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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cleft Lip (D002971)
Parent Node: Cleft Palate (D002972)
Parent Node: Ectodermal Dysplasia (D004476)
Parent Node: Eye Abnormalities (D005124)
..Starting node ..Hay-Wells syndrome (C535847)
Child Nodes:
Sister Nodes:
..Ablepharon macrostomia syndrome (C535557)
..Aniridia (D015783) 10
..Ankyloblepharon filiforme adnatum cleft palate (C536373)
..Anophthalmos (D000853) 8
..Anterior segment mesenchymal dysgenesis (C537775)
..Asymmetric Short Stature Syndrome (C566248)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..Axenfeld-Rieger syndrome (C535679) 3
..Blepharophimosis (D016569) 17
..Blue diaper syndrome (C536239)
..Brachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..Chemke Oliver Mallek syndrome (C535922)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..CODAS syndrome (C536434)
..Cole Carpenter syndrome (C535963)
..Coloboma (D003103) 43
..Craniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
..Cryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
..Dwarfism stiff joint ocular abnormalities (C535724)
..Ectopia Lentis (D004479) 13
..FACES syndrome (C536384)
..Foveal Hypoplasia and Anterior Segment Dysgenesis (C563774)
..Fraser Syndrome (D058497)
..Fronto-facio-nasal dysplasia (C538063)
..Frontoocular Syndrome (C565340)
..Goniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
..Hay-Wells syndrome (C535847)
..Hydrophthalmos (D006871)
..Iridogoniodysgenesis and skeletal anomalies (C535534)
..Iridogoniodysgenesis type1 (C535535)
..Iridogoniodysgenesis, dominant type (C535536)
..Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..Joubert syndrome 1 (C536293)
..Joubert syndrome 2 (C536294)
..Joubert Syndrome 9 (C567364)
..Kapur Toriello syndrome (C537008)
..Kaufman oculocerebrofacial syndrome (C537013)
..Macrophthalmia, Colobomatous, with Microcornea (C566533)
..Maxillofacial Dysostosis (C563599)
..Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..Microcornea, glaucoma, and absent frontal sinuses (C537552)
..Microphthalmos (D008850) 57
..MOMES Syndrome (C564660)
..Nephrotic syndrome ocular anomalies (C536403)
..Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
..Oculoauricular Syndrome (C567416)
..Oculoauriculofrontonasal syndrome (C537865)
..Oculocerebrocutaneous syndrome (C538088)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculomaxillofacial dysostosis (C537736)
..Oculopalatocerebral Syndrome (C564935)
..Oculopalatoskeletal syndrome (C537738)
..Oculorenocerebellar syndrome (C537739)
..Pena Shokeir syndrome Type 2 (C536646)
..Persistent Hyperplastic Primary Vitreous (D054514)
..Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..Peters anomaly (C537884)
..PHACE association (C537892)
..Pierson syndrome (C537185)
..Popliteal Pterygium Syndrome (C562509)
..Popliteal Pterygium Syndrome, Lethal Type (C564874)
..Prepapillary Vascular Loops (C563287)
..Pupil, Egg-Shaped (C566731)
..Pupillary Membrane, Persistence Of (C562700)
..Retinal Dysplasia (D015792) 2
..Rieger syndrome 2 (C535680)
..Rozin Hertz Goodman syndrome (C535876)
..Torsion dystonia with onset in infancy (C536969)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4910

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:

Slim Mappings:

Reference:

MedGen: C535847
MeSH: C535847
OMIM: 106260;

Genes: TP63;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004691	2-3 toe syndactyly
3	HP:0000707	Abnormality of the nervous system
4	HP:0000561	Absent eyelashes
5	HP:0000970	Anhidrosis
6	HP:0009755	Ankyloblepharon
7	HP:0001798	Anonychia
8	HP:0000413	Atresia of the external auditory canal
9	HP:0000498	Blepharitis
10	HP:0000175	Cleft palate
11	HP:0000204	Cleft upper lip
12	HP:0000405	Conductive hearing impairment
13	HP:0000698	Conical tooth
14	HP:0000509	Conjunctivitis
15	HP:0001795	Hyperconvex nail
16	HP:0000953	Hyperpigmentation of the skin
17	HP:0000668	Hypodontia
18	HP:0000327	Hypoplasia of the maxilla
19	HP:0000047	Hypospadias
20	HP:0000564	Lacrimal duct atresia
21	HP:0000054	Micropenis
22	HP:0008404	Nail dystrophy
23	HP:0000300	Oval face
24	HP:0000982	Palmoplantar keratoderma
25	HP:0002232	Patchy alopecia
26	HP:0001643	Patent ductus arteriosus
27	HP:0001592	Selective tooth agenesis
28	HP:0002231	Sparse body hair
29	HP:0000653	Sparse eyelashes
30	HP:0002558	Supernumerary nipple
31	HP:0031088	Vaginal dryness
32	HP:0001629	Ventricular septal defect
33	HP:0000431	Wide nasal bridge
34	HP:0000687	Widely spaced teeth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_003722.4(TP63):c.1646T>C (p.Ile549Thr)	8626	TP63	Pathogenic	121908845	RCV000006919; RCV000006918;	N	MedGen:C0406709,OMIM:106260,SNOMED CT:55821006; MedGen:C1785148,OMIM:129400,ORPHA:1071,SNOMED CT:7731005	3	189607267	189607267	NM_003722.4:c.1646T>C	NP_003713.3:p.Ile549Thr	NC_000003.11:g.189607267T>C	OMIM Allelic Variant:603273.0018	C0406709 106260 Hay-Wells syndrome of ectodermal dysplasia; C1785148 129400 Rapp-Hodgkin ectodermal dysplasia syndrome
NM_003722.4(TP63):c.1659A>T (p.Leu553Phe)	8626	TP63	Pathogenic	121908842	RCV000006909;	N	MedGen:C0406709,OMIM:106260,SNOMED CT:55821006	3	189608584	189608584	NM_003722.4:c.1659A>T	NP_003713.3:p.Leu553Phe	NC_000003.11:g.189608584A>T	OMIM Allelic Variant:603273.0009	C0406709 106260 Hay-Wells syndrome of ectodermal dysplasia
NM_003722.4(TP63):c.1681T>G (p.Cys561Gly)	8626	TP63	Pathogenic	121908843	RCV000006910;	N	MedGen:C0406709,OMIM:106260,SNOMED CT:55821006	3	189608606	189608606	NM_003722.4:c.1681T>G	NP_003713.3:p.Cys561Gly	NC_000003.11:g.189608606T>G	OMIM Allelic Variant:603273.0010	C0406709 106260 Hay-Wells syndrome of ectodermal dysplasia