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: 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:

Slim Mappings:

Reference:

MedGen: D011561
MeSH: D011561
OMIM: 177850;

Genes: ABCC6; XYLT1; XYLT2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000766	Abnormal sternum morphology
3	HP:0001681	Angina pectoris
4	HP:0001102	Angioid streaks of the fundus
5	HP:0000592	Blue sclerae
6	HP:0005462	Calcification of falx cerebri
7	HP:0001342	Cerebral hemorrhage
8	HP:0002239	Gastrointestinal hemorrhage
9	HP:0000218	High palate
10	HP:0002705	High, narrow palate
11	HP:0002808	Kyphosis
12	HP:0000608	Macular degeneration
13	HP:0004966	Medial calcification of large arteries
14	HP:0012457	Medial calcification of medium-sized arteries
15	HP:0001634	Mitral valve prolapse
16	HP:0000545	Myopia
17	HP:0025533	Peau d'orange
18	HP:0005297	Premature occlusive vascular stenosis
19	HP:0007663	Reduced visual acuity
20	HP:0000573	Retinal hemorrhage
21	HP:0002650	Scoliosis
22	HP:0000505	Visual impairment
23	HP:0025507	Yellow papule

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