Cleft Lip/palate-Ectodermal Dysplasia Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare skin diseases

Developmental anomalies during embryogenesis

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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

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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:

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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

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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

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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

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Anatomical Context for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

MalaCards : Skin, Bone, Heart

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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	Sozen MA...Spritz RA	11559849	2001
2	Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. ⁶² ⁵⁷ ⁵	Suzuki K...Spritz RA	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	Zlotogora J...Wexler MR	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	Yoshida K...Niizeki H	25913853	2015
5	Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. ⁶² ⁵⁷	Suzuki K...Spritz RA	9758630	1998
6	Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. ⁶² ⁵⁷	Rodini ES...Richieri-Costa A	2167611	1990
7	Syndactyly, ectodermal dysplasia, and cleft lip/palate. ⁵⁷	Zlotogora J	7891379	1994
8	Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome. ⁵⁷	Bustos T...Ramela M	1776626	1991
9	Syndactyly, ectodermal dysplasia, and cleft lip and palate. ⁵⁷	Zlotogora J...Ogur G	2845087	1988
10	Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. ⁵⁷	Ogur G...Yuksel M	2832607	1988
11	Ectodermal dysplasia. ⁵⁷	ROSSELLI D...GULIENETTI R	14494246	1961
12	Health Risk Assessment and Multivariate Statistical Analysis of Heavy Metals in Vegetables of Khyber Pakhtunkhwa Region, Pakistan. ⁶²	Ullah H...Ullah I	35146633	2022
13	The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility. ⁶²	Askarian S...Joodi M	35426585	2022
14	Disruption of the nectin-afadin complex recapitulates features of the human cleft lip/palate syndrome CLPED1. ⁶²	Lough KJ...Williams SE	32554531	2020
15	Pasture dry matter intake per cow in intensive dairy production systems: effects of grazing and feeding management. ⁶²	Mendez MN...Aguerre M	31650937	2020
16	Predicting feed intake and feed efficiency in lactating dairy cows using digesta marker techniques. ⁶²	Guinguina A...Huhtanen P	30806342	2019
17	Smart campus: Data on energy consumption in an ICT-driven university. ⁶²	Popoola SI...Takpor OA	29276746	2018
18	Implant-supported Oral Rehabilitation in Child with Ectodermal Dysplasia - 4-year Follow-up. ⁶²	Cezaria Triches T...Bolan M	28381734	2017
19	Individual variation and repeatability of methane production from dairy cows estimated by the CO₂ method in automatic milking system. ⁶²	Haque MN...Madsen J	25951878	2015
20	Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation. ⁶²	Fortugno P...Brancati F	24577405	2014
21	Nutritional and ecological evaluation of dairy farming systems based on concentrate feeding regimes in semi-arid environments of Jordan. ⁶²	Alqaisi O...Susenbeth A	24596499	2014
22	Epicardial adipose tissue assessed by cardiac magnetic resonance imaging in patients with heart failure due to dilated cardiomyopathy. ⁶²	Doesch C...Papavassiliu T	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	Cheng HQ...Tang SJ	22455396	2012
24	Impact of functional, morphological and clinical parameters on epicardial adipose tissue in patients with coronary artery disease. ⁶²	Doesch C...Papavassiliu T	22813697	2012
25	A comprehensive review of the genetic basis of cleft lip and palate. ⁶²	Kohli SS...Kohli VS	22438645	2012
26	Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. ⁶²	Brancati F...Dallapiccola B	20691405	2010
27	[Nectin and nectin-like molecules as markers, actors and targets in cancer]. ⁶²	Fournier G...Lopez M	20346277	2010
28	Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate. ⁶²	Sozen MA...Spritz RA	19715471	2009
29	PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. ⁶²	Avila JR...Murray JC	17089422	2006
30	Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. ⁶²	Scapoli L...Carinci F	16674562	2006
31	COMP mutations, chondrocyte function and cartilage matrix. ⁶²	Hecht JT...Cole WG	15694129	2005
32	An update on the aetiology of orofacial clefts. ⁶²	Wong FK...Hagg U	15479962	2004
33	Comparative usage of herpesvirus entry mediator A and nectin-1 by laboratory strains and clinical isolates of herpes simplex virus. ⁶²	Krummenacher C...Eisenberg RJ	15110526	2004
34	Calreticulin, PDI, Grp94 and BiP chaperone proteins are associated with retained COMP in pseudoachondroplasia chondrocytes. ⁶²	Hecht JT...Duke PJ	11470401	2001
35	Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. ⁶²	McGrath JA...van Bokhoven H	11159940	2001
36	Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family. ⁶²	Richieri-Costa A...Pinheiro M	1456284	1992

