DiseaseID 4265
高胰岛素血症
disease
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detec
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Disease: 1Formula: 12Herb: 2Symptom: 12Target: 24Links: 50
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4265
- Core Entity Id
- 60588
- Source Entity Count
- 1
- Preferred Name
- Hyperinsulinism
- Name Cn
- 高胰岛素血症
- Name Pinyin
- Gao Yi Dao Su Xue Zheng
- Name En
- Hyperinsulinism
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsNutritional and Metabolic Diseases
- Do Class
- disease of anatomical entity; disease of metabolismgenetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasis; Abnormality of the endocrine system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis; Abnormality of the endocrine system
- Do Class Name
- disease of metabolism; disease of anatomical entitydisease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entity
- Disease Definition
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detec
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hyperinsulinism
Role
preferred
Name
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Role
preferred
Name
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Role
preferred
Name
Congenital Hyperinsulinism
Role
preferred
Name
Hyperinsulinemic Hypoglycemia, Familial, 1
Role
preferred
Name
Hyperinsulinemic Hypoglycemia, Familial, 2
Role
preferred
Name
Hyperinsulinism Due To Hnf1A Deficiency
Role
preferred
Name
Hyperinsulinism Due To Hnf4A Deficiency
Role
preferred
Name
Hyperinsulinism Due To Ucp2 Deficiency
Role
preferred
Name
Nesidioblastosis
Role
preferred
Name
Compensatory Hyperinsulinemia
Role
preferred
Name
Endogenous Hyperinsulinism
Role
preferred
Name
Exogenous Hyperinsulinism
Role
preferred
Name
Hyperinsulinism Due To Glucokinase Deficiency
Role
preferred
Name
Hyperinsulinism Due To Insr Deficiency
Role
preferred
Name
Hyperplasia of Pancreatic Islet Beta Cell
Role
preferred
Name
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency
Role
alias
Name
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To SUR1 Deficiency
Role
alias
Name
Dominant KATP Hyperinsulinism Due To Kir6.2 Deficiency
Role
alias
Name
Elevated Insulin Level
Role
alias
Name
Familial Hyperinsulinemic Hypoglycemia 1
Role
alias
Name
Familial Hyperinsulinemic Hypoglycemia 2
Role
alias
Name
HHF1
Role
alias
Name
HHF2
Role
alias
Name
HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
Role
alias
Name
HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT
Role
alias
Name
HYPERINSULINISM, CONGENITAL
Role
alias
Name
HYPERINSULINISM, FAMILIAL
Role
alias
Name
HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
Role
alias
Name
HYPERINSULINISM, NEONATAL
Role
alias
Name
HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
Role
alias
Name
Hyperinsulinemia
Role
alias
Name
Hyperinsulinemic Hypoglycemia
Role
alias
Name
Hyperinsulinemic Hypoglycemia Due To HNF1A Deficiency
Role
alias
Name
Hyperinsulinemic Hypoglycemia Due To HNF4A Deficiency
Role
alias
Name
Hyperinsulinemic Hypoglycemia Due To UCP2 Deficiency
Role
alias
Name
NESIDIOBLASTOSIS OF PANCREAS
Role
alias
Name
PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
Role
alias
Name
PHHI
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000842
Herb
HBDIS001434HBDIS002101HBDIS006649HBDIS012821HBDIS012822HBDIS012823HBDIS020362HBDIS020363HBDIS022770HBDIS025895HBDIS025897HBDIS025898HBDIS026157
Me Sh
D006946D044903D046768
Omim
256450601820
Umls
C0020459C0027773C2931832C2931833C3888018
Icd10
E16.1E16.9
Sym Map
SMDE00697SMDE01597SMDE02854SMDE03241SMDE03814SMDE04233SMDE04286SMDE04379SMDE05107SMDE07460SMDE09616SMDE11395
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0020459C0027773C0271706C1257963C1257964C1257965C2931832C2931833C3888018C4274078C4274080C4274081C4303475
Orphanet
26345526345827655627657527658032457579299
Umls Sty
T047
Hpo Class
HP:0000818HP:0001939
Me Sh Class
C06C16C18C23
Etcm Disease
Hyperinsulinemic Hypoglycemia, Familial, 1Hyperinsulinemic Hypoglycemia, Familial, 2Hyperinsulinism Due to Hnf1a DeficiencyHyperinsulinism Due to Hnf4a DeficiencyHyperinsulinism Due to Ucp2 Deficiency
Tcmbank Disease
1016811768147171736718865226726531295003072831615323153249837375835
Itcmdb Generated
ITX-DISEASE-0C4244E6DCF3ITX-DISEASE-7E456B49C364ITX-DISEASE-861024CEBCEAITX-DISEASE-8DDAA9ACB49CITX-DISEASE-A428204760ABITX-DISEASE-AC2585E78DF2ITX-DISEASE-B4605162C089ITX-DISEASE-F202D03EF4D9ITX-DISEASE-F9E5F751738EITX-DISEASE-FF131D280A06
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Hyperinsulinemic Hypoglycemia, Familial, 1 Details pageDisease Hyperinsulinemic Hypoglycemia, Familial, 2 Details pageDisease Hyperinsulinism Due to Hnf1a Deficiency Details pageDisease Hyperinsulinism Due to Hnf4a Deficiency Details pageDisease Hyperinsulinism Due to Ucp2 Deficiency Details page
Do Class Name
disease of metabolism; disease of anatomical entitydisease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of metabolism/homeostasis; Abnormality of the endocrine system
Do Disease Class
disease of anatomical entity; disease of metabolismgenetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis; Abnormality of the endocrine system
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Hyperinsulinemic Hypoglycemia, Familial, 1
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases;Neuronal diseases
Disease Name
Hyperinsulinemic Hypoglycemia, Familial, 2
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases;Neuronal diseases
Disease Name
Hyperinsulinism Due to Hnf1a Deficiency
Global Category
Rare diseases
Anatomical Category
Endocrine diseases
Disease Name
Hyperinsulinism Due to Hnf4a Deficiency
Global Category
Rare diseases
Anatomical Category
Endocrine diseases
Disease Name
Hyperinsulinism Due to Ucp2 Deficiency
Global Category
Rare diseases
Anatomical Category
Endocrine diseases
Disease Definition
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detecAutosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detectHyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clHyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglyceHyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is rHyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsHyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excMSH2017_2016_08_12:A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).MSH2017_2016_08_12:A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.|HPO2016_07_04:An increased concentration of insulin in the blood. [HPO:probinson]|CSP2006:syndrome with excessively high insulin levels in the blood; it may cause hypoglycemia; etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor, autoantibodies against insulin, defective insulin receptor, or overuse of exogeneous insulin or hypoglycemic agents.NCI2016_02D:A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.|MSH2017_2016_08_12:An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the PANCREAS and CONGENITAL HYPERINSULINISM. It is due to focal hyperplasia of pancreatic ISLET CELLS budding off from the ductal structures and forming new islets of Langerhans. Mutations in the islet cells involve the potassium channel gene KCNJ11 or the ATP-binding cassette transporter gene ABCC8, both on CHROMOSOME 11.
Me Sh Disease Class
Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsNutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome