DiseaseID 1630

肥大细胞瘤

disease

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Disease: 1Experiment: 3Herb: 4Symptom: 12Target: 25Links: 44

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Record Fields

Scalar fields from the final disease record.

Disease Id: 1630
Core Entity Id: 1834
Source Entity Count: 1
Preferred Name: Mastocytoma
Name Cn: 肥大细胞瘤
Name Pinyin: Fei Da Xi Bao Liu
Name En: Mastocytoma
Name Latin
Bilingual Status: complete
Disease Type: disease
Umls Disease Type: Disease or Syndrome
Disgenet Type: disease
Mesh Class: Cardiovascular Diseases; Skin and Connective Tissue Diseases; NeoplasmsHemic and Lymphatic DiseasesImmune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesImmune System Diseases; NeoplasmsNeoplasmsSkin and Connective Tissue Diseases; Immune System Diseases; NeoplasmsSkin and Connective Tissue Diseases; Neoplasms
Do Class: disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationgenetic disease
Hpo Class: Abnormality of the immune system; Abnormality of blood and blood-forming tissuesAbnormality of the immune system; Abnormality of blood and blood-forming tissues; NeoplasmAbnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues; Abnormality of the integumentAbnormality of the integument; Abnormality of the cardiovascular system
Mesh Class Name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System DiseasesHemic and Lymphatic DiseasesNeoplasmsNeoplasms; Immune System DiseasesNeoplasms; Skin and Connective Tissue DiseasesNeoplasms; Skin and Connective Tissue Diseases; Immune System Diseases
Hpo Class Name: Abnormality of the immune system; Abnormality of blood and blood-forming tissuesAbnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissuesAbnormality of the integument; Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues
Do Class Name: disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationgenetic disease
Disease Definition: Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic e
Version: v1
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Mastocytoma

Role

preferred

Name

Benign Mastocytoma

Role

preferred

Name

Bloom Syndrome

Role

preferred

Name

Bullous Diffuse Cutaneous Mastocytosis

Role

preferred

Name

Cutaneous Mastocytoma

Role

preferred

Name

Cutaneous Mastocytosis

Role

preferred

Name

Indolent Systemic Mastocytosis

Role

preferred

Name

Mast Cell Disease

Role

preferred

Name

Mast Cell Neoplasm

Role

preferred

Name

Mastocytosis, Diffuse Cutaneous

Role

preferred

Name

Mastocytosis, Systemic

Role

preferred

Name

Urticaria Pigmentosa

Role

preferred

Name

21); Acute Myeloblastic Leukemia With T(8

Role

preferred

Name

Acute Myeloid Leukemia (AML-M2)

Role

preferred

Name

Acute Myeloid Leukemia, M1

Role

preferred

Name

Acute Myeloid Leukemia, Minimal Differentiation

Role

preferred

Name

Aggressive Systemic Mastocytosis

Role

preferred

Name

Isolated Bone Marrow Mastocytosis

Role

preferred

Name

LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO

Role

preferred

Name

Leukemia, Mast-Cell

Role

preferred

Name

Leukemia, Myelocytic, Acute

Role

preferred

Name

MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC

Role

preferred

Name

MASTOCYTOSIS, INDOLENT

Role

preferred

Name

MASTOCYTOSIS, SYSTEMIC, SOMATIC

Role

preferred

Name

Mastocytosis

Role

preferred

Name

Mastocytosis, Bullous

Role

preferred

Name

Refractory Anemia With Excess Blasts In Transformation (Clinical)

