{"Name":"Schöpf-Schulz-Passarge syndrome","DiseaseID__c":"GARD:0016649","id":16649,"encodedName":"schpf-schulz-passarge-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Schöpf-Schulz-Passarge syndrome","Xref_IDs__c":"700062000; C1857069; C565607; DOID:0111647; MEDGEN:347366; MONDO:0009145; OMIM:224750; ORPHA:50944","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009145","Disease_Description__c":"Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.","GARD_Name__c":"Schöpf-Schulz-Passarge syndrome","GARD_Synonym__c":"eccrine tumors ectodermal dysplasia; eccrine tumors with ectodermal dysplasia; eccrine tumors-ectodermal dysplasia; keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis; keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; keratosis palmoplantaris, cystic eyelids, hypodontia, hypotrichosis syndrome; palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; palmoplantar hyperkeratosis, cystic eyelids, hypodontia, hypotrichosis syndrome; palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; palmoplantar keratoderma, cystic eyelids, hypodontia, hypotrichosis syndrome; schöpf schulz passarge syndrome; ssps; ssps - schöpf schulz passarge syndrome","Curated_Disease_Description_Source__c":"MONDO:0009145","Curated_Disease_Description__c":"Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:50944","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009145","ORPHANET_ID__c":"ORPHA:50944","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de schöpf-schulz-passarge","Spanish_Description_Source__c":"ORPHA:50944","Spanish_Description__c":"El síndrome de Schöpf-Schulz-Passarge (SSSP) es una displasia ectodérmica autosómica recesiva rara caracterizada por múltiples hidrocistomas apocrinos en los párpados, queratodermia palmoplantar, hipotricosis, hipodoncia y distrofia de las uñas.","Spanish_Disease_Name__c":"síndrome de schöpf-schulz-passarge","Spanish_GARD_Synonym__c":"ssps; síndrome de hiperqueratosis palmoplantar-párpados quísticos-hipodoncia-hipotricosis; síndrome de queratodermia palmoplantar-párpados quísticos-hipodoncia-hipotricosis; síndrome de queratosis palmoplantar-párpados quísticos-hipodoncia-hipotricosis; tumores ecrinos-displasia ectodérmica","Category_Linearization__c":"ORPHA:93890","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":"Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.","Curated_Disease_Description_Source__c":"MONDO:0009145","GARD_Synonym__c":"eccrine tumors ectodermal dysplasia; eccrine tumors with ectodermal dysplasia; eccrine tumors-ectodermal dysplasia; keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis; keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; keratosis palmoplantaris, cystic eyelids, hypodontia, hypotrichosis syndrome; palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; palmoplantar hyperkeratosis, cystic eyelids, hypodontia, hypotrichosis syndrome; palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; palmoplantar keratoderma, cystic eyelids, hypodontia, hypotrichosis syndrome; schöpf schulz passarge syndrome; ssps; ssps - schöpf schulz passarge syndrome","Name":"Schöpf-Schulz-Passarge syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:50944"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:50944"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/50944","Source__c":"C1857069; MONDO:0009145; ORPHA:50944","Xref__c":"ORPHA:50944"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565607","Source__c":"MONDO:0009145","Xref__c":"C565607"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=700062000","Source__c":"C1857069; MONDO:0009145","Xref__c":"700062000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347366","Source__c":"C1857069","Xref__c":"MEDGEN:347366"},{"URL__c":"https://www.omim.org/entry/224750","Source__c":"C1857069; MONDO:0009145; ORPHA:50944","Xref__c":"OMIM:224750"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111647","Source__c":"MONDO:0009145","Xref__c":"DOID:0111647"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857069","Source__c":"C1857069","Xref__c":"C1857069"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009145","Source__c":"GARD:0016649","Xref__c":"MONDO:0009145"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"WNT10A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/wnt10a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:50944","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100615","HPO_Synonym__c":"Neoplasm of the ovaries; Neoplasm of the ovary; Ovarian tumor","HPO_Name__c":"Ovarian neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50944","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50944","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of the primary (also known as deciduous) teeth before the usual age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006323","HPO_Synonym__c":"Early loss of baby teeth; Early loss of deciduous teeth; Early loss of primary teeth; Premature deciduous tooth loss; Premature loss of baby teeth; Premature loss of deciduous teeth","HPO_Name__c":"Premature loss of primary teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50944","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000968","HPO_Name__c":"Ectodermal dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50944","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50944","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007380","HPO_Synonym__c":"Facial telangiectatic vessels; Telangiectasia, facial","HPO_Name__c":"Facial telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50944","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50944","HPO_Frequency__c":"Occasional (5-29%)","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:50944","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50944","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100840","HPO_Synonym__c":"Absence of eyebrow; Agenesis of eyebrow; Hypotrophic eyebrow; Lack of eyebrow; Missing eyebrow","HPO_Name__c":"Aplasia/Hypoplasia of the eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50944","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000320","HPO_Synonym__c":"Bird-like facial appearance","HPO_Name__c":"Bird-like facies","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50944","HPO_Frequency__c":"Occasional (5-29%)","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","Dermatology","Odontology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["eccrine tumors ectodermal dysplasia"," eccrine tumors with ectodermal dysplasia"," eccrine tumors-ectodermal dysplasia"," keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis"," keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome"," keratosis palmoplantaris, cystic eyelids, hypodontia, hypotrichosis syndrome"," palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome"," palmoplantar hyperkeratosis, cystic eyelids, hypodontia, hypotrichosis syndrome"," palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome"," palmoplantar keratoderma, cystic eyelids, hypodontia, hypotrichosis syndrome"," schöpf schulz passarge syndrome"," ssps"," ssps - schöpf schulz passarge syndrome"]}