AEC
MCID: ANK017
MIFTS: 47

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 56 73 39
Hay-Wells Syndrome 56 12 74 52 25 58 73 13
Aec Syndrome 56 12 52 25 58 73 54
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome 12 52 25 58 15
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome 12 25
Aec 56 73
Ankyloblepharon-Ectodermal Defects, Cleft Lip/palate 6
Ankyloblepharon Ectodermal Defects Cleft Lip/palate 52
Ankyloblepharon-Ectodermal Defect-Cleft Lip/palate 73
Rapp-Hodgkin Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
ankyloblepharon-ectodermal defects-cleft lip/palate:
Inheritance autosomal dominant inheritance


Classifications:

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


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 split-hand/foot malformation 1, 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 is Hypothetical Craniofacial Development Pathway. Affiliated tissues include skin, eye and bone, and related phenotypes are wide nasal bridge and coarse hair

Disease Ontology : 12 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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 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 80)
# Related Disease Score Top Affiliating Genes
1 wells syndrome 31.2 TP63 SCAF4 HNRNPAB FGFR2
2 split-hand/foot malformation 1 31.1 TP63 DLX5
3 isolated split hand-split foot malformation 30.5 TP63 DLX6 DLX5
4 cleft palate, isolated 29.8 TP63 IRF6 FRAS1 FGFR2 DLX6 DLX5
5 chromosome 2q35 duplication syndrome 29.6 TP63 IRF6 FRAS1 FGFR2 DLX6 DLX5
6 split hand-foot malformation 29.5 TP63 DLX6 DLX5
7 rapp-hodgkin syndrome 29.1 TP63 RIPK4 IRF6 HNRNPAB DYNC1I1 DLX6
8 cleft lip 11.1
9 cleft lip/palate 11.1
10 ectodermal dysplasia 11.0
11 tp63-related disorders 10.9
12 hair whorl 10.5
13 otitis media 10.5
14 choanal atresia, posterior 10.5
15 autosomal genetic disease 10.5
16 hypospadias 10.5
17 dental caries 10.5
18 skin disease 10.5
19 hard palate cancer 10.5
20 otitis externa 10.5
21 pili torti 10.5
22 orofacial clefting syndrome 10.5
23 cleft lip and alveolus 10.3 TP63 IRF6
24 isolated cleft lip 10.2 TP63 IRF6
25 dacryocystocele 10.2 FRAS1 FGFR2
26 exstrophy of bladder 10.1 TP63 PERP
27 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.1
28 chand syndrome 10.1
29 anhidrosis 10.1
30 orofacial cleft 4 10.1 TP63 DLX6
31 bartsocas-papas syndrome 10.1 TP63 RIPK4 IRF6
32 fetal encasement syndrome 10.1 RIPK4 IRF6
33 wilms tumor 1 10.0
34 wilms tumor 5 10.0
35 focal segmental glomerulosclerosis 10.0
36 urethral stricture 10.0
37 epidermolysis bullosa 10.0
38 kidney disease 10.0
39 end stage renal failure 10.0
40 syngnathia 10.0 IRF6 DLX6
41 synostosis 10.0 RIPK4 FRAS1 FGFR2
42 adult syndrome 10.0
43 gastroesophageal reflux 10.0
44 taurodontism 10.0
45 ataxia and polyneuropathy, adult-onset 10.0
46 limb-mammary syndrome 10.0
47 polydactyly 10.0
48 body mass index quantitative trait locus 1 10.0
49 sarcoma 10.0
50 mycoplasma pneumoniae pneumonia 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:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
2 coarse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002208
3 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
4 hyperconvex fingernails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001812
5 non-midline cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0100335
6 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
7 hypotrichosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001006
8 ankyloblepharon 58 31 hallmark (90%) Very frequent (99-80%) HP:0009755
9 dystrophic toenail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001810
10 dystrophic fingernails 58 31 hallmark (90%) Very frequent (99-80%) HP:0008391
11 widely spaced teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000687
12 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
13 palmoplantar keratoderma 58 31 frequent (33%) Frequent (79-30%) HP:0000982
14 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
15 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
16 generalized hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007440
17 submucous cleft soft palate 58 31 frequent (33%) Frequent (79-30%) HP:0011819
18 submucous cleft hard palate 58 31 frequent (33%) Frequent (79-30%) HP:0000176
19 sparse eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000653
20 conical tooth 58 31 frequent (33%) Frequent (79-30%) HP:0000698
21 sparse and thin eyebrow 31 frequent (33%) HP:0000535
22 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
23 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
24 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
25 delayed eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000684
26 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
27 abnormality of the voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001608
28 supernumerary nipple 58 31 occasional (7.5%) Occasional (29-5%) HP:0002558
29 absent lacrimal punctum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001092
30 cleft palate 58 31 Frequent (79-30%) HP:0000175
31 hyperconvex nail 58 31 Very frequent (99-80%) HP:0001795
32 abnormality of the nervous system 31 HP:0000707
33 absent eyelashes 31 HP:0000561
34 nail dystrophy 31 HP:0008404
35 patent ductus arteriosus 31 HP:0001643
36 blepharitis 31 HP:0000498
37 hypospadias 31 HP:0000047
38 micropenis 31 HP:0000054
39 2-3 toe syndactyly 31 HP:0004691
40 hypoplasia of the maxilla 31 HP:0000327
41 cleft upper lip 31 HP:0000204
42 anonychia 31 HP:0001798
43 conjunctivitis 31 HP:0000509
44 sparse body hair 31 HP:0002231
45 atresia of the external auditory canal 31 HP:0000413
46 anhidrosis 31 HP:0000970
47 hyperpigmentation of the skin 31 HP:0000953
48 sparse eyebrow 58 Frequent (79-30%)
49 lacrimal duct atresia 31 HP:0000564
50 selective tooth agenesis 31 HP:0001592

