MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Cleft Lip (D002971)
Parent Node:
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Cleft Palate (D002972)
Parent Node:
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Ectodermal Dysplasia (D004476)
Parent Node:
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Eye Abnormalities (D005124)
..Starting node
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Hay-Wells syndrome (C535847)

       Child Nodes:



 Sister Nodes: 
..expandAblepharon macrostomia syndrome (C535557)
..expandAniridia (D015783) Child10
..expandAnkyloblepharon filiforme adnatum (C536373)
..expandAnophthalmos (D000853) Child8
..expandAnterior segment mesenchymal dysgenesis (C537775)
..expandAsymmetric Short Stature Syndrome (C566248)
..expandAxenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandAxenfeld-Rieger syndrome (C535679) Child3
..expandBASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
..expandBlepharophimosis (D016569) Child17
..expandBlue diaper syndrome (C536239)
..expandBrachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..expandBrittle cornea syndrome 1 (C536192)
..expandChemke Oliver Mallek syndrome (C535922)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandCODAS syndrome (C536434)
..expandCole Carpenter syndrome (C535963)
..expandColoboma (D003103) Child43
..expandCraniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
..expandCryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
..expandDESANTO-SHINAWI SYNDROME (OMIM:616708)
..expandDwarfism stiff joint ocular abnormalities (C535724)
..expandEctopia Lentis (D004479) Child13
..expandFACES syndrome (C536384)
..expandFoveal Hypoplasia and Anterior Segment Dysgenesis (C563774)
..expandFraser Syndrome (D058497)
..expandFronto-facio-nasal dysplasia (C538063)
..expandFrontoocular Syndrome (C565340)
..expandGoniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
..expandHay-Wells syndrome (C535847)
..expandHydrophthalmos (D006871)
..expandIridogoniodysgenesis and skeletal anomalies (C535534)
..expandIridogoniodysgenesis type1 (C535535)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandJejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..expandJoubert syndrome 1 (C536293)
..expandJoubert syndrome 2 (C536294)
..expandJoubert Syndrome 9 (C567364)
..expandKapur Toriello syndrome (C537008)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandMacrophthalmia, Colobomatous, with Microcornea (C566533)
..expandMaxillofacial Dysostosis (C563599)
..expandMesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..expandMicrocornea, glaucoma, and absent frontal sinuses (C537552)
..expandMicrophthalmos (D008850) Child57
..expandMOMES Syndrome (C564660)
..expandNephrotic syndrome ocular anomalies (C536403)
..expandNephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
..expandNEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
..expandOculoauricular Syndrome (C567416)
..expandOculoauriculofrontonasal syndrome (C537865)
..expandOculocerebrocutaneous syndrome (C538088)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculomaxillofacial dysostosis (C537736)
..expandOculopalatocerebral Syndrome (C564935)
..expandOculopalatoskeletal syndrome (C537738)
..expandOculorenocerebellar syndrome (C537739)
..expandPena Shokeir syndrome Type 2 (C536646)
..expandPersistent Hyperplastic Primary Vitreous (D054514)
..expandPersistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..expandPeters anomaly (C537884)
..expandPHACE association (C537892)
