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

AEC MCID: ANK017 MIFTS: 40	Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate (AEC) Categories: Endocrine diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

MalaCards integrated aliases for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

Name: Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate ⁵⁸ ⁷⁶ ⁴¹

Hay-Wells Syndrome ⁵⁸ ¹² ⁷⁷ ⁵⁴ ²⁶ ⁷⁶ ¹³

Aec Syndrome ⁵⁸ ¹² ⁵⁴ ²⁶ ⁷⁶ ⁵⁶

Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome ¹² ⁵⁴ ²⁶ ¹⁵

Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome ¹² ²⁶

Aec ⁵⁸ ⁷⁶

Ankyloblepharon-Ectodermal Defects, Cleft Lip/palate ⁶

Ankyloblepharon Ectodermal Defects Cleft Lip/palate ⁵⁴

Ankyloblepharon-Ectodermal Defect-Cleft Lip/palate ⁷⁶

Rapp-Hodgkin Syndrome ⁷⁴

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
allelic to eec3 , shfm4 , adult syndrome , limb-mammary syndrome , and rapp-hodgkin syndrome

HPO:

³³

ankyloblepharon-ectodermal defects-cleft lip/palate:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Endocrine diseases Oral diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0090119

OMIM ⁵⁸ 106260

MeSH ⁴⁵ C535289 D004476

SNOMED-CT ⁶⁹ 7731005

MedGen ⁴³ C0406709

SNOMED-CT via HPO ⁷⁰ 14662005 193953008 204208005 more

UMLS ⁷⁴ C1785148

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Summaries for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

NIH Rare Diseases : ⁵⁴ Hay-Wells syndrome is a form of ectodermal dysplasia, a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. The most common feature is missing patches of skin (erosions) on the scalp, neck, hands, and feet. The skin erosions can lead to infection, scarring, and hair loss. Other features include changes in skin coloring; misshapen or absent fingernails and toenails; malformed or missing teeth; increased sensitivity to heat; hearing loss; cleft lip and/or palate; and other facial abnormalities. This condition is caused by mutations in the TP63 gene and is inherited in an autosomal dominant fashion.

MalaCards based summary : Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate, also known as hay-wells syndrome, is related to wells syndrome and rapp-hodgkin syndrome, and has symptoms including pachyonychia An important gene associated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate is TP63 (Tumor Protein P63). Affiliated tissues include skin, and related phenotypes are wide nasal bridge and coarse hair

Disease Ontology : ¹² An autosomal dominant disease characterized by autosomal dominant inheritance in tissues arising from the ectoderm including

Genetics Home Reference : ²⁶ Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands.

UniProtKB/Swiss-Prot : ⁷⁶ Ankyloblepharon-ectodermal defects-cleft lip/palate: An autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate.

Wikipedia : ⁷⁷ Hay–Wells syndrome (also known as AEC syndrome; see Naming) is one of at least 150 known types of... more...

Description from OMIM: 106260

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Related Diseases for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	wells syndrome	30.8	FGFR2 TP63
2	rapp-hodgkin syndrome	11.6
3	cleft lip	11.1
4	cleft lip/palate	11.1
5	choanal atresia, posterior	10.5
6	tp63-related disorders	10.5
7	ectodermal dysplasia	10.4
8	chromosome 1q21.1 deletion syndrome, 1.35-mb	10.0	RIPK4 TP63
9	ankyloblepharon filiforme adnatum and cleft palate	10.0
10	bartsocas-papas syndrome	10.0	RIPK4 TP63
11	chromosome 2q35 duplication syndrome	10.0	FGFR2 TP63
12	chand syndrome	10.0
13	retinitis pigmentosa	10.0
14	sarcoma	10.0
15	agammaglobulinemia	10.0
16	dermatitis	10.0
17	spindle cell sarcoma	10.0
18	compartment syndrome	10.0
19	lacrimoauriculodentodigital syndrome	9.9	FGFR2 TP63
20	synostosis	9.8	FGFR2 RIPK4
21	cleft palate, isolated	9.8	FGFR2 TP63

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

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Symptoms & Phenotypes for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Human phenotypes related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

³³ (show top 50) (show all 52)

