PedAM

Pediatric Disease Annotations & Medicines


	lactose intolerance

Disease ID	1008
Disease	lactose intolerance
Definition	The condition resulting from the absence or deficiency of LACTASE in the MUCOSA cells of the GASTROINTESTINAL TRACT, and the inability to break down LACTOSE in milk for ABSORPTION. Bacterial fermentation of the unabsorbed lactose leads to symptoms that range from a mild indigestion (DYSPEPSIA) to severe DIARRHEA. Lactose intolerance may be an inborn error or acquired.
Synonym	alactasia cow's milk enteropathy dairy product intolerance hypolactasia intolerance or malabsorption of lactose intolerance, lactose lactose intolerance (disorder) lactose intolerance [disease/finding] lactose malabsorption lactose: [intolerance] or [malabsorption] lactose: [intolerance] or [malabsorption] (disorder) lm - lactose malabsorption malabsorption, lactose milk intolerance milk intolerance (disorder) milk sugar intolerance
DOID	DOID:10604
UMLS	C0022951
MeSH	D007787
SNOMED-CT	SNOMEDCT_US_2016_09_01:700094005;SNOMEDCT_US_2016_09_01:267425008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:23) C0011991 \| diarrhea \| 5 C0022951 \| lactose intolerance \| 4 C0022104 \| irritable bowel \| 3 C0022104 \| irritable bowel syndrome \| 3 C0022951 \| lactose malabsorption \| 1 C0009324 \| ulcerative colitis \| 1 C0020550 \| hyperthyroidism \| 1 C0017160 \| gastroenteritis \| 1 C0156173 \| functional diarrhoea \| 1 C0021831 \| intestinal disease \| 1 C0017178 \| gastrointestinal disease \| 1 C0007570 \| celiac disease \| 1 C0020676 \| hypothyroid \| 1 C0017536 \| giardiasis \| 1 C0035309 \| retinopathy \| 1 C0024523 \| malabsorption \| 1 C0013369 \| infectious diarrhea \| 1 C0042109 \| urticaria \| 1 C0011991 \| diarrhoea \| 1 C0677607 \| hashimoto's thyroiditis \| 1 C0010068 \| coronary artery disease \| 1 C0040147 \| thyroiditis \| 1 C0022658 \| nephropathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) MCM6 \| 4175 \| GHR LCT \| 3938 \| GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 3938 \| LCT \| infer 4175 \| MCM6 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:55) 28954 \| REM1 \| DISEASES 479 \| ATP12A \| DISEASES 973 \| CD79A \| DISEASES 51056 \| LAP3 \| DISEASES 4246 \| SCGB2A1 \| DISEASES 51081 \| MRPS7 \| DISEASES 7166 \| TPH1 \| DISEASES 6927 \| HNF1A \| DISEASES 495 \| ATP4A \| DISEASES 22858 \| ICK \| DISEASES 11181 \| TREH \| DISEASES 4175 \| MCM6 \| DISEASES 3938 \| LCT \| DISEASES 6523 \| SLC5A1 \| DISEASES 2627 \| GATA6 \| DISEASES 150094 \| SIK1 \| DISEASES 5741 \| PTH \| DISEASES 5651 \| TMPRSS15 \| DISEASES 4645 \| MYO5B \| DISEASES 653361 \| NCF1 \| DISEASES 152185 \| SPICE1 \| DISEASES 213 \| ALB \| DISEASES 5055 \| SERPINB2 \| DISEASES 29123 \| ANKRD11 \| DISEASES 3906 \| LALBA \| DISEASES 1602 \| DACH1 \| DISEASES 2720 \| GLB1 \| DISEASES 3265 \| HRAS \| DISEASES 653499 \| LGALS7B \| DISEASES 10611 \| PDLIM5 \| DISEASES 6514 \| SLC2A2 \| DISEASES 23467 \| NPTXR \| DISEASES 2689 \| GH2 \| DISEASES 1447 \| CSN2 \| DISEASES 1811 \| SLC26A3 \| DISEASES 8794 \| TNFRSF10C \| DISEASES 987 \| LRBA \| DISEASES 5079 \| PAX5 \| DISEASES 1201 \| CLN3 \| DISEASES 55811 \| ADCY10 \| DISEASES 2312 \| FLG \| DISEASES 6566 \| SLC16A1 \| DISEASES 1376 \| CPT2 \| DISEASES 229 \| ALDOB \| DISEASES 23013 \| SPEN \| DISEASES 3274 \| HRH2 \| DISEASES 3963 \| LGALS7 \| DISEASES 3119 \| HLA-DQB1 \| DISEASES 3120 \| HLA-DQB2 \| DISEASES 7439 \| BEST1 \| DISEASES 9732 \| DOCK4 \| DISEASES 127933 \| UHMK1 \| DISEASES 10687 \| PNMA2 \| DISEASES 160728 \| SLC5A8 \| DISEASES 378805 \| LINC-PINT \| DISEASES
Locus	(Waiting for update.)

Disease ID	1008
Disease	lactose intolerance
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0002014 \| Diarrhea \| 5 HP:0004789 \| Lactose intolerance \| 4 HP:0001548 \| Overgrowth \| 2 HP:0002027 \| Abdominal pain \| 2 HP:0012531 \| Pain \| 2 HP:0100646 \| Thyroiditis \| 1 HP:0002608 \| Celiac disease \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0100279 \| Ulcerative colitis \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0001025 \| Hives \| 1 HP:0000112 \| Nephropathy \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0002024 \| Intestinal malabsorption \| 1

Disease ID	1008
Disease	lactose intolerance
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0426576 \| gastrointestinal symptoms \| 3 C0007570 \| celiac disease \| 1 C0011991 \| diarrhoea \| 1

Manually Genotype(Total Text Mining 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
rs1801725	18980667	3938	LCT	umls:C0022951	BeFree	We examined genetic polymorphisms that might influence calcium metabolism: lactase (LCT) gene 13910 C/T polymorphism causing lactose intolerance and calcium-sensing receptor (CaSR) gene A986S polymorphism as a responsible factor for the altered cellular calcium sensation.	0.075787292	2008	CASR	3	122284910	G	T
rs1801725	18980667	846	CASR	umls:C0022951	BeFree	We examined genetic polymorphisms that might influence calcium metabolism: lactase (LCT) gene 13910 C/T polymorphism causing lactose intolerance and calcium-sensing receptor (CaSR) gene A986S polymorphism as a responsible factor for the altered cellular calcium sensation.	0.000271442	2008	CASR	3	122284910	G	T

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:0)
(Waiting for update.)

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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