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Experimental Factor Ontology
| Preferred Name | inherited pseudoxanthoma elasticum | |
| Synonyms |
inherited Gronblad Strandberg syndrome inherited PXE |
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| Definitions |
An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0100091 |
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| database_cross_reference |
MEDGEN:697574 UMLS:C1274225 GARD:9643
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|
| definition |
An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.
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| exactMatch | ||
| has_exact_synonym |
inherited Gronblad Strandberg syndrome inherited PXE
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|
| id |
MONDO:0100091
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
| label |
inherited pseudoxanthoma elasticum
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|
| notation |
MONDO:0100091
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| preferred label |
inherited pseudoxanthoma elasticum
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|
| prefLabel |
inherited pseudoxanthoma elasticum
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| see also |
https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum |
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| subClassOf |
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