Familial renal glucosuria
Synonyms: Familial renal glycosuria · SGLT2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial renal glucosuria | Familial renal glycosuria · SGLT2 deficiency |
| fr | Glucosurie rénale familiale | Déficit en SGLT2 · Glycosurie rénale familiale |
| de | Renale Glukosurie, familiäre | Renale Glukosurie, hereditäre Form · SGLT2-Defizienz · SGLT2-Mangel |
| es | Glucosuria renal familiar | Deficiencia de SGLT2 · Glicosuria renal familiar |
| it | Glucosuria renale familiare | Glucosuria renale familiare |
| nl | Familiale renale glucosurie | Familiale renale glycosurie · SGLT2-deficiëntie |
| pt | Glicosúria renal | Glicosúria renal familiar |
| pl | Rodzinna glikozuria nerkowa | Niedobór SGLT2 |
| cs | Renální glykosurie | Familiární renální glykosurie · Deficit SGLT2 |
| uk | Сімейна ниркова глюкозурія | Сімейна ниркова глікозурія · Дефіцит SGLT2 |
| zh | 家族性肾性葡糖尿症 | 家族性肾性糖尿 |
| tr | Ailesel renal glukozüri | SGLT2 eksikliği · Ailesel böbrek glikozüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 233100 | E | validated | |
| ICD-10 | E74.8 | NTBT | inclusion | validated |
| ICD-11 | 5C61.5 | NTBT | index | validated |
| MONDO | 0009297 | E | validated | |
| UMLS | C3245525 | E | validated | |
| GARD | 7548 | E | validated | |
| MedDRA | 10073689 | 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:79178Glucose transport disorder
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC5A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11037 | ENSG00000140675 | 182381 | 16p11.2 | solute carrier family 5 member 2 | 14614622[PMID]_21165652[PMID]_24255686[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
13 annotations · validated 2021-09-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003076 | Glycosuria | Diagnostic criterion |
| HP:0000112 | Nephropathy | |
| HP:0000124 | Renal tubular dysfunction | |
| Occasional (29-5%) | ||
| HP:0001944 | Dehydration | |
| HP:0001946 | Ketosis | |
| HP:0008855 | Moderate postnatal growth retardation | |
| HP:0000010 | Recurrent urinary tract infections | |
| Excluded (0%) | ||
| HP:0040214 | Abnormal circulating insulin concentration | Diagnostic criterion |
| HP:0004924 | Abnormal oral glucose tolerance | Diagnostic criterion |
| HP:0040217 | Elevated hemoglobin A1c | Diagnostic criterion |
| HP:0000805 | Enuresis | |
| HP:0003074 | Hyperglycemia | Diagnostic criterion |
| HP:0000855 | Insulin resistance | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 29110414[PMID]_30942416[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69076
- This record as JSON: /data/d/69076.json