{"Name":"Diffuse cutaneous mastocytosis","DiseaseID__c":"GARD:0012686","id":12686,"encodedName":"diffuse-cutaneous-mastocytosis","IsDeleted":false,"Disease_Name_Full__c":"Diffuse cutaneous mastocytosis","Xref_IDs__c":"703826004; C0024901; C3218; DOID:3665; MEDGEN:44303; MONDO:0019315; ORPHA:79456","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019315","Disease_Description__c":"Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term).","GARD_Name__c":"Diffuse cutaneous mastocytosis","GARD_Synonym__c":"dcm; diffuse cutaneous maculopapulous mastocytosis","Curated_Disease_Description_Source__c":"MONDO:0019315","Curated_Disease_Description__c":"Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a \"peau d'orange\" appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79456","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019315","ORPHANET_ID__c":"ORPHA:79456","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Mastocitosis cutánea difusa","Spanish_Description_Source__c":"ORPHA:79456","Spanish_Description__c":"La mastocitosis cutánea difusa (MCD) es una forma poco frecuente de mastocitosis cutánea (MC) caracterizada por eritrodermia generalizada, ampollas de varios grados, piel con aspecto en \"piel de naranja\" y acúmulo de mastocitos en la piel. Se reconocen al menos dos variantes de MCD, una con ampollas extremas (MCD ampollosa) y otra con infiltraciones (MCD pseudoxantomatosa).","Spanish_Disease_Name__c":"mastocitosis cutánea difusa","Spanish_GARD_Synonym__c":"dcm; mastocitosis maculopapular cutánea difusa","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":"Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a \"peau d'orange\" appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).","Curated_Disease_Description_Source__c":"MONDO:0019315","GARD_Synonym__c":"dcm; diffuse cutaneous maculopapulous mastocytosis","Name":"Diffuse cutaneous mastocytosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Mast Cell Disease Society","Website__c":"https://tmsforacure.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79456"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79456"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0024901"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3665","Source__c":"MONDO:0019315","Xref__c":"DOID:3665"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3218","Source__c":"C0024901; MONDO:0019315","Xref__c":"C3218"},{"URL__c":"https://www.orpha.net/en/disease/detail/79456","Source__c":"C0024901; MONDO:0019315; ORPHA:79456","Xref__c":"ORPHA:79456"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=44303","Source__c":"C0024901","Xref__c":"MEDGEN:44303"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0024901","Source__c":"C0024901","Xref__c":"C0024901"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019315","Source__c":"GARD:0012686","Xref__c":"MONDO:0019315"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703826004","Source__c":"C0024901","Xref__c":"703826004"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200041","HPO_Name__c":"Skin erosion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031284","HPO_Name__c":"Flushing","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040189","HPO_Synonym__c":"Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin","HPO_Name__c":"Scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increase in the number or proportion of lymphocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100827","HPO_Synonym__c":"High lymphocyte count; Lymphocytosis","HPO_Name__c":"Increased total lymphocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011971","HPO_Synonym__c":"Dermatographism; Dermographism; Skin writing","HPO_Name__c":"Dermatographic urticaria","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001019","HPO_Synonym__c":"Exfoliative dermititis; Generalized erythroderma; Generalized erythrodermia","HPO_Name__c":"Erythroderma","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A high-pitched whistling sound associated with labored breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030828","HPO_Synonym__c":"Wheezing","HPO_Name__c":"Wheezing","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009123","HPO_Name__c":"Mixed hypo- and hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An acute hypersensitivity reaction due to exposure to a previously encountered antigen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100845","HPO_Synonym__c":"Anaphylactic reaction; Anaphylactoid-type reaction; Anaphylaxis","HPO_Name__c":"Anaphylactic shock","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An anomaly of the form or number of cells in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005561","HPO_Synonym__c":"Abnormality of bone marrow cell morphology; Anomaly of the bone marrow cells","HPO_Name__c":"Abnormal bone marrow cell morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001392","HPO_Synonym__c":"Abnormal liver; Abnormality of the liver; Liver abnormality","HPO_Name__c":"Abnormality of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025533","HPO_Name__c":"Peau d'orange","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","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:79456","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025081","HPO_Name__c":"Darier's sign","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","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:79456","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin that is not localized to any one particular region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011354","HPO_Synonym__c":"Generalised abnormality of skin; Generalized abnormality of skin","HPO_Name__c":"Generalized abnormality of skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005547","HPO_Name__c":"Myeloproliferative disorder","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001025","HPO_Synonym__c":"Hives","HPO_Name__c":"Urticaria","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001743","HPO_Synonym__c":"Abnormality of the spleen","HPO_Name__c":"Abnormality of the spleen","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency in the intake of energy and nutrients.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004395","HPO_Synonym__c":"Malnutrition","HPO_Name__c":"Malnutrition","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79456","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031901","HPO_Name__c":"Elevated total serum tryptase","HPO_Feature_Type__c":"Lab"}}],"tags":{"Specialist":["Cancer - Oncologist","Dermatology","Hematology","Pediatrics"],"Disease Category":["Cancer","Dermatology","Hematology"],"Account":["Dermatology"]},"synonyms":["dcm"," diffuse cutaneous maculopapulous mastocytosis"]}