..expandPierson syndrome (C537185)
..expandPopliteal Pterygium Syndrome (C562509)
..expandPopliteal Pterygium Syndrome, Lethal Type (C564874)
..expandPrepapillary Vascular Loops (C563287)
..expandPupil, Egg-Shaped (C566731)
..expandPupillary Membrane, Persistence Of (C562700)
..expandRetinal Dysplasia (D015792) Child2
..expandRieger syndrome 2 (C535680)
..expandRozin Hertz Goodman syndrome (C535876)
..expandSchmid-Fraccaro syndrome (C535918)
..expandTorsion dystonia with onset in infancy (C536969)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5374
Name:Hay-Wells syndrome
Definition:
Alternative IDs:OMIM:106260
ParentIDs:MESH:D002971|MESH:D002972|MESH:D004476|MESH:D005124
TreeNumbers:C05.500.460.185/C535847 |C05.660.207.540.460.185/C535847 |C07.320.440.185/C535847 |C07.465.409.225/C535847 |C07.465.525.164/C535847 |C07.465.525.185/C535847 |C07.650.500.460.185/C535847 |C07.650.525.164/C535847 |C07.650.525.185/C535847 |C11.250/C535847 |C16.131.07
Synonyms:AEC |AEC SYNDROME |Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome |Ankyloblepharon-Ectodermal Defects-Cleft Lip-Cleft Palate |ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE |HAY-WELLS SYNDROME |Hay Wells Syndrome Dominant Form
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease
Reference: MedGen: C535847
MeSH: C535847
OMIM: 106260;
MSeqDR LSDB:  
Genes: TP63;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:00046912-3 toe syndactyly
3 HP:0000707Abnormality of the nervous system
NAMDC:  Neurological
4 HP:0000561Absent eyelashes
5 HP:0000970Anhidrosis
6 HP:0009755Ankyloblepharon
7 HP:0001798Anonychia
8 HP:0000413Atresia of the external auditory canal
9 HP:0000498Blepharitis
10 HP:0000175Cleft palate
11 HP:0000204Cleft upper lip
12 HP:0000405Conductive hearing impairment
13 HP:0000698Conical tooth
14 HP:0000509Conjunctivitis
15 HP:0001795Hyperconvex nail
16 HP:0000953Hyperpigmentation of the skin
17 HP:0000668Hypodontia
18 HP:0000327Hypoplasia of the maxilla
19 HP:0000047Hypospadias
20 HP:0000564Lacrimal duct atresia
21 HP:0000054Micropenis
22 HP:0008404Nail dystrophy
23 HP:0000300Oval face
24 HP:0000982Palmoplantar keratoderma
25 HP:0002232Patchy alopecia
26 HP:0001643Patent ductus arteriosus
27 HP:0001592Selective tooth agenesis
28 HP:0002231Sparse body hair
29 HP:0000653Sparse eyelashes
30 HP:0002558Supernumerary nipple
31 HP:0031088Vaginal dryness
32 HP:0001629Ventricular septal defect
33 HP:0000431Wide nasal bridge
34 HP:0000687Widely spaced teeth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr)8626TP63Pathogenicrs121908845RCV000006918|RCV000006919; NMONDO:MONDO:0007124,MedGen:C0406709,OMIM:106260, Orphanet:1071|MONDO:MONDO:0007508,MedGen:C1785148,OMIM:129400, Orphanet:30223189607267189607267TC3:g.189607267T>CClinGen:CA118342,UniProtKB:Q9H3D4#VAR_035128,OMIM:603273.0018C0406709 106260 Hay-Wells syndrome of ectodermal dysplasia;
NM_003722.5(TP63):c.1659A>T (p.Leu553Phe)8626TP63Pathogenicrs121908842RCV000006909; NMONDO:MONDO:0007124,MedGen:C0406709,OMIM:106260, Orphanet:10713189608584189608584AT3:g.189608584A>TClinGen:CA253874,UniProtKB:Q9H3D4#VAR_020879,OMIM:603273.0009C0406709 106260 Hay-Wells syndrome of ectodermal dysplasia;
NM_003722.5(TP63):c.1681T>G (p.Cys561Gly)8626TP63Likely pathogenicrs121908843RCV000006910|RCV001067605; NMONDO:MONDO:0007124,MedGen:C0406709,OMIM:106260, Orphanet:1071|MedGen:CN2393053189608606189608606TG3:g.189608606T>GClinGen:CA253875,UniProtKB:Q9H3D4#VAR_020881,OMIM:603273.0010C0406709 106260 Hay-Wells syndrome of ectodermal dysplasia;
MSeqDR Portal