eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital lactase deficiency | ||||
| Disease ID | 1296 |
|---|---|
| Disease | congenital lactase deficiency |
| Synonym | alactasia, congenital cld - congenital lactase deficiency congenital alactasia congenital alactasia syndrome congenital lactase deficiency (disorder) congenital lactose intolerance congenital lactose malabsorption disaccharide intolerance ii lactase deficiency, congenital |
| Orphanet | |
| OMIM | |
| ICD10 | |
| UMLS | C0268179 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) LCT | 2q21.3 |
| Disease ID | 1296 |
|---|---|
| Disease | congenital lactase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0002014 | Diarrhea HP:0001942 | Metabolic acidosis HP:0001944 | Dehydration HP:0004789 | Lactose intolerance |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1296 |
|---|---|
| Disease | congenital lactase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0027709 | nephrocalcinosis |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908936 | NA | 3938 | LCT | umls:C0268179 | CLINVAR | NA | 0.48 | NA | LCT | 2 | 135807131 | A | T |
| rs121908937 | NA | 3938 | LCT | umls:C0268179 | CLINVAR | NA | 0.48 | NA | LCT | 2 | 135829593 | C | G |
| rs386833832 | NA | 3938 | LCT | umls:C0268179 | CLINVAR | NA | 0.48 | NA | LCT | 2 | 135817352 | CCACT | - |
| rs386833833 | NA | 3938 | LCT | umls:C0268179 | CLINVAR | NA | 0.48 | NA | LCT | 2 | 135807214 | C | T |
| rs386833834 | NA | 3938 | LCT | umls:C0268179 | CLINVAR | NA | 0.48 | NA | LCT | 2 | 135804812 | G | C,A |
| rs386833835 | NA | 3938 | LCT | umls:C0268179 | CLINVAR | NA | 0.48 | NA | LCT | 2 | 135800639 | C | A |
| rs386833836 | NA | 3938 | LCT | umls:C0268179 | CLINVAR | NA | 0.48 | NA | LCT | 2 | 135794751 | CTCA | - |
| rs386833837 | NA | 3938 | LCT | umls:C0268179 | CLINVAR | NA | 0.48 | NA | LCT | 2 | 135789747 | T | - |
| rs386833838 | NA | 3938 | LCT | umls:C0268179 | CLINVAR | NA | 0.48 | NA | LCT | 2 | 135833177 | AG | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001942 | Metabolic acidosis | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
Mapped by homologous gene(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004789 | Lactose intolerance | MP:0011091 | prenatal lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5) |
| HP:0001942 | Metabolic acidosis | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0001944 | Dehydration | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 1296 |
|---|---|
| Disease | congenital lactase deficiency |
| Case | (Waiting for update.) |