PedAM

Pediatric Disease Annotations & Medicines


	beriberi

Disease ID	1533
Disease	beriberi
Definition	A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed)
Synonym	beri beri beri-beri beriberi (disorder) beriberi [disease/finding] beriberi, nos bery bery endemic polyneuritis polyneuritis, endemic thiamine deficiency vitamin b1 deficiency
DOID	DOID:13725 DOID:2385
UMLS	C0005122
MeSH	D001602 D013832
SNOMED-CT	SNOMEDCT_US_2016_09_01:36656008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:43) C0043121 \| wernicke's encephalopathy \| 8 C0005122 \| beriberi \| 5 C0349464 \| wernicke-korsakoff syndrome \| 3 C0349464 \| korsakoff syndrome \| 3 C0001125 \| lactic acidosis \| 3 C0152025 \| polyneuropathy \| 3 C0011847 \| diabetes \| 3 C0018801 \| heart failure \| 3 C0043121 \| wernicke encephalopathy \| 3 C0162429 \| malnutrition \| 2 C0442874 \| neuropathy \| 2 C0001973 \| alcoholism \| 2 C0018801 \| cardiac failure \| 2 C0027765 \| neurological disorder \| 2 C0014544 \| epilepsy \| 1 C0004134 \| ataxia \| 1 C0029132 \| optic neuropathy \| 1 C0010346 \| crohn's disease \| 1 C0027765 \| neurological disorders \| 1 C0027765 \| neurologic disorder \| 1 C0039841 \| thiamine deficiency \| 1 C0018799 \| cardiopathy \| 1 C0011854 \| type 1 diabetes \| 1 C0024523 \| malabsorption syndrome \| 1 C0043207 \| wolfram syndrome \| 1 C0029089 \| ophthalmoplegia \| 1 C0270921 \| axonal neuropathy \| 1 C0009806 \| constipation \| 1 C0027813 \| neuritis \| 1 C0011854 \| type 1 diabetes mellitus \| 1 C0024523 \| malabsorption \| 1 C0013473 \| eating disorder \| 1 C0039841 \| thiamin deficiency \| 1 C0042075 \| urological disorders \| 1 C0011849 \| diabetes mellitus \| 1 C0018802 \| congestive heart failure \| 1 C0036992 \| short bowel syndrome \| 1 C0024523 \| malabsorption syndromes \| 1 C0011991 \| diarrhea \| 1 C0878544 \| cardiomyopathy \| 1 C0006111 \| brain disorder \| 1 C0162429 \| nutritional deficiency \| 1 C0007193 \| dilated cardiomyopathy \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:28) 2273 \| FHL1 \| DISEASES 10560 \| SLC19A2 \| DISEASES 8997 \| KALRN \| DISEASES 2694 \| GIF \| DISEASES 80704 \| SLC19A3 \| DISEASES 793 \| CALB1 \| DISEASES 100996939 \| PYURF \| DISEASES 3060 \| HCRT \| DISEASES 213 \| ALB \| DISEASES 6010 \| RHO \| DISEASES 660 \| BMX \| DISEASES 171389 \| NLRP6 \| DISEASES 1375 \| CPT1B \| DISEASES 27319 \| BHLHE22 \| DISEASES 60386 \| SLC25A19 \| DISEASES 26061 \| HACL1 \| DISEASES 2042 \| EPHA3 \| DISEASES 2804 \| GOLGB1 \| DISEASES 4151 \| MB \| DISEASES 2316 \| FLNA \| DISEASES 8277 \| TKTL1 \| DISEASES 958 \| CD40 \| DISEASES 8671 \| SLC4A4 \| DISEASES 7086 \| TKT \| DISEASES 9498 \| SLC4A8 \| DISEASES 503542 \| SPRN \| DISEASES 8972 \| MGAM \| DISEASES 162514 \| TRPV3 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1533
Disease	beriberi
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:30) HP:0001298 \| Encephalopathy \| 9 HP:0001635 \| Congestive heart failure \| 5 HP:0001941 \| acidemia \| 3 HP:0002615 \| Low blood pressure \| 3 HP:0003128 \| Lactic acidosis \| 3 HP:0001271 \| Polyneuropathy \| 3 HP:0004395 \| Malnutrition \| 2 HP:0001942 \| Metabolic acidosis \| 2 HP:0000969 \| Dropsy \| 2 HP:0002024 \| Intestinal malabsorption \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0007133 \| Progressive peripheral neuropathy \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0030149 \| Cardiovascular shock \| 1 HP:0001289 \| Confusion \| 1 HP:0002171 \| Cerebral gliosis \| 1 HP:0002014 \| Diarrhea \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0002019 \| Dyschezia \| 1 HP:0001548 \| Overgrowth \| 1 HP:0000602 \| Ophthalmoplegia \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0007178 \| Motor polyneuropathy \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0001251 \| Ataxia \| 1 HP:0003477 \| Peripheral axonal neuropathy \| 1 HP:0001824 \| Weight loss \| 1

Disease ID	1533
Disease	beriberi
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:11) C0085584 \| encephalopathy \| 9 C0043121 \| wernicke's encephalopathy \| 8 C0001125 \| lactic acidosis \| 3 C0018801 \| heart failure \| 3 C0002622 \| amnesia \| 2 C0152025 \| polyneuropathy \| 2 C0005122 \| beriberi \| 2 C0025517 \| metabolic disease \| 1 C0221505 \| brain lesions \| 1 C0027765 \| neurologic disorder \| 1 C0018802 \| congestive heart failure \| 1

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

All Snps(Total Genotypes:0)
(Waiting for update.)

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:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0005122	fluorouracil	D005472	51-21-8	thiamine deficiency	MESH:D013832	marker/mechanism	21941485

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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