#	Description	HPO Frequency	HPO Source Accession
1	wide nasal bridge ³³	hallmark (90%)	HP:0000431
2	coarse hair ³³	hallmark (90%)	HP:0002208
3	hypohidrosis ³³	hallmark (90%)	HP:0000966
4	hyperconvex fingernails ³³	hallmark (90%)	HP:0001812
5	non-midline cleft lip ³³	hallmark (90%)	HP:0100335
6	conductive hearing impairment ³³	hallmark (90%)	HP:0000405
7	hypotrichosis ³³	hallmark (90%)	HP:0001006
8	ankyloblepharon ³³	hallmark (90%)	HP:0009755
9	dystrophic toenail ³³	hallmark (90%)	HP:0001810
10	dystrophic fingernails ³³	hallmark (90%)	HP:0008391
11	widely spaced teeth ³³	frequent (33%)	HP:0000687
12	micrognathia ³³	frequent (33%)	HP:0000347
13	palmoplantar keratoderma ³³	frequent (33%)	HP:0000982
14	abnormality of dental enamel ³³	frequent (33%)	HP:0000682
15	hypodontia ³³	frequent (33%)	HP:0000668
16	generalized hyperpigmentation ³³	frequent (33%)	HP:0007440
17	submucous cleft hard palate ³³	frequent (33%)	HP:0000176
18	sparse eyelashes ³³	frequent (33%)	HP:0000653
19	conical tooth ³³	frequent (33%)	HP:0000698
20	submucous cleft soft palate ³³	frequent (33%)	HP:0011819
21	sparse and thin eyebrow ³³	frequent (33%)	HP:0000535
22	finger syndactyly ³³	occasional (7.5%)	HP:0006101
23	delayed eruption of teeth ³³	occasional (7.5%)	HP:0000684
24	protruding ear ³³	occasional (7.5%)	HP:0000411
25	clinodactyly of the 5th finger ³³	occasional (7.5%)	HP:0004209
26	abnormality of the voice ³³	occasional (7.5%)	HP:0001608
27	ventricular septal defect ³³	occasional (7.5%)	HP:0001629
28	supernumerary nipple ³³	occasional (7.5%)	HP:0002558
29	absent lacrimal punctum ³³	occasional (7.5%)	HP:0001092
30	cleft palate ³³		HP:0000175
31	nail dystrophy ³³		HP:0008404
32	patent ductus arteriosus ³³		HP:0001643
33	blepharitis ³³		HP:0000498
34	hypospadias ³³		HP:0000047
35	hypoplasia of the maxilla ³³		HP:0000327
36	anonychia ³³		HP:0001798
37	abnormality of the nervous system ³³		HP:0000707
38	conjunctivitis ³³		HP:0000509
39	sparse body hair ³³		HP:0002231
40	cleft upper lip ³³		HP:0000204
41	atresia of the external auditory canal ³³		HP:0000413
42	micropenis ³³		HP:0000054
43	absent eyelashes ³³		HP:0000561
44	anhidrosis ³³		HP:0000970
45	2-3 toe syndactyly ³³		HP:0004691
46	hyperpigmentation of the skin ³³		HP:0000953
47	hyperconvex nail ³³		HP:0001795
48	lacrimal duct atresia ³³		HP:0000564
49	selective tooth agenesis ³³		HP:0001592
50	oval face ³³		HP:0000300

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Teeth:
widely spaced teeth
hypodontia
selective tooth agenesis
conical teeth

Skin Nails Hair Skin:
hyperkeratosis
hyperpigmentation
scalp erosions
red, cracking, peeling skin at birth
palmar and plantar keratoderma
more

Head And Neck Eyes:
blepharitis
conjunctivitis
lacrimal duct atresia
ankyloblepharon filiforme adnatum
sparse to absent eyelashes

Cardiovascular Heart:
ventricular septal defect

Head And Neck Face:
oval face
maxillary hypoplasia

Neurologic Central Nervous System:
normal intelligence

Head And Neck Nose:
broadened nasal bridge

Genitourinary Internal Genitalia Female:
vaginal dryness

Skin Nails Hair Nails:
absent nails
dystrophic nails
hyperconvex nails

Head And Neck Mouth:
cleft palate
cleft lip

Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary External Genitalia Male:
hypospadias
micropenis

Skin Nails Hair Hair:
sparse body hair
patchy alopecia
sparse to absent eyelashes
wiry, sparse hair

Head And Neck Ears:
conductive hearing loss
atretic external auditory canal
cup-shaped auricles

Head And Neck Head:
scalp erosions

Chest Breasts:
supernumerary nipples

Skeletal Feet:
2-3 toe soft tissue syndactyly

Clinical features from OMIM:

106260

UMLS symptoms related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

pachyonychia

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

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased substrate adherent cell growth	GR00193-A-2	9.23	FGFR2 RIPK4
2	Decreased substrate adherent cell growth	GR00193-A-3	9.23	FGFR2 RIPK4

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Drugs & Therapeutics for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Search Clinical Trials , NIH Clinical Center for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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Genetic Tests for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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Anatomical Context for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

MalaCards organs/tissues related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

⁴²

Skin

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Publications for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Articles related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

(show all 34)

#	Title	Authors	Year
1	A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders. ( 29956718 )	Niculescu L....Giehl K.A.	2018
2	Expanding the genetic profile of Hay-Wells syndrome. ( 29329681 )	Romero-PAcrez D....RamA^n-Sapena R.	2018
3	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome. ( 28230601 )	Guo S....Chen L.	2017
4	A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T&gt;C mutation on the TP63 gene. ( 29140732 )	Koubek M....MaA!ek P.	2017
5	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case with a novel p63 mutation associated with abnormal keratohyalin granules. ( 24898013 )	Hida T....Yamashita T.	2014
6	Syndrome in question. Hay-Wells syndrome. ( 24770526 )	Tonolli V.M....Abbade L.P.	2014
7	Renal failure in Hay-Wells syndrome. ( 24231488 )	Mohan D....Alrukhaimi M.	2013
8	Case report: unusual dental morphology in a child with ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. ( 21806908 )	Fitzgerald K....McKiernan E.	2011
9	Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome. ( 23056777 )	Rachisan A.L....Miu N.	2011
10	Hay-Wells syndrome of ectodermal dysplasia: A rare autosomal dominant disorder. ( 22346004 )	Nagaveni N.B....Umashankara K.V.	2011
11	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome in monozygotic twins: two cases report and reviews. ( 21299053 )	Jenwitheesuk K....Jetsrisuparb C.	2010
12	Hay-Wells syndrome: a case report. ( 20520942 )	Rosa D.J....Gamonal A.	2010
13	Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. ( 19697429 )	Dishop M.K....Hicks M.J.	2009
14	International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. ( 19353643 )	Fete M....Bree A.F.	2009
15	Clinical lessons learned from the International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. ( 19676057 )	Bree A.F.	2009
16	Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. ( 19697430 )	Cole P....Hollier L.H.	2009
17	Proceedings of the International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome, November 8-10, 2006, Houston, Texas, USA. ( 20049983 )		2009
18	Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. ( 19676059 )	Sutton V.R....Bacino C.A.	2009
19	Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. ( 19681128 )	Julapalli M.R....Bree A.F.	2009
20	Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). ( 19676060 )	Rinne T....van Bokhoven H.	2009
21	Hay-Wells syndrome in a child with mutation in the TP73L gene. ( 17910675 )	Garcia Bartels N....Blume-Peytavi U.	2007
22	Hay-wells syndrome of ectodermal dysplasia. ( 16444073 )	Kulkarni M.L....Gayatri K.	2006
23	The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. ( 16319531 )	Lo Iacono M....CalabrA^ V.	2006
24	Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. ( 16532463 )	Kannu P....McGrath J.A.	2006
25	Hay-Wells syndrome (AEC): a case report. ( 16910923 )	Macias E....Cobo J.	2006
26	Head and neck manifestations of Hay-Wells syndrome. ( 15632936 )	Propst E.J....Papsin B.C.	2005
27	A neonate with denuded skin: Hay-Wells syndrome. ( 15262880 )	Lodha A....Ng E.	2004
28	The Delta Np63 alpha phosphoprotein binds the p21 and 14-3-3 sigma promoters in vivo and has transcriptional repressor activity that is reduced by Hay-Wells syndrome-derived mutations. ( 12640112 )	Westfall M.D....Pietenpol J.A.	2003
29	P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. ( 12692135 )	Fomenkov A....Ratovitski E.	2003
30	Bilateral nephroblastoma in familial Hay-Wells syndrome associated with familial reticulate pigmentation of the skin. ( 12116255 )	Drut R....Drut R.M.	2002
31	Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. ( 11159940 )	McGrath J.A....van Bokhoven H.	2001
32	What syndrome is this? Ankyloblepharon-ectodermal defects--cleft lip and palate (Hay-Wells) syndrome. ( 9336818 )	Mancini A.J....Paller A.S.	1997
33	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome ( 20556892 )	Pagon R.A....Stephens K.	1993
34	Hay-Wells syndrome. ( 3809025 )	Shwayder T.A....Miller M.E.	1986

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Genes for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Genes related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TP63	Tumor Protein P63	Protein Coding	1269.69	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	19239083 19676060 12766194 (more) 11159940 16365259 12692135 15725251 19676059 12932250 19840326 16319531 17910675 15347331 16532463 18603493 16679535 11929852 19697429 14684701 19681128 16258268
2	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	21.13	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	12692135
3	RIPK4	Receptor Interacting Serine/Threonine Kinase 4	Protein Coding	16.22	DISEASES inferred ¹⁵
4	KRT83	Keratin 83	Protein Coding	16.13	DISEASES inferred ¹⁵
5	ZNF750	Zinc Finger Protein 750	Protein Coding	15.84	DISEASES inferred ¹⁵
6	HRNR	Hornerin	Protein Coding	15.59	DISEASES inferred ¹⁵

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Variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

UniProtKB/Swiss-Prot genetic disease variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	TP63	p.Leu553Phe	VAR_020879	rs121908842
2	TP63	p.Cys561Gly	VAR_020881	rs121908843

ClinVar genetic disease variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TP63	NM_003722.4(TP63): c.1659A> T (p.Leu553Phe)	single nucleotide variant	Pathogenic	rs121908842	GRCh37	Chromosome 3, 189608584: 189608584
2	TP63	NM_003722.4(TP63): c.1659A> T (p.Leu553Phe)	single nucleotide variant	Pathogenic	rs121908842	GRCh38	Chromosome 3, 189890795: 189890795
3	TP63	NM_003722.4(TP63): c.1681T> G (p.Cys561Gly)	single nucleotide variant	Pathogenic	rs121908843	GRCh37	Chromosome 3, 189608606: 189608606
4	TP63	NM_003722.4(TP63): c.1681T> G (p.Cys561Gly)	single nucleotide variant	Pathogenic	rs121908843	GRCh38	Chromosome 3, 189890817: 189890817
5	TP63	NM_003722.4(TP63): c.1646T> C (p.Ile549Thr)	single nucleotide variant	Pathogenic	rs121908845	GRCh37	Chromosome 3, 189607267: 189607267
6	TP63	NM_003722.4(TP63): c.1646T> C (p.Ile549Thr)	single nucleotide variant	Pathogenic	rs121908845	GRCh38	Chromosome 3, 189889478: 189889478
7	TP63	TP63, 11-BP DUP, NT1716	duplication	Pathogenic

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Expression for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Search GEO for disease gene expression data for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate.

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Pathways for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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GO Terms for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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

#	Name	GO ID	Score	Top Affiliating Genes
1	animal organ morphogenesis	GO:0009887	9.37	FGFR2 TP63
2	epithelial cell differentiation	GO:0030855	9.32	FGFR2 TP63
3	hair follicle morphogenesis	GO:0031069	9.26	FGFR2 TP63
4	establishment of skin barrier	GO:0061436	9.16	HRNR TP63
5	epidermis development	GO:0008544	9.13	KRT83 TP63 ZNF750
6	squamous basal epithelial stem cell differentiation involved in prostate gland acinus development	GO:0060529	8.62	FGFR2 TP63

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Sources for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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²⁰ FMA

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

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³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate (AEC)

Aliases & Classifications for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

MalaCards integrated aliases for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Related Diseases for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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

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

Symptoms & Phenotypes for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Human phenotypes related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

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

Drugs & Therapeutics for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Genetic Tests for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Anatomical Context for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

MalaCards organs/tissues related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

Publications for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Articles related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

Genes for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Genes related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate (1 elite genes):

Variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

UniProtKB/Swiss-Prot genetic disease variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

ClinVar genetic disease variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

Expression for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Pathways for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

GO Terms for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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

Sources for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate