Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

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

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Skin Abnormalities (D012868)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Ectodermal Dysplasia (D004476)
Child Nodes:
........Adams Oliver syndrome (C538225)
........Alves Castelo dos Santos syndrome (C536593)
........Anal sphincter dysplasia (C538254)
........Aplasia cutis congenita intestinal lymphangiectasia (C537788)
........Aplasia cutis congenita of limbs recessive (C536840)
........Aplasia Cutis Congenita with Epibulbar Dermoids (C563969)
........Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
........Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
........AREDYLD Syndrome (C537427)
........Arthrogryposis and ectodermal dysplasia (C537441)
........Basan syndrome (C537659)
........Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
........Brunoni syndrome (C537408)
........Cardiofaciocutaneous syndrome (C535579)
........Cerebellar ataxia ectodermal dysplasia (C535350)
........Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 (C565070)
........Congenital ectodermal dysplasia with hearing loss (C535757)
........Contractures ectodermal dysplasia cleft lip palate (C535465)
........Cranioectodermal Dysplasia (C562966) 1
........Deafness with Anhidrotic Ectodermal Dysplasia (C565119)
........Dermatoosteolysis Kirghizian type (C535373)
........Ectodermal Dysplasia 1, Anhidrotic (D053358) 1
........Ectodermal Dysplasia 3, Anhidrotic (D053359)
........ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
........Ectodermal dysplasia adrenal cyst (C538015)
........Ectodermal dysplasia alopecia preaxial polydactyly (C538016)
........Ectodermal Dysplasia and Neurosensory Deafness (C565606)
........Ectodermal dysplasia mental retardation syndactyly (C538018)
........Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
........Ectodermal Dysplasia with Natal Teeth, Turnpenny Type (C563347)
........Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
........Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
........Ectodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
........Ectodermal Dysplasia, Hidrotic, Autosomal Recessive (C566553)
........Ectodermal dysplasia, hidrotic, Christianson-Fourie type (C536180)
........Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive (D053360)
........Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum (C565605)
........Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604)
........Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
........Ectodermal Dysplasia, Pure Hair-Nail Type (C566592)
........Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
........Ectodermal Dysplasia, Trichoodontoonychial Type (C565068)
........ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
........ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
........Ectodermal dysplasia/ skin fragility syndrome (C536183)
........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 lip/palate syndrome (C536189)
........Ellis-Van Creveld Syndrome (D004613) 6
........Epidermolysis bullosa with pyloric atresia (C535377)
........Euhidrotic ectodermal dysplasia (C535763)
........Focal Dermal Hypoplasia (D005489) 1
........Focal facial dermal dysplasia (C537068)
........Freire-Maia odontotrichomelic syndrome (C535637)
........Halal Setton Wang syndrome (C535621)
........Hay Wells syndrome recessive type (C535846)
........Hay-Wells syndrome (C535847)
........Hyper-IgM Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic (C564542)
........Johanson Blizzard syndrome (C535880)
........Jones Hersh Yusk syndrome (C535885)
........Ladda Zonana Ramer syndrome (C538135)
........Lelis Syndrome (C564261)
........Madokoro Ohdo Sonoda syndrome (C537838)
........Naegeli syndrome (C538331)
........NEMO mutation with immunodeficiency (C538399)
........Neurocutaneous Syndromes (D020752) 42
........Odontomicronychial dysplasia (C537741)
........Odontoonychodermal dysplasia (C537742)
........Odontotrichoungual-Digital-Palmar Syndrome (C566598)
........Orofacial Cleft 7 (C563464)
........Pachyonychia Congenita (D053549) 5
........Pinheiro Freire-Maia Miranda syndrome (C537402)
........Propping Zerres syndrome (C538052)
........Rapp-Hodgkin syndrome (C535289)
........Robinson Miller Bensimon syndrome (C535864)
........Rosselli-Gulienetti Syndrome (C563117)
........Sener syndrome (C537579)
........Seres-Santamaria Arimany Muniz syndrome (C537585)
........Taurodontia absent teeth sparse hair (C536945)
........Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities (C536496)
........Trichodental syndrome (C536551)
........Trichoodontoonychial Dysplasia (C564760)
........Trichoscyphodysplasia (C536557)
........TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
........Trueb Burg Bottani syndrome (C536565)
........Yunis Varon syndrome (C536719)
........Zlotogora-Ogur syndrome (C536726)
Sister Nodes:
..Actinic Prurigo (C566780)
..Albinism (D000417) 30
..Amyloidosis IX (C562643)
..Amyloidosis, Cutaneous Bullous (C562644)
..Amyloidosis, Primary Cutaneous (C562642)
..Annular Erythema (C562461)
..Arterial Tortuosity Syndrome (C565942)
..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Buschke-Ollendorff syndrome (C537415)
..Collagenosis, Familial Reactive Perforating (C565687)
..Cutis Laxa (D003483) 17
..Darier Disease (D007644) 7
..Dermatitis, Atopic (D003876) 9
..dowling-degos disease (C562924)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Erythrokeratodermia Variabilis (D056266) 3
..Erythrokeratodermia with ataxia (C535738)
..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..Fingerprints, Absence of (C565010)
..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..Gerodermia osteodysplastica (C537799)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Histiocytic Dermatoarthritis (C564183)
..Hyalinosis, Systemic (D057770)
..Hyaluronan Metabolism, Defect in (C565742)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis, X-Linked (D016114) 2
..Incontinentia Pigmenti (D007184) 2
..Juvenile Spring Eruption of Ears (C566781)
..Keratoderma, Palmoplantar (D007645) 45
..Keratolytic winter erythema (C536155)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Leukokeratosis, Hereditary Mucosal (D053529)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Lipoid Proteinosis of Urbach and Wiethe (D008065)
..Monilethrix (D056734) 1
..Muir-Torre Syndrome (D055653)
..Netherton Syndrome (D056770)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Orofaciodigital syndrome 9 (C557818)
..Osseous Heteroplasia, Progressive (C562735)
..Osteopoikilosis, Isolated (C563484)
..Parana Hard Skin Syndrome (C564905)
..Peeling Skin Syndrome (C564818)
..Pemphigus, Benign Familial (D016506)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Plasminogen Deficiency, Type I (C566897)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Porokeratosis (D017499) 7
..Porphyria, Erythropoietic (D017092)
..Porphyrias, Hepatic (D017094) 14
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Rothmund-Thomson Syndrome (D011038) 5
..Sjogren-Larsson Syndrome (D016111) 1
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Stiff Skin Syndrome (C566112)
..Storm Syndrome (C566109)
..Trichothiodystrophy Syndromes (D054463) 5
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Vohwinkel Syndrome, Variant Form (C565826)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3601

Name:

Ectodermal Dysplasia

Definition:

A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.

Alternative IDs:

OMIM:129500

ParentIDs:

MESH:D000015|MESH:D012868|MESH:D012873

TreeNumbers:

C16.131.077.350 |C16.131.831.350 |C16.320.850.250 |C17.800.804.350 |C17.800.827.250

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Skin disease

Reference:

MedGen: D004476
MeSH: D004476
OMIM: 129500;

Genes: GJB6;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000164	Abnormality of the dentition
3	HP:0002221	Absent axillary hair
4	HP:0002555	Absent pubic hair
5	HP:0007418	Alopecia totalis
6	HP:0000498	Blepharitis
7	HP:0002299	Brittle hair
8	HP:0000518	Cataract
9	HP:0000509	Conjunctivitis
10	HP:0000968	Ectodermal dysplasia
11	HP:0002213	Fine hair
12	HP:0000953	Hyperpigmentation of the skin
13	HP:0002164	Nail dysplasia
14	HP:0008404	Nail dystrophy
15	HP:0001806	Onycholysis
16	HP:0000972	Palmoplantar hyperkeratosis
17	HP:0000613	Photophobia
18	HP:0004322	Short stature
19	HP:0002217	Slow-growing hair
20	HP:0001792	Small nail
21	HP:0000535	Sparse and thin eyebrow
22	HP:0000653	Sparse eyelashes
23	HP:0000486	Strabismus
24	HP:0003828	Variable expressivity

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_006783.4(GJB6):c.263C>T (p.Ala88Val)	10804	GJB6	Pathogenic	28937872	RCV000005883;	N	MedGen:C0162361,OMIM:129500,ORPHA:189,SNOMED CT:54209007	13	20797357	20797357	NM_006783.4:c.263C>T	NP_006774.2:p.Ala88Val	NC_000013.10:g.20797357G>A	OMIM Allelic Variant:604418.0003	C0162361 129500 Hidrotic ectodermal dysplasia syndrome
NM_006783.4(GJB6):c.110T>A (p.Val37Glu)	10804	GJB6	Pathogenic	104894416	RCV000005886;	N	MedGen:C0162361,OMIM:129500,ORPHA:189,SNOMED CT:54209007	13	20797510	20797510	NM_006783.4:c.110T>A	NP_006774.2:p.Val37Glu	NC_000013.10:g.20797510A>T	OMIM Allelic Variant:604418.0005	C0162361 129500 Hidrotic ectodermal dysplasia syndrome
NM_006783.4(GJB6):c.31G>A (p.Gly11Arg)	10804	GJB6	Pathogenic	104894415	RCV000005882; RCV000168673;	N	MedGen:C0162361,OMIM:129500,ORPHA:189,SNOMED CT:54209007; MedGen:C2675235,OMIM:612645	13	20797589	20797589	NM_006783.4:c.31G>A	NP_006774.2:p.Gly11Arg	NC_000013.10:g.20797589C>T	OMIM Allelic Variant:604418.0002	C2675235 612645 Deafness, autosomal recessive 1b; C0162361 129500 Hidrotic ectodermal dysplasia syndrome