{"Name":"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome","DiseaseID__c":"GARD:0017525","id":17525,"encodedName":"corneal-intraepithelial-dyskeratosis-palmoplantar-hyperkeratosis-laryngeal-dyskeratosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome","Xref_IDs__c":"C3808876; MEDGEN:815206; MONDO:0014089; OMIM:615225; ORPHA:352662","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":1,"Description_Source__c":"ORPHA:352662","Disease_Description__c":"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is a rare, genetic, corneal dystrophy disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.","GARD_Name__c":"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome","GARD_Synonym__c":"mspc; palmoplantar carcinoma, multiple self-healing; palmoplantar carcinoma, multiple self-healing; mspc","Curated_Disease_Description_Source__c":"ORPHA:352662","Curated_Disease_Description__c":"A rare opthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:352662","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014089","ORPHANET_ID__c":"ORPHA:352662","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disqueratosis intraepitelial corneal-hiperqueratosis palmoplantar-disqueratosis laríngea","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de disqueratosis intraepitelial corneal-hiperqueratosis palmoplantar-disqueratosis laríngea","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97966","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":"A rare opthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.","Curated_Disease_Description_Source__c":"ORPHA:352662","GARD_Synonym__c":"mspc; palmoplantar carcinoma, multiple self-healing; palmoplantar carcinoma, multiple self-healing; mspc","Name":"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyske","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:352662"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=815206","Source__c":"C3808876","Xref__c":"MEDGEN:815206"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3808876","Source__c":"C3808876","Xref__c":"C3808876"},{"URL__c":"https://www.orpha.net/en/disease/detail/352662","Source__c":"C3808876; MONDO:0014089","Xref__c":"ORPHA:352662"},{"URL__c":"https://www.omim.org/entry/615225","Source__c":"C3808876; MONDO:0014089; ORPHA:352662","Xref__c":"OMIM:615225"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014089","Source__c":"GARD:0017525","Xref__c":"MONDO:0014089"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NLRP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nlrp1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615225","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","Feature__r":{"HPO_Description__c":"A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032107","HPO_Name__c":"Limbal stem cell deficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","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":"OMIM:615225","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ingrowth of new blood vessels into the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011496","HPO_Synonym__c":"Corneal vascularization; Limbal neovascularization; New blood vessel formation in cornea","HPO_Name__c":"Corneal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","Feature__r":{"HPO_Description__c":"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001036","HPO_Name__c":"Parakeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000343","HPO_Synonym__c":"Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum","HPO_Name__c":"Long philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","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":"OMIM:615225","Feature__r":{"HPO_Description__c":"Pathologic deposits of specific fibrillar protein aggregates with distinct microscopic properties, particularly affinity for the dye Congo red with typical birefringence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011034","HPO_Name__c":"Amyloid deposition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","Feature__r":{"HPO_Description__c":"A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032347","HPO_Synonym__c":"Macular amyloidosis","HPO_Name__c":"Cutaneous macular amyloidosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","Feature__r":{"HPO_Description__c":"A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007502","HPO_Synonym__c":"Hyperkeratosis follicularis","HPO_Name__c":"Follicular hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","Feature__r":{"HPO_Description__c":"A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030731","HPO_Name__c":"Carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032152","HPO_Synonym__c":"Carpet tack sign; Chicken skin; Follicular keratosis; Follicular keratotic plug; Follicular plugging; Hyperkeratosis pilaris; Lichen pilaris","HPO_Name__c":"Keratosis pilaris","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006094","HPO_Synonym__c":"Increased mobility in finger joint","HPO_Name__c":"Finger joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615225","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":"OMIM:615225","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Chronic inflammation of the nasal mucosa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002257","HPO_Name__c":"Chronic rhinitis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Ophthalmology","Dermatology","Anterior segment of Eye","Pediatrics"],"Account":["Dermatology"]},"synonyms":["mspc"," palmoplantar carcinoma, multiple self-healing"," palmoplantar carcinoma, multiple self-healing"," mspc"]}