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Hello! Guest! Please Login or Register! Clinician Mode

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: Foot Deformities, Congenital (D005532)
Parent Node: Hand Deformities, Congenital (D006228)
..Starting node ..Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 (C565799)
Child Nodes:
Sister Nodes:
..Aarskog Syndrome (C535331) 1
..Acheiropodia (C536014)
..Acrofacial dysostosis Rodriguez type (C538183)
..Acrofacial dysostosis, Palagonia type (C538185)
..Acrootoocular Syndrome (C564866)
..Acrorenal Syndrome (C563159)
..Adactylia, Unilateral (C562417)
..Anonychia-Ectrodactyly (C566277)
..Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges (C537766)
..Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV (C563942)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Banki Syndrome (C566228)
..BRACHYDACTYLY, TYPE E1 (OMIM:113300)
..BRACHYDACTYLY, TYPE E2 (OMIM:613382)
..Camptodactyly 1 (C567780)
..Camptodactyly joint contractures and facial skeletal dysplasia (C537969)
..Camptodactyly syndrome Guadalajara type 1 (C537970)
..Camptodactyly syndrome Guadalajara type 2 (C537971)
..Camptodactyly taurinuria (C537972)
..Camptodactyly vertebral fusion (C537973)
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Camptodactyly-ichthyosis syndrome (C537976)
..Camptosynpolydactyly, Complex (C564383)
..Carnevale Hernandez Castillo syndrome (C535585)
..Catel Manzke syndrome (C535347)
..CATSHL syndrome (C537975)
..Chitayat Meunier Hodgkinson syndrome (C535926)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Coffin-Siris syndrome (C536436)
..Cranioacrofacial Syndrome (C565147)
..Craniosynostosis, Adelaide Type (C563471)
..Crisponi syndrome (C536214)
..Daneman Davy Mancer syndrome (C535986)
..Deafness, congenital onychodystrophy, recessive form (C538204)
..Digitorenocerebral Syndrome (C563052)
..Digitotalar Dysmorphism (C565097)
..Dwarfism stiff joint ocular abnormalities (C535724)
..Dystelephalangy (C538000)
..Ectodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate (C565065)
..Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 (C565062)
..Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 (C565799)
..Ectrodactyly-Cleft Palate Syndrome (C565064)
..Eiken Skeletal Dysplasia (C564010)
..Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524)
..Fairbank disease (C536393)
..Femur bifid with monodactylous ectrodactyly (C537917)
..Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..Frints De Smet Fabry Fryns syndrome (C538062)
..Frontootopalatodigital Osteodysplasia (C567578)
..Fuhrmann syndrome (C538189)
..Goodman camptodactyly (C537287)
..Gordon syndrome (C537288)
..Growth mental deficiency syndrome of Myhre (C537620)
..Growth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..Hairy palms and soles (C535620)
..Hand foot uterus syndrome (C535627)
..Heart-hand syndrome, Slovenian type (C535852)
..Hecht Scott syndrome (C535856)
..Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate (C564484)
..Hydrolethalus syndrome (C536079)
..Jacobs syndrome (C537560)
..Johnson Munson syndrome (C535881)
..Keutel syndrome (C536167)
..Laurin-Sandrow syndrome (C535689)
..Leri pleonosteosis (C537118)
..Macrodactyly of the hand (C537720)
..MAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
..Metacarpal 4 5 Fusion (C564100)
..Metaphyseal acroscyphodysplasia (C537350)
..Michels Caskey syndrome (C537576)
..Microcephaly with Mental Retardation and Digital Anomalies (C567101)
..Mononen Karnes Senac syndrome (C535914)
..Morillo-Cucci Passarge syndrome (C536983)
..Muller Barth Menger syndrome (C537370)
..Neurofaciodigitorenal syndrome (C537388)
..NOG-Related-Symphalangism Spectrum Disorder (C536943)
..Oculootoradial syndrome (C535544)
..Odontotrichoungual-Digital-Palmar Syndrome (C566598)
..Oroacral Syndrome, Verloes-Koulischer Type (C566374)
..Oslam syndrome (C537138)
..Oto-Palato-digital syndrome type 1 (C536065)
..Oto-palato-digital syndrome, type 2 (C538089)
..Otopalatodigital Spectrum Disorder (C567577)
..Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies (C565782)
..Pfeiffer Tietze Welte syndrome (C537891)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Progeroid Facial Appearance with Hand Anomalies (C566563)
..Pseudotrisomy 13 syndrome (C535829)
..Pterygium colli mental retardation digital anomalies (C535831)
..Radio-ulnar synostosis type 1 (C536268)
..Radio-ulnar synostosis type 2 (C536269)
..Rhizomelic dysplasia Patterson Lowry type (C537609)
..Richieri Costa Guion-Almeida syndrome (C535676)
..Richieri Costa Pereira syndrome (C535677)
..Rozin Hertz Goodman syndrome (C535876)
..Saal Bulas syndrome (C537193)
..Sanderson Fraser syndrome (C537232)
..Say Field Coldwell syndrome (C536619)
..Schinzel-Giedion syndrome (C536632)
..Second Metatarsal-Metacarpal Syndrome (C564824)
..Split hand split foot nystagmus (C537319)
..Split-Hand/Foot Malformation With Sensorineural Hearing Loss (C565647)
..Spondylocamptodactyly (C535779)
..Stoll Alembik Dott syndrome (C537497)
..Symphalangism with Multiple Anomalies of Hands and Feet (C566098)
..Symphalangism, C. S. Lewis Type (C566100)
..Symphalangism, Distal (C566099) 1
..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..Synpolydactyly 2 (C564278)
..Tabatznik syndrome (C536784)
..Teebi Kaurah syndrome (C536948)
..Teebi syndrome (C536951)
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendons, Extensor, of Fingers, Anomalous Insertion of (C566068)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Tollner Horst Manzke syndrome (C536964)
..Trichorhinophalangeal Syndrome, Type III (C566033)
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..Triphalangeal Thumb (C573898)
..Triphalangeal thumb non opposable (C536562)
..Triphalangeal Thumb with Double Phalanges (C566028)
..Tukel syndrome (C536925)
..Van Maldergem Wetzburger Verloes syndrome (C536530)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
..Vohwinkel syndrome (C536457)
..Walbaum Titran Durieux Crepin syndrome (C536566)
..Weaver syndrome (C536687)
..Weaver-Like Syndrome (C562443)
..Weyers ulnar ray/oligodactyly syndrome (C536696)
..Zimmerman Laband syndrome (C536725)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3641

Name:

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3

Definition:

Alternative IDs:

OMIM:604292

ParentIDs:

MESH:D002971|MESH:D002972|MESH:D004476|MESH:D005532|MESH:D006228

TreeNumbers:

C05.330.495/C565799 |C05.390.408/C565799 |C05.500.460.185/C565799 |C05.660.207.540.460.185/C565799 |C05.660.585.512.380/C565799 |C05.660.585.988.425/C565799 |C07.320.440.185/C565799 |C07.465.409.225/C565799 |C07.465.525.164/C565799 |C07.465.525.185/C565799 |C07.65

Synonyms:

EEC3 |EEC Syndrome 3

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease

Reference:

MedGen: C565799
MeSH: C565799
OMIM: 604292;

Genes: TP63;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001739	Abnormal nasopharynx morphology
3	HP:0000198	Absence of Stensen duct
4	HP:0000015	Bladder diverticulum
5	HP:0000498	Blepharitis
6	HP:0000581	Blepharophimosis
7	HP:0000635	Blue irides
8	HP:0000670	Carious teeth
9	HP:0000863	Central diabetes insipidus
10	HP:0000453	Choanal atresia
11	HP:0000175	Cleft palate
12	HP:0000204	Cleft upper lip
13	HP:0000028	Cryptorchidism
14	HP:0000620	Dacryocystitis
15	HP:0000824	Decreased response to growth hormone stimulation test
16	HP:0000437	Depressed nasal tip
17	HP:0000081	Duplicated collecting system
18	HP:0000968	Ectodermal dysplasia
19	HP:0100257	Ectrodactyly
20	HP:0002286	Fair hair
21	HP:0007513	Generalized hypopigmentation
22	HP:0000365	Hearing impairment
23	HP:0000126	Hydronephrosis
24	HP:0000072	Hydroureter
25	HP:0000962	Hyperkeratosis
26	HP:0000044	Hypogonadotropic hypogonadism
27	HP:0000327	Hypoplasia of the maxilla
28	HP:0002557	Hypoplastic nipples
29	HP:0001249	Intellectual disability	HP:0040284
30	HP:0000272	Malar flattening
31	HP:0000691	Microdontia
32	HP:0000054	Micropenis
33	HP:0008551	Microtia
34	HP:0008404	Nail dystrophy
35	HP:0001803	Nail pits
36	HP:0000613	Photophobia
37	HP:0000104	Renal agenesis
38	HP:0000110	Renal dysplasia
39	HP:0001592	Selective tooth agenesis
40	HP:0000535	Sparse and thin eyebrow
41	HP:0002215	Sparse axillary hair
42	HP:0000653	Sparse eyelashes
43	HP:0002225	Sparse pubic hair
44	HP:0002209	Sparse scalp hair
45	HP:0001839	Split foot
46	HP:0001171	Split hand
47	HP:0001770	Toe syndactyly
48	HP:0000145	Transverse vaginal septum
49	HP:0000070	Ureterocele
50	HP:0000076	Vesicoureteral reflux
51	HP:0000217	Xerostomia

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.727C>T (p.Arg243Trp)	8626	TP63	Pathogenic	121908835	RCV000006900;	N	MedGen:C1858562,OMIM:604292	3	189582168	189582168	NM_003722.4:c.727C>T	NP_003713.3:p.Arg243Trp	NC_000003.11:g.189582168C>T	OMIM Allelic Variant:603273.0001	C1858562 604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
NM_003722.4(TP63):c.728G>A (p.Arg243Gln)	8626	TP63	Pathogenic	121908836	RCV000006901;	N	MedGen:C1858562,OMIM:604292	3	189582169	189582169	NM_003722.4:c.728G>A	NP_003713.3:p.Arg243Gln	NC_000003.11:g.189582169G>A	OMIM Allelic Variant:603273.0002	C1858562 604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
NM_001114978.1(TP63):c.740A>G (p.His247Arg)	8626	TP63	Pathogenic	864621968	RCV000206266;	N	MedGen:C1858562,OMIM:604292	3	189582181	189582181	NM_001114978.1:c.740A>G	NP_001108450.1:p.His247Arg	NC_000003.11:g.189582181A>G	-	C1858562 604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
NM_003722.4(TP63):c.797G>A (p.Arg266Gln)	8626	TP63	Pathogenic	121908849	RCV000006925; RCV000006926;	N	MedGen:C1858562,OMIM:604292; MedGen:C1863204,OMIM:103285,ORPHA:978	3	189584501	189584501	NM_003722.4:c.797G>A	NP_003713.3:p.Arg266Gln	NC_000003.11:g.189584501G>A	OMIM Allelic Variant:603273.0024	C1863204 103285 ADULT syndrome; C1858562 604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
NM_003722.4(TP63):c.953G>A (p.Arg318His)	8626	TP63	Pathogenic	121908840	RCV000006906; RCV000006907;	N	MedGen:C1785148,OMIM:129400,ORPHA:1071,SNOMED CT:7731005; MedGen:C1858562,OMIM:604292	3	189585692	189585692	NM_003722.4:c.953G>A	NP_003713.3:p.Arg318His	NC_000003.11:g.189585692G>A	OMIM Allelic Variant:603273.0007	C1858562 604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; C1785148 129400 Rapp-Hodgkin ectodermal dysplasia syndrome
NM_003722.4(TP63):c.1028G>A (p.Arg343Gln)	8626	TP63	Pathogenic	121908841	RCV000006908;	N	MedGen:C1858562,OMIM:604292	3	189586404	189586404	NM_003722.4:c.1028G>A	NP_003713.3:p.Arg343Gln	NC_000003.11:g.189586404G>A	OMIM Allelic Variant:603273.0008	C1858562 604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
NM_003722.4(TP63):c.1033T>C (p.Cys345Arg)	8626	TP63	Pathogenic	121908837	RCV000006902;	N	MedGen:C1858562,OMIM:604292	3	189586409	189586409	NM_003722.4:c.1033T>C	NP_003713.3:p.Cys345Arg	NC_000003.11:g.189586409T>C	OMIM Allelic Variant:603273.0003	C1858562 604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
NM_003722.4(TP63):c.1037C>G (p.Ala346Gly)	8626	TP63	Pathogenic	797044484	RCV000190455;	N	MedGen:C1858562,OMIM:604292	3	189586413	189586413	NM_003722.4:c.1037C>G	NP_003713.3:p.Ala346Gly	NC_000003.11:g.189586413C>G	-	C1858562 604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
NM_003722.4(TP63):c.1052A>G (p.Asp351Gly)	8626	TP63	Pathogenic	121908844	RCV000006915;	N	MedGen:C1858562,OMIM:604292	3	189586428	189586428	NM_003722.4:c.1052A>G	NP_003713.3:p.Asp351Gly	NC_000003.11:g.189586428A>G	OMIM Allelic Variant:603273.0015	C1858562 604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3