ORPHA:3337
Primary Fanconi renotubular syndrome
Synonyms: DeToni-Debré-Fanconi syndrome · Primary Fanconi renal syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary Fanconi renotubular syndrome | DeToni-Debré-Fanconi syndrome · Primary Fanconi renal syndrome |
| fr | Syndrome de Fanconi primitif rénotubulaire | Syndrome de De Toni-Debré-Fanconi · Syndrome de Fanconi primaire rénal · Syndrome de Fanconi primaire rénotubulaire · Syndrome de Fanconi primitif rénal |
| de | Renotubuläres Fanconi-Syndrom, primäres | Renales Fanconi-Syndrom, primäres · Toni-Debré-Fanconi-Syndrom |
| es | Síndrome de Fanconi primario renotubular | Síndrome de DeToni-Debré-Fanconi · Síndrome de Fanconi primario renal |
| it | Sindrome di Fanconi renotubulare primitiva | Sindrome renotubulare di Fanconi primitiva |
| nl | Primair renotubulair syndroom van Fanconi | Primair renaal syndroom van Fanconi · Syndroom van DeToni-Debré-Fanconi |
| pt | Síndrome Fanconi primário renotubular | Síndrome Fanconi primária renal · Síndrome Toni-Debré-Fanconi |
| pl | Pierwotny zespół Fanconiego | Pierwotny zespół nerkowo-kanalikowy Fanconiego |
| cs | Primární Fanconiho syndrom | Primární Fanconiho renotubulární syndrom |
| uk | Первинний ренотубулярний синдром Фанконі | Синдром ДеТоні-Дебре-Фанконі · Первинний нирковий синдром Фанконі |
| zh | 原发性范可尼肾小管综合征 | 原发性范可尼肾综合征 |
| tr | Primer Fankoni renotubular sendromu | DeToni-Debré-Fanconi sendromu · Primer Fanconi böbrek sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 134600 | E | validated | |
| OMIM | 613388 | BTNT | validated | |
| OMIM | 615605 | BTNT | validated | |
| OMIM | 618913 | BTNT | validated | |
| ICD-10 | E72.0 | NTBT | inclusion | validated |
| ICD-11 | GB90.42 | E | specific | validated |
| UMLS | C1857395 | E | validated | |
| GARD | 9118 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93603Rare renal tubular disease
rare renal diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC34A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11019 | ENSG00000131183 | 182309 | 5q35.3 | solute carrier family 34 member 1 | 20335586[PMID] |
| EHHADH | Disease-causing germline mutation(s) in | Assessed | HGNC:3247 | ENSG00000113790 | 607037 | 3q27.2 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | 24401050[PMID] |
| GATM | Disease-causing germline mutation(s) in | Assessed | HGNC:4175 | ENSG00000171766 | 602360 | 15q21.1 | glycine amidinotransferase | 29654216[PMID] |
| NDUFAF6 | Disease-causing germline mutation(s) in | Assessed | HGNC:28625 | ENSG00000156170 | 612392 | 8q22.1 | NADH:ubiquinone oxidoreductase complex assembly factor 6 | 27466185[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
29 annotations · validated 2021-01-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0032943 | Abnormal urine pH | |
| HP:0004910 | Bicarbonate-wasting renal tubular acidosis | |
| HP:0003646 | Bicarbonaturia | |
| HP:0002909 | Generalized aminoaciduria | |
| HP:0003076 | Glycosuria | |
| HP:0001510 | Growth delay | |
| HP:0004918 | Hyperchloremic metabolic acidosis | |
| HP:0003149 | Hyperuricosuria | |
| HP:0003126 | Low-molecular-weight proteinuria | |
| HP:0002049 | Proximal renal tubular acidosis | |
| HP:0000117 | Renal phosphate wasting | |
| Frequent (79-30%) | ||
| HP:0002653 | Bone pain | |
| HP:0012622 | Chronic kidney disease | |
| HP:0003234 | Decreased circulating carnitine concentration | |
| HP:0002900 | Hypokalemia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0004912 | Hypophosphatemic rickets | |
| HP:0003537 | Hypouricemia | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0003081 | Increased urinary potassium | |
| HP:0001324 | Muