{"Name":"Keratosis follicularis","DiseaseID__c":"GARD:0006243","id":6243,"encodedName":"keratosis-follicularis","IsDeleted":false,"Disease_Name_Full__c":"Keratosis follicularis","Xref_IDs__c":"48611009; C0022595; C84665; D007644; DOID:2734; MEDGEN:5956; MONDO:0007417; OMIM:124200; ORPHA:218","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007417","Disease_Description__c":"A rare, genetic keratinization disorder which is classically characterized by keratotic papules, acral pits, and acral wart-like lesions that can be associated with a trigger, and may occur anywhere on the body (including mucosal surfaces). Extracutaneous manifestations may include, nail anomalies, blepharitis, dry eye, neuropsychiatric illness and, recurrent parotid gland obstruction and xerostomia.","GARD_Name__c":"Keratosis follicularis","GARD_Synonym__c":"dar; darier disease; darier-white disease; darier's disease; dyskeratosis follicularis; psorospermosis; psorospermosis follicularis vegetans","Curated_Disease_Description_Source__c":"GARD:0006243","Curated_Disease_Description__c":"Darier disease is a skin condition characterized by wart-like blemishes on the body.  The blemishes are usually yellowish in color, are hard to the touch, can appear greasy, and can emit a strong odor.  The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ears.  The mucous membranes can also be affected, with blemishes occurring on the roof of the mouth (palate), tongue, gums, and  inside the cheeks and throat.  Other features of Darier disease include nail abnormalities, such as red and white streaks in the nails with an irregular texture, and small pits in the palms of the hands and soles of the feet. The wart-like blemishes characteristic of Darier disease usually appear in late childhood to early adulthood.  The severity of the disease varies over time; affected people experience flare-ups and with periods when they have fewer blemishes.  The appearance of the blemishes is influenced by environmental factors.  Most people with Darier disease will develop more blemishes during the summer when they are exposed to heat and humidity. The number of blemishes can also increase when an affected person is exposed to ultraviolet light; experiences minor injury or friction, such as rubbing or scratching; or takes certain medications. On occasion, people with Darier disease may have neurological disorders such as mild intellectual disabilities, epilepsy, and depression.  Learning and behavior difficulties have also been reported in people with Darier disease.  Researchers do not know if these conditions, which are common in the general population, are associated with the genetic changes that cause Darier disease, or if they are coincidental.  Some researchers believe that behavioral problems might be linked to the social stigma experienced by people with numerous skin blemishes. A form of Darier disease known as the linear or segmental form is characterized by blemishes on localized areas of the skin.  The blemishes are not as widespread as they are in typical Darier disease.  Some people with the linear form of this condition have the nail abnormalities that are seen in people with classic Darier disease, but these abnormalities occur only on one side of the body.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:218","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007417","ORPHANET_ID__c":"ORPHA:218","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de darier","Spanish_Description_Source__c":"ORPHA:218","Spanish_Description__c":"Es un trastorno poco frecuente de la queratinización de origen genético que se caracteriza clásicamente por pápulas queratósicas, depresiones puntiformes acrales y lesiones similares a verrugas acrales que pueden asociarse con un desencadenante y que pueden desarrollarse en cualquier localización anatómica (incluyendo las superficies mucosas). Las manifestaciones extracutáneas pueden incluir anomalías ungueales, blefaritis, ojo seco, trastornos neuropsiquiátricos y obstrucción recurrente de la glándula parótida y xerostomía.","Spanish_Disease_Name__c":"enfermedad de darier","Spanish_GARD_Synonym__c":"enfermedad de darier-white; queratosis folicular","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":"Darier disease is a skin condition characterized by wart-like blemishes on the body.  The blemishes are usually yellowish in color, are hard to the touch, can appear greasy, and can emit a strong odor.  The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ears.  The mucous membranes can also be affected, with blemishes occurring on the roof of the mouth (palate), tongue, gums, and  inside the cheeks and throat.  Other features of Darier disease include nail abnormalities, such as red and white streaks in the nails with an irregular texture, and small pits in the palms of the hands and soles of the feet. The wart-like blemishes characteristic of Darier disease usually appear in late childhood to early adulthood.  The severity of the disease varies over time; affected people experience flare-ups and with periods when they have fewer blemishes.  The appearance of the blemishes is influenced by environmental factors.  Most people with Darier disease will develop more blemishes during the summer when they are exposed to heat and humidity. The number of blemishes can also increase when an affected person is exposed to ultraviolet light; experiences minor injury or friction, such as rubbing or scratching; or takes certain medications. On occasion, people with Darier disease may have neurological disorders such as mild intellectual disabilities, epilepsy, and depression.  Learning and behavior difficulties have also been reported in people with Darier disease.  Researchers do not know if these conditions, which are common in the general population, are associated with the genetic changes that cause Darier disease, or if they are coincidental.  