVR NECTIN4 NECTIN3 NECTIN2 NECTIN1 CDH17
2 cell junction GO:0030054 9.87 NECTIN4 NECTIN3 NECTIN1 IRF6 CDH17 CADM3
3 cell-cell junction GO:0005911 9.65 NECTIN3 NECTIN2 NECTIN1 CADM3 AFDN
4 adherens junction GO:0005912 9.54 NECTIN4 NECTIN1 AFDN
5 cell-cell contact zone GO:0044291 9.46 NECTIN3 NECTIN2 NECTIN1 AFDN
6 hippocampal mossy fiber to CA3 synapse GO:0098686 9.4 NECTIN3 NECTIN1
7 apical junction complex GO:0043296 9.26 NECTIN3 NECTIN2 NECTIN1 AFDN
8 cell-cell adherens junction GO:0005913 9.1 PVR NECTIN4 NECTIN3 NECTIN1 CDH17 AFDN

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.86 PVR NECTIN4 NECTIN3 NECTIN2 NECTIN1 CDH17
2 viral process GO:0016032 9.83 PVR NECTIN4 NECTIN2 NECTIN1
3 cell-cell adhesion GO:0098609 9.72 NECTIN3 NECTIN1 CDH17
4 viral entry into host cell GO:0046718 9.67 PVR NECTIN4 NECTIN1
5 roof of mouth development GO:0060021 9.58 IRF6 FOXE1
6 fertilization GO:0009566 9.57 NECTIN3 NECTIN2
7 cell-cell adhesion mediated by cadherin GO:0044331 9.56 CDH17 AFDN
8 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.55 PVR NECTIN4 NECTIN3 NECTIN1 CADM3
9 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.54 PVR NECTIN2
10 lens morphogenesis in camera-type eye GO:0002089 9.51 NECTIN3 NECTIN1
11 protein localization to cell junction GO:1902414 9.5 NECTIN3 NECTIN1 AFDN
12 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.5 PVR NECTIN4 NECTIN3 NECTIN2 NECTIN1 CDH17
13 positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target GO:0002860 9.48 PVR NECTIN2
14 virion attachment to host cell GO:0019062 9.46 NECTIN2 NECTIN1
15 establishment of protein localization to plasma membrane GO:0061951 9.43 NECTIN3 AFDN
16 susceptibility to natural killer cell mediated cytotoxicity GO:0042271 9.4 PVR NECTIN2
17 susceptibility to T cell mediated cytotoxicity GO:0060370 9.37 PVR NECTIN2
18 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 signaling receptor activity GO:0038023 9.56 PVR NECTIN4 NECTIN3 NECTIN1
2 protein homodimerization activity GO:0042803 9.5 PVR NECTIN4 NECTIN3 NECTIN2 NECTIN1 CDH17
3 virus receptor activity GO:0001618 9.46 PVR NECTIN4 NECTIN2 NECTIN1
4 coreceptor activity GO:0015026 9.32 NECTIN2 NECTIN1
5 cell adhesion molecule binding GO:0050839 9.1 PVR NECTIN4 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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