MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- HPO Ontology Browser
- Core Symptoms (draft)
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
Collaboration
Submission

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

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: Keratosis (D007642)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Darier Disease (D007644)
Child Nodes:
........Burnett Schwartz Berberian syndrome (C537412)
........Darier Disease, Acral Hemorrhagic Type (C565125)
........Darier Disease, Segmental (C565126)
........Keratosis follicularis dwarfism cerebral atrophy (C536158)
........Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant (C567553)
........Kyrle disease (C538130)
........Van Den Bosch Syndrome (C563129)
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:

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:

Slim Mappings:

Genetic disease (inborn)|Skin disease

Reference:

MedGen: D007644
MeSH: D007644
OMIM: 101900;
MSeqDR :
Genes: ATP2A2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0200016	Acrokeratosis
3	HP:0025092	Epidermal acanthosis
4	HP:0000962	Hyperkeratosis
5	HP:0001807	Ridged nail

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_170665.4(ATP2A2):c.-10C>G	488	ATP2A2	Benign/Likely benign	rs201929640	RCV000279704\|RCV000434109\|RCV002259834\|RCV002494959;	N	MONDO: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,Or	12	110719585	110719585	12:g.110719585C>G	ClinGen:CA6783565	C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.81A>G (p.Glu27=)	488	ATP2A2	Benign	rs3026434	RCV000334788\|RCV000444637\|RCV002259835\|RCV002056262;	N	MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218\|MedGen:CN169374\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151\|MedGen:CN517202	12	110719675	110719675	12:g.110719675A>G	ClinGen:CA6783574	C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.136+21_136+22del	488	ATP2A2	Conflicting interpretations of pathogenicity	rs763637617	RCV001197471\|RCV002069283;	N	MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151\|MedGen:CN517202	12	110720446	110720447	12:g.110720446_110720447del	-
NM_170665.4(ATP2A2):c.220-18G>A	488	ATP2A2	Benign	rs35235621	RCV000420970\|RCV002061339\|RCV002259941\|RCV002259942;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151	12	110729807	110729807	12:g.110729807G>A	ClinGen:CA6783649	CN169374 not specified;
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)	488	ATP2A2	Benign/Likely benign	rs55984131	RCV000369188\|RCV000424919\|RCV000891749\|RCV002259836\|RCV002502210;	N	MONDO: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:C002259	12	110734406	110734406	12:g.110734406A>G	ClinGen:CA6783675	C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.545-7C>T	488	ATP2A2	Benign	rs369585470	RCV000710697\|RCV002260041\|RCV002260040;	N	MedGen:CN517202\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151\|MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218	12	110764188	110764188	NC_000012.11:g.110764188C>T	-
NM_170665.4(ATP2A2):c.688A>G (p.Thr230Ala)	488	ATP2A2	Uncertain significance	rs1337166364	RCV001196481;	N	MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151	12	110765415	110765415	12:g.110765415A>G	-
NM_170665.4(ATP2A2):c.1096-16C>T	488	ATP2A2	Benign/Likely benign	rs56253731	RCV000435648\|RCV002061656\|RCV002259943\|RCV002259944\|RCV002488901;	N	MedGen: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,	12	110770386	110770386	12:g.110770386C>T	ClinGen:CA6783811	CN169374 not specified;
NM_170665.4(ATP2A2):c.1167T>C (p.Tyr389=)	488	ATP2A2	Benign	rs115016152	RCV000321608\|RCV000710696\|RCV002259837;	N	MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218\|MedGen:CN517202\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151	12	110770473	110770473	12:g.110770473T>C	ClinGen:CA6783830	C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.1287+3A>G	488	ATP2A2	Benign	rs376753206	RCV000991568\|RCV001108949\|RCV002260129;	N	MedGen:CN517202\|MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151	12	110771091	110771091	12:g.110771091A>G	-
NM_170665.4(ATP2A2):c.1323A>G (p.Thr441=)	488	ATP2A2	Benign	rs148550709	RCV000357731\|RCV000902604\|RCV002259838;	N	MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218\|MedGen:CN517202\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151	12	110771852	110771852	12:g.110771852A>G	ClinGen:CA6783877	C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.1420-8C>G	488	ATP2A2	Benign	rs112499287	RCV000267776\|RCV000953488\|RCV002259839;	N	MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218\|MedGen:CN517202\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151	12	110777078	110777078	12:g.110777078C>G	ClinGen:CA6783906	C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.1805C>T (p.Pro602Leu)	488	ATP2A2	Pathogenic	rs121912737	RCV000019377\|RCV001650836;	N	MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151\|MedGen:CN517202	12	110778507	110778507	12:g.110778507C>T	ClinGen:CA127427,UniProtKB:P16615#VAR_017532,OMIM:108740.0011	C0265971 101900 Acrokeratosis verruciformis of Hopf;
NM_170665.4(ATP2A2):c.2030G>C (p.Arg677Pro)	488	ATP2A2	Uncertain significance	-1	RCV001839191;	N	MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218; MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151	12	110778732	110778732	110778732	-
NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=)	488	ATP2A2	Benign	rs140766323	RCV000387100\|RCV002487365;	N	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	12	110778760	110778760	12:g.110778760C>T	ClinGen:CA6784025	C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.2093C>T (p.Ala698Val)	488	ATP2A2	Pathogenic	rs387906594	RCV000022449;	N	MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151	12	110778795	110778795	12:g.110778795C>T	OMIM:108740.0013,ClinGen:CA128497	C0265971 101900 Acrokeratosis verruciformis of Hopf;
NM_170665.4(ATP2A2):c.2172G>A (p.Ala724=)	488	ATP2A2	Benign	rs56243033	RCV000292724\|RCV001653510\|RCV002259840;	N	MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218\|MedGen:CN517202\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151	12	110780107	110780107	12:g.110780107G>A	ClinGen:CA6784060	C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.2202G>A (p.Leu734=)	488	ATP2A2	Benign	rs12312588	RCV000957119\|RCV001113310\|RCV002260119;	N	MedGen:CN517202\|MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151	12	110780137	110780137	12:g.110780137G>A	-
NM_170665.4(ATP2A2):c.2319-12G>A	488	ATP2A2	Benign	rs369489819	RCV000407839\|RCV002259841\|RCV002056264;	N	MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151\|MedGen:CN517202	12	110781025	110781025	NC_000012.11:g.110781025G>A	ClinGen:CA6784095	C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.2628A>G (p.Lys876=)	488	ATP2A2	Benign	rs149324360	RCV000402722\|RCV000516338\|RCV000967289\|RCV002259842;	N	MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151	12	110783074	110783074	NC_000012.11:g.110783074A>G	ClinGen:CA6784170	C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.2742-6C>T	488	ATP2A2	Benign	rs201579013	RCV000309438\|RCV000923714\|RCV002259843;	N	MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218\|MedGen:CN517202\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151	12	110783800	110783800	NC_000012.11:g.110783800C>T	ClinGen:CA6784211	C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.2860-10TG[2]	488	ATP2A2	Benign/Likely benign	rs372303998	RCV000359763\|RCV000960169\|RCV002259844;	N	MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218\|MedGen:CN517202\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151	12	110783996	110783997	NC_000012.11:g.110783997GT[2]	ClinGen:CA6784242	C0022595 124200 Keratosis follicularis;
NM_170665.4(ATP2A2):c.2925C>T (p.Pro975=)	488	ATP2A2	Benign	rs147558863	RCV000517237\|RCV002259983\|RCV000949364\|RCV002259982;	N	MedGen:CN169374\|MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900, Orphanet:79151\|MedGen:CN517202\|MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200, Orphanet:218	12	110784071	110784071	12:g.110784071C>T	ClinGen:CA6784253	CN169374 not specified;

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen