DiseaseID 419
艾迪生病
disease
MSH2017_2016_08_12:Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the
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Disease: 1Experiment: 3Symptom: 12Target: 26Links: 41
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 419
- Core Entity Id
- 470
- Source Entity Count
- 1
- Preferred Name
- Addison Disease
- Name Cn
- 艾迪生病
- Name Pinyin
- Ai Di Sheng Bing
- Name En
- Addison Disease
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Endocrine System DiseasesImmune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System DiseasesImmune System Diseases; Endocrine System DiseasesImmune System Diseases; Nervous System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic diseasegenetic disease; disease of anatomical entity; disease of metabolism
- Hpo Class
- Abnormality of the endocrine systemAbnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System DiseasesEndocrine System DiseasesImmune System Diseases; Endocrine System DiseasesImmune System Diseases; Nervous System Diseases
- Hpo Class Name
- Abnormality of the endocrine systemAbnormality of the nervous system
- Do Class Name
- disease of anatomical entitydisease of metabolism; genetic disease; disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- MSH2017_2016_08_12:Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS.|HPO2016_07_04:Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. [HPO:probinson, pmid:11443143]
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Addison Disease
Role
preferred
Name
Abcd1 Gene
Role
preferred
Name
Adrenal Cortical Hypofunction
Role
preferred
Name
Adrenal Gland Hypofunction
Role
preferred
Name
Adrenoleukodystrophy
Role
preferred
Name
Adrenomyeloneuropathy
Role
preferred
Name
Diffuse Cerebral Sclerosis Of Schilder
Role
preferred
Name
Hypoadrenocorticism, Familial
Role
preferred
Name
Addison'S Disease Due To Autoimmunity
Role
preferred
Name
Adrenal Hypoplasia
Role
preferred
Name
Alpers Syndrome (Disorder)
Role
preferred
Name
Balo'S Concentric Sclerosis
Role
preferred
Name
Complex Glycerol Kinase Deficiency
Role
preferred
Name
Congenital Absence of Adrenal Gland
Role
preferred
Name
X-Linked Adrenal Hypoplasia
Role
preferred
Name
Xp21 Contiguous Gene Deletion Syndrome
Role
preferred
Name
ADDISON DISEASE AND CEREBRAL SCLEROSIS
Role
alias
Name
ALD
Role
alias
Name
AMN
Role
alias
Name
Addison'S Disease
Role
alias
Name
Adrenal Aplasia
Role
alias
Name
Adrenal Gland Agenesis
Role
alias
Name
Adrenal Gland Hypoplasia
Role
alias
Name
Adrenal Hypoplasia, Congenital
Role
alias
Name
Adrenal Insufficiency
Role
alias
Name
Adrenocortical Insufficiency
Role
alias
Name
Alpers' Disease
Role
alias
Name
BRONZE SCHILDER DISEASE
Role
alias
Name
Balo Concentric Sclerosis
Role
alias
Name
Chromosome Xp21 Deletion Syndrome
Role
alias
Name
Concentric Sclerosis [Balo]
Role
alias
Name
Diffuse Cerebral Sclerosis
Role
alias
Name
Diffuse Sclerosis
Role
alias
Name
Familial Hypoadrenocorticism
Role
alias
Name
Hypoadrenalism
Role
alias
Name
Hypofunction, Adrenal Gland
Role
alias
Name
Hypoplastic Adrenal Glands
Role
alias
Name
MELANODERMIC LEUKODYSTROPHY
Role
alias
Name
Mitochondrial Dna Depletion Syndrome 4A
Role
alias
Name
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Role
alias
Name
Primary Adrenal Insufficiency
Role
alias
Name
Primary Adrenocortical Failure
Role
alias
Name
Primary Adrenocortical Insufficiency
Role
alias
Name
SIEMERLING-CREUTZFELDT DISEASE
Role
alias
Name
Schilder Disease
Role
alias
Name
Sudanophilic Cerebral Sclerosis
Role
alias
Name
X-Linked Adrenal Hypoplasia Congenita
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000835HP:0000846HP:0006918HP:0008207HP:0011743
Herb
HBDIS000051HBDIS000071HBDIS000301HBDIS000507HBDIS004110HBDIS004289HBDIS005966HBDIS006658HBDIS008006HBDIS008932HBDIS011646HBDIS014440HBDIS016288HBDIS018475HBDIS026732
Me Sh
D000075262D000224D000309D000326D002549
Omim
203700240200272100300100300200
Umls
C0001403C0001623C0007795C0162309C0271737C0405580C1412084C1527231C1868690
Icd10
E27.1E71.522G37.0G37.5
Sym Map
SMDE00581SMDE05267SMDE05458SMDE05459SMDE05551SMDE05556SMDE05566SMDE07907SMDE09680
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0001403C0001623C0004712C0007795C0162309C0205710C0266273C0271737C0342482C0405580C0795887C1527231C1846223C1868690C4505291
Umls Sty
T019T033T047
Hpo Class
HP:0000707HP:0000818
Me Sh Class
C10C16C18C19C20
Etcm Disease
AdrenoleukodystrophyHypoadrenocorticism, Familial
Tcmbank Disease
1468815182159121753717542199061997321863249952754628613067416038303
Itcmdb Generated
ITX-DISEASE-12A4B68252F0ITX-DISEASE-43AC3AF3C824ITX-DISEASE-692492FBAD99ITX-DISEASE-6B2A4723479DITX-DISEASE-D56E4BA76715ITX-DISEASE-D851300066A9
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Adrenoleukodystrophy Details pageDisease Hypoadrenocorticism, Familial Details page
Do Class Name
disease of anatomical entitydisease of metabolism; genetic disease; disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of the endocrine systemAbnormality of the nervous system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic diseasegenetic disease; disease of anatomical entity; disease of metabolism
Hpo Disease Class
Abnormality of the endocrine systemAbnormality of the nervous system
Umls Disease Type
Congenital AbnormalityDisease or SyndromeFinding
Basic Information
Disease Name
Adrenoleukodystrophy
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Neuronal diseases;Reproductive diseases
Disease Name
Hypoadrenocorticism, Familial
Global Category
Cancer diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases;Skin diseases
Disease Definition
MSH2017_2016_08_12:Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS.|HPO2016_07_04:Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. [HPO:probinson, pmid:11443143]NCI2016_02D:A long-standing and persistent diminished production of adrenocortical hormones due to a disorder originating within the adrenal glands.|MSH2017_2016_08_12:An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES.|MEDLINEPLUS_20151021:<p>Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones.</p> <p>A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands. Other causes include infections and cancer.</p> <p>Symptoms include</p> <ul> <li>Weight loss </li> <li>Muscle weakness </li> <li>Fatigue that gets worse over time </li> <li>Low blood pressure </li> <li>Patchy or dark skin </li> </ul> <p>Lab tests can confirm that you have Addison disease. If you don't treat it, it can be fatal. You will need to take hormone pills for the rest of your life. If you have Addison disease, you should carry an emergency ID. It should say that you have the disease, list your medicines and say how much you need in an emergency.</p> <p >NIH: National Institute of Diabetes and Digestive and Kidney Diseases</p>|HPO2016_07_04:Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. [HPO:probinson]|CSP2006:disease characterized by hypotension, weight loss, anorexia, weakness, and sometimes a bronze-like melanotic hyperpigmentation of the skin; due to tuberculosis or autoimmune induced disease (hypofunction) of the adrenal glands that results in deficiency of aldosterone and cortisol.NCI2016_02D:A rare congenital demyelinating disorder affecting the central nervous system. It is characterized by a demyelinating destructive lesion affecting an entire brain lobe or hemisphere. Signs and symptoms include dementia, cortical deafness and blindness, pseudobulbar palsy, and hemiplegia.|MSH2017_2016_08_12:A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (From Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73)NCI2016_02D:A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death.|MSH2017_2016_08_12:An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).|JABL99:A syndrome combining the characteristics of adrenocortical insufficiency (Addison disease) with those of cerebral sclerosis (Schilder disease). Skin bronzing and sclerosis of the brain and demyelination are the principal manifestations.|CSP2006:childhood genetic disease, transmitted as an X-linked recessive trait, characterized by diffuse abnormality of cerebral white matter and adrenal atrophy; mental deterioration progresses to dementia, aphasia, apraxia, dysarthria, and loss of vision.NCI2016_NICHD_1602D:Diminished production of glucocorticoids.|NCI2016_CTCAE_1602D:A disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex as in Addison's disease or primary adrenal insufficiency.|NCI2016_02D:An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).
Me Sh Disease Class
Endocrine System DiseasesImmune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System DiseasesImmune System Diseases; Endocrine System DiseasesImmune System Diseases; Nervous System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System DiseasesEndocrine System DiseasesImmune System Diseases; Endocrine System DiseasesImmune System Diseases; Nervous System Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeFinding