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	anemia, pernicious

Disease ID	1153
Disease	anemia, pernicious
Definition	A megaloblastic anemia occurring in children but more commonly in later life, characterized by histamine-fast achlorhydria, in which the laboratory and clinical manifestations are based on malabsorption of vitamin B 12 due to a failure of the gastric mucosa to secrete adequate and potent intrinsic factor. (Dorland, 27th ed)
Synonym	addison anemia addison's anaemia addison's anemia addison-biermer anemia addisonian anemia addisonian pernicious anaemia addisonian pernicious anemia addisons anemia anemia pernicious anemia pernicious type anemia, addison anemia, addison's anemia, addisonian pernicious anemia, addisons anemia, biermer anemia, pernicious [disease/finding] biermer's anaemia biermer's anemia malignant anemia megaloblastic anaemia due to impaired absorption of cobalamin megaloblastic anemia due to impaired absorption of cobalamin pa - pernicious anaemia pernicious anaemia pernicious anaemia (disorder) pernicious anemia pernicious anemia (disorder) pernicious anemia, nos
OMIM	OMIM:170900
DOID	DOID:13381
UMLS	C0002892
MeSH	D000752
SNOMED-CT	SNOMEDCT_US_2016_09_01:84027009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:46) C0017152 \| gastritis \| 8 C0042847 \| vitamin b12 defic \| 6 C0042847 \| vitamin b12 deficiency \| 6 C0011849 \| diabetes mellitus \| 4 C0011847 \| diabetes \| 4 C0011854 \| type 1 diabetes \| 3 C0042900 \| vitiligo \| 2 C0042847 \| cobalamin deficiency \| 2 C0920350 \| autoimmune thyroiditis \| 2 C0023890 \| cirrhosis \| 2 C0497327 \| dementia \| 2 C0008312 \| biliary cirrhosis \| 2 C0008312 \| primary biliary cirrhosis \| 2 C0011854 \| type 1 diabetes mellitus \| 2 C0002871 \| anemia \| 2 C0024523 \| malabsorption \| 2 C0002886 \| macrocytic anemia \| 2 C0040034 \| thrombocytopenia \| 1 C0034150 \| purpura \| 1 C0032357 \| poland syndrome \| 1 C0017154 \| atrophic gastritis \| 1 C0598608 \| hyperhomocysteinemia \| 1 C0241910 \| autoimmune hepatitis \| 1 C0002888 \| megaloblastic anaemia \| 1 C0003873 \| rheumatoid arthritis \| 1 C1565489 \| renal insufficiency \| 1 C0021053 \| immune disease \| 1 C0029456 \| osteoporosis \| 1 C0018801 \| heart failure \| 1 C0699791 \| gastric carcinoma \| 1 C0085292 \| stiff-person syndrome \| 1 C0040053 \| thrombosis \| 1 C0001418 \| adenocarcinoma \| 1 C0002170 \| alopecia \| 1 C0030312 \| pancytopenia \| 1 C0002171 \| alopecia areata \| 1 C0040128 \| thyroid disease \| 1 C0011854 \| insulin-dependent diabetes mellitus \| 1 C0019158 \| hepatitis \| 1 C0002871 \| anaemia \| 1 C0011854 \| insulin-dependent diabetes \| 1 C0001403 \| addison's disease \| 1 C0020676 \| hypothyroidism \| 1 C0001623 \| adrenal insufficiency \| 1 C0003864 \| arthritis \| 1 C0040147 \| thyroiditis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:31) 11093 \| ADAMTS13 \| 1.361 \| DISEASES 210 \| ALAD \| 1.294 \| DISEASES 773 \| CACNA1A \| 1.19 \| DISEASES 796 \| CALCA \| 1.432 \| DISEASES 56477 \| CCL28 \| 1.598 \| DISEASES 959 \| CD40LG \| 1.093 \| DISEASES 171425 \| CLYBL \| 3.164 \| DISEASES 8029 \| CUBN \| 1.128 \| DISEASES 2524 \| FUT2 \| 1.794 \| DISEASES 2520 \| GAST \| 6.132 \| DISEASES 3240 \| HP \| 2.174 \| DISEASES 3652 \| IPP \| 1.263 \| DISEASES 348120 \| LINC01193 \| 1.389 \| DISEASES 4221 \| MEN1 \| 2.501 \| DISEASES 50488 \| MINK1 \| 1.666 \| DISEASES 4548 \| MTR \| 2.312 \| DISEASES 143662 \| MUC15 \| 2.286 \| DISEASES 22861 \| NLRP1 \| 1.18 \| DISEASES 170685 \| NUDT10 \| 2.701 \| DISEASES 27445 \| PCLO \| 1.361 \| DISEASES 5225 \| PGC \| 1.263 \| DISEASES 26191 \| PTPN22 \| 1.287 \| DISEASES 5890 \| RAD51B \| 1.508 \| DISEASES 135250 \| RAET1E \| 1.583 \| DISEASES 6118 \| RPA2 \| 2.028 \| DISEASES 866 \| SERPINA6 \| 1.083 \| DISEASES 26136 \| TES \| 1.071 \| DISEASES 7018 \| TF \| 1.597 \| DISEASES 340061 \| TMEM173 \| 1.903 \| DISEASES 8718 \| TNFRSF25 \| 1.92 \| DISEASES 80149 \| ZC3H12A \| 1.915 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1153
Disease	anemia, pernicious
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0001889 \| Megaloblastic anemia HP:0200118 \| Malabsorption of Vitamin B12
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:34) HP:0005263 \| Gastritis \| 9 HP:0100502 \| Vitamin B12 deficiency \| 6 HP:0000819 \| Diabetes mellitus \| 4 HP:0001903 \| Anemia \| 3 HP:0002613 \| Biliary cirrhosis \| 2 HP:0001394 \| Hepatic cirrhosis \| 2 HP:0001972 \| Macrocytic anemia \| 2 HP:0001045 \| Blotchy loss of skin color \| 2 HP:0000726 \| Dementia \| 2 HP:0002024 \| Intestinal malabsorption \| 2 HP:0100646 \| Thyroiditis \| 2 HP:0005231 \| Chronic gastritis \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0100570 \| Carcinoid tumor \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0008207 \| Addison's disease \| 1 HP:0001596 \| Hair loss \| 1 HP:0001369 \| Arthritis \| 1 HP:0000846 \| Hypoadrenalism \| 1 HP:0001000 \| Pigmentary changes \| 1 HP:0001981 \| Schistocytosis \| 1 HP:0030731 \| Carcinoma \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0002229 \| Alopecia areata \| 1 HP:0000820 \| Thyroid abnormality \| 1 HP:0000822 \| Hypertension \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0001873 \| Low platelet count \| 1 HP:0000979 \| Purpura \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0001876 \| Low blood cell count \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1

