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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:pseudoxanthoma elasticum
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Accession:DOID:2738 term browser browse the term
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.
Synonyms:exact_synonym: Groenblad-Strandberg Syndrome;   Gronblad Strandberg Syndrome;   Incomplete Pseudoxanthoma Elasticum;   Incomplete Pseudoxanthoma Elasticums;   PXE;   Pseudoxanthoma Elasticum, Autosomal Dominant;   Pseudoxanthoma Elasticum, Forme Fruste
 narrow_synonym: GRONBLAD-STRANDBERG SYNDROME PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF;   PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS;   PXE, MODIFIER OF SEVERITY OF
 related_synonym: Pseudoxanthoma Elasticum, Modifier Of Severity Of
 primary_id: MESH:D011561;   RDO:0006430
 alt_id: OMIM:177850;   OMIM:264800
 xref: GARD:9643;   NCI:C85036;   ORDO:758
For additional species annotation, visit the Alliance of Genome Resources.


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pseudoxanthoma elasticum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar PMID:11439001, PMID:16541094 NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 susceptibility
no_association
ISO
IMP
ClinVar Annotator: match by term: Pseudoxanthoma elasticum
ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:264800
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)
DNA:mutations:multiple
DNA:nonsense mutation:exon:p.Q378X (1132C>T) (human)
DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human)
DNA:mutations:exon, intron:multiple
DNA:mutations: :multiple
ClinVar
CTD
OMIM
PMID:10811882, PMID:10835642, PMID:10835643, PMID:10954200, PMID:11179012, PMID:11427982, PMID:11439001, PMID:11474653, PMID:11493310, PMID:11536079, PMID:11692167, PMID:11702217, PMID:11880368, PMID:12069597, PMID:12176944, PMID:12384774, PMID:12673275, PMID:12714611, PMID:12928920, PMID:14631379, PMID:14667841, PMID:15086542, PMID:15098239, PMID:15184964, PMID:15459974, PMID:15645653, PMID:15723264, PMID:15727254, PMID:15894595, PMID:16086317, PMID:16086762, PMID:16127278, PMID:16392638, PMID:16410789, PMID:16541094, PMID:16543900, PMID:16571645, PMID:16573612, PMID:16835894, PMID:17045963, PMID:17617515, PMID:17724214, PMID:17823974, PMID:18049453, PMID:18157818, PMID:18253096, PMID:18800149, PMID:19726431, PMID:19904211, PMID:20034067, PMID:20801516, PMID:22209248, PMID:23415960, PMID:24008425, PMID:24033266, PMID:24088041, PMID:24727260, PMID:25264593, PMID:25741868, PMID:25758222, PMID:26029710, PMID:26084751, PMID:26633545, PMID:28041643, PMID:28102862, PMID:28492532, PMID:29709427, PMID:30311386, PMID:31240106, PMID:32818659, PMID:32860008, PMID:10835643, PMID:28111129, PMID:16835894, PMID:16835894, PMID:11692167, PMID:12714611, PMID:17617515, PMID:16392638, PMID:15459974, PMID:16135817 RGD:737772, RGD:13792593, RGD:11038786, RGD:11038786, RGD:11038785, RGD:11038782, RGD:11038781, RGD:11038779, RGD:11038778, RGD:11038737 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Abcc6em2Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 2, Qiaoli Li IMP RGD PMID:28111129 RGD:13792593
G Abcc6em3Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 3, Qiaoli Li IMP RGD PMID:28111129 RGD:13792593
G Abcc6em4Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 4, Qiaoli Li IMP RGD PMID:28111129 RGD:13792593
G Cat catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar PMID:11439001, PMID:16541094 NCBI chr10:730,215...751,061
Ensembl chr10:730,247...751,061
JBrowse link
G Eln elastin ISO RGD PMID:7524808, PMID:1936214 RGD:9585748, RGD:9585763 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Gpx1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar PMID:11439001, PMID:16541094 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar PMID:16541094 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Sod2 superoxide dismutase 2 onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum
ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of
OMIM
ClinVar
PMID:16571645, PMID:16759312, PMID:25741868, PMID:28492532 NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
JBrowse link
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of
OMIM
ClinVar
CTD
PMID:16571645, PMID:25741868 NCBI chr10:82,386,003...82,399,485
Ensembl chr10:82,386,005...82,399,485
JBrowse link
Pseudoxanthoma Elasticum, Heterozygous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:10811882, PMID:12176944, PMID:12384774, PMID:12714611, PMID:16541094, PMID:18800149, PMID:22209248, PMID:25741868, PMID:28102862, PMID:30311386 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by OMIM:610842
DNA:mutations: :
OMIM
ClinVar
PMID:9615107, PMID:17110937, PMID:18800149, PMID:17110937 RGD:11040509 NCBI chr 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          pseudoxanthoma elasticum 21
            Pseudoxanthoma Elasticum, Heterozygous 1
            Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Hemic and Lymphatic Diseases 2067
        hematopoietic system disease 1653
          blood coagulation disease 624
            hemorrhagic disease 611
              vascular hemostatic disease 298
                pseudoxanthoma elasticum 21
                  Pseudoxanthoma Elasticum, Heterozygous 1
                  Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.