DiseaseID 2349
血色素沉着症
disease
CSP2006:disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary; full development of the disease in women is restricted b
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Disease: 1Herb: 3Symptom: 12Target: 24Links: 39
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2349
- Core Entity Id
- 2646
- Source Entity Count
- 1
- Preferred Name
- Hemochromatosis
- Name Cn
- 血色素沉着症
- Name Pinyin
- Xue Se Su Chen Zhuo Zheng
- Name En
- Hemochromatosis
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- CSP2006:disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary; full development of the disease in women is restricted by menstruation, pregnancy, and lower dietary intake of iron; an autosomal recessive disorder of metabolism associated with a gene tightly linked to the A locus of the HLA complex on chromosome 6.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hemochromatosis
Role
preferred
Name
Hemochromatosis Type 4
Role
preferred
Name
Hemochromatosis, Type 1
Role
preferred
Name
Symptomatic Form Of Hemochromatosis Type 1
Role
preferred
Name
HEMOCHROMATOSIS, TYPE 4
Role
preferred
Name
Hemochromatosis Type 2
Role
preferred
Name
Hemochromatosis, Type 2A
Role
preferred
Name
Hereditary Hemochromatosis
Role
preferred
Name
Iron Metabolism Disorders
Role
preferred
Name
Iron Overload, Autosomal Dominant
Role
preferred
Name
Juvenile Hemochromatosis
Role
preferred
Name
Neonatal Hemochromatosis
Role
preferred
Name
African Iron Overload
Role
alias
Name
Autosomal Dominant Hereditary Hemochromatosis
Role
alias
Name
Disorders of Iron Metabolism
Role
alias
Name
Familial Hemochromatosis
Role
alias
Name
Ferroportin Disease
Role
alias
Name
HEMOCHROMATOSIS, HEREDITARY
Role
alias
Name
HFE
Role
alias
Name
HFE1
Role
alias
Name
HH
Role
alias
Name
Hemochromatosis Due To Defect In Ferroportin
Role
alias
Name
Hemochromatosis Type 1
Role
alias
Name
Hemochromatosis Type 2A
Role
alias
Name
Hemochromatosis Type 5
Role
alias
Name
Hemochromatosis, Juvenile
Role
alias
Name
Hemochromatosis, Neonatal
Role
alias
Name
Iron Metabolism Disease
Role
alias
Name
Symptomatic Form Of Classic Hemochromatosis
Role
alias
Name
Symptomatic Form Of HFE-related Hereditary Hemochromatosis
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS000806HBDIS001303HBDIS006164HBDIS006165HBDIS008623HBDIS016792HBDIS016980HBDIS021410HBDIS029030
Me Sh
D006432D019189
Omim
231100235200602390606069615517
Umls
C0018995C0268060C0392514C1853733C1865614C3469186
Icd10
E83.1E83.11E83.110E83.119
Sym Map
SMDE01788SMDE02207SMDE02413SMDE03068SMDE03242SMDE09326
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0012715C0018995C0268059C0268060C0392514C1851316C1853733C1865614C3469186
Orphanet
13949146550879230
Umls Sty
T047
Me Sh Class
C16C18
Etcm Disease
Hemochromatosis Type 2Hemochromatosis, Type 1Hemochromatosis, Type 2aHemochromatosis, Type 4
Tcmbank Disease
157441625516924214552327426322963038356460
Itcmdb Generated
ITX-DISEASE-4E7EB0A18171ITX-DISEASE-67E56515E978ITX-DISEASE-8FEBCE672988ITX-DISEASE-B88E27877366ITX-DISEASE-E35A63446C48ITX-DISEASE-E73DAF3B76F2
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Hemochromatosis Type 2 Details pageDisease Hemochromatosis, Type 1 Details pageDisease Hemochromatosis, Type 2a Details pageDisease Hemochromatosis, Type 4 Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
diseasegroup
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Hemochromatosis Type 2
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Endocrine diseases;Liver diseases;Skin diseases
Disease Name
Hemochromatosis, Type 1
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Endocrine diseases;Liver diseases;Skin diseases
Disease Name
Hemochromatosis, Type 2a
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Endocrine diseases;Liver diseases;Skin diseases
Disease Name
Hemochromatosis, Type 4
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Endocrine diseases;Liver diseases;Skin diseases
Disease Definition
CSP2006:disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary; full development of the disease in women is restricted by menstruation, pregnancy, and lower dietary intake of iron; an autosomal recessive disorder of metabolism associated with a gene tightly linked to the A locus of the HLA complex on chromosome 6.Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of geneNCI2016_NCI-GLOSS_1602D:A condition in which the body takes up and stores more iron than it needs. The extra iron is stored in the liver, heart, and pancreas, which may cause liver disease, heart problems, organ failure, and cancer. It may also cause bronze skin, diabetes, pain in the joints and abdomen, tiredness, and impotence. Hemochromatosis may be inherited, or it may be caused by blood transfusions.|NCI2016_02D:An inherited metabolic disorder characterized by iron accumulation in the tissues.|MSH2017_2016_08_12:A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)|MEDLINEPLUS_20151021:<p>Hemochromatosis is a disease in which too much <a href='https://www.nlm.nih.gov/medlineplus/iron.html'>iron</a> builds up in your body. Your body needs iron but too much of it is toxic. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart, and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail.</p> <p>There are two types of hemochromatosis. Primary hemochromatosis is an inherited disease. Secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions.</p> <p>Many symptoms of hemochromatosis are similar to those of other diseases. Not everyone has symptoms. If you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain.</p> <p>Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. Treatments include removing blood (and iron) from your body, medicines, and changes in your diet.</p> <p >NIH: National Heart, Lung, and Blood Institute</p>|CSP2006:condition in which there is a deviation or interruption in the storage of iron in the body.|AIR93:WHAT: Hemochromatosis: Hemochromatosis: a disorder of iron metabolism characterized by excess deposition of iron in the tissues, especially the liver. It is characterized by pigmentation of the skin, hepatic cirrhosis, decreased carbohydrate tolerance, cardiomyopathy and endocrinopathy (especially hypogonadism). Mainly seen in men over the age of 40 years. It has an associated arthropathy distinguished by involvement of the metacarpophalangeal joints (particularly the second and third), wrists, knees, shoulders, and hips. There is often an associated chondrocalcinosis. WHY: Hemochromatosis is an autosomal recessive disease that produces an arthritis similar to osteoarthritis or pseudogout. HOW: Hemochromatosis is diagnosed by the typical physical and radiographic findings supported by elevated serum iron concentrations and high transferrin saturations. Serum ferritin is also markedly elevated. Confirmation of the diagnosis can be done by demonstrating hepatic iron deposition on liver biopsy.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
Dis Ge Net Disease Type
diseasegroup
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome