EDMI
MCID: CLF037
MIFTS: 43

Cleft Lip/palate-Ectodermal Dysplasia Syndrome (EDMI)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare 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 75 29 13 6 40
Orofacial Cleft 7 57 75 6 73
Zlotogora-Ogur Syndrome 57 75 73
Clped1 57 12 75
Cleft Lip-Palate-Ectodermal Dysplasia Syndrome 12 15
Ectodermal Dysplasia, Margarita Island Type 57 75
Ectodermal Dysplasia Margarita Type 53 75
Ed4 57 75
Ectodermal Dysplasia, Cleft Lip and Palate, Mental Retardation, and Syndactyly 57
Ectodermal Dysplasia-Cleft Lip/palate-Mental Retardation-Syndactyly 75
Non-Syndromic Cleft Lip with or Without Cleft Palate 7 75
Syndactyly-Ectodermal Dysplasia-Cleft/lip Palate 12
Syndactyly-Ectodermal Dysplasia-Cleft Lip/palate 75
Cleft Lip/palate-Syndactyly-Pili Torti Syndrome 12
Margarita Type of Ectodermal Dysplasia 12
Zlotogora-Zilberman-Tenenbaum Syndrome 12
Margarita Island Ectodermal Dysplasia 75
Ectodermal Dysplasia, Type 4; Ed4 57
Non-Syndromic Cleft Lip/palate 7 75
Non-Syndromic Orofacial Cleft 7 75
Ectodermal Dysplasia, Type 4 57
Ectodermal Dysplasia Type 4 75
Edmi 75
Ofc7 75

Characteristics:

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:



Summaries for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

UniProtKB/Swiss-Prot : 75 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 ectodermal dysplasia and syndactyly ectodermal dysplasia cleft lip palate hand foot. 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 ovary, and related phenotypes are malar flattening and finger syndactyly

Disease Ontology : 12 An autosomal recessive disease 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.

Description from OMIM: 225060

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

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

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

32 (show top 50) (show all 51)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 finger syndactyly 32 hallmark (90%) HP:0006101
3 intellectual disability 32 frequent (33%) HP:0001249
4 seizures 32 occasional (7.5%) HP:0001250
5 neurological speech impairment 32 frequent (33%) HP:0002167
6 eeg abnormality 32 occasional (7.5%) HP:0002353
7 hyperlordosis 32 occasional (7.5%) HP:0003307
8 macrotia 32 hallmark (90%) HP:0000400
9 recurrent respiratory infections 32 frequent (33%) HP:0002205
10 wide nasal bridge 32 frequent (33%) HP:0000431
11 carious teeth 32 frequent (33%) HP:0000670
12 cleft palate 32 HP:0000175
13 micrognathia 32 frequent (33%) HP:0000347
14 microdontia 32 HP:0000691
15 hypohidrosis 32 occasional (7.5%) HP:0000966
16 wide intermamillary distance 32 frequent (33%) HP:0006610
17 alopecia 32 frequent (33%) HP:0001596
18 protruding ear 32 frequent (33%) HP:0000411
19 hypogonadism 32 frequent (33%) HP:0000135
20 downslanted palpebral fissures 32 frequent (33%) HP:0000494
21 bilateral single transverse palmar creases 32 frequent (33%) HP:0007598
22 abnormality of dental enamel 32 occasional (7.5%) HP:0000682
23 hypodontia 32 occasional (7.5%) HP:0000668
24 abnormality of dental morphology 32 frequent (33%) HP:0006482
25 midface retrusion 32 frequent (33%) HP:0011800
26 highly arched eyebrow 32 frequent (33%) HP:0002553
27 nail dysplasia 32 HP:0002164
28 triangular face 32 HP:0000325
29 cutaneous finger syndactyly 32 HP:0010554
30 toe syndactyly 32 hallmark (90%) HP:0001770
31 cleft upper lip 32 HP:0000204
32 synophrys 32 frequent (33%) HP:0000664
33 abnormality of the ureter 32 occasional (7.5%) HP:0000069
34 sparse lateral eyebrow 32 frequent (33%) HP:0005338
35 sparse hair 32 frequent (33%) HP:0008070
36 scrotal hypoplasia 32 frequent (33%) HP:0000046
37 dystrophic toenail 32 frequent (33%) HP:0001810
38 dystrophic fingernails 32 frequent (33%) HP:0008391
39 abnormality of the philtrum 32 HP:0000288
40 sparse eyelashes 32 HP:0000653
41 bilateral cleft lip and palate 32 hallmark (90%) HP:0002744
42 pili torti 32 frequent (33%) HP:0003777
43 palmoplantar hyperkeratosis 32 occasional (7.5%) HP:0000972
44 brittle hair 32 HP:0002299
45 ectodermal dysplasia 32 hallmark (90%) HP:0000968
46 abnormality of the ear 32 HP:0000598
47 anodontia 32 occasional (7.5%) HP:0000674
48 cutaneous syndactyly of toes 32 HP:0010621
49 sparse and thin eyebrow 32 HP:0000535
50 progressive hypotrichosis 32 HP:0002296

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

Anatomical Context for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

41
Bone, Ovary

Publications for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

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 Assembly Location
1 NECTIN1 NM_203285.1(NECTIN1): c.554G> A (p.Trp185Ter) single nucleotide variant Pathogenic rs104894281 GRCh37 Chromosome 11, 119548444: 119548444
2 NECTIN1 NM_203285.1(NECTIN1): c.554G> A (p.Trp185Ter) single nucleotide variant Pathogenic rs104894281 GRCh38 Chromosome 11, 119677734: 119677734
3 NECTIN1 NM_203285.1(NECTIN1): c.556delG (p.Glu186Lysfs) deletion Pathogenic rs876657374 GRCh38 Chromosome 11, 119677732: 119677732
4 NECTIN1 NM_203285.1(NECTIN1): c.556delG (p.Glu186Lysfs) deletion Pathogenic rs876657374 GRCh37 Chromosome 11, 119548442: 119548442
5 NECTIN1 NM_203285.1(NECTIN1): c.969dupT (p.Thr324Tyrfs) duplication Pathogenic rs878853255 GRCh38 Chromosome 11, 119675193: 119675193
6 NECTIN1 NM_203285.1(NECTIN1): c.969dupT (p.Thr324Tyrfs) duplication Pathogenic rs878853255 GRCh37 Chromosome 11, 119545903: 119545903
7 NECTIN1 NM_002855.4(NECTIN1): c.1331_1333dupAGG (p.Glu444_Gly445insGlu) duplication Benign rs753988307 GRCh38 Chromosome 11, 119664968: 119664970
8 NECTIN1 NM_002855.4(NECTIN1): c.1331_1333dupAGG (p.Glu444_Gly445insGlu) duplication Benign rs753988307 GRCh37 Chromosome 11, 119535678: 119535680

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 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 viral process GO:0016032 9.85 CADM1 NECTIN1 NECTIN2 NECTIN4 PVR TNFRSF14
2 cell adhesion GO:0007155 9.81 AFDN CADM1 CADM3 CADM4 CDH17 NECTIN1
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 cell-cell adhesion mediated by cadherin GO:0044331 9.52 AFDN CDH17
7 positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target GO:0002860 9.51 NECTIN2 PVR
8 susceptibility to natural killer cell mediated cytotoxicity GO:0042271 9.5 CADM1 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

Sources for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....