Some researchers believe that behavioral problems might be linked to the social stigma experienced by people with numerous skin blemishes. A form of Darier disease known as the linear or segmental form is characterized by blemishes on localized areas of the skin.  The blemishes are not as widespread as they are in typical Darier disease.  Some people with the linear form of this condition have the nail abnormalities that are seen in people with classic Darier disease, but these abnormalities occur only on one side of the body.","Curated_Disease_Description_Source__c":"GARD:0006243","GARD_Synonym__c":"dar; darier disease; darier-white disease; darier's disease; dyskeratosis follicularis; psorospermosis; psorospermosis follicularis vegetans","Name":"Keratosis follicularis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.org/"},{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"},{"Account_Name__c":"Ichthyosis Support Group","Website__c":"https://www.ichthyosis.org.uk/"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:218"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:218"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:218"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0022595"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006243","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=5956","Source__c":"C0022595","Xref__c":"MEDGEN:5956"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C007644","Source__c":"C0022595; MONDO:0007417","Xref__c":"D007644"},{"URL__c":"https://www.orpha.net/en/disease/detail/218","Source__c":"C0022595; MONDO:0007417; ORPHA:218","Xref__c":"ORPHA:218"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2734","Source__c":"MONDO:0007417","Xref__c":"DOID:2734"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0022595","Source__c":"C0022595","Xref__c":"C0022595"},{"URL__c":"https://www.omim.org/entry/124200","Source__c":"C0022595; MONDO:0007417; ORPHA:218","Xref__c":"OMIM:124200"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84665","Source__c":"C0022595; MONDO:0007417","Xref__c":"C84665"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=48611009","Source__c":"C0022595; MONDO:0007417","Xref__c":"48611009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007417","Source__c":"GARD:0006243","Xref__c":"MONDO:0007417"},{"URL__c":"https://medlineplus.gov/genetics/condition/darier-disease","Source__c":"GARD:0006243","Xref__c":"https://medlineplus.gov/genetics/condition/darier-disease"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATP2A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atp2a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001595","HPO_Synonym__c":"Abnormality of the hair; Hair abnormality","HPO_Name__c":"Abnormal hair morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000498","HPO_Synonym__c":"Cellulitis of eyelids; Inflammation of eyelids","HPO_Name__c":"Blepharitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200037","HPO_Name__c":"Skin vesicle","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200016","HPO_Synonym__c":"Acral keratosis","HPO_Name__c":"Acrokeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001097","HPO_Synonym__c":"Dry eyes; Keratitis sicca; Xerophthalmia","HPO_Name__c":"Keratoconjunctivitis sicca","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045059","HPO_Name__c":"Hyperkeratotic papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nails that easily break.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001808","HPO_Synonym__c":"Brittle nails","HPO_Name__c":"Fragile nails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010612","HPO_Name__c":"Plantar pits","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the pigmentation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001000","HPO_Synonym__c":"Abnormal pigmentation; Abnormal skin color; Abnormal skin pigmentation; Abnormality of pigmentation; Abnormality of skin pigmentation; Pigmentary changes; Pigmentary skin changes; Pigmentation anomaly","HPO_Name__c":"Abnormality of skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Frequent (30-79%)","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:218","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012733","HPO_Synonym__c":"Flat, discolored area of skin","HPO_Name__c":"Macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005212","HPO_Name__c":"Anal mucosal leukoplakia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031288","HPO_Name__c":"Cobblestone-like hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007302","HPO_Synonym__c":"Bipolar depression; Bipolar disorder; Manic depressive","HPO_Name__c":"Bipolar affective disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008410","HPO_Name__c":"Subungual hyperkeratotic fragments","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010610","HPO_Name__c":"Palmar pits","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Laminar thickening of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001072","HPO_Synonym__c":"Pachydermia; Thick skin; Thickened skin","HPO_Name__c":"Thickened skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001034","HPO_Synonym__c":"Hyperpigmented macules; Hyperpigmented spots","HPO_Name__c":"Hypermelanotic macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011859","HPO_Name__c":"Punctate keratitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:218","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A longitudinal red band extending from the proximal nail fold or lunula to the distal nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6001074","HPO_Name__c":"Longitudinal erythronychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["dar"," darier disease"," darier-white disease"," darier's disease"," dyskeratosis follicularis"," psorospermosis"," psorospermosis follicularis vegetans"]}