MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

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)
........CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
........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 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
........ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
........ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
........Ectodermal Dysplasia 3, Anhidrotic (D053359)
........ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
........ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
........ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
........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-Skin Fragility Syndrome (C536183)
........ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
........ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
........ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
........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)
........Facial ectodermal dysplasia (C536385)
........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)
........LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
........Madokoro Ohdo Sonoda syndrome (C537838)
........Naegeli syndrome (C538331)
........NEMO mutation with immunodeficiency (C538399)
........Neurocutaneous Syndromes (D020752) 42 C:1
........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 1, PHOTOSENSITIVE (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)
..DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144 C:1
..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,ClinVar, CTD

Term ID:

3967

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:

DO:DOID:14693|OMIM:107600|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: 107600;
MSeqDR :
MSeqDR has 1 matches in descendants: 00392;
Genes: BMS1; GJB6; SLC16A1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0004471	Aplasia cutis congenita over the scalp vertex

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_014753.4(BMS1):c.2225C>T (p.Pro742Leu)	9790	BMS1	Uncertain significance	-1	RCV001682624;	N	Human Phenotype Ontology:HP:0001057,MONDO:MONDO:0007145,MedGen:C0282160,OMIM:107600, Orphanet:1114	10	43294051	43294051	C	T	43294051	-
NM_014753.4(BMS1):c.2789G>A (p.Arg930His)	9790	BMS1	Pathogenic	rs587777706	RCV000144047;	N	Human Phenotype Ontology:HP:0001057,MONDO:MONDO:0007145,MedGen:C0282160,OMIM:107600, Orphanet:1114	10	43315975	43315975	G	A	10:g.43315975G>A	ClinGen:CA170730,UniProtKB:Q14692#VAR_072539,OMIM:611448.0001

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