{"Name":"Xeroderma pigmentosum variant type","DiseaseID__c":"GARD:0005630","id":5630,"encodedName":"xeroderma-pigmentosum-variant-type","IsDeleted":false,"Disease_Name_Full__c":"Xeroderma pigmentosum variant type","Xref_IDs__c":"C141367; C1848410; C536766; DOID:0110847; MEDGEN:376352; MONDO:0010214; OMIM:278750; ORPHA:90342","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010214","Disease_Description__c":"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.","GARD_Name__c":"Xeroderma pigmentosum variant type","GARD_Synonym__c":"photosensitivity with defective dna synthesis; polh-related xeroderma pigmentosum; xeroderma pigmentosum variant; xeroderma pigmentosum with normal dna repair rates; xpv","Curated_Disease_Description_Source__c":"MONDO:0010214","Curated_Disease_Description__c":"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:90342","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010214","ORPHANET_ID__c":"ORPHA:90342","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Xeroderma pigmentoso tipo variante","Spanish_Description_Source__c":"ORPHA:90342","Spanish_Description__c":"El xeroderma pigmentoso de tipo variante es el subtipo más leve de xeroderma pigmentoso (XP, consulte este término), una fotodermatosis rara caracterizada por sensibilidad severa al sol y un mayor riesgo de cáncer de piel. Con frecuencia se diagnostica en la adolescencia o durante en la segunda década de la vida.","Spanish_Disease_Name__c":"xeroderma pigmentoso tipo variante","Spanish_GARD_Synonym__c":"xpv","Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.","Curated_Disease_Description_Source__c":"MONDO:0010214","GARD_Synonym__c":"photosensitivity with defective dna synthesis; polh-related xeroderma pigmentosum; xeroderma pigmentosum variant; xeroderma pigmentosum with normal dna repair rates; xpv","Name":"Xeroderma pigmentosum variant type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Xeroderma Pigmentosum Society","Website__c":"https://www.xps.org/"},{"Account_Name__c":"XP Light of Hope Group","Website__c":"https://xpgrupoluzdeesperanza.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:90342"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:90342"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1848410"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005630","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1397","Source__c":"Gene Review","Xref__c":"NBK1397"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C141367","Source__c":"C1848410; MONDO:0010214","Xref__c":"C141367"},{"URL__c":"https://www.omim.org/entry/278750","Source__c":"C1848410; MONDO:0010214; ORPHA:90342","Xref__c":"OMIM:278750"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848410","Source__c":"C1848410","Xref__c":"C1848410"},{"URL__c":"https://www.orpha.net/en/disease/detail/90342","Source__c":"C1848410; MONDO:0010214; ORPHA:90342","Xref__c":"ORPHA:90342"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110847","Source__c":"MONDO:0010214","Xref__c":"DOID:0110847"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536766","Source__c":"MONDO:0010214","Xref__c":"C536766"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376352","Source__c":"C1848410","Xref__c":"MEDGEN:376352"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010214","Source__c":"GARD:0005630","Xref__c":"MONDO:0010214"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"POLH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/polh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000491","HPO_Synonym__c":"Corneal inflammation","HPO_Name__c":"Keratitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of squamous cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002860","HPO_Name__c":"Squamous cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90342","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90342","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007603","HPO_Synonym__c":"Freckles in sun-exposed areas","HPO_Name__c":"Freckles in sun-exposed areas","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90342","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001029","HPO_Name__c":"Poikiloderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Partial or complete wasting (atrophy) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004334","HPO_Synonym__c":"Atrophic skin; Skin atrophy; Skin degeneration","HPO_Name__c":"Dermal atrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90342","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90342","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of skin color related to a decrease in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001010","HPO_Synonym__c":"Hypopigmentation; Hypopigmented skin; Patchy lightened skin","HPO_Name__c":"Hypopigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001009","HPO_Synonym__c":"Telangiectases","HPO_Name__c":"Telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002861","HPO_Synonym__c":"Malignant melanoma","HPO_Name__c":"Melanoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90342","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a basal cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002671","HPO_Synonym__c":"Basal cell carcinomas; Basal cell epithelioma; Basal cell nevus; Basalioma","HPO_Name__c":"Basal cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Ophthalmology","Dermatology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Account":["Dermatology"]},"synonyms":["photosensitivity with defective dna synthesis"," polh-related xeroderma pigmentosum"," xeroderma pigmentosum variant"," xeroderma pigmentosum with normal dna repair rates"," xpv"]}