loading...| Preferred Name |
Glucose-galactose malabsorption |
|
| Synonyms |
SGLT1 deficiency |
|
| Definitions |
A rare, potentially lethal, autosomal recessive metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset in the neonatal period. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_35710 |
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| alternative_term |
SGLT1 deficiency |
|
| definition |
A rare, potentially lethal, autosomal recessive metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset in the neonatal period. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 |
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| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
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| hasDbXref |
UMLS:C0268186 ICD-10:E74.3 MedDRA:10066388 OMIM:606824 ICD-11:5C61.0 MeSH:C562602 |
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| label |
Glucose-galactose malabsorption |
|
| notation |
ORPHA:35710 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_35710 |
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| prefLabel |
Glucose-galactose malabsorption |
|
| present_in |
France AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |