PedAM

Pediatric Disease Annotations & Medicines


	vitamin b12 deficiency

Disease ID	674
Disease	vitamin b12 deficiency
Definition	A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)
Synonym	b12 deficiency disease vitamin b12 deficiency vitamin b12 deficiency vitamins b12 vitamin deficiency cobalamin deficiency cobalamin deficiency (disorder) cyanocobalamin deficiency defic vitamin b 12 defic vitamin b12 deficiencies, vitamin b12 deficiency cobalamin deficiency of vitamin b 12 deficiency of vitamin b12 deficiency of vitamin b12 (disorder) deficiency of vitamin b₁₂ deficiency of vitamin b₁₂ (disorder) deficiency of vitamin b>12< deficiency of vitamin b>12< (disorder) deficiency vitamin b12 deficiency, vitamin b 12 deficiency, vitamin b12 of vitamin b 12 deficiency of vitamin b12 deficiency vitamin b 12 defic vitamin b 12 deficiency vitamin b 12 deficiency [disease/finding] vitamin b a 12 deficiency vitamin b12 defic vitamin b12 deficiencies vitamin b12 deficiency disease
DOID	DOID:8459 DOID:0050731
UMLS	C0042847
MeSH	D014806
SNOMED-CT	SNOMEDCT_US_2016_09_01:190634004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:46) C0002871 \| anemia \| 25 C0002871 \| anaemia \| 11 C0002888 \| megaloblastic anemia \| 8 C0002892 \| pernicious anemia \| 6 C0442874 \| neuropathy \| 5 C0002892 \| pernicious anaemia \| 3 C0002886 \| macrocytic anemia \| 3 C0011847 \| diabetes \| 3 C0020676 \| hypothyroidism \| 2 C0030312 \| pancytopenia \| 2 C0024523 \| malabsorption \| 2 C0002878 \| hemolytic anemia \| 2 C0011860 \| type 2 diabetes \| 2 C0259749 \| autonomic neuropathy \| 1 C0037928 \| myelopathy \| 1 C0026769 \| multiple sclerosis \| 1 C0016412 \| folic acid deficiency \| 1 C0037769 \| infantile spasms \| 1 C0034155 \| thrombotic thrombocytopenic purpura \| 1 C0032002 \| pituitary disorders \| 1 C0011570 \| depression \| 1 C0027947 \| neutropenia \| 1 C0027765 \| neurological disorder \| 1 C0085669 \| acute leukaemia \| 1 C0042847 \| vitamin b12 defic \| 1 C0009241 \| cognitive disorders \| 1 C0338451 \| frontotemporal dementia \| 1 C0497327 \| dementia \| 1 C0271650 \| glucose intolerance \| 1 C0004134 \| ataxia \| 1 C0029132 \| optic neuropathy \| 1 C0027022 \| myeloproliferative disorder \| 1 C0034150 \| purpura \| 1 C0027765 \| neurological disorders \| 1 C0598608 \| hyperhomocysteinemia \| 1 C0162429 \| malnutrition \| 1 C0162316 \| iron deficiency anemia \| 1 C0598608 \| hyperhomocysteinaemia \| 1 C0002888 \| megaloblastic anaemia \| 1 C0020538 \| hypertension \| 1 C0010346 \| crohn's disease \| 1 C0162316 \| iron-deficiency anemia \| 1 C0042075 \| urological disorders \| 1 C0027022 \| myeloproliferative disorders \| 1 C0024623 \| gastric cancer \| 1 C0011849 \| diabetes mellitus \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) TCN2 \| 6948 \| GHR ABCD4 \| 5826 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4524 \| MTHFR \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:108) 4710 \| NDUFB4 \| DISEASES 6948 \| TCN2 \| DISEASES 479 \| ATP12A \| DISEASES 9333 \| TGM5 \| DISEASES 1666 \| DECR1 \| DISEASES 973 \| CD79A \| DISEASES 57817 \| HAMP \| DISEASES 83892 \| KCTD10 \| DISEASES 4598 \| MVK \| DISEASES 7841 \| MOGS \| DISEASES 6301 \| SARS \| DISEASES 8997 \| KALRN \| DISEASES 3630 \| INS \| DISEASES 9509 \| ADAMTS2 \| DISEASES 376497 \| SLC27A1 \| DISEASES 2056 \| EPO \| DISEASES 1401 \| CRP \| DISEASES 10400 \| PEMT \| DISEASES 2694 \| GIF \| DISEASES 6947 \| TCN1 \| DISEASES 10993 \| SDS \| DISEASES 8836 \| GGH \| DISEASES 23531 \| MMD \| DISEASES 28965 \| SLC27A6 \| DISEASES 495 \| ATP4A \| DISEASES 4036 \| LRP2 \| DISEASES 79644 \| SRD5A3 \| DISEASES 10190 \| TXNDC9 \| DISEASES 56925 \| LXN \| DISEASES 3004 \| GZMM \| DISEASES 175 \| AGA \| DISEASES 1356 \| CP \| DISEASES 4552 \| MTRR \| DISEASES 150094 \| SIK1 \| DISEASES 635 \| BHMT \| DISEASES 4594 \| MUT \| DISEASES 27034 \| ACAD8 \| DISEASES 166785 \| MMAA \| DISEASES 7545 \| ZIC1 \| DISEASES 10841 \| FTCD \| DISEASES 3046 \| HBE1 \| DISEASES 114757 \| CYGB \| DISEASES 84283 \| TMEM79 \| DISEASES 213 \| ALB \| DISEASES 51084 \| CRYL1 \| DISEASES 81693 \| AMN \| DISEASES 10999 \| SLC27A4 \| DISEASES 51293 \| CD320 \| DISEASES 27249 \| MMADHC \| DISEASES 57215 \| THAP11 \| DISEASES 160065 \| PATE1 \| DISEASES 660 \| BMX \| DISEASES 5222 \| PGA5 \| DISEASES 2653 \| GCSH \| DISEASES 197322 \| ACSF3 \| DISEASES 643834 \| PGA3 \| DISEASES 3992 \| FADS1 \| DISEASES 23400 \| ATP13A2 \| DISEASES 286826 \| LIN9 \| DISEASES 2520 \| GAST \| DISEASES 6472 \| SHMT2 \| DISEASES 496 \| ATP4B \| DISEASES 2042 \| EPHA3 \| DISEASES 391 \| RHOG \| DISEASES 875 \| CBS \| DISEASES 3767 \| KCNJ11 \| DISEASES 79971 \| WLS \| DISEASES 3240 \| HP \| DISEASES 5826 \| ABCD4 \| DISEASES 26275 \| HIBCH \| DISEASES 7037 \| TFRC \| DISEASES 773 \| CACNA1A \| DISEASES 4540 \| MT-ND5 \| DISEASES 4538 \| MT-ND4 \| DISEASES 7052 \| TGM2 \| DISEASES 4548 \| MTR \| DISEASES 5406 \| PNLIP \| DISEASES 4923 \| NTSR1 \| DISEASES 55788 \| LMBRD1 \| DISEASES 1491 \| CTH \| DISEASES 6342 \| SCP2 \| DISEASES 11093 \| ADAMTS13 \| DISEASES 5225 \| PGC \| DISEASES 2356 \| FPGS \| DISEASES 1025 \| CDK9 \| DISEASES 3155 \| HMGCL \| DISEASES 4524 \| MTHFR \| DISEASES 3274 \| HRH2 \| DISEASES 8029 \| CUBN \| DISEASES 643847 \| PGA4 \| DISEASES 8573 \| CASK \| DISEASES 54790 \| TET2 \| DISEASES 2731 \| GLDC \| DISEASES 83650 \| SLC35G5 \| DISEASES 4155 \| MBP \| DISEASES 1130 \| LYST \| DISEASES 2524 \| FUT2 \| DISEASES 10840 \| ALDH1L1 \| DISEASES 25974 \| MMACHC \| DISEASES 7018 \| TF \| DISEASES 1719 \| DHFR \| DISEASES 83871 \| RAB34 \| DISEASES 846 \| CASR \| DISEASES 2994 \| GYPB \| DISEASES 3347 \| HTN3 \| DISEASES 326625 \| MMAB \| DISEASES 4522 \| MTHFD1 \| DISEASES 54938 \| SARS2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	674
Disease	vitamin b12 deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:47) HP:0001903 \| Anemia \| 36 HP:0001889 \| Megaloblastic anemia \| 8 HP:0001972 \| Macrocytic anemia \| 3 HP:0001891 \| Iron-deficiency anemia \| 2 HP:0000572 \| Visual loss \| 2 HP:0001263 \| Developmental retardation \| 2 HP:0001250 \| Seizures \| 2 HP:0001878 \| Haemolytic anaemia \| 2 HP:0000821 \| Underactive thyroid \| 2 HP:0001876 \| Low blood cell count \| 2 HP:0002024 \| Intestinal malabsorption \| 2 HP:0002071 \| Extrapyramidal dysfunction \| 1 HP:0000716 \| Depression \| 1 HP:0000833 \| Glucose intolerance \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0000953 \| Hyperpigmentation of the skin \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0000855 \| Insulin resistance \| 1 HP:0100022 \| Movement disorder \| 1 HP:0012444 \| Brain wasting \| 1 HP:0000822 \| Hypertension \| 1 HP:0001433 \| Enlarged liver and spleen \| 1 HP:0001945 \| Fever \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0000726 \| Dementia \| 1 HP:0001981 \| Schistocytosis \| 1 HP:0001251 \| Ataxia \| 1 HP:0001508 \| Weight faltering \| 1 HP:0002145 \| Frontotemporal dementia \| 1 HP:0004305 \| Involuntary muscle contractions \| 1 HP:0002072 \| Chorea \| 1 HP:0100561 \| Spinal cord lesion \| 1 HP:0001875 \| Neutropenia \| 1 HP:0002196 \| Myelopathy \| 1 HP:0002904 \| High blood bilirubin levels \| 1 HP:0000573 \| Retinal hemorrhage \| 1 HP:0012126 \| Gastric cancer \| 1 HP:0004395 \| Malnutrition \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0012469 \| Infantile spasms \| 1 HP:0005547 \| Myeloproliferative disorder \| 1 HP:0000979 \| Purpura \| 1 HP:0006827 \| Degeneration of the spinal cord \| 1 HP:0012378 \| Fatigue \| 1 HP:0012447 \| Abnormal myelination \| 1 HP:0000708 \| Behavioral problems \| 1

Disease ID	674
Disease	vitamin b12 deficiency
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:23) C0002871 \| anemia \| 25 C0002871 \| anaemia \| 11 C0002892 \| pernicious anemia \| 6 C0442874 \| neuropathy \| 5 C0002886 \| macrocytic anemia \| 3 C0233401 \| psychiatric symptoms \| 3 C0235031 \| neurological symptoms \| 3 C0024523 \| malabsorption \| 2 C0235031 \| neurologic symptoms \| 2 C0752303 \| urological manifestation \| 2 C0030312 \| pancytopenia \| 2 C0037928 \| myelopathy \| 1 C0026769 \| multiple sclerosis \| 1 C0221065 \| subacute combined degeneration \| 1 C0011206 \| delirium \| 1 C0027765 \| neurological disorders \| 1 C0002888 \| megaloblastic anaemia \| 1 C0029166 \| oral manifestations \| 1 C0497327 \| dementia \| 1 C0029132 \| optic neuropathy \| 1 C0598608 \| hyperhomocysteinemia \| 1 C0427086 \| involuntary movements \| 1 C0338451 \| frontotemporal dementia \| 1

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1805087	15063399	4548	MTR	umls:C0042847	BeFree	Finally, folate fortification unveiled cobalamin deficiency in some patients, associated with the methionine synthase A2756G mutation.	0.080542884	2004	MTR	1	236885200	A	G

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

GWASdb Snp Trait(Total Genotypes:7)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
5	145038831	rs10515552	T	C	rs10515552	22367966	4.00E-08	NA	43.93	[28.29-59.57] pg/ml increase	1,999 Han Chinese individuals	Han Chinese(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Vitamin B12 levels	HPOID:0004341	Abnormality of the vitamin B12 metabolism	DOID:0050731	vitamin B12 deficiency	D014806	Vitamin B 12 Deficiency	EFOID:0004620	vitamin b12 measurement	Metabolism disease	Malnutrition	NA	Research Support, Non-U.S. Gov't	T
9	32914589	rs12377462	C	T	rs12377462	22367966	2.00E-06	NA	28.53	[16.79-40.27] pg/ml increase	1,999 Han Chinese individuals	Han Chinese(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Vitamin B12 levels	HPOID:0004341	Abnormality of the vitamin B12 metabolism	DOID:0050731	vitamin B12 deficiency	D014806	Vitamin B 12 Deficiency	EFOID:0004620	vitamin b12 measurement	Metabolism disease	Malnutrition	NA	Research Support, Non-U.S. Gov't	T
11	59837192	rs2298585	C	T	rs2298585	22367966	3.00E-15	NA	71.8	[54.08-89.52] pg/ml increase	1,999 Han Chinese individuals	Han Chinese(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Vitamin B12 levels	HPOID:0004341	Abnormality of the vitamin B12 metabolism	DOID:0050731	vitamin B12 deficiency	D014806	Vitamin B 12 Deficiency	EFOID:0004620	vitamin b12 measurement	Metabolism disease	Malnutrition	NA	Research Support, Non-U.S. Gov't	C
13	100518634	rs41281112	C	T	rs41281112	22367966	9.00E-10	NA	83.6	[56.90-110.30] pg/ml decrease	1,999 Han Chinese individuals	Han Chinese(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Vitamin B12 levels	HPOID:0004341	Abnormality of the vitamin B12 metabolism	DOID:0050731	vitamin B12 deficiency	D014806	Vitamin B 12 Deficiency	EFOID:0004620	vitamin b12 measurement	Metabolism disease	Malnutrition	NA	Research Support, Non-U.S. Gov't	C
19	5839746	rs3760776	G	A	rs3760776	22367966	4.00E-13	NA	49.78	[36.41-63.15] pg/ml increase	1,999 Han Chinese individuals	Han Chinese(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Vitamin B12 levels	HPOID:0004341	Abnormality of the vitamin B12 metabolism	DOID:0050731	vitamin B12 deficiency	D014806	Vitamin B 12 Deficiency	EFOID:0004620	vitamin b12 measurement	Metabolism disease	Malnutrition	NA	Research Support, Non-U.S. Gov't	T
19	49206417	rs492602	A	G	rs492602	18776911	5.00E-17	NA	0.09	[0.07-0.11] pg/ml decrease	1,658 women	NOPOP(1658)	ALL(1658)	NOPOP(1658)	ALL(1658)	Vitamin B12 levels	HPOID:0004341	Abnormality of the vitamin B12 metabolism	DOID:0050731	vitamin B12 deficiency	D014806	Vitamin B 12 Deficiency	EFOID:0004620	vitamin b12 measurement	Metabolism disease	Malnutrition	rs492602-G	Research Support, N.I.H., Extramural	C
19	49206631	rs1047781	A	T	rs1047781	22367966	4.00E-36	NA	70.21	[59.37-81.05] pg/ml increase	1,999 Han Chinese individuals	Han Chinese(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Vitamin B12 levels	HPOID:0004341	Abnormality of the vitamin B12 metabolism	DOID:0050731	vitamin B12 deficiency	D014806	Vitamin B 12 Deficiency	EFOID:0004620	vitamin b12 measurement	Metabolism disease	Malnutrition	NA	Research Support, Non-U.S. Gov't	A

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

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

Chemical(Total Drugs:9)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0042847	s-adenosylmethionine	D012436	29908-03-0	vitamin b 12 deficiency	MESH:D014806	marker/mechanism	7527320
C0042847	chlorambucil	D002699	305-03-3	vitamin b 12 deficiency	MESH:D014806	marker/mechanism	15656036
C0042847	codeine	D003061	76-57-3	vitamin b 12 deficiency	MESH:D014806	marker/mechanism	17488670
C0042847	colchicine	D003078	64-86-8	vitamin b 12 deficiency	MESH:D014806	marker/mechanism	15656036
C0042847	cyclophosphamide	D003520	50-18-0	vitamin b 12 deficiency	MESH:D014806	marker/mechanism	15656036
C0042847	metformin	D008687	657-24-9	vitamin b 12 deficiency	MESH:D014806	marker/mechanism	10977010
C0042847	dextromethorphan	D003915	125-71-3	vitamin b 12 deficiency	MESH:D014806	marker/mechanism	17488670
C0042847	octreotide	D015282	83150-76-9	vitamin b 12 deficiency	MESH:D014806	marker/mechanism	2229321
C0042847	phenytoin	D010672	57-41-0	vitamin b 12 deficiency	MESH:D014806	marker/mechanism	188784

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

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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