Sources

Genes for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Genes related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NECTIN1	Nectin Cell Adhesion Molecule 1	Protein Coding	1393.56	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ ¹⁴	3035184 10932188 11559849
2	AFDN	Afadin, Adherens Junction Formation Factor	Protein Coding	12.46	DISEASES inferred ¹⁴ ¹⁴
3	FOXE1	Forkhead Box E1	Protein Coding	12.46	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
4	NECTIN4	Nectin Cell Adhesion Molecule 4	Protein Coding	12.36	DISEASES inferred ¹⁴ ¹⁴
5	PVR	PVR Cell Adhesion Molecule	Protein Coding	11.74	DISEASES inferred ¹⁴ ¹⁴
6	NECTIN2	Nectin Cell Adhesion Molecule 2	Protein Coding	11.31	DISEASES inferred ¹⁴ ¹⁴
7	NECTIN3	Nectin Cell Adhesion Molecule 3	Protein Coding	10.69	DISEASES inferred ¹⁴ ¹⁴
8	CADM3	Cell Adhesion Molecule 3	Protein Coding	9.53	DISEASES inferred ¹⁴ ¹⁴
9	TBX22	T-Box Transcription Factor 22	Protein Coding	9.49	DISEASES inferred ¹⁴ ¹⁴
10	CLPTM1	CLPTM1 Regulator Of GABA Type A Receptor Forward Trafficking	Protein Coding	9.35	DISEASES inferred ¹⁴ ¹⁴
11	IRF6	Interferon Regulatory Factor 6	Protein Coding	9.29	DISEASES inferred ¹⁴ ¹⁴
12	DSG4	Desmoglein 4	Protein Coding	9.1	DISEASES inferred ¹⁴ ¹⁴
13	CDH17	Cadherin 17	Protein Coding	8.66	DISEASES inferred ¹⁴ ¹⁴
14	NEXN	Nexilin F-Actin Binding Protein	Protein Coding	8.4	DISEASES inferred ¹⁴ ¹⁴
15	CDH3	Cadherin 3	Protein Coding	7.82	DISEASES inferred ¹⁴ ¹⁴

Sources

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

Sources

Expression for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

Sources

Pathways for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	12.87	NECTIN4 NECTIN3 NECTIN2 NECTIN1 AFDN
2	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.44	NECTIN4 NECTIN3 NECTIN2 NECTIN1 AFDN
3	Cell junction organization ⁶⁶ Show member pathways Adherens junctions interactions ⁶⁶ Cell-Cell communication ⁶⁶ Cell-cell junction organization ⁶⁶ Cell-extracellular matrix interactions ⁶⁶ Localization of the PINCH-ILK-PARVIN complex to focal adhesions ⁶⁶ Nectin/Necl trans heterodimerization ⁶⁶ Regulation of cytoskeletal remodeling and cell spreading by IPP complex components ⁶⁶ SDK interactions ⁶⁶ Signal regulatory protein family interactions ⁶⁶ Tight junction interactions ⁶⁶ Type I hemidesmosome assembly ⁶⁶	11.89	PVR NECTIN4 NECTIN3 NECTIN2 NECTIN1 CDH3
4	Adhesion ³	11.64	PVR NECTIN4 CDH3 CDH17 AFDN
5	Stabilization and expansion of the E-cadherin adherens junction ⁶¹	10.99	NECTIN2 AFDN
6	Cell adhesion_Cadherin-mediated cell adhesion ²²	10.92	CDH3 AFDN
7	Nectin adhesion pathway ⁶¹	10.8	PVR NECTIN3 NECTIN2 NECTIN1 AFDN

Sources

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

Sources for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CLPED1 MCID: CLF037 MIFTS: 52	Cleft Lip/palate-Ectodermal Dysplasia Syndrome (CLPED1) Categories: Fetal diseases, Genetic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Cleft Lip/palate-Ectodermal Dysplasia Syndrome (CLPED1)

Aliases & Classifications for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

Characteristics:

Inheritance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

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

Drugs & Therapeutics 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:

Anatomical Context for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

Publications for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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Genes for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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Variations for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

Expression for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Pathways for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

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

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:

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

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

Sources for Cleft Lip/palate-Ectodermal Dysplasia Syndrome