AEC
MCID: ANK017
MIFTS: 42

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

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

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 57 74 40
Hay-Wells Syndrome 57 12 75 53 25 59 74 13
Aec Syndrome 57 12 53 25 59 74 55
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome 12 53 25 59 15
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome 12 25
Aec 57 74
Ankyloblepharon-Ectodermal Defects, Cleft Lip/palate 6
Ankyloblepharon Ectodermal Defects Cleft Lip/palate 53
Ankyloblepharon-Ectodermal Defect-Cleft Lip/palate 74
Rapp-Hodgkin Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
ankyloblepharon-ectodermal defects-cleft lip/palate:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090119
OMIM 57 106260
SNOMED-CT 68 7731005
MESH via Orphanet 45 C535289
ICD10 via Orphanet 34 Q82.4
UMLS via Orphanet 73 C1785148
Orphanet 59 ORPHA1071
MedGen 42 C0406709
UMLS 72 C1785148

Summaries for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Genetics Home Reference : 25 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. Among the most common features of AEC syndrome are missing patches of skin (erosions). In affected infants, skin erosions most commonly occur on the scalp. They tend to recur throughout childhood and into adulthood, frequently affecting the scalp, neck, hands, and feet. The skin erosions range from mild to severe and can lead to infection, scarring, and hair loss. Other ectodermal abnormalities in AEC syndrome include changes in skin coloring; brittle, sparse, or missing hair; misshapen or absent fingernails and toenails; and malformed or missing teeth. Affected individuals also report increased sensitivity to heat and a reduced ability to sweat. Many infants with AEC syndrome are born with an eyelid condition known as ankyloblepharon filiforme adnatum, in which strands of tissue partially or completely fuse the upper and lower eyelids. Most people with AEC syndrome are also born with an opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both. Cleft lip or cleft palate can make it difficult for affected infants to suck, so these infants often have trouble feeding and do not grow and gain weight at the expected rate (failure to thrive). Additional features of AEC syndrome can include limb abnormalities, most commonly fused fingers and toes (syndactyly). Less often, affected individuals have permanently bent fingers and toes (camptodactyly) or a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). Hearing loss is common, occurring in more than 90 percent of children with AEC syndrome. Some affected individuals have distinctive facial features, such as small jaws that cannot open fully and a narrow space between the upper lip and nose (philtrum). Other signs and symptoms can include the opening of the urethra on the underside of the penis (hypospadias) in affected males, digestive problems, absent tear duct openings in the eyes, and chronic sinus or ear infections. A condition known as Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of AEC syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum.

MalaCards based summary : Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate, also known as hay-wells syndrome, is related to wells syndrome and chromosome 2q35 duplication 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, eye and bone, and related phenotypes are wide nasal bridge and coarse hair

Disease Ontology : 12 An autosomal dominant disease that is characterized by congenital ectodermal dysplasia including ankyloblepharon filiforme adnatum and cleft lip and palate, and that has material basis in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27.

NIH Rare Diseases : 53 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC 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. Rapp-Hodgkin syndrome was classified as a separate disorder until it was discovered that it result from mutations in the same part of the TP63 gene, and, therefore, most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum.

UniProtKB/Swiss-Prot : 74 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 : 75 Hay-Wells syndrome (also known as AEC syndrome; see Naming) is one of at least 150 known types of... more...

More information from OMIM: 106260

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 top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 wells syndrome 31.3 TP63 FGFR2
2 chromosome 2q35 duplication syndrome 29.9 TP63 FGFR2 BHLHA9
3 split hand-foot malformation 29.2 TP63 BHLHA9
4 cleft lip 11.1
5 cleft lip/palate 11.1
6 ectodermal dysplasia 11.0
7 tp63-related disorders 10.9
8 cleft palate, isolated 10.7
9 rapp-hodgkin syndrome 10.7
10 hair whorl 10.5
11 otitis media 10.5
12 split-hand/foot malformation 1 10.5
13 choanal atresia, posterior 10.5
14 autosomal genetic disease 10.5
15 hypospadias 10.5
16 dental caries 10.5
17 skin disease 10.5
18 hard palate cancer 10.5
19 otitis externa 10.5
20 pili torti 10.5
21 orofacial clefting syndrome 10.5
22 isolated split hand-split foot malformation 10.5
23 bartsocas-papas syndrome 10.1 TP63 RIPK4
24 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.1
25 chand syndrome 10.1
26 anhidrosis 10.1
27 chromosome 1q21.1 deletion syndrome, 1.35-mb 10.1 TP63 RIPK4
28 wilms tumor 1 10.0
29 pseudovaginal perineoscrotal hypospadias 10.0
30 wilms tumor 5 10.0
31 focal segmental glomerulosclerosis 10.0
32 urethral stricture 10.0
33 epidermolysis bullosa 10.0
34 kidney disease 10.0
35 end stage renal failure 10.0
36 adult syndrome 10.0
37 gastroesophageal reflux 10.0
38 taurodontism 10.0
39 ataxia and polyneuropathy, adult-onset 10.0
40 limb-mammary syndrome 10.0
41 polydactyly 10.0
42 body mass index quantitative trait locus 1 10.0
43 sarcoma 10.0
44 mycoplasma pneumoniae pneumonia 10.0
45 toxic shock syndrome 10.0
46 autosomal dominant cerebellar ataxia 10.0
47 keratosis 10.0
48 rectum cancer 10.0
49 constipation 10.0
50 agammaglobulinemia 10.0

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



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:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
2 coarse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002208
3 hypohidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000966
4 hyperconvex fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001812
5 non-midline cleft lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0100335
6 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
7 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
8 ankyloblepharon 59 32 hallmark (90%) Very frequent (99-80%) HP:0009755
9 dystrophic toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001810
10 dystrophic fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0008391
11 widely spaced teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000687
12 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
13 palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0000982
14 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
15 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
16 generalized hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007440
17 submucous cleft hard palate 59 32 frequent (33%) Frequent (79-30%) HP:0000176
18 sparse eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000653
19 conical tooth 59 32 frequent (33%) Frequent (79-30%) HP:0000698
20 submucous cleft soft palate 59 32 frequent (33%) Frequent (79-30%) HP:0011819
21 sparse and thin eyebrow 32 frequent (33%) HP:0000535
22 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
23 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
24 delayed eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000684
25 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
26 abnormality of the voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001608
27 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
28 supernumerary nipple 59 32 occasional (7.5%) Occasional (29-5%) HP:0002558
29 absent lacrimal punctum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001092
30 cleft palate 59 32 Frequent (79-30%) HP:0000175
31 hyperconvex nail 59 32 Very frequent (99-80%) HP:0001795
32 nail dystrophy 32 HP:0008404
33 patent ductus arteriosus 32 HP:0001643
34 blepharitis 32 HP:0000498
35 hypospadias 32 HP:0000047
36 hypoplasia of the maxilla 32 HP:0000327
37 micropenis 32 HP:0000054
38 cleft upper lip 32 HP:0000204
39 anonychia 32 HP:0001798
40 abnormality of the nervous system 32 HP:0000707
41 conjunctivitis 32 HP:0000509
42 sparse body hair 32 HP:0002231
43 atresia of the external auditory canal 32 HP:0000413
44 absent eyelashes 32 HP:0000561
45 anhidrosis 32 HP:0000970
46 hyperpigmentation of the skin 32 HP:0000953
47 sparse eyebrow 59 Frequent (79-30%)
48 2-3 toe syndactyly 32 HP:0004691
49 lacrimal duct atresia 32 HP:0000564
50 selective tooth agenesis 32 HP:0001592

Symptoms via clinical synopsis from OMIM:

57
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

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

Head And Neck Head:
scalp erosions

Chest Breasts:
supernumerary nipples

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

Genitourinary Internal Genitalia Female:
vaginal dryness

Neurologic Central Nervous System:
normal intelligence

Head And Neck Nose:
broadened nasal bridge

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-2 8.92 FGFR2 RIPK4
2 Decreased substrate adherent cell growth GR00193-A-3 8.92 FGFR2 RIPK4

MGI Mouse Phenotypes related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 BHLHA9 FGFR2 RIPK4 TP63

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

Search Clinical Trials , NIH Clinical Center 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:

41
Skin, Eye, Bone

Publications for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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

(show top 50) (show all 87)
# Title Authors PMID Year
1
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. 9 38 8 71
11159940 2001
2
An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology. 8 71
19239083 2008
3
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. 8 71
15200513 2004
4
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. 8 71
10886756 2000
5
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. 9 38 8
19676059 2009
6
Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 9 38 8
19697429 2009
7
TP63-Related Disorders 38 71
20556892 2010
8
Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis. 38 71
19353588 2009
9
Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 38 8
19697430 2009
10
International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. 38 8
19353643 2009
11
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. 9 8
14684701 2003
12
Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome? 38 8
8411079 1993
13
Ankyloblepharon filiforme adnatum. 38 8
1536181 1992
14
Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome. 38 8
3605196 1987
15
DeltaNp63 knockdown mice: A mouse model for AEC syndrome. 8
19681108 2009
16
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. 8
10535733 1999
17
p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. 71
9774969 1998
18
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 9 38
19681128 2009
19
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). 9 38
19676060 2009
20
Hay-Wells syndrome in a child with mutation in the TP73L gene. 9 38
17910675 2007
21
Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. 9 38
16532463 2006
22
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. 9 38
16319531 2006
23
Rapp-Hodgkin syndrome and the tail of p63. 9 38
15725251 2005
24
P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. 9 38
12692135 2003
25
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. 9 38
11929852 2002
26
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. 38
31420900 2019
27
Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders. 38
31050217 2019
28
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders. 38
29956718 2019
29
Expanding the genetic profile of Hay-Wells syndrome. 38
29329681 2018
30
A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene. 38
29140732 2018
31
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report. 38
29523099 2018
32
Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome. 38
29339502 2018
33
Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome. 38
29440852 2018
34
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia. 38
28513979 2017
35
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome. 38
28230601 2017
36
A rare variant of ankyloblepharon filiforme adnatum associated with skin hypopigmentation: A case report from South India. 38
27146940 2016
37
[Hay-Wells syndrome: A case report]. 38
26724982 2016
38
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis. 38
25387952 2015
39
Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene. 38
26470833 2015
40
Modeling AEC-New approaches to study rare genetic disorders. 38
24665072 2014
41
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case with a novel p63 mutation associated with abnormal keratohyalin granules. 38
24898013 2014
42
Syndrome in question. Hay-Wells syndrome. 38
24770526 2014
43
Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases. 38
24460201 2014
44
Renal failure in Hay-Wells syndrome. 38
24231488 2013
45
Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. 38
23610050 2013
46
Ectodermal dysplasias: the p63 tail. 38
23407076 2013
47
p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. 38
23108156 2013
48
Scalp erosion in ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC syndrome): treatment with acellular dermal matrix. 38
23348327 2013
49
Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome. 38
22759387 2012
50
A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis. 38
22740388 2012

Variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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

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

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

74
# Symbol AA change Variation ID SNP ID
1 TP63 p.Leu553Phe VAR_020879 rs121908842
2 TP63 p.Cys561Gly VAR_020881 rs121908843

Expression for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Search GEO for disease gene expression data 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:

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

Sources for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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