loading...| Preferred Name |
GLUCOSE/GALACTOSE MALABSORPTION |
|
| Synonyms |
GM |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/606824 |
|
| altLabel |
GM MONOSACCHARIDE MALABSORPTION GGM |
|
| cui |
C0268186 |
|
| Gene Locus |
22q13.1 |
|
| Gene Symbol |
SLC5A1 SGLT1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU005319 http://purl.bioontology.org/ontology/OMIM/MTHU003816 http://purl.bioontology.org/ontology/OMIM/MTHU003813 http://purl.bioontology.org/ontology/OMIM/MTHU003814 http://purl.bioontology.org/ontology/OMIM/MTHU003818 http://purl.bioontology.org/ontology/OMIM/MTHU003815 http://purl.bioontology.org/ontology/OMIM/MTHU036658 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
606824 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
GLUCOSE/GALACTOSE MALABSORPTION |
|
| Scope Statement |
May be lethal if untreated [MISCELLANEOUS] High incidence among Old Order Amish [MISCELLANEOUS] Diarrhea persists even with vigorous nursing [MISCELLANEOUS] Caused by mutation in the intestinal sodium/glucose transporter gene (SLC5A1, 182380.0001) [MOLECULAR BASIS] Onset in first days of life [MISCELLANEOUS] Patients gradually develop tolerance to carbohydrates over time [MISCELLANEOUS] Dramatic improvement with proper treatment [MISCELLANEOUS] |
|
| tui |
T047 T019 |