Role

preferred

Name

Skin Mastocytoma

Role

preferred

Name

Smoldering Systemic Mastocytosis

Role

preferred

Name

Telangiectasia Macularis Eruptiva Perstans

Role

preferred

Name

Acute Myeloblastic Leukemia

Role

alias

Name

Acute Myelocytic Leukemia

Role

alias

Name

Acute Myelogenous Leukemia

Role

alias

Name

Acute Myeloid Leukaemia

Role

alias

Name

Acute Myeloid Leukemia

Role

alias

Name

BLM

Role

alias

Name

BLS

Role

alias

Name

Role

alias

Name

BSyn

Role

alias

Name

Bullous DCM

Role

alias

Name

Cutaneous Local Mastocytoma

Role

alias

Name

Diffuse Cutaneous Mastocytosis

Role

alias

Name

Extracutaneous Mastocytoma

Role

alias

Name

Leukemia, Acute Myeloid

Role

alias

Name

Leukemia, Myeloid, Acute

Role

alias

Name

Leukemia, Myeloid, Acute, M1

Role

alias

Name

Leukemia, Myeloid, Acute, M2

Role

alias

Name

Mast Cell Leukaemia

Role

alias

Name

Mast Cell Leukemia

Role

alias

Name

Mastocytoma, Skin

Role

alias

Name

Mastocytosis, Cutaneous

Role

alias

Name

Multiple Mastocytoma

Role

alias

Name

Refractory Anaemia With Excess of Blasts With Transformation

Role

alias

Name

Solitary Mastocytoma

Role

alias

Name

Systemic Mastocytosis

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Hpo

HP:0004808HP:0007583HP:0100495HP:0200151

Herb

HBDIS000356HBDIS001705HBDIS001710HBDIS001864HBDIS001865HBDIS001866HBDIS001867HBDIS002022HBDIS003068HBDIS004550HBDIS005569HBDIS006737HBDIS007148HBDIS007629HBDIS008132HBDIS009934HBDIS012664HBDIS012697HBDIS018522HBDIS019042HBDIS020052HBDIS021102HBDIS022900HBDIS026741HBDIS028135HBDIS028140HBDIS028141

Me Sh

D001816D007946D008415D014582D015470D034701D034721D034801D054705

Omim

154800210900601626

Umls

C0005859C0024899C0024901C0042111C0221013C0272203C0334664C0343115C1112486C1136033C2242987

Icd10

C92.0C92.00C94.3D46.3D47.0Q82.2

Sym Map

SMDE02769SMDE04055SMDE04300SMDE04301SMDE05638SMDE06359SMDE07677SMDE09826SMDE10398SMDE10738SMDE10742SMDE10743SMDE10744SMDE14136

Do Class

DOID:14566DOID:630DOID:7

Dis Ge Net

C0005859C0023461C0023467C0024897C0024899C0024900C0024901C0026998C0042111C0221013C0263402C0272203C0280028C0334664C0343115C0522631C1112486C1136033C1879321C2242987C2854122C3275959C3897042C4509020C4749053C4749139C4749142

Orphanet

12528078579455

Umls Sty

T033T047T191

Hpo Class

HP:0001574HP:0001626HP:0001871HP:0002664HP:0002715

Me Sh Class

C04C14C15C16C17C18C20

Etcm Disease

Aggressive Systemic MastocytosisBloom SyndromeBullous Diffuse Cutaneous MastocytosisCutaneous MastocytomaIndolent Systemic Mastocytosis

Tcmbank Disease

100821104113065131811592116695169381778719039195512013320525211962221123192257562683927330312643519362145904640517861948601

Itcmdb Generated

ITX-DISEASE-04E8B9494385ITX-DISEASE-05A8796190A9ITX-DISEASE-1877940BD32FITX-DISEASE-4600F94D6C9FITX-DISEASE-4F964F44F796ITX-DISEASE-5FFCD6D47C6AITX-DISEASE-61FFE978E568ITX-DISEASE-83E1467D05E2ITX-DISEASE-A69EBA3D23ECITX-DISEASE-C0A6A05D09A7ITX-DISEASE-D10D5BBE47EDITX-DISEASE-D77609DA9A52

Attributes

Merged source attributes and domain-specific metadata.