Symptoms via clinical synopsis from OMIM:

56
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

Genitourinary External Genitalia Male:
hypospadias
micropenis

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

Cardiovascular Heart:
ventricular septal defect

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

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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.87 DLX5 DLX6 FGFR2 FRAS1 IRF6 RIPK4
2 digestive/alimentary MP:0005381 9.8 DLX5 DLX6 FGFR2 FRAS1 IRF6 RIPK4
3 integument MP:0010771 9.76 DLX5 DLX6 FGFR2 FRAS1 IRF6 PERP
4 limbs/digits/tail MP:0005371 9.5 DLX5 DLX6 FGFR2 FRAS1 IRF6 RIPK4
5 respiratory system MP:0005388 9.1 DLX5 DLX6 FGFR2 FRAS1 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:

40
Skin, Eye, Bone, Spinal Cord, Kidney, Thyroid

Publications for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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

(show top 50) (show all 88)
# Title Authors PMID Year
1
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. 54 61 56 6
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. 56 6
19239083 2008
3
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. 56 6
15200513 2004
4
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. 56 6
10886756 2000
5
Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 54 61 56
19697429 2009
6
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. 54 61 56
19676059 2009
7
TP63-Related Disorders 61 6
20556892 2010
8
Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis. 61 6
19353588 2009
9
International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. 61 56
19353643 2009
10
Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 61 56
19697430 2009
11
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. 54 56
14684701 2003
12
Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome? 61 56
8411079 1993
13
Ankyloblepharon filiforme adnatum. 61 56
1536181 1992
14
Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome. 61 56
3605196 1987
15
DeltaNp63 knockdown mice: A mouse model for AEC syndrome. 56
19681108 2009
16
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. 56
10535733 1999
17
p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. 6
9774969 1998
18
The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition. 56
946410 1976
19
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 54 61
19681128 2009
20
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). 54 61
19676060 2009
21
Hay-Wells syndrome in a child with mutation in the TP73L gene. 54 61
17910675 2007
22
Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. 54 61
16532463 2006
23
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. 54 61
16319531 2006
24
Rapp-Hodgkin syndrome and the tail of p63. 54 61
15725251 2005
25
P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. 54 61
12692135 2003
26
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. 54 61
11929852 2002
27
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. 61
31420900 2019
28
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. 61
31050217 2019
29
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders. 61
29956718 2019
30
Expanding the genetic profile of Hay-Wells syndrome. 61
29329681 2018
31
A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene. 61
29140732 2018
32
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report. 61
29523099 2018
33
Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome. 61
29339502 2018
34
Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome. 61
29440852 2018
35
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia. 61
28513979 2017
36
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome. 61
28230601 2017
37
A rare variant of ankyloblepharon filiforme adnatum associated with skin hypopigmentation: A case report from South India. 61
27146940 2016
38
[Hay-Wells syndrome: A case report]. 61
26724982 2016
39
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis. 61
25387952 2015
40
Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene. 61
26470833 2015
41
Modeling AEC-New approaches to study rare genetic disorders. 61
24665072 2014
42
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case with a novel p63 mutation associated with abnormal keratohyalin granules. 61
24898013 2014
43
Syndrome in question. Hay-Wells syndrome. 61
24770526 2014
44
Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases. 61
24460201 2014
45
Renal failure in Hay-Wells syndrome. 61
24231488 2013
46
Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. 61
23610050 2013
47
Ectodermal dysplasias: the p63 tail. 61
23407076 2013
48
p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. 61
23108156 2013
49
Scalp erosion in ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC syndrome): treatment with acellular dermal matrix. 61
23348327 2013
50
Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome. 61
22759387 2012

Variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TP63 NM_003722.5(TP63):c.1659A>T (p.Leu553Phe)SNV Pathogenic 6535 rs121908842 3:189608584-189608584 3:189890795-189890795
2 TP63 NM_003722.5(TP63):c.1681T>G (p.Cys561Gly)SNV Pathogenic 6536 rs121908843 3:189608606-189608606 3:189890817-189890817
3 TP63 NM_003722.5(TP63):c.1646T>C (p.Ile549Thr)SNV Pathogenic 6544 rs121908845 3:189607267-189607267 3:189889478-189889478
4 TP63 TP63, 11-BP DUP, NT1716duplication Pathogenic 6553

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 9.53 TP63 IRF6

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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.67 TP63 DLX6 DLX5
2 inner ear morphogenesis GO:0042472 9.61 FGFR2 DLX6 DLX5
3 positive regulation of epithelial cell proliferation GO:0050679 9.58 FGFR2 DLX6 DLX5
4 bone morphogenesis GO:0060349 9.52 FGFR2 DLX5
5 hair follicle morphogenesis GO:0031069 9.51 TP63 FGFR2
6 morphogenesis of an epithelium GO:0002009 9.48 RIPK4 FRAS1
7 head development GO:0060322 9.46 DLX6 DLX5
8 epithelial cell differentiation GO:0030855 9.46 TP63 FGFR2 DLX6 DLX5
9 anatomical structure formation involved in morphogenesis GO:0048646 9.43 TP63 DLX6 DLX5
10 embryo development GO:0009790 9.37 DLX6 DLX5
11 squamous basal epithelial stem cell differentiation involved in prostate gland acinus development GO:0060529 9.32 TP63 FGFR2
12 roof of mouth development GO:0060021 9.26 IRF6 FRAS1 DLX6 DLX5
13 embryonic limb morphogenesis GO:0030326 8.92 TP63 FRAS1 DLX6 DLX5

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.35 TP63 IRF6 HNRNPAB DLX6 DLX5
2 sequence-specific DNA binding GO:0043565 9.02 TP63 IRF6 HNRNPAB DLX6 DLX5

Sources for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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