PedAM

Pediatric Disease Annotations & Medicines


	iron deficiency anemia

Disease ID	647
Disease	iron deficiency anemia
Definition	Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased.
Synonym	anaemia - iron defic. anemia - iron defic. anemia iron defic anemia iron deficiency anemia, iron deficiency anemia, iron-deficiency anemia, iron-deficiency [disease/finding] anemias iron defic anemias, iron deficiency anemias, iron-deficiency fe deficiency anemia fe deficiency anemia nos ferropenic ferropenic anemia hypoferric anemia ida - iron deficiency anaemia ida - iron deficiency anemia iron defic anemia iron defic anemia nos iron defic anemias iron deficiency anaemia iron deficiency anaemia nos iron deficiency anaemia syndrome iron deficiency anaemia syndrome (disorder) iron deficiency anaemias iron deficiency anemia (disorder) iron deficiency anemia nos iron deficiency anemia nos (disorder) iron deficiency anemia syndrome iron deficiency anemia, nos iron deficiency anemia, unspecified iron deficiency anemias iron-deficiency anemia iron-deficiency anemias sideropenic anaemia sideropenic anemia unspecified iron deficiency anaemia unspecified iron deficiency anemia unspecified iron deficiency anemia (disorder)
DOID	DOID:11758
ICD10	ICD10CM:D50.9
UMLS	C0162316
MeSH	D018798
SNOMED-CT	SNOMEDCT_US_2016_09_01:87522002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:60) C0021390 \| inflammatory bowel disease \| 12 C0022661 \| chronic kidney disease \| 11 C0022658 \| kidney disease \| 11 C0021831 \| bowel disease \| 6 C0007570 \| celiac disease \| 5 C0002871 \| anemia \| 3 C0024523 \| malabsorption \| 3 C0018801 \| heart failure \| 3 C0040034 \| thrombocytopenia \| 3 C0039730 \| thalassemia \| 3 C0024530 \| malaria \| 2 C0040053 \| thrombus \| 2 C0040053 \| thrombosis \| 2 C0005283 \| beta thalassemia \| 2 C0162429 \| nutritional deficiency \| 1 C0003857 \| arteriovenous malformation \| 1 C0021390 \| inflammatory bowel diseases \| 1 C0011570 \| depression \| 1 C0700345 \| vulvovaginal candidiasis \| 1 C0018799 \| heart disease \| 1 C0007113 \| rectal cancer \| 1 C0206669 \| hepatic adenoma \| 1 C0007102 \| colon cancer \| 1 C0035258 \| restless legs syndrome \| 1 C0042870 \| vitamin d deficiency \| 1 C0023890 \| cirrhosis \| 1 C0023890 \| liver cirrhosis \| 1 C0043117 \| idiopathic thrombocytopenia \| 1 C0085576 \| microcytic anemia \| 1 C0006852 \| vaginal candidiasis \| 1 C0031117 \| peripheral neuropathy \| 1 C0039730 \| thalassaemia \| 1 C0020541 \| portal hypertension \| 1 C0035078 \| renal failure \| 1 C0836924 \| thrombocytosis \| 1 C0282193 \| iron overload \| 1 C0004153 \| atherosclerosis \| 1 C0042870 \| vitamin d defic \| 1 C0037280 \| infestation \| 1 C0032285 \| pneumonia \| 1 C0033953 \| sexual dysfunction \| 1 C0747256 \| parasitic infection \| 1 C0030312 \| pancytopenia \| 1 C0008350 \| gallstone \| 1 C0031099 \| periodontitis \| 1 C0024623 \| gastric cancer \| 1 C0019291 \| hiatal hernia \| 1 C0017536 \| giardiasis \| 1 C0026654 \| moyamoya syndrome \| 1 C0152021 \| congenital heart disease \| 1 C0026654 \| moyamoya \| 1 C0022658 \| renal disease \| 1 C0011880 \| diabetic ketoacidosis \| 1 C0014869 \| reflux esophagitis \| 1 C0442874 \| neuropathy \| 1 C0022661 \| chronic renal disease \| 1 C0039445 \| hereditary hemorrhagic telangiectasia \| 1 C0001418 \| adenocarcinoma \| 1 C0085253 \| adult onset still's disease \| 1 C0009402 \| colorectal cancer \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) SOD1 \| 6647 \| CTD_human SLC11A2 \| 4891 \| CTD_human TMPRSS6 \| 164656 \| CTD_human TFRC \| 7037 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 1543 \| CYP1A1 \| infer 7018 \| TF \| infer 3077 \| HFE \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:149) 104940698 \| DALIR \| DISEASES 4710 \| NDUFB4 \| DISEASES 3049 \| HBQ1 \| DISEASES 7066 \| THPO \| DISEASES 3162 \| HMOX1 \| DISEASES 81610 \| FAM83D \| DISEASES 479 \| ATP12A \| DISEASES 973 \| CD79A \| DISEASES 57817 \| HAMP \| DISEASES 7392 \| USF2 \| DISEASES 5444 \| PON1 \| DISEASES 7036 \| TFR2 \| DISEASES 3558 \| IL2 \| DISEASES 6556 \| SLC11A1 \| DISEASES 8074 \| FGF23 \| DISEASES 3641 \| INSL4 \| DISEASES 5217 \| PFN2 \| DISEASES 27019 \| DNAI1 \| DISEASES 140690 \| CTCFL \| DISEASES 4620 \| MYH2 \| DISEASES 92797 \| HELB \| DISEASES 4695 \| NDUFA2 \| DISEASES 2056 \| EPO \| DISEASES 9518 \| GDF15 \| DISEASES 6155 \| RPL27 \| DISEASES 1401 \| CRP \| DISEASES 10955 \| SERINC3 \| DISEASES 759 \| CA1 \| DISEASES 2694 \| GIF \| DISEASES 3569 \| IL6 \| DISEASES 3658 \| IREB2 \| DISEASES 54536 \| EXOC6 \| DISEASES 30061 \| SLC40A1 \| DISEASES 7450 \| VWF \| DISEASES 22818 \| COPZ1 \| DISEASES 495 \| ATP4A \| DISEASES 3249 \| HPN \| DISEASES 8455 \| ATRN \| DISEASES 1356 \| CP \| DISEASES 38 \| ACAT1 \| DISEASES 3263 \| HPX \| DISEASES 11081 \| KERA \| DISEASES 54957 \| TXNL4B \| DISEASES 150094 \| SIK1 \| DISEASES 2495 \| FTH1 \| DISEASES 100996939 \| PYURF \| DISEASES 6167 \| RPL37 \| DISEASES 6768 \| ST14 \| DISEASES 6094 \| ROM1 \| DISEASES 23037 \| PDZD2 \| DISEASES 654 \| BMP6 \| DISEASES 5651 \| TMPRSS15 \| DISEASES 539 \| ATP5O \| DISEASES 715 \| C1R \| DISEASES 3046 \| HBE1 \| DISEASES 114757 \| CYGB \| DISEASES 6360 \| CCL16 \| DISEASES 6159 \| RPL29 \| DISEASES 2168 \| FABP1 \| DISEASES 213 \| ALB \| DISEASES 3673 \| ITGA2 \| DISEASES 10915 \| TCERG1 \| DISEASES 3562 \| IL3 \| DISEASES 26872 \| STEAP1 \| DISEASES 124935 \| SLC43A2 \| DISEASES 56890 \| MDM1 \| DISEASES 3479 \| IGF1 \| DISEASES 649 \| BMP1 \| DISEASES 2147 \| F2 \| DISEASES 48 \| ACO1 \| DISEASES 27173 \| SLC39A1 \| DISEASES 619373 \| MBOAT4 \| DISEASES 1604 \| CD55 \| DISEASES 246213 \| SLC17A8 \| DISEASES 79901 \| CYBRD1 \| DISEASES 2193 \| FARSA \| DISEASES 90480 \| GADD45GIP1 \| DISEASES 3047 \| HBG1 \| DISEASES 716 \| C1S \| DISEASES 255324 \| EPGN \| DISEASES 2520 \| GAST \| DISEASES 2242 \| FES \| DISEASES 3043 \| HBB \| DISEASES 2152 \| F3 \| DISEASES 164656 \| TMPRSS6 \| DISEASES 51738 \| GHRL \| DISEASES 148738 \| HFE2 \| DISEASES 966 \| CD59 \| DISEASES 50650 \| ARHGEF3 \| DISEASES 4089 \| SMAD4 \| DISEASES 375484 \| SIMC1 \| DISEASES 28986 \| MAGEH1 \| DISEASES 3767 \| KCNJ11 \| DISEASES 1861 \| TOR1A \| DISEASES 54898 \| ELOVL2 \| DISEASES 5979 \| RET \| DISEASES 4698 \| NDUFA5 \| DISEASES 5265 \| SERPINA1 \| DISEASES 3240 \| HP \| DISEASES 146059 \| CDAN1 \| DISEASES 6288 \| SAA1 \| DISEASES 55340 \| GIMAP5 \| DISEASES 617 \| BCS1L \| DISEASES 4151 \| MB \| DISEASES 7037 \| TFRC \| DISEASES 8838 \| WISP3 \| DISEASES 10724 \| MGEA5 \| DISEASES 56259 \| CTNNBL1 \| DISEASES 23038 \| WDTC1 \| DISEASES 7052 \| TGM2 \| DISEASES 9191 \| DEDD \| DISEASES 6279 \| S100A8 \| DISEASES 959 \| CD40LG \| DISEASES 541466 \| CT45A1 \| DISEASES 139596 \| UPRT \| DISEASES 7321 \| UBE2D1 \| DISEASES 712 \| C1QA \| DISEASES 3397 \| ID1 \| DISEASES 5355 \| PLP2 \| DISEASES 2512 \| FTL \| DISEASES 56287 \| GKN1 \| DISEASES 3400 \| ID4 \| DISEASES 650 \| BMP2 \| DISEASES 53940 \| FTHL17 \| DISEASES 54790 \| TET2 \| DISEASES 3045 \| HBD \| DISEASES 83650 \| SLC35G5 \| DISEASES 2235 \| FECH \| DISEASES 388698 \| FLG2 \| DISEASES 94 \| ACVRL1 \| DISEASES 11325 \| DDX42 \| DISEASES 55240 \| STEAP3 \| DISEASES 4891 \| SLC11A2 \| DISEASES 4357 \| MPST \| DISEASES 344148 \| NCKAP5 \| DISEASES 7018 \| TF \| DISEASES 210 \| ALAD \| DISEASES 55683 \| KANSL3 \| DISEASES 2935 \| GSPT1 \| DISEASES 7124 \| TNF \| DISEASES 147372 \| CCBE1 \| DISEASES 4152 \| MBD1 \| DISEASES 728090 \| CT47A2 \| DISEASES 3077 \| HFE \| DISEASES 55799 \| CACNA2D3 \| DISEASES 10189 \| ALYREF \| DISEASES 9843 \| HEPH \| DISEASES 7033 \| TFF3 \| DISEASES 8825 \| LIN7A \| DISEASES
Locus	(Waiting for update.)

Disease ID	647
Disease	iron deficiency anemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:52) HP:0012622 \| Chronic kidney disease \| 11 HP:0002584 \| Intestinal hemorrhage \| 5 HP:0002608 \| Celiac disease \| 5 HP:0002239 \| Gastrointestinal hemorrhage \| 4 HP:0001635 \| Congestive heart failure \| 3 HP:0001873 \| Low platelet count \| 3 HP:0001903 \| Anemia \| 3 HP:0002024 \| Intestinal malabsorption \| 3 HP:0001518 \| Small for gestational age \| 2 HP:0012721 \| Venous malformations \| 2 HP:0005202 \| Helicobacter pylori infection \| 2 HP:0003003 \| Colon cancer \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0001935 \| Microcytic anemia \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0004936 \| Blood clot in vein \| 1 HP:0012204 \| Recurrent vulvovaginal candidiasis \| 1 HP:0012126 \| Gastric cancer \| 1 HP:0000938 \| Decreased bone mineral density \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0002459 \| Dysautonomia \| 1 HP:0001973 \| Autoimmune thrombocytopenia \| 1 HP:0002148 \| Hypophosphataemia \| 1 HP:0003281 \| Increased ferritin \| 1 HP:0001953 \| Diabetic ketosis \| 1 HP:0000716 \| Depression \| 1 HP:0011856 \| Pica \| 1 HP:0001876 \| Low blood cell count \| 1 HP:0002090 \| Pneumonia \| 1 HP:0001948 \| Alkalosis \| 1 HP:0002664 \| Neoplasia \| 1 HP:0012028 \| Hepatocellular adenoma \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0012849 \| Small intestinal hemorrhage \| 1 HP:0002373 \| Febrile convulsions \| 1 HP:0012378 \| Fatigue \| 1 HP:0001880 \| Eosinophilia \| 1 HP:0000704 \| Pyorrhea \| 1 HP:0001993 \| Ketoacidosis \| 1 HP:0002140 \| Ischemic stroke \| 1 HP:0002036 \| Hiatus hernia \| 1 HP:0001394 \| Hepatic cirrhosis \| 1 HP:0012531 \| Pain \| 1 HP:0100026 \| Arteriovenous malformation \| 1 HP:0200114 \| Metabolic alkalosis \| 1 HP:0001894 \| Thrombocytosis \| 1 HP:0002573 \| Bloody diarrhea \| 1 HP:0010972 \| Anemia of inadequate production \| 1 HP:0012251 \| ST segment elevation \| 1 HP:0001409 \| Portal hypertension \| 1

Disease ID	647
Disease	iron deficiency anemia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0267373 \| intestinal bleeding \| 5 C0007570 \| celiac disease \| 5 C0040034 \| thrombocytopenia \| 3 C0836924 \| thrombocytosis \| 1 C0038454 \| stroke \| 1 C0009402 \| colorectal cancer \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	25862899	673	BRAF	umls:C0162316	BeFree	BRAF V600E mutation in colorectal cancer is associated with right-sided tumours and iron deficiency anaemia.	0.000271442	2015	BRAF	7	140753336	A	T,G,C
rs1800562	19747287	3077	HFE	umls:C0162316	BeFree	The protective effect of the heterozygous genotype for HFE C282Y mutation against ID and IDA in female blood donors was also determined.	0.022389055	2009	HFE	6	26092913	G	A
rs235756	22323359	57817	HAMP	umls:C0162316	BeFree	To evaluate the association of genetic variants in genes involved in iron delivery and hepcidin regulation pathways with the risk of iron-deficiency anemia (IDA), the following single nucleotide polymorphisms were genotyped in 2139 unrelated elderly Chinese women: rs3811647 (TF), rs7385804 (TFR2), rs235756 (BMP2), and rs855791(V736A) and rs4820268 (TMPRSS6, encoding matriptase-2).	0.002714419	2012	NA	20	6786464	A	G
rs3811647	22323359	57817	HAMP	umls:C0162316	BeFree	To evaluate the association of genetic variants in genes involved in iron delivery and hepcidin regulation pathways with the risk of iron-deficiency anemia (IDA), the following single nucleotide polymorphisms were genotyped in 2139 unrelated elderly Chinese women: rs3811647 (TF), rs7385804 (TFR2), rs235756 (BMP2), and rs855791(V736A) and rs4820268 (TMPRSS6, encoding matriptase-2).	0.002714419	2012	TF	3	133765185	G	A
rs4820268	22323359	57817	HAMP	umls:C0162316	BeFree	To evaluate the association of genetic variants in genes involved in iron delivery and hepcidin regulation pathways with the risk of iron-deficiency anemia (IDA), the following single nucleotide polymorphisms were genotyped in 2139 unrelated elderly Chinese women: rs3811647 (TF), rs7385804 (TFR2), rs235756 (BMP2), and rs855791(V736A) and rs4820268 (TMPRSS6, encoding matriptase-2).	0.002714419	2012	TMPRSS6	22	37073551	G	A
rs7385804	22323359	57817	HAMP	umls:C0162316	BeFree	To evaluate the association of genetic variants in genes involved in iron delivery and hepcidin regulation pathways with the risk of iron-deficiency anemia (IDA), the following single nucleotide polymorphisms were genotyped in 2139 unrelated elderly Chinese women: rs3811647 (TF), rs7385804 (TFR2), rs235756 (BMP2), and rs855791(V736A) and rs4820268 (TMPRSS6, encoding matriptase-2).	0.002714419	2012	TFR2	7	100638347	C	A
rs855791	22323359	57817	HAMP	umls:C0162316	BeFree	To evaluate the association of genetic variants in genes involved in iron delivery and hepcidin regulation pathways with the risk of iron-deficiency anemia (IDA), the following single nucleotide polymorphisms were genotyped in 2139 unrelated elderly Chinese women: rs3811647 (TF), rs7385804 (TFR2), rs235756 (BMP2), and rs855791(V736A) and rs4820268 (TMPRSS6, encoding matriptase-2).	0.002714419	2012	TMPRSS6	22	37066896	A	T,G
rs855791	24782651	164656	TMPRSS6	umls:C0162316	BeFree	TMPRSS6 rs855791 polymorphism influences the susceptibility to iron deficiency anemia in women at reproductive age.	0.123257302	2014	TMPRSS6	22	37066896	A	T,G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:4)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0162316	diclofenac	D004008	15307-86-5	anemia, iron-deficiency	MESH:D018798	marker/mechanism	1444695
C0162316	indomethacin	D007213	53-86-1	anemia, iron-deficiency	MESH:D018798	marker/mechanism	7986967
C0162316	omeprazole	D009853	73590-58-6	anemia, iron-deficiency	MESH:D018798	marker/mechanism	12452401
C0162316	vitamin a	D014801	11103-57-4	anemia, iron-deficiency	MESH:D018798	therapeutic	16960172

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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