Version

v1v1,v2v2

Suppress

Page Title

Disease Aggressive Systemic Mastocytosis Details pageDisease Bloom Syndrome Details pageDisease Bullous Diffuse Cutaneous Mastocytosis Details pageDisease Cutaneous Mastocytoma Details pageDisease Indolent Systemic Mastocytosis Details page

Do Class Name

disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationgenetic disease

Disease Type

diseasephenotype

Hpo Class Name

Abnormality of the immune system; Abnormality of blood and blood-forming tissuesAbnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissuesAbnormality of the integument; Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues

Do Disease Class

disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationgenetic disease

Hpo Disease Class

Abnormality of the immune system; Abnormality of blood and blood-forming tissuesAbnormality of the immune system; Abnormality of blood and blood-forming tissues; NeoplasmAbnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues; Abnormality of the integumentAbnormality of the integument; Abnormality of the cardiovascular system

Umls Disease Type

Disease or SyndromeFindingNeoplastic Process

Basic Information

Disease Name

Aggressive Systemic Mastocytosis

Global Category

Rare diseases

Anatomical Category

Blood diseases;Immune diseases

Disease Name

Bloom Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Blood diseases;Skin diseases

Disease Name

Bullous Diffuse Cutaneous Mastocytosis

Global Category

Rare diseases

Anatomical Category

Blood diseases;Skin diseases

Disease Name

Cutaneous Mastocytoma

Global Category

Rare diseases

Anatomical Category

Blood diseases;Skin diseases

Disease Name

Indolent Systemic Mastocytosis

Global Category

Rare diseases

Anatomical Category

Blood diseases

Disease Definition

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic eBullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumCutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated wiNCI2016_02D:A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.|MSH2017_2016_08_12:A heterogenous group of disorders characterized by the abnormal increase of MAST CELLS in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA).|HPO2016_07_04:The presence of an increased number of mast cells and CD34+ mast cell precursors in the body. [HPO:sdoelken]|CSP2006:rare disease characterized by an abnormal increase in mast cells in the bone marrow, liver, spleen, lymph nodes, gastrointestinal tract, and skin.NCI2016_02D:A form of mastocytosis characterized by mast cell infiltration of the skin. (WHO, 2001)|MSH2017_2016_08_12:Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN.|HPO2016_07_04:Multifocal dense infiltrates of mast cells in cutaneous tissue. [] {comment="HPO:probinson", comment="PMID:21668033"}NCI2016_02D:A variant of cutaneous mastocytosis which is seen almost exclusively in children. (WHO, 2001) -- 2003|MSH2017_2016_08_12:A form of cutaneous mastocytosis that is characterized by a diffuse erythrodermic rash rather than the maculopapular infiltrates seen in URTICARIA PIGMENTOSA.NCI2016_02D:An indolent mast cell neoplasm characterized by systemic infiltration of skin and internal organs by aggregates of neoplastic mast cells. There is no evidence of mast cell leukemia or clonal hematologic malignancy. Clinically, there is no evidence of palpable hepatomegaly and splenomegaly, malabsorption syndrome, or pathologic fractures.|MSH2017_2016_08_12:A form of systemic mastocytosis in which patients experience no pain. It is characterized by the multifocal mast cell filtrates, mostly in skin and bone marrow (<20% MAST CELLS). It has a low cytomorphological grade.NCI2016_02D:The most frequent form of cutaneous mastocytosis. In children, the lesions tend to be papular, and are characterized by aggregates of elongated or spindle-shaped mast cells which fill the papillary dermis and extend into the reticular dermis. In adults, the lesions tend to have fewer mast cells compared to those in children. The lesions are located most commonly on the trunk, but they can be seen on the extremities, head and neck. (WHO, 2001)|MSH2017_2016_08_12:The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules.|CSP2006:most common form of mastocytosis, characterized by multiple persistant small reddish brown hyperpigmented pruritic macules and papules.NCI2016_CDISC_1602D:A benign neoplasm composed of mast cells.|NCI2016_02D:A localized mast cell neoplasm without metastatic potential.|MSH2017_2016_08_12:A solid tumor consisting of a dense infiltration of MAST CELLS. It is generally benign.NCI2016_NCI-GLOSS_1602D:A growth or lump of mast cells (a type of white blood cell). Mast cell tumors can involve the skin, subcutaneous tissue, and muscle tissue.|NCI2016_CDISC_1602D:A neoplasm composed of mast cells, for which the malignancy status has not been determined.