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EDMI
MCID: CLF037
MIFTS: 41

Cleft Lip/palate-Ectodermal Dysplasia Syndrome (EDMI)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

Name: Cleft Lip/palate-Ectodermal Dysplasia Syndrome 58 76 30 13 6 41
Orofacial Cleft 7 58 12 76 6 15 74
Zlotogora-Ogur Syndrome 58 12 76 74
Clped1 58 12 76
Cleft Lip-Palate-Ectodermal Dysplasia Syndrome 12 15
Ectodermal Dysplasia, Margarita Island Type 58 76
Ectodermal Dysplasia Margarita Type 54 76
Ed4 58 76
Ectodermal Dysplasia, Cleft Lip and Palate, Mental Retardation, and Syndactyly 58
Ectodermal Dysplasia-Cleft Lip/palate-Mental Retardation-Syndactyly 76
Non-Syndromic Cleft Lip with or Without Cleft Palate 7 76
Syndactyly-Ectodermal Dysplasia-Cleft/lip Palate 12
Syndactyly-Ectodermal Dysplasia-Cleft Lip/palate 76
Cleft Lip/palate-Syndactyly-Pili Torti Syndrome 12
Margarita Type of Ectodermal Dysplasia 12
Zlotogora-Zilberman-Tenenbaum Syndrome 12
Margarita Island Ectodermal Dysplasia 76
Ectodermal Dysplasia, Type 4; Ed4 58
Non-Syndromic Cleft Lip/palate 7 76
Non-Syndromic Orofacial Cleft 7 76
Ectodermal Dysplasia, Type 4 58
Ectodermal Dysplasia Type 4 76
Edmi 76
Ofc7 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
allelic disorder to the zlotogora-ogur syndrome


HPO:

33
cleft lip/palate-ectodermal dysplasia syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Oral diseases Mental diseases
See all MalaCards categories (disease lists)


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Summaries for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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UniProtKB/Swiss-Prot : 76 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 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.

Description from OMIM: 225060
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Related Diseases for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 syndactyly ectodermal dysplasia cleft lip palate hand foot 12.7
2 bustos simosa pinto cisternas syndrome 11.8
3 zlotogora syndrome 11.6
4 rosselli-gulienetti syndrome 11.5
5 acrofacial dysostosis, palagonia type 11.5
6 ectodermal dysplasia 10.4
7 cleft lip 10.4
8 cleft lip/palate 10.4
9 mature teratoma of the ovary 10.1 NECTIN2 PVR
10 acute retinal necrosis syndrome 10.1 NECTIN1 TNFRSF14
11 ovarian cystic teratoma 10.0 NECTIN2 PVR
12 herpes simplex 9.8 NECTIN1 NECTIN2 TNFRSF14
13 orofacial cleft 9.8 NECTIN1 NHLH1

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



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

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

33 (show top 50) (show all 51)
# Description HPO Frequency HPO Source Accession
1 finger syndactyly 33 hallmark (90%) HP:0006101
2 macrotia 33 hallmark (90%) HP:0000400
3 toe syndactyly 33 hallmark (90%) HP:0001770
4 bilateral cleft lip and palate 33 hallmark (90%) HP:0002744
5 ectodermal dysplasia 33 hallmark (90%) HP:0000968
6 intellectual disability 33 frequent (33%) HP:0001249
7 neurological speech impairment 33 frequent (33%) HP:0002167
8 recurrent respiratory infections 33 frequent (33%) HP:0002205
9 wide nasal bridge 33 frequent (33%) HP:0000431
10 carious teeth 33 frequent (33%) HP:0000670
11 micrognathia 33 frequent (33%) HP:0000347
12 wide intermamillary distance 33 frequent (33%) HP:0006610
13 alopecia 33 frequent (33%) HP:0001596
14 protruding ear 33 frequent (33%) HP:0000411
15 hypogonadism 33 frequent (33%) HP:0000135
16 downslanted palpebral fissures 33 frequent (33%) HP:0000494
17 bilateral single transverse palmar creases 33 frequent (33%) HP:0007598
18 abnormality of dental morphology 33 frequent (33%) HP:0006482
19 midface retrusion 33 frequent (33%) HP:0011800
20 highly arched eyebrow 33 frequent (33%) HP:0002553
21 synophrys 33 frequent (33%) HP:0000664
22 sparse lateral eyebrow 33 frequent (33%) HP:0005338
23 sparse hair 33 frequent (33%) HP:0008070
24 scrotal hypoplasia 33 frequent (33%) HP:0000046
25 dystrophic toenail 33 frequent (33%) HP:0001810
26 dystrophic fingernails 33 frequent (33%) HP:0008391
27 pili torti 33 frequent (33%) HP:0003777
28 hypoplasia of the zygomatic bone 33 frequent (33%) HP:0010669
29 seizures 33 occasional (7.5%) HP:0001250
30 eeg abnormality 33 occasional (7.5%) HP:0002353
31 hyperlordosis 33 occasional (7.5%) HP:0003307
32 hypohidrosis 33 occasional (7.5%) HP:0000966
33 abnormality of dental enamel 33 occasional (7.5%) HP:0000682
34 hypodontia 33 occasional (7.5%) HP:0000668
35 abnormality of the ureter 33 occasional (7.5%) HP:0000069
36 palmoplantar hyperkeratosis 33 occasional (7.5%) HP:0000972
37 anodontia 33 occasional (7.5%) HP:0000674
38 malar flattening 33 HP:0000272
39 cleft palate 33 HP:0000175
40 microdontia 33 HP:0000691
41 nail dysplasia 33 HP:0002164
42 triangular face 33 HP:0000325
43 cutaneous finger syndactyly 33 HP:0010554
44 cleft upper lip 33 HP:0000204
45 abnormality of the philtrum 33 HP:0000288
46 sparse eyelashes 33 HP:0000653
47 brittle hair 33 HP:0002299
48 abnormality of the ear 33 HP:0000598
49 cutaneous syndactyly of toes 33 HP:0010621
50 sparse and thin eyebrow 33 HP:0000535

Symptoms via clinical synopsis from OMIM:

58
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
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Drugs & Therapeutics for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

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Genetic Tests for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

# Genetic test Affiliating Genes
1 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 30 NECTIN1
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Anatomical Context for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

42
Bone
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Publications for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

# Title Authors Year
1
Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. ( 25913853 )
2015
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Variations for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NECTIN1 NM_002855.4(NECTIN1): c.1331_1333dupAGG (p.Glu444_Gly445insGlu) duplication Benign rs137909701 GRCh38 Chromosome 11, 119664968: 119664970
2 NECTIN1 NM_002855.4(NECTIN1): c.1331_1333dupAGG (p.Glu444_Gly445insGlu) duplication Benign rs137909701 GRCh37 Chromosome 11, 119535678: 119535680
3 NECTIN1 NM_203285.1(NECTIN1): c.554G> A (p.Trp185Ter) single nucleotide variant Pathogenic rs104894281 GRCh37 Chromosome 11, 119548444: 119548444
4 NECTIN1 NM_203285.1(NECTIN1): c.554G> A (p.Trp185Ter) single nucleotide variant Pathogenic rs104894281 GRCh38 Chromosome 11, 119677734: 119677734
5 NECTIN1 NM_203285.1(NECTIN1): c.556delG (p.Glu186Lysfs) deletion Pathogenic rs876657374 GRCh38 Chromosome 11, 119677732: 119677732
6 NECTIN1 NM_203285.1(NECTIN1): c.556delG (p.Glu186Lysfs) deletion Pathogenic rs876657374 GRCh37 Chromosome 11, 119548442: 119548442
7 NECTIN1 NM_203285.1(NECTIN1): c.969dupT (p.Thr324Tyrfs) duplication Pathogenic rs878853255 GRCh38 Chromosome 11, 119675193: 119675193
8 NECTIN1 NM_203285.1(NECTIN1): c.969dupT (p.Thr324Tyrfs) duplication Pathogenic rs878853255 GRCh37 Chromosome 11, 119545903: 119545903
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Expression for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
PAK Pathway 65
Show member pathways
 12.87 AFDN NECTIN1 NECTIN2 NECTIN4 TNFRSF14
2
Sertoli-Sertoli Cell Junction Dynamics 65
Show member pathways
 12.52 AFDN NECTIN1 NECTIN2 NECTIN4
3
Cell junction organization 67
Show member pathways
 11.85 AFDN CADM1 CADM3 CDH17 NECTIN1 NECTIN2
4
Adhesion 4
11.71 AFDN CDH17 NECTIN4 PVR
5
Cell adhesion molecules (CAMs) 38
11.51 CADM1 CADM3 NECTIN1 NECTIN2 PVR
6
T Cell Co-Signaling Pathway: Ligand-Receptor Interactions 66
11.31 NECTIN2 PVR TNFRSF14
7
Adherens junction 38
11.31 AFDN NECTIN1 NECTIN2 NECTIN4
8
Nectin adhesion pathway 1
10.83 NECTIN1 NECTIN2 PVR
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GO Terms for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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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 AFDN CADM1 CADM3 CDH17 NECTIN1 NECTIN4
2 cell-cell junction GO:0005911 9.55 AFDN CADM1 CADM3 NECTIN1 NECTIN2
3 adherens junction GO:0005912 9.54 AFDN NECTIN1 NECTIN4
4 cell-cell contact zone GO:0044291 9.43 AFDN NECTIN1 NECTIN2
5 cell-cell adherens junction GO:0005913 9.35 AFDN CDH17 NECTIN1 NECTIN4 PVR
6 apical junction complex GO:0043296 8.92 AFDN NECTIN1 NECTIN2 NECTIN4
7 integral component of membrane GO:0016021 10.09 CADM1 CADM3 CADM4 CDH17 NECTIN1 NECTIN2
8 plasma membrane GO:0005886 10.06 AFDN CADM1 CADM3 CDH17 NECTIN1 NECTIN2

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 AFDN CADM1 CADM3 CADM4 CDH17 NECTIN1
2 viral process GO:0016032 9.8 CADM1 NECTIN1 NECTIN2 NECTIN4 PVR TNFRSF14
3 viral entry into host cell GO:0046718 9.71 NECTIN1 NECTIN4 PVR TNFRSF14
4 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.65 CADM1 CADM3 NECTIN1 NECTIN4 PVR
5 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.61 CADM1 NECTIN2 PVR
6 susceptibility to natural killer cell mediated cytotoxicity GO:0042271 9.54 CADM1 NECTIN2 PVR
7 cell-cell adhesion mediated by cadherin GO:0044331 9.52 AFDN CDH17
8 positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target GO:0002860 9.51 NECTIN2 PVR
9 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.5 CADM1 CADM3 CDH17 NECTIN1 NECTIN2 NECTIN4
10 protein localization to cell junction GO:1902414 9.49 AFDN NECTIN1
11 virion attachment to host cell GO:0019062 9.48 NECTIN1 NECTIN2
12 susceptibility to T cell mediated cytotoxicity GO:0060370 9.46 NECTIN2 PVR
13 adherens junction organization GO:0034332 9.23 AFDN CADM1 CADM3 CDH17 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 protein homodimerization activity GO:0042803 9.7 CADM1 CADM3 CDH17 NECTIN1 NECTIN2 NECTIN4
2 signaling receptor activity GO:0038023 9.5 NECTIN1 NECTIN4 PVR
3 virus receptor activity GO:0001618 9.35 NECTIN1 NECTIN2 NECTIN4 PVR TNFRSF14
4 coreceptor activity GO:0015026 9.26 NECTIN1 NECTIN2
5 cell adhesion molecule binding GO:0050839 9.02 AFDN NECTIN1 NECTIN2 NECTIN4 PVR
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Sources for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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