CLPED1
MCID: CLF037
MIFTS: 43

Cleft Lip/palate-Ectodermal Dysplasia Syndrome (CLPED1)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral 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 59 59 74 29 13 6 40
Orofacial Cleft 7 57 12 74 29 6 15 72
Zlotogora-Ogur Syndrome 57 12 59 74 72
Clped1 57 12 59 74
Syndactyly-Ectodermal Dysplasia-Cleft/lip Palate 12 59
Cleft Lip/palate-Syndactyly-Pili Torti Syndrome 12 59
Cleft Lip-Palate-Ectodermal Dysplasia Syndrome 12 15
Ectodermal Dysplasia, Margarita Island Type 57 74
Zlotogora-Zilberman-Tenenbaum Syndrome 12 59
Ectodermal Dysplasia Margarita Type 53 74
Ed4 57 74
Ectodermal Dysplasia, Cleft Lip and Palate, Mental Retardation, and Syndactyly 57
Ectodermal Dysplasia-Cleft Lip/palate-Mental Retardation-Syndactyly 74
Non-Syndromic Cleft Lip with or Without Cleft Palate 7 74
Syndactyly-Ectodermal Dysplasia-Cleft Lip/palate 74
Margarita Type of Ectodermal Dysplasia 12
Margarita Island Ectodermal Dysplasia 74
Ectodermal Dysplasia, Type 4; Ed4 57
Non-Syndromic Cleft Lip/palate 7 74
Non-Syndromic Orofacial Cleft 7 74
Ectodermal Dysplasia, Type 4 57
Ectodermal Dysplasia Type 4 74
Clepd 59
Edmi 74
Ofc7 74

Characteristics:

Orphanet epidemiological data:

59
zlotogora-ogur syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic disorder to the zlotogora-ogur syndrome ()


HPO:

32
cleft lip/palate-ectodermal dysplasia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060773 DOID:0080400
MESH via Orphanet 45 C536726
UMLS via Orphanet 73 C2931488
UMLS 72 C1833538 C2931488

Summaries for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

UniProtKB/Swiss-Prot : 74 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 syndactyly ectodermal dysplasia cleft lip palate hand foot and bustos simosa pinto cisternas 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 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.

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:

59 32 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
2 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
3 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001770
4 bilateral cleft lip and palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002744
5 ectodermal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000968
6 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
7 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
8 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
9 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
10 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
11 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
12 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
13 highly arched eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002553
14 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610
15 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
16 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
17 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
18 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
19 abnormality of dental morphology 59 32 frequent (33%) Frequent (79-30%) HP:0006482
20 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
21 synophrys 59 32 frequent (33%) Frequent (79-30%) HP:0000664
22 sparse lateral eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0005338
23 sparse hair 59 32 frequent (33%) Frequent (79-30%) HP:0008070
24 scrotal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000046
25 dystrophic toenail 59 32 frequent (33%) Frequent (79-30%) HP:0001810
26 dystrophic fingernails 59 32 frequent (33%) Frequent (79-30%) HP:0008391
27 pili torti 59 32 frequent (33%) Frequent (79-30%) HP:0003777
28 hypoplasia of the zygomatic bone 32 frequent (33%) HP:0010669
29 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
30 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
31 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
32 hypohidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000966
33 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
34 hypodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000668
35 abnormality of the ureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000069
36 palmoplantar hyperkeratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000972
37 anodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000674
38 cleft upper lip 59 32 Very frequent (99-80%) HP:0000204
39 malar flattening 32 HP:0000272
40 abnormality of the dentition 59 Frequent (79-30%)
41 cleft palate 32 HP:0000175
42 nail dystrophy 59 Frequent (79-30%)
43 microdontia 32 HP:0000691
44 abnormal dermatoglyphics 59 Occasional (29-5%)
45 cheekbone underdevelopment 59 Frequent (79-30%)
46 abnormality of the philtrum 32 HP:0000288
47 nail dysplasia 32 HP:0002164
48 aplasia/hypoplasia of the eyebrow 59 Frequent (79-30%)
49 triangular face 32 HP:0000325
50 cutaneous finger syndactyly 32 HP:0010554

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
Skin, Bone

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. 8 71
11559849 2001
2
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. 8 71
10932188 2000
3
Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? 8 71
3035184 1987
4
Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. 8
9758630 1998
5
Syndactyly, ectodermal dysplasia, and cleft lip/palate. 8
7891379 1994
6
Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome. 8
1776626 1991
7
Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. 8
2167611 1990
8
Syndactyly, ectodermal dysplasia, and cleft lip and palate. 8
2845087 1988
9
Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. 8
2832607 1988
10
Ectodermal dysplasia. 8
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. 38
25913853 2015
12
A comprehensive review of the genetic basis of cleft lip and palate. 38
22438645 2012
13
An update on the aetiology of orofacial clefts. 38
15479962 2004

Variations for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NECTIN1 NM_203285.2(NECTIN1): c.556del (p.Glu186fs) deletion Pathogenic rs876657374 11:119548442-119548442 11:119677732-119677732
2 NECTIN1 NM_203285.2(NECTIN1): c.969dup (p.Thr324fs) duplication Pathogenic rs878853255 11:119545903-119545903 11:119675193-119675193
3 NECTIN1 NM_203285.2(NECTIN1): c.554G> A (p.Trp185Ter) single nucleotide variant Pathogenic rs104894281 11:119548444-119548444 11:119677734-119677734
4 NECTIN1 NM_203285.2(NECTIN1): c.1003+10168AGG[9] short repeat Benign rs137909701 11:119535678-119535680 11:119664968-119664970

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 NECTIN1 CDH17 CADM3 CADM1 AFDN
2 cell-cell junction GO:0005911 9.55 NECTIN2 NECTIN1 CADM3 CADM1 AFDN
3 adherens junction GO:0005912 9.54 NECTIN4 NECTIN1 AFDN
4 cell-cell contact zone GO:0044291 9.43 NECTIN2 NECTIN1 AFDN
5 cell-cell adherens junction GO:0005913 9.35 PVR NECTIN4 NECTIN1 CDH17 AFDN
6 apical junction complex GO:0043296 8.92 NECTIN4 NECTIN2 NECTIN1 AFDN
7 integral component of membrane GO:0016021 10.09 TNFRSF14 PVR NECTIN4 NECTIN2 NECTIN1 CDH17
8 plasma membrane GO:0005886 10.06 TNFRSF14 PVR NECTIN4 NECTIN2 NECTIN1 CDH17

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 cell adhesion GO:0007155 9.81 PVR NECTIN4 NECTIN2 NECTIN1 CDH17 CADM4
2 viral process GO:0016032 9.8 TNFRSF14 PVR NECTIN4 NECTIN2 NECTIN1 CADM1
3 viral entry into host cell GO:0046718 9.71 TNFRSF14 PVR NECTIN4 NECTIN1
4 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.65 PVR NECTIN4 NECTIN1 CADM3 CADM1
5 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.61 PVR NECTIN2 CADM1
6 susceptibility to natural killer cell mediated cytotoxicity GO:0042271 9.54 PVR NECTIN2 CADM1
7 cell-cell adhesion mediated by cadherin GO:0044331 9.52 CDH17 AFDN
8 positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target GO:0002860 9.51 PVR NECTIN2
9 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.5 PVR NECTIN4 NECTIN2 NECTIN1 CDH17 CADM3
10 virion attachment to host cell GO:0019062 9.49 NECTIN2 NECTIN1
11 protein localization to cell junction GO:1902414 9.48 NECTIN1 AFDN
12 susceptibility to T cell mediated cytotoxicity GO:0060370 9.46 PVR NECTIN2
13 adherens junction organization GO:0034332 9.23 PVR NECTIN4 NECTIN2 NECTIN1 CDH17 CADM3

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.7 PVR NECTIN4 NECTIN2 NECTIN1 CDH17 CADM3
2 signaling receptor activity GO:0038023 9.5 PVR NECTIN4 NECTIN1
3 virus receptor activity GO:0001618 9.35 TNFRSF14 PVR NECTIN4 NECTIN2 NECTIN1
4 coreceptor activity GO:0015026 9.26 NECTIN2 NECTIN1
5 cell adhesion molecule binding GO:0050839 9.02 PVR NECTIN4 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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