|NCI2016_02D:A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)|CSP2006:nodular cutaneous mast cell infiltrate, which is usually present at birth or soon after as a solitary nodule, although three to four lesions may occur; lesions typical of urticaria pigmentosa may occur later.NCI2016_NCI-GLOSS_1602D:A rare disease in which too many mast cells (a type of immune system cell) are found in the skin, bones, joints, lymph nodes, liver, spleen, and gastrointestinal tract. Mast cells give off chemicals such as histamine that can cause flushing (a hot, red face), itching, abdominal cramps, muscle pain, nausea, vomiting, diarrhea, low blood pressure, and shock.|NCI2016_02D:A variant of mastocytosis characterized by multifocal, dense infiltrates of mast cells (15 or more mast cells in aggregates) detected in the bone marrow and/or other extracutaneous sites. (WHO, 2001) -- 2003|MSH2017_2016_08_12:A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis.NCI2016_NICHD_1602D:A rapidly progressive cancer of the blood and bone marrow consisting of the proliferation of abnormal myeloblasts, which are immature, dysfunctional white blood cells.|NCI2016_NCI-GLOSS_1602D:An aggressive (fast-growing) disease in which too many myeloblasts (immature white blood cells that are not lymphoblasts) are found in the bone marrow and blood.|NCI2016_02D:Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.|NCI2016_02D:A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent genetic abnormalities; 2) AML with multilineage dysplasia; 3) Therapy-related AML; 4) AML not otherwise categorized. The required bone marrow or peripheral blood blast percentage for the diagnosis of AML is 20% (WHO classification).|MSH2017_2016_08_12:Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.|MEDLINEPLUS_20151021:<a href='https://www.nlm.nih.gov/medlineplus/leukemia.html'>Leukemia</a> is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, however, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In acute myeloid leukemia (AML), there are too many of a specific type of white blood cell called a myeloblast. AML is the most common type of acute leukemia in adults. This type of cancer usually gets worse quickly if it is not treated. Possible risk factors include smoking, previous chemotherapy treatment, and exposure to radiation. Symptoms of AML include: <ul> <li>Fever</li> <li>Shortness of breath</li> <li>Easy bruising or bleeding</li> <li>Bleeding under the skin</li> <li>Weakness or feeling tired</li> <li>Weight loss or loss of appetite</li> </ul> Tests that examine the blood and bone marrow diagnose AML. Treatments include chemotherapy, other drugs, radiation therapy, stem cell transplants, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. Once the leukemia is in remission, you need additional treatment to make sure that it does not come back. NIH: National Cancer Institute|HPO2016_07_04:A form of leukemia characterized by overproduction of an early myeloid cell. [HPO:probinson]|CSP2006:leukemia commonly occurring after alkylating agent treatment; manifestations include pancytopenia, megaloblastic bone marrow, and nucleated red cells in peripheral marrow; patients usually have chromosomal abnormalities in marrow cells.|CSP2006:acute leukemia arising from myeloid tissue in which the granular, polymorphonuclear leukocytes and their precursors predominate.SNOMEDCT_US_2016_09_01:A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn't usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years.|NCI2016_02D:An aggressive and progressive mast cell neoplasm characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells. There is no evidence of mast cell leukemia or clonal hematologic malignancy. Clinical symptoms include hepatomegaly, splenomegaly, portal hypertension, malabsorption syndrome, and pathologic fractures.|MSH2017_2016_08_12:A form of systemic mastocytosis in which patients have impaired organ functions due to multifocal infiltrates of pathological MAST CELLS in bone marrow, liver, spleen, gastrointestinal tract, or skeletal system. The cytomorphology shows a low to high grade.

Me Sh Disease Class

Cardiovascular Diseases; Skin and Connective Tissue Diseases; NeoplasmsHemic and Lymphatic DiseasesImmune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesImmune System Diseases; NeoplasmsNeoplasmsSkin and Connective Tissue Diseases; Immune System Diseases; NeoplasmsSkin and Connective Tissue Diseases; Neoplasms

Dis Ge Net Disease Type

diseasephenotype

Disease Class Name Me Sh

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System DiseasesHemic and Lymphatic DiseasesNeoplasmsNeoplasms; Immune System DiseasesNeoplasms; Skin and Connective Tissue DiseasesNeoplasms; Skin and Connective Tissue Diseases; Immune System Diseases

Umls Semantic Type Name

Disease or SyndromeFindingNeoplastic Process