DiseaseID 17573

葡萄糖-6-磷酸脱氢酶缺乏症

disease

NCI2016_02D:An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolyti

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Disease: 1Symptom: 4Target: 11Links: 15
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Record Fields

Scalar fields from the final disease record.

Disease Id
17573
Core Entity Id
75832
Source Entity Count
1
Preferred Name
Deficiency of Glucose-6-Phosphate Dehydrogenase
Name Cn
葡萄糖-6-磷酸脱氢酶缺乏症
Name Pinyin
Pu Tao Tang -6- Lin Suan Tuo Qing Mei Que Fa Zheng
Name En
Deficiency of Glucose-6-Phosphate Dehydrogenase
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 Diseases; Hemic and Lymphatic Diseases
Do Class
genetic disease; disease of metabolism
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
Hpo Class Name
Do Class Name
disease of metabolism; genetic disease
Disease Definition
NCI2016_02D:An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.|MSH2017_2016_08_12:A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.|MEDLINEPLUS_20151021:<p>Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them.</p> <p>If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include</p> <ul> <li>Paleness</li> <li>Jaundice</li> <li>Dark urine</li> <li>Fatigue</li> <li>Shortness of breath</li> <li>Enlarged spleen</li> <li>Rapid heart rate</li> </ul> <p>A blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions.</p> <p >NIH: National Library of Medicine</p>|CSP2006:common hereditary enzyme deficiency causing varying degrees of hemolytic anemia; can cause favism, some drug induced hemolytic anemias, and chronic nonspherocytic hemolytic anemia.
Version
v2
Suppressed
No

Names

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

Name
Deficiency of Glucose-6-Phosphate Dehydrogenase
Role
preferred
Name
Deficiency of Glucose 6 Phosphate Dehydrogenase
Role
alias
Name
Glucosephosphate Dehydrogenase Deficiency
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS020487
Me Sh
D005955
Umls
C2939465
Sym Map
SMDE07753
Do Class
DOID:0014667DOID:630
Dis Ge Net
C2939465
Umls Sty
T047
Me Sh Class
C15C16C18
Tcmbank Disease
16288

Attributes

Merged source attributes and domain-specific metadata.

Version
v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.|MSH2017_2016_08_12:A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.|MEDLINEPLUS_20151021:<p>Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them.</p> <p>If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include</p> <ul> <li>Paleness</li> <li>Jaundice</li> <li>Dark urine</li> <li>Fatigue</li> <li>Shortness of breath</li> <li>Enlarged spleen</li> <li>Rapid heart rate</li> </ul> <p>A blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions.</p> <p >NIH: National Library of Medicine</p>|CSP2006:common hereditary enzyme deficiency causing varying degrees of hemolytic anemia; can cause favism, some drug induced hemolytic anemias, and chronic nonspherocytic hemolytic anemia.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome