Renal glucosuria
General Information (adopted from Orphanet):
| Synonyms, Signs: |
GLYCOSURIA, RENAL GLYS1 Familial renal glucosuria SGLT2 deficiency |
| Number of Symptoms | 10 |
| OrphanetNr: | 69076 |
| OMIM Id: |
233100
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| ICD-10: |
E74.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT Glucose transport disorder -Rare genetic disease Nephropathy secondary to a storage or other metabolic disease -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0000103) | Polyuria | 60 / 7739 | ||||
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(HPO:0010677) | Enuresis nocturna | Occasional [HPO:skoehler] | 7 / 7739 | |||
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(HPO:0003076) | Glycosuria | 32 / 7739 | ||||
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(HPO:0002591) | Polyphagia | 25 / 7739 | ||||
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(HPO:0001959) | Polydipsia | 43 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(OMIM) | Renal glucose wasting | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Extracellular volume depletion (rare, in severe cases only) | 1 / 7739 |
Associated genes:
| SLC5A2; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Patients with familial renal glucosuria have decreased renal tubular resorption of glucose form the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. Glucosuria in these patients can range from less than 1 to over ... |
| Clinical Description OMIM |
Monasterio et al. (1964) did microdissection and electron microscopy in 2 cases of renal glycosuria. Abnormality was limited to the proximal tubules, which showed vacuolization, accumulation of abnormal PAS-positive material, and changes in the brush border. Elsas and Rosenberg ... |
| Molecular genetics OMIM |
In a Turkish patient with autosomal recessive renal glucosuria, van den Heuvel et al. (2002) demonstrated homozygosity for a nonsense truncating mutation in the SLC5A2 gene (182381.0001). Yu et al. (2011) identified 5 novel mutations in the ... |