Disease ID	1153
Disease	anemia, pernicious
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:20) C0017152 \| gastritis \| 9 C0042847 \| vitamin b12 deficiency \| 6 C0017154 \| autoimmune gastritis \| 3 C0002886 \| macrocytic anemia \| 2 C0349529 \| gastric carcinoid \| 2 C0024523 \| malabsorption \| 2 C0008312 \| primary biliary cirrhosis \| 2 C0042847 \| cobalamin deficiency \| 2 C0017154 \| atrophic gastritis \| 1 C0007095 \| carcinoid tumors \| 1 C0003873 \| rheumatoid arthritis \| 1 C0699791 \| gastric carcinoma \| 1 C0085662 \| macrocytosis \| 1 C1839611 \| n syndrome \| 1 C0007095 \| carcinoids \| 1 C0002888 \| megaloblastic anaemia \| 1 C0011854 \| insulin-dependent diabetes mellitus \| 1 C0029456 \| osteoporosis \| 1 C0598608 \| hyperhomocysteinemia \| 1 C0042900 \| vitiligo \| 1

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

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs3760776	25681243	2528	FUT6	umls:C0002892	BeFree	FUT6 (rs3760776) AA genotype was present in four (4.8%) autoimmune gastritis patients (all pernicious anaemia) and three (1.7%) controls (p = 0.007).	0.000271442	2015	FUT6	19	5839735	G	A
rs9606756	25681243	6948	TCN2	umls:C0002892	BeFree	A genetic variant of TCN2 (rs9606756) related to lower vitamin B12 levels was more frequent in pernicious anaemia patients compared to controls, showing the plausibility of genetic factors determining the possible clinical manifestation of autoimmune gastritis.	0.000542884	2015	TCN2	22	30610873	A	G

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

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

Mapped by lexical matching(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0200118	Malabsorption of Vitamin B12	MP:0004180	failure of initiation of embryo turning	failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage
HP:0001889	Megaloblastic anemia	MP:0001577	anemia	less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs

Mapped by homologous gene(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001889	Megaloblastic anemia	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0200118	Malabsorption of Vitamin B12	MP:0013504	increased embryonic tissue cell apoptosis	increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death

Disease ID	1153
Disease	anemia, pernicious
Case	(Waiting for update.)

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