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Disease Browser
Parent Node:
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Keratosis (D007642)
Parent Node:
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Skin Diseases, Genetic (D012873)
..Starting node
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Darier Disease (D007644)

       Child Nodes:
........expandBurnett Schwartz Berberian syndrome (C537412)
........expandDarier Disease, Acral Hemorrhagic Type (C565125)
........expandDarier Disease, Segmental (C565126)
........expandKeratosis follicularis dwarfism cerebral atrophy (C536158)
........expandKeratosis Follicularis Spinulosa Decalvans, Autosomal Dominant (C567553)
........expandKyrle disease (C538130)
........expandVan Den Bosch Syndrome (C563129)



 Sister Nodes: 
..expandActinic Prurigo (C566780)
..expandAlbinism (D000417) Child30
..expandAmyloidosis IX (C562643)
..expandAmyloidosis, Cutaneous Bullous (C562644)
..expandAmyloidosis, Primary Cutaneous (C562642)
..expandAnnular Erythema (C562461)
..expandArterial Tortuosity Syndrome (C565942)
..expandAtrophia Maculosa Varioliformis Cutis, Familial (C563349)
..expandBasaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..expandBuschke-Ollendorff syndrome (C537415)
..expandCollagenosis, Familial Reactive Perforating (C565687)
..expandCutis Laxa (D003483) Child17
..expandDarier Disease (D007644) Child7
..expandDermatitis, Atopic (D003876) Child9
..expandDowling-Degos Disease (C562924)
..expandDyschromatosis universalis hereditaria (C535730)
..expandDyschromatosis Universalis Hereditaria 1 (C567273)
..expandDyschromatosis Universalis Hereditaria 2 (C567194)
..expandDYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
..expandDyskeratosis Congenita (D019871) Child3
..expandEctodermal Dysplasia (D004476) Child144  LSDB C:1
..expandEhlers-Danlos Syndrome (D004535) Child23
..expandEpidermolysis Bullosa (D004820) Child29
..expandErythrokeratodermia Variabilis (D056266) Child3
..expandErythrokeratodermia with ataxia (C535738)
..expandExfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..expandFingerprints, Absence of (C565010)
..expandFollicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..expandGerodermia osteodysplastica (C537799)
..expandHereditary Autoinflammatory Diseases (D056660) Child10
..expandHistiocytic Dermatoarthritis (C564183)
..expandHyalinosis, Systemic (D057770)
..expandHyaluronan Metabolism, Defect in (C565742)
..expandIchthyosiform Erythroderma, Congenital (D016113) Child18
..expandIchthyosis Bullosa of Siemens (D053560)
..expandIchthyosis Vulgaris (D016112) Child1
..expandIchthyosis, X-Linked (D016114) Child2
..expandIncontinentia Pigmenti (D007184) Child2
..expandJuvenile Spring Eruption of Ears (C566781)
..expandKeratoderma, Palmoplantar (D007645) Child45
..expandKeratolytic winter erythema (C536155)
..expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandLeukokeratosis, Hereditary Mucosal (D053529)
..expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..expandLipoid Proteinosis of Urbach and Wiethe (D008065)
..expandMonilethrix (D056734) Child1
..expandMuir-Torre Syndrome (D055653)
..expandNetherton Syndrome (D056770)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOculotrichodysplasia (C564934)
..expandOnychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..expandOrofaciodigital syndrome 9 (C557818)
..expandOsseous Heteroplasia, Progressive (C562735)
..expandOsteopoikilosis, Isolated (C563484)
..expandParana Hard Skin Syndrome (C564905)
..expandPeeling Skin Syndrome (C564818)
..expandPemphigus, Benign Familial (D016506)
..expandPerifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPlasminogen Deficiency, Type I (C566897)
..expandPoikiloderma, Hereditary Sclerosing (C562824)
..expandPorokeratosis (D017499) Child7
..expandPorphyria, Erythropoietic (D017092)
..expandPorphyrias, Hepatic (D017094) Child14
..expandProlidase Deficiency (D056732)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandRothmund-Thomson Syndrome (D011038) Child5
..expandSjogren-Larsson Syndrome (D016111) Child1
..expandSkin Fragility-Woolly Hair Syndrome (C564359)
..expandStiff Skin Syndrome (C566112)
..expandStorm Syndrome (C566109)
..expandTrichothiodystrophy Syndromes (D054463) Child5
..expandVitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..expandVohwinkel Syndrome, Variant Form (C565826)
..expandXeroderma Pigmentosum (D014983) Child16
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3291
Name:Darier Disease
Definition:An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.
Alternative IDs:DO:DOID:2734|OMIM:101900|OMIM:124200
ParentIDs:MESH:D007642|MESH:D012873
TreeNumbers:C16.320.850.190 |C17.800.428.275 |C17.800.827.190
Synonyms:Acantholytic Dyskeratotic Epidermal Nevi |Acantholytic Dyskeratotic Epidermal Nevus |Acrokeratosis Verruciformis |Acrokeratosis Verruciformis of Hopf |AKV |DAR |DARIER DISEASE;DD DARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDED |DARIER DISEASE, SEGMENTAL, INCL
Slim Mappings:Genetic disease (inborn)|Skin disease
Reference: MedGen: D007644
MeSH: D007644
OMIM: 101900;
MSeqDR LSDB:  
Genes: ATP2A2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0200016Acrokeratosis
3 HP:0025092Epidermal acanthosis
4 HP:0000962Hyperkeratosis
5 HP:0001807Ridged nail
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_170665.4(ATP2A2):c.-10C>G488ATP2A2Benign/Likely benignrs201929640RCV000279704|RCV000434109|RCV002259834|RCV002494959; NMONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MedGen:CN169374|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151; MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200,Or1211071958511071958512:g.110719585C>GClinGen:CA6783565C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.81A>G (p.Glu27=)488ATP2A2Benignrs3026434RCV000334788|RCV000444637|RCV002259835|RCV002056262; NMONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MedGen:CN169374|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151|MedGen:CN5172021211071967511071967512:g.110719675A>GClinGen:CA6783574C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.136+21_136+22del488ATP2A2Conflicting interpretations of pathogenicityrs763637617RCV001197471|RCV002069283; NMONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151|MedGen:CN5172021211072044611072044712:g.110720446_110720447del-
NM_170665.4(ATP2A2):c.220-18G>A488ATP2A2Benignrs35235621RCV000420970|RCV002061339|RCV002259941|RCV002259942; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:791511211072980711072980712:g.110729807G>AClinGen:CA6783649CN169374 not specified;
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)488ATP2A2Benign/Likely benignrs55984131RCV000369188|RCV000424919|RCV000891749|RCV002259836|RCV002502210; NMONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151; MONDO:MONDO:0007417,MedGen:C0022591211073440611073440612:g.110734406A>GClinGen:CA6783675C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.545-7C>T488ATP2A2Benignrs369585470RCV000710697|RCV002260041|RCV002260040; NMedGen:CN517202|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151|MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:21812110764188110764188NC_000012.11:g.110764188C>T-
NM_170665.4(ATP2A2):c.688A>G (p.Thr230Ala)488ATP2A2Uncertain significancers1337166364RCV001196481; NMONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:791511211076541511076541512:g.110765415A>G-
NM_170665.4(ATP2A2):c.1096-16C>T488ATP2A2Benign/Likely benignrs56253731RCV000435648|RCV002061656|RCV002259943|RCV002259944|RCV002488901; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151|MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218; MONDO:MONDO:0007048,MedGen:C0265971,1211077038611077038612:g.110770386C>TClinGen:CA6783811CN169374 not specified;
NM_170665.4(ATP2A2):c.1167T>C (p.Tyr389=)488ATP2A2Benignrs115016152RCV000321608|RCV000710696|RCV002259837; NMONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MedGen:CN517202|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:791511211077047311077047312:g.110770473T>CClinGen:CA6783830C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.1287+3A>G488ATP2A2Benignrs376753206RCV000991568|RCV001108949|RCV002260129; NMedGen:CN517202|MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:791511211077109111077109112:g.110771091A>G-
NM_170665.4(ATP2A2):c.1323A>G (p.Thr441=)488ATP2A2Benignrs148550709RCV000357731|RCV000902604|RCV002259838; NMONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MedGen:CN517202|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:791511211077185211077185212:g.110771852A>GClinGen:CA6783877C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.1420-8C>G488ATP2A2Benignrs112499287RCV000267776|RCV000953488|RCV002259839; NMONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MedGen:CN517202|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:791511211077707811077707812:g.110777078C>GClinGen:CA6783906C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.1805C>T (p.Pro602Leu)488ATP2A2Pathogenicrs121912737RCV000019377|RCV001650836; NMONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151|MedGen:CN5172021211077850711077850712:g.110778507C>TClinGen:CA127427,UniProtKB:P16615#VAR_017532,OMIM:108740.0011C0265971 101900 Acrokeratosis verruciformis of Hopf;
NM_170665.4(ATP2A2):c.2030G>C (p.Arg677Pro)488ATP2A2Uncertain significance-1RCV001839191; NMONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218; MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:7915112110778732110778732110778732-
NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=)488ATP2A2Benignrs140766323RCV000387100|RCV002487365; NMONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151; MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:2181211077876011077876012:g.110778760C>TClinGen:CA6784025C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.2093C>T (p.Ala698Val)488ATP2A2Pathogenicrs387906594RCV000022449; NMONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:791511211077879511077879512:g.110778795C>TOMIM:108740.0013,ClinGen:CA128497C0265971 101900 Acrokeratosis verruciformis of Hopf;
NM_170665.4(ATP2A2):c.2172G>A (p.Ala724=)488ATP2A2Benignrs56243033RCV000292724|RCV001653510|RCV002259840; NMONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MedGen:CN517202|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:791511211078010711078010712:g.110780107G>AClinGen:CA6784060C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.2202G>A (p.Leu734=)488ATP2A2Benignrs12312588RCV000957119|RCV001113310|RCV002260119; NMedGen:CN517202|MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:791511211078013711078013712:g.110780137G>A-
NM_170665.4(ATP2A2):c.2319-12G>A488ATP2A2Benignrs369489819RCV000407839|RCV002259841|RCV002056264; NMONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151|MedGen:CN51720212110781025110781025NC_000012.11:g.110781025G>AClinGen:CA6784095C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.2628A>G (p.Lys876=)488ATP2A2Benignrs149324360RCV000402722|RCV000516338|RCV000967289|RCV002259842; NMONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:7915112110783074110783074NC_000012.11:g.110783074A>GClinGen:CA6784170C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.2742-6C>T488ATP2A2Benignrs201579013RCV000309438|RCV000923714|RCV002259843; NMONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MedGen:CN517202|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:7915112110783800110783800NC_000012.11:g.110783800C>TClinGen:CA6784211C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.2860-10TG[2]488ATP2A2Benign/Likely benignrs372303998RCV000359763|RCV000960169|RCV002259844; NMONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218|MedGen:CN517202|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:7915112110783996110783997NC_000012.11:g.110783997GT[2]ClinGen:CA6784242C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.2925C>T (p.Pro975=)488ATP2A2Benignrs147558863RCV000517237|RCV002259983|RCV000949364|RCV002259982; NMedGen:CN169374|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151|MedGen:CN517202|MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:2181211078407111078407112:g.110784071C>TClinGen:CA6784253CN169374 not specified;
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