Disease Browser
Parent Node: Connective Tissue Diseases (D003240) Parent Node: Hemostatic Disorders (D020141) Parent Node: Skin Abnormalities (D012868) Parent Node: Skin Diseases, Genetic (D012873) ..Starting node .. Pseudoxanthoma Elasticum (D011561) Child Nodes:
........Pseudoxanthoma Elasticum, Heterozygous (C566744) ........Pseudoxanthoma Elasticum, Modifier Of Severity Of (C564285) ........Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency (C563654) 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: 9439
Name: Pseudoxanthoma Elasticum
Definition: An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.
Alternative IDs: OMIM:177850|OMIM:264800
ParentIDs: MESH:D003240|MESH:D012868|MESH:D012873|MESH:D020141
TreeNumbers: C14.907.454.530 |C15.378.463.515.530 |C16.131.831.766 |C16.320.850.750 |C17.300.766 |C17.800.804.766 |C17.800.827.750
Synonyms: Elasticum, Incomplete Pseudoxanthoma |Elasticums, Incomplete Pseudoxanthoma |Groenblad-Strandberg Syndrome |Gronblad Strandberg Syndrome |Gronblad-Strandberg Syndrome |GRONBLAD-STRANDBERG SYNDROME PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF, INCLUDED |In
Slim Mappings: Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease
Reference:
MedGen: D011561
MeSH: D011561
OMIM: 177850 ; Genes: ABCC6 ; XYLT1 ; XYLT2 ; Phenotypes 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 Disease_hgmd NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter) 368 ABCC6 Pathogenic 72650700 RCV000023280 ; RCV000023279 ; RCV000191057 ; N MedGen:C0033847,OMIM:264800,ORPHA:758,SNOMED CT:252246005; MedGen:C1867450,OMIM:177850; MedGen:C3276161,OMIM:614473 16 16284104 16284104 NM_001171.5:c.1552C>T NP_001162.4:p.Arg518Ter NC_000016.9:g.16284104G>A OMIM Allelic Variant:603234.0027 C3276161 614473 Generalized arterial calcification of infancy 2; C0033847 264800 Pseudoxanthoma elasticum; C1867450 177850 Pseudoxanthoma elasticum, forme fruste