DiseaseID 4958

卟啉代谢障碍

group

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Disease: 1Symptom: 12Target: 12Links: 24

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Record Fields

Scalar fields from the final disease record.

Disease Id: 4958
Core Entity Id: 61386
Source Entity Count: 1
Preferred Name: Disorders of Porphyrin Metabolism
Name Cn: 卟啉代谢障碍
Name Pinyin: Bu Lin Dai Xie Zhang Ai
Name En: Disorders of Porphyrin Metabolism
Name Latin
Bilingual Status: complete
Disease Type: group
Umls Disease Type: Disease or Syndrome
Disgenet Type: group
Mesh Class: Nutritional and Metabolic Diseases
Do Class: genetic disease; disease of metabolism
Hpo Class
Mesh Class Name: Nutritional and Metabolic Diseases
Hpo Class Name
Do Class Name: disease of metabolism; genetic disease
Disease Definition: NCI2016_02D:A group of genetic or acquired metabolic disorders characterized by defects in the enzymes that are involved in the heme synthesis.|MSH2017_2016_08_12:A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.|MEDLINEPLUS_20151021:Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. There are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go. Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks. Porphyria can be hard to diagnose. It requires blood, urine, and stool tests. Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized. NIH: National Institute of Diabetes and Digestive and Kidney Diseases|CSP2006:group of disorders characterized by the excessive production of porphyrins or their precursors that arises from abnormalities in the regulation of the porphyrin-heme pathway; acquired porphyrias, which are due to inhibition of enzymes in the metabolic pathway by a drug, toxin or abnormal metabolite, are more common than those which are inherited.|CHV2011_02:a disease characterized by the presence of large amounts of porphyrins in the blood and urine|CHV2011_02:a disease characterized by the presence of large amounts of porphyrins in the blood and urine|CHV2011_02:a disease characterized by the presence of large amounts of porphyrins in the blood and urine|CHV2011_02:a disease characterized by the presence of large amounts of porphyrins in the blood and urine
Version: v2
Suppressed: No

Names

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

Name

Disorders of Porphyrin Metabolism

Role

preferred

Name

Porphyria

Role

alias

Name

Porphyrias

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Herb

HBDIS002448

Me Sh

D011164

Umls

C0032708

Icd10

E80.20

Sym Map

SMDE07986

Do Class

DOID:0014667DOID:630

Dis Ge Net

C0032708

Umls Sty

T047

Me Sh Class

C18

Tcmbank Disease

10366

Attributes

Merged source attributes and domain-specific metadata.

Version

Suppress

Do Class Name

disease of metabolism; genetic disease

Disease Type

group

Do Disease Class

genetic disease; disease of metabolism

Umls Disease Type

Disease or Syndrome

Disease Definition

NCI2016_02D:A group of genetic or acquired metabolic disorders characterized by defects in the enzymes that are involved in the heme synthesis.|MSH2017_2016_08_12:A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.|MEDLINEPLUS_20151021:Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. There are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go. Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks. Porphyria can be hard to diagnose. It requires blood, urine, and stool tests. Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized. NIH: National Institute of Diabetes and Digestive and Kidney Diseases|CSP2006:group of disorders characterized by the excessive production of porphyrins or their precursors that arises from abnormalities in the regulation of the porphyrin-heme pathway; acquired porphyrias, which are due to inhibition of enzymes in the metabolic pathway by a drug, toxin or abnormal metabolite, are more common than those which are inherited.|CHV2011_02:a disease characterized by the presence of large amounts of porphyrins in the blood and urine|CHV2011_02:a disease characterized by the presence of large amounts of porphyrins in the blood and urine|CHV2011_02:a disease characterized by the presence of large amounts of porphyrins in the blood and urine|CHV2011_02:a disease characterized by the presence of large amounts of porphyrins in the blood and urine

Me Sh Disease Class

Nutritional and Metabolic Diseases

Dis Ge Net Disease Type

group

Disease Class Name Me Sh

Nutritional and Metabolic Diseases

Umls Semantic Type Name

Disease or Syndrome