FANCONI RENOTUBULAR SYNDROME 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FRTS3 |
| Number of Symptoms | 12 |
| OrphanetNr: | |
| OMIM Id: |
615605
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| ICD-10: |
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| 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 dominant |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Comment:
| Renal Fanconi’s syndrome was inherited in an autosomal dominant fashion in a extended black family, one family has been reported. A heterozygous missense mutation in EHHADH segregated with the disease. This p.E3K mutation created a new mitochondrial targeting motif in the N-terminal portion of EHHADH. The authors propose that mistargeting of p.E3K mutant EHHADH to mitochondria, in a dominant negative fashion, is the disease-causing mechanism. |
Symptom Information:
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(HPO:0002909) | Generalized aminoaciduria | 24401050 | IBIS | 13 / 7739 | ||
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(HPO:0003076) | Glycosuria | 24401050 | IBIS | 32 / 7739 | ||
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(HPO:0000124) | Renal tubular dysfunction | 24401050 | IBIS | 46 / 7739 | ||
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(HPO:0003109) | Hyperphosphaturia | 24401050 | IBIS | 18 / 7739 | ||
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(HPO:0000114) | Proximal tubulopathy | 24401050 | IBIS | 18 / 7739 | ||
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(HPO:0000117) | Renal phosphate wasting | 24401050 | IBIS | 14 / 7739 | ||
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(HPO:0003126) | Low-molecular-weight proteinuria | 24401050 | IBIS | 7 / 7739 | ||
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(HPO:0002979) | Bowing of the legs | 24401050 | IBIS | 28 / 7739 | ||
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(HPO:0002748) | Rickets | 24401050 | IBIS | 41 / 7739 | ||
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(HPO:0001510) | Growth delay | 24401050 | IBIS | 295 / 7739 | ||
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(HPO:0001942) | Metabolic acidosis | 24401050 | IBIS | 81 / 7739 | ||
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(MedDRA:10018361) | Glomerular filtration rate normal | 24401050 | IBIS | 1 / 7739 |
Associated genes:
| EHHADH; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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