Glucose-galactose malabsorption
Synonyms: CGGM · Congenital glucose-galactose malabsorption · GGM · SGLT1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glucose-galactose malabsorption | CGGM · Congenital glucose-galactose malabsorption · GGM · SGLT1 deficiency |
| fr | Malabsorption du glucose-galactose | Déficit en SGLT1 · Malabsorption congénitale du glucose-galactose |
| de | Glukose-Galaktose-Malabsorption | CGGM · GGM · Kongenitale Glukose-Galaktose-Malabsorption · SGLT1-Defizienz |
| es | Malabsorción de glucosa-galactosa | CGGM · Deficiencia de SGLT1 · GGM · MGG · Malabsorción congénita de glucosa-galactosa |
| it | Malassorbimento di glucosio-galattosio | CGGM · Malassorbimento congenito di glucosio-galattosio · GGM · Deficit di SGLT1 |
| nl | Glucose-galactosemalabsorptie | CGGM · Congenitale glucose-galactosemalabsorptie · GGM · SGLT1-deficiëntie |
| pt | Má absorção de glucose-galactose | |
| pl | Zaburzenia wchłaniania glukozy i galaktozy | Niedobór SGLT1 |
| cs | Malabsorpce glukózy a galaktózy | Deficit SGLT1 |
| uk | Глюкозо-галактозна мальабсорбція | Дефіцит SGLT1 |
| zh | 葡葡糖-半乳糖吸收不良症 | SGLT1缺乏症 |
| tr | Glukoz-galaktoz malabsorpsiyonu | SGLT1 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606824 | E | validated | |
| ICD-10 | E74.3 | NTBT | inclusion | validated |
| ICD-11 | 5C61.0 | E | specific | validated |
| MONDO | 0011731 | E | validated | |
| MeSH | C562602 | E | validated | |
| UMLS | C0268186 | E | validated | |
| GARD | 6521 | E | validated | |
| MedDRA | 10066388 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:104003Congenital intestinal transport defect
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:79178Glucose transport disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC5A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11036 | ENSG00000100170 | 182380 | 22q12.3 | solute carrier family 5 member 1 | 8563765[PMID]_12139397[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_22843301[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.22 / 100 000 | France | Value and class | Validated | 23107089[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
15 annotations · validated 2021-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001944 | Dehydration | |
| HP:0002014 | Diarrhea | |
| HP:0001508 | Failure to thrive | |
| HP:0033310 | Osmotic diarrhea | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0003228 | Hypernatremia | |
| HP:0004395 | Malnutrition | |
| Occasional (29-5%) | ||
| HP:0030143 | Hyperactive bowel sounds | |
| HP:0003072 | Hypercalcemia | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000083 | Renal insufficiency | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0001945 | Fever | |
| HP:0000790 | Hematuria | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 32946683[PMID]_20486940[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35710
- This record as JSON: /data/d/35710.json