PedAM

Pediatric Disease Annotations & Medicines


	addison disease

Disease ID	107
Disease	addison disease
Definition	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.
Synonym	addison dis addison disease [disease/finding] addison's disease addison's disease (disorder) addison's disease [ambiguous] addison's disease nos addison's disease, nos addison's disease, nos (disorder) addisons dis addisons disease adrenal insufficiency (addison disease) adrenal insufficiency (addison's disease) adrenal insufficiency, primary adrenocortical insufficiencies, primary adrenocortical insufficiency, primary adrenocortical insufficiency, primary failure chronic primary adrenal insufficiency disease addison's disease, addison hypoadrenalism, primary hypoadrenalisms, primary hypocortisolism insufficiencies, primary adrenocortical insufficiency, primary adrenocortical primary adrenal deficiency primary adrenal insufficiency primary adrenocortical failure primary adrenocortical insufficiencies primary adrenocortical insufficiency primary adrenocortical insufficiency (disorder) primary hypoadrenalism
Orphanet	ORPHANET:85138 ORPHANET:101958 ORPHANET:101959
OMIM	OMIM:240200
DOID	DOID:13774
ICD10	ICD10CM:E27.1
UMLS	C0001403
MeSH	D000224
SNOMED-CT	SNOMEDCT_US_2016_09_01:363732003;SNOMEDCT_US_2016_09_01:373662000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:48) C0011847 \| diabetes \| 6 C0040128 \| thyroid disease \| 6 C0011854 \| type 1 diabetes \| 5 C0011849 \| diabetes mellitus \| 4 C0020538 \| hypertension \| 3 C0011854 \| type 1 diabetes mellitus \| 3 C0021053 \| immune disease \| 3 C0040147 \| thyroiditis \| 2 C0151740 \| intracranial hypertension \| 2 C0878544 \| cardiomyopathy \| 2 C0001403 \| primary adrenocortical insufficiency \| 2 C0033845 \| idiopathic intracranial hypertension \| 2 C0154437 \| atypical depression \| 2 C0001403 \| addison disease \| 2 C0085215 \| premature ovarian failure \| 2 C0031046 \| pericarditis \| 1 C0002892 \| pernicious anemia \| 1 C0015674 \| chronic fatigue syndrome \| 1 C0002871 \| anemia \| 1 C0221406 \| cushing's disease \| 1 C0037317 \| sleep disturbances \| 1 C0022658 \| renal disease \| 1 C0037317 \| sleep disturbance \| 1 C0751711 \| anterior ischaemic optic neuropathy \| 1 C0020635 \| pituitary insufficiency \| 1 C0041296 \| tuberculosis \| 1 C0040034 \| thrombocytopenia \| 1 C0040053 \| thrombosis \| 1 C1145670 \| respiratory failure \| 1 C0018213 \| graves' disease \| 1 C0028754 \| obesity \| 1 C0019655 \| histoplasmosis \| 1 C0029132 \| optic neuropathy \| 1 C0018801 \| heart failure \| 1 C0020437 \| hypercalcemia \| 1 C0677607 \| hashimoto's thyroiditis \| 1 C0442874 \| neuropathy \| 1 C0026848 \| myopathy \| 1 C0038436 \| posttraumatic stress disorder \| 1 C0026896 \| myasthenia gravis \| 1 C0024299 \| lymphoma \| 1 C0020598 \| hypoglycemia \| 1 C0022661 \| end-stage renal disease \| 1 C0920350 \| autoimmune thyroiditis \| 1 C0028242 \| nocardiosis \| 1 C0162309 \| adrenoleukodystrophy \| 1 C0679466 \| cognitive deficits \| 1 C0520482 \| somatization disorder \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) CLEC16A \| 23274 \| CTD_human CIITA \| 4261 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:18) 5243 \| ABCB1 \| infer 2289 \| FKBP5 \| infer 3290 \| HSD11B1 \| infer 2908 \| NR3C1 \| infer 26191 \| PTPN22 \| infer 729230 \| CCR2 \| infer 1234 \| CCR5 \| infer 4261 \| CIITA \| infer 1493 \| CTLA4 \| infer 1565 \| CYP2D6 \| infer 2212 \| FCGR2A \| infer 2214 \| FCGR3A \| infer 2215 \| FCGR3B \| infer 3117 \| HLA-DQA1 \| infer 3119 \| HLA-DQB1 \| infer 3123 \| HLA-DRB1 \| infer 100507436 \| MICA \| infer 7421 \| VDR \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:133) 8086 \| AAAS \| DISEASES 57026 \| PDXP \| DISEASES 215 \| ABCD1 \| DISEASES 7038 \| TG \| DISEASES 8797 \| TNFRSF10A \| DISEASES 973 \| CD79A \| DISEASES 6822 \| SULT2A1 \| DISEASES 3558 \| IL2 \| DISEASES 1594 \| CYP27B1 \| DISEASES 113246 \| C12orf57 \| DISEASES 135152 \| B3GAT2 \| DISEASES 2908 \| NR3C1 \| DISEASES 6431 \| SRSF6 \| DISEASES 7166 \| TPH1 \| DISEASES 3630 \| INS \| DISEASES 2694 \| GIF \| DISEASES 60468 \| BACH2 \| DISEASES 3431 \| SP110 \| DISEASES 2572 \| GAD2 \| DISEASES 5004 \| ORM1 \| DISEASES 2230 \| FDX1 \| DISEASES 1559 \| CYP2C9 \| DISEASES 29121 \| CLEC2D \| DISEASES 3290 \| HSD11B1 \| DISEASES 4025 \| LPO \| DISEASES 55717 \| WDR11 \| DISEASES 54414 \| SIAE \| DISEASES 64135 \| IFIH1 \| DISEASES 89884 \| LHX4 \| DISEASES 23530 \| NNT \| DISEASES 5443 \| POMC \| DISEASES 2651 \| GCNT2 \| DISEASES 597 \| BCL2A1 \| DISEASES 1583 \| CYP11A1 \| DISEASES 5211 \| PFKL \| DISEASES 5972 \| REN \| DISEASES 1393 \| CRHBP \| DISEASES 84636 \| GPR174 \| DISEASES 2796 \| GNRH1 \| DISEASES 6770 \| STAR \| DISEASES 1392 \| CRH \| DISEASES 3439 \| IFNA1 \| DISEASES 5741 \| PTH \| DISEASES 6317 \| SERPINB3 \| DISEASES 539 \| ATP5O \| DISEASES 5822 \| PWP2 \| DISEASES 326 \| AIRE \| DISEASES 6159 \| RPL29 \| DISEASES 5798 \| PTPRN \| DISEASES 122769 \| LRR1 \| DISEASES 552 \| AVPR1A \| DISEASES 1292 \| COL6A2 \| DISEASES 1548 \| CYP2A6 \| DISEASES 5617 \| PRL \| DISEASES 3479 \| IGF1 \| DISEASES 7200 \| TRH \| DISEASES 1493 \| CTLA4 \| DISEASES 3627 \| CXCL10 \| DISEASES 84684 \| INSM2 \| DISEASES 6373 \| CXCL11 \| DISEASES 225 \| ABCD2 \| DISEASES 4261 \| CIITA \| DISEASES 3291 \| HSD11B2 \| DISEASES 4161 \| MC5R \| DISEASES 8630 \| HSD17B6 \| DISEASES 387082 \| SUMO4 \| DISEASES 7173 \| TPO \| DISEASES 134957 \| STXBP5 \| DISEASES 4772 \| NFATC1 \| DISEASES 2520 \| GAST \| DISEASES 4158 \| MC2R \| DISEASES 54490 \| UGT2B28 \| DISEASES 226 \| ALDOA \| DISEASES 1576 \| CYP3A4 \| DISEASES 3117 \| HLA-DQA1 \| DISEASES 8805 \| TRIM24 \| DISEASES 1544 \| CYP1A2 \| DISEASES 866 \| SERPINA6 \| DISEASES 1861 \| TOR1A \| DISEASES 80705 \| TSGA10 \| DISEASES 50488 \| MINK1 \| DISEASES 219844 \| HYLS1 \| DISEASES 170685 \| NUDT10 \| DISEASES 1644 \| DDC \| DISEASES 2571 \| GAD1 \| DISEASES 6775 \| STAT4 \| DISEASES 26191 \| PTPN22 \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 1565 \| CYP2D6 \| DISEASES 388677 \| NOTCH2NL \| DISEASES 7052 \| TGM2 \| DISEASES 55532 \| SLC30A10 \| DISEASES 9095 \| TBX19 \| DISEASES 115352 \| FCRL3 \| DISEASES 26227 \| PHGDH \| DISEASES 3283 \| HSD3B1 \| DISEASES 3284 \| HSD3B2 \| DISEASES 1586 \| CYP17A1 \| DISEASES 5825 \| ABCD3 \| DISEASES 6658 \| SOX3 \| DISEASES 100507436 \| MICA \| DISEASES 3105 \| HLA-A \| DISEASES 64344 \| HIF3A \| DISEASES 8718 \| TNFRSF25 \| DISEASES 190 \| NR0B1 \| DISEASES 3559 \| IL2RA \| DISEASES 551 \| AVP \| DISEASES 6462 \| SHBG \| DISEASES 126206 \| NLRP5 \| DISEASES 3898 \| LAD1 \| DISEASES 78996 \| C7orf49 \| DISEASES 164 \| AP1G1 \| DISEASES 1394 \| CRHR1 \| DISEASES 3119 \| HLA-DQB1 \| DISEASES 57708 \| MIER1 \| DISEASES 23274 \| CLEC16A \| DISEASES 3120 \| HLA-DQB2 \| DISEASES 10478 \| SLC25A17 \| DISEASES 720 \| C4A \| DISEASES 3106 \| HLA-B \| DISEASES 1589 \| CYP21A2 \| DISEASES 1028 \| CDKN1C \| DISEASES 114883 \| OSBPL9 \| DISEASES 169026 \| SLC30A8 \| DISEASES 846 \| CASR \| DISEASES 51428 \| DDX41 \| DISEASES 5238 \| PGM3 \| DISEASES 146227 \| BEAN1 \| DISEASES 246744 \| STH \| DISEASES 7421 \| VDR \| DISEASES 22861 \| NLRP1 \| DISEASES 348120 \| LINC01193 \| DISEASES 677829 \| SNORA49 \| DISEASES
Locus	(Waiting for update.)

Disease ID	107
Disease	addison disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:49) HP:0000872 \| Hashimoto thyroiditis HP:0001045 \| Vitiligo HP:0002829 \| Arthralgia HP:0001824 \| Weight loss HP:0000823 \| Delayed puberty HP:0001324 \| Muscle weakness HP:0000953 \| Hyperpigmentation of the skin HP:0002019 \| Constipation HP:0002014 \| Diarrhea HP:0008720 \| Primary testicular failure HP:0006462 \| Generalized bone demineralization HP:0003154 \| Increased circulating ACTH level HP:0002960 \| Autoimmunity HP:0002321 \| Vertigo HP:0030018 \| Decreased female libido HP:0030083 \| Salt craving HP:0012364 \| Decreased urinary potassium HP:0001897 \| Normocytic anemia HP:0002902 \| Hyponatremia HP:0000127 \| Renal salt wasting HP:0000829 \| Hypoparathyroidism HP:0008226 \| Androgen insufficiency HP:0001250 \| Seizures HP:0002608 \| Celiac disease HP:0001943 \| Hypoglycemia HP:0001278 \| Orthostatic hypotension HP:0002615 \| Hypotension HP:0004319 \| Hypoaldosteronism HP:0004860 \| Thiamine-responsive megaloblastic anemia HP:0012378 \| Fatigue HP:0100651 \| Type I diabetes mellitus HP:0000848 \| Increased circulating renin level HP:0000958 \| Dry skin HP:0002017 \| Nausea and vomiting HP:0003072 \| Hypercalcemia HP:0002215 \| Sparse axillary hair HP:0008209 \| Premature ovarian failure HP:0008207 \| Primary adrenal insufficiency HP:0002153 \| Hyperkalemia HP:0005976 \| Hyperkalemic metabolic acidosis HP:0000835 \| Adrenal hypoplasia HP:0008220 \| Hypocortisolemia HP:0001508 \| Failure to thrive HP:0002039 \| Anorexia HP:0002149 \| Hyperuricemia HP:0010512 \| Adrenal calcification HP:0002027 \| Abdominal pain HP:0100522 \| Thymoma HP:0001587 \| Primary ovarian failure
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:50) HP:0000820 \| Thyroid abnormality \| 6 HP:0012378 \| Fatigue \| 4 HP:0000819 \| Diabetes mellitus \| 4 HP:0002960 \| Autoimmune condition \| 3 HP:0002015 \| Swallowing difficulty \| 2 HP:0001638 \| Cardiomyopathy \| 2 HP:0100646 \| Thyroiditis \| 2 HP:0008209 \| Premature ovarian failure \| 2 HP:0002516 \| Intracranial pressure elevation \| 2 HP:0000822 \| Hypertension \| 2 HP:0011665 \| Takotsubo cardiomyopathy \| 2 HP:0008207 \| Addison's disease \| 2 HP:0003473 \| Fatigable weakness \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0003470 \| Inability to move \| 1 HP:0000953 \| Hyperpigmentation of the skin \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0001250 \| Seizures \| 1 HP:0002625 \| Blood clot in a deep vein \| 1 HP:0010783 \| Erythema \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0001873 \| Low platelet count \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0001945 \| Fever \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0001824 \| Weight loss \| 1 HP:0002665 \| Lymphoma \| 1 HP:0001943 \| Hypoglycemia \| 1 HP:0002344 \| Progressive neurologic deterioration \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0004850 \| Recurrent deep vein thrombosis \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0001596 \| Hair loss \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0001513 \| Obesity \| 1 HP:0000969 \| Dropsy \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0012432 \| Chronic fatigue \| 1 HP:0012531 \| Pain \| 1 HP:0001701 \| Pericarditis \| 1 HP:0002181 \| Cerebral edema \| 1 HP:0002902 \| Hyponatremia \| 1 HP:0001258 \| Spastic paraplegia, lower limb \| 1 HP:0100644 \| Melanonychia \| 1 HP:0002354 \| Memory loss \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0001903 \| Anemia \| 1 HP:0004936 \| Blood clot in vein \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1

Disease ID	107
Disease	addison disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C1963101 \| encephalopathy C1739395 \| takotsubo cardiomyopathy C0270697 \| lumbar puncture headache C0033975 \| psychosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:12) C0011854 \| type 1 diabetes \| 4 C1739395 \| takotsubo cardiomyopathy \| 2 C0033845 \| idiopathic intracranial hypertension \| 2 C0020538 \| hypertension \| 2 C0011849 \| diabetes mellitus \| 2 C0037317 \| sleep disturbances \| 1 C0085584 \| encephalopathy \| 1 C0018801 \| heart failure \| 1 C0020437 \| hypercalcemia \| 1 C0233401 \| psychiatric symptoms \| 1 C0019655 \| histoplasmosis \| 1 C0026896 \| myasthenia gravis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894086	11509019	6770	STAR	umls:C0001403	BeFree	We report a novel homozygous splice site mutation (IVS1 + 2T --> G) in STAR in two sisters (46XY, 46XX) who presented with primary adrenal insufficiency at birth and a novel homozygous R182H missense mutation in the putative lipid transfer domain of StAR in a phenotypic female (46XY) with adrenal failure and a parotid tumor.	0.000814326	2001	STAR	8	38146068	C	T,A
rs2476601	15531553	26191	PTPN22	umls:C0001403	GAD	[These data suggest that this LYP polymorphism is a susceptibility allele for Graves' disease with a major effect, and which is likely to have a role in many other autoimmune conditions.]	0.012192478	2004	PTPN22;AP4B1-AS1	1	113834946	A	G

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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