AEC
MCID: ANK017
MIFTS: 50

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

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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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 57 73 38
Hay-Wells Syndrome 57 11 19 42 58 75 73 12
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome 11 19 42 58 28 5 14
Aec Syndrome 57 11 19 42 58 73 53
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome 11 42 75
Seres-Santamaria Arimany Muniz Syndrome 19 71
Aec 57 73
Cleft Palate, Ankyloblepharon, Alveolar Synechiae, and Ectodermal Defects 19
Ankyloblepharon Ectodermal Defects Cleft Lip/palate 19
Ankyloblepharon-Ectodermal Defect-Cleft Lip/palate 73
Rapp-Hodgkin Syndrome 71

Characteristics:


Inheritance:

Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate: Autosomal dominant 57
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome: Autosomal dominant 58

Age Of Onset:

Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to eec3 , shfm4 , adult syndrome , limb-mammary syndrome , and rapp-hodgkin syndrome


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

MedlinePlus Genetics: 42 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 180 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, eyes, ears, and sweat glands.Among the most common features of AEC syndrome are missing patches of skin (erosion). In affected infants, skin erosion most commonly occurs on the scalp. It tends to recur throughout childhood and into adulthood, frequently affecting the scalp, neck, hands, and feet. Skin erosion ranges from mild to severe and can lead to life-threatening infection in infancy, 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 may also have an inability to control their body temperature because of missing or nonfunctioning sweat glands causing overheating or hypothermia. 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 cleft lip/palate and cleft lip, and has symptoms including pachyonychia An important gene associated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate is TP63 (Tumor Protein P63), and among its related pathways/superpathways are Keratinization and Head and neck squamous cell carcinoma. Affiliated tissues include skin, eye and bone, and related phenotypes are wide nasal bridge and coarse hair

GARD: 19 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 genetic changes 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 genetic changes in the same part of the TP63 gene. Rapp-Hodgkin syndrome and AEC syndrome are considered to be part of the same disease spectrum.

OMIM®: 57 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC) is an autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon, and cleft lip and/or palate (summary by McGrath et al., 2001). (106260) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 An ectodermal dysplasia that is characterized by 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.

Orphanet: 58 An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.

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

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 107)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate 31.9 TP63 IRF6
2 cleft lip 31.3 TP63 IRF6 GRHL3 FGFR2
3 rapp-hodgkin syndrome 30.8 TP63 DLX5 BHLHA9
4 split-hand/foot malformation 1 30.7 TP63 FGFR2 DLX5
5 isolated split hand-split foot malformation 30.5 TP63 DLX6 DLX5
6 split hand-foot malformation 30.1 TP63 DLX6 DLX5 BHLHA9
7 cleft palate, isolated 29.9 TP63 IRF6 GRHL3 FRAS1 FGFR2 DLX6
8 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 29.9 TP63 IRF6 DLX6 DLX5
9 tooth agenesis 29.8 TP63 IRF6 GRHL3 FGFR2 DLX6 DLX5
10 alopecia 29.8 TP63 PERP KRT83
11 chromosome 2q35 duplication syndrome 29.6 TP63 IRF6 FRAS1 FGFR2 DLX6 DLX5
12 ectodermal dysplasia 10.8
13 wells syndrome 10.8
14 tp63-related disorders 10.7
15 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
16 ankyloblepharon filiforme adnatum and cleft palate 10.5
17 otitis media 10.4
18 uncombable hair syndrome 1 10.4
19 pili torti, early-onset 10.4
20 choanal atresia, posterior 10.4
21 nail disorder, nonsyndromic congenital, 9 10.4
22 hypospadias 10.4
23 anhidrosis 10.4
24 dental caries 10.4
25 skin disease 10.4
26 otitis externa 10.4
27 orofacial clefting syndrome 10.4
28 cleft lip and alveolus 10.2 TP63 IRF6
29 isolated cleft lip 10.2 TP63 IRF6
30 fissured tongue 10.2 TP63 IRF6
31 ankyloglossia with or without tooth anomalies 10.1 TP63 IRF6
32 orofacial cleft 4 10.1 TP63 DLX6
33 nail disorder, nonsyndromic congenital, 1 10.1
34 wilms tumor 1 10.1
35 cleft lip/palate-ectodermal dysplasia syndrome 10.1
36 pseudovaginal perineoscrotal hypospadias 10.1
37 wilms tumor 5 10.1
38 focal segmental glomerulosclerosis 10.1
39 urethral stricture 10.1
40 epidermolysis bullosa 10.1
41 kidney disease 10.1
42 end stage renal disease 10.1
43 bustos simosa pinto cisternas syndrome 10.1
44 penis agenesis 10.1
45 inherited epidermolysis bullosa 10.1
46 van der woude syndrome 1 10.1 IRF6 GRHL3
47 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.1
48 split-hand/foot malformation 6 10.0 DLX6 DLX5
49 glass syndrome 10.0 IRF6 DLX6
50 trichodentoosseous syndrome 10.0 DLX6 DLX5

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:

58 30 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000431
2 coarse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002208
3 hypohidrosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000966
4 hyperconvex fingernails 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001812
5 conductive hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000405
6 ankyloblepharon 58 30 Very rare (1%) Very frequent (99-80%)
HP:0009755
7 non-midline cleft lip 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100335
8 dystrophic toenail 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001810
9 dystrophic fingernails 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008391
10 widely spaced teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000687
11 palmoplantar keratoderma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000982
12 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
13 hypodontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000668
14 generalized hyperpigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007440
15 submucous cleft hard palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000176
16 sparse eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0045075
17 sparse eyelashes 58 30 Frequent (33%) Frequent (79-30%)
HP:0000653
18 conical tooth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000698
19 submucous cleft soft palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0011819
20 abnormal dental enamel morphology 30 Frequent (33%) HP:0000682
21 clinodactyly of the 5th finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004209
22 delayed eruption of teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000684
23 protruding ear 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000411
24 abnormality of the voice 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001608
25 ventricular septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001629
26 finger syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006101
27 supernumerary nipple 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002558
28 absent lacrimal punctum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001092
29 cleft upper lip 30 Very rare (1%) HP:0000204
30 hypospadias 30 Very rare (1%) HP:0000047
31 nasogastric tube feeding in infancy 30 Very rare (1%) HP:0011470
32 bilateral choanal atresia 30 Very rare (1%) HP:0004502
33 lacrimal duct atresia 30 Very rare (1%) HP:0000564
34 ectodermal dysplasia 30 Very rare (1%) HP:0000968
35 hyperconvex nail 58 30 Very frequent (99-80%)
HP:0001795
36 cleft palate 58 Frequent (79-30%)
37 hypotrichosis 58 Very frequent (99-80%)
38 micropenis 30 HP:0000054
39 patent ductus arteriosus 30 HP:0001643
40 abnormality of dental enamel 58 Frequent (79-30%)
41 conjunctivitis 30 HP:0000509
42 blepharitis 30 HP:0000498
43 sparse body hair 30 HP:0002231
44 abnormality of the nervous system 30 HP:0000707
45 hypoplasia of the maxilla 30 HP:0000327
46 atresia of the external auditory canal 30 HP:0000413
47 absent eyelashes 30 HP:0000561
48 nail dystrophy 30 HP:0008404
49 anonychia 30 HP:0001798
50 2-3 toe syndactyly 30 HP:0004691

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Teeth:
widely spaced teeth
hypodontia
selective tooth agenesis
conical teeth

Head And Neck Mouth:
cleft palate
cleft lip

Cardiovascular Vascular:
patent ductus arteriosus

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

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

Skin Nails Hair Skin:
hyperkeratosis
hyperpigmentation
scalp erosions
red, cracking, peeling skin at birth
palmar and plantar keratoderma
more
Genitourinary External Genitalia Male:
micropenis
hypospadias

Cardiovascular Heart:
ventricular septal defect

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 (Updated 08-Dec-2022)

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


pachyonychia

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 10.06 BHLHA9 DLX5 DLX6 FGFR2 FRAS1 GRHL3
2 embryo MP:0005380 9.97 DLX5 DLX6 FGFR2 GRHL3 HNRNPAB IRF6
3 digestive/alimentary MP:0005381 9.92 DLX5 DLX6 FGFR2 FRAS1 GRHL3 IRF6
4 cellular MP:0005384 9.9 BHLHA9 DLX5 FGFR2 FRAS1 GRHL3 HNRNPAB
5 craniofacial MP:0005382 9.86 DLX5 DLX6 FGFR2 FRAS1 GRHL3 IRF6
6 mortality/aging MP:0010768 9.7 DLX5 DLX6 FGFR2 FRAS1 GRHL3 HNRNPAB
7 integument MP:0010771 9.32 DLX5 DLX6 FGFR2 FRAS1 GRHL3 IRF6

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

Genetic tests related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

# Genetic test Affiliating Genes
1 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome 28 TP63

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

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

MalaCards : Skin, Eye, Bone, Tongue

Publications for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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

(show top 50) (show all 125)
# Title Authors PMID Year
1
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. 53 62 57 5
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. 62 57 5
19239083 2008
3
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. 62 57 5
15200513 2004
4
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. 62 57 5
10886756 2000
5
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. 53 62 57
19676059 2009
6
Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 53 62 57
19697429 2009
7
Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 62 57
19697430 2009
8
International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. 62 57
19353643 2009
9
DeltaNp63 knockdown mice: A mouse model for AEC syndrome. 62 57
19681108 2009
10
Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis. 62 5
19353588 2009
11
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. 53 57
14684701 2003
12
Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome? 62 57
8411079 1993
13
Ankyloblepharon filiforme adnatum. 62 57
1536181 1992
14
Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome. 62 57
3605196 1987
15
AEC syndrome: ankyloblepharon, ectodermal defects, and cleft lip and palate. Report of two cases. 62 57
3839246 1985
16
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. 57
10535733 1999
17
p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. 5
9774969 1998
18
The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition. 57
946410 1976
19
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 53 62
19681128 2009
20
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). 53 62
19676060 2009
21
AEC syndrome caused by a novel p63 mutation and demonstrating erythroderma followed by extensive depigmentation. 53 62
19840326 2009
22
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. 53 62
18603493 2008
23
Hay-Wells syndrome in a child with mutation in the TP73L gene. 53 62
17910675 2007
24
Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. 53 62
16532463 2006
25
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. 53 62
16319531 2006
26
NMR structure of the p63 SAM domain and dynamical properties of G534V and T537P pathological mutants, identified in the AEC syndrome. 53 62
16679535 2006
27
Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype. 53 62
16365259 2005
28
Regulation of the cyclin-dependent kinase inhibitor p57Kip2 expression by p63. 53 62
16258268 2005
29
Rapp-Hodgkin syndrome and the tail of p63. 53 62
15725251 2005
30
Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes. 53 62
15347331 2004
31
A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon. 53 62
12932250 2003
32
P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. 53 62
12692135 2003
33
Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. 53 62
12766194 2003
34
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. 53 62
11929852 2002
35
A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia. 62
35595744 2022
36
TP63-related disorders: two case reports and a brief review of the literature. 62
35130400 2021
37
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up. 62
34583755 2021
38
Pili Torti: A Feature of Numerous Congenital and Acquired Conditions. 62
34501349 2021
39
Isoform-Specific Roles of Mutant p63 in Human Diseases. 62
33572532 2021
40
Ankyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the TP63 Gene. 62
32953416 2020
41
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. 62
31420900 2019
42
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. 62
31050217 2019
43
Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work. 62
30809829 2019
44
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders. 62
29956718 2019
45
Expanding the genetic profile of Hay-Wells syndrome. 62
29329681 2018
46
A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene. 62
29140732 2018
47
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report. 62
29523099 2018
48
Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome. 62
29440852 2018
49
Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome. 62
29339502 2018
50
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia. 62
28513979 2017

Variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP63 NM_003722.5(TP63):c.1659A>T (p.Leu553Phe) SNV Pathogenic
6535 rs121908842 GRCh37: 3:189608584-189608584
GRCh38: 3:189890795-189890795
2 TP63 NM_003722.5(TP63):c.1681T>G (p.Cys561Gly) SNV Pathogenic
6536 rs121908843 GRCh37: 3:189608606-189608606
GRCh38: 3:189890817-189890817
3 TP63 NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) SNV Pathogenic
6544 rs121908845 GRCh37: 3:189607267-189607267
GRCh38: 3:189889478-189889478
4 TP63 NM_003722.5:c.1833_1843dup DUP Pathogenic
6553 GRCh37:
GRCh38:

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

73
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.1 PKP1 PERP LCE5A KRT83
2 11 TP63 IRF6 FGFR2
3 10.6 TP63 PERP DLX6 DLX5
4
Show member pathways
10.11 TP63 IRF6

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

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

# Name GO ID Score Top Affiliating Genes
1 messenger ribonucleoprotein complex GO:1990124 8.92 PKP1 HNRNPAB

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of epithelial cell proliferation GO:0050679 9.93 FGFR2 DLX6 DLX5
2 inner ear morphogenesis GO:0042472 9.88 FGFR2 DLX6 DLX5
3 epithelial cell differentiation GO:0030855 9.87 DLX5 DLX6 FGFR2 TP63
4 epidermis development GO:0008544 9.85 TP63 LCE5A KRT83 GRHL3
5 establishment of planar polarity GO:0001736 9.8 TP63 GRHL3
6 cranial skeletal system development GO:1904888 9.78 TP63 IRF6
7 roof of mouth development GO:0060021 9.76 IRF6 FRAS1 DLX6 DLX5
8 head development GO:0060322 9.69 DLX6 DLX5
9 squamous basal epithelial stem cell differentiation involved in prostate gland acinus development GO:0060529 9.56 TP63 FGFR2
10 embryo development GO:0009790 9.43 DLX6 DLX5
11 anatomical structure formation involved in morphogenesis GO:0048646 9.35 TP63 DLX6 DLX5
12 embryonic limb morphogenesis GO:0030326 9.17 TP63 FRAS1 DLX6 DLX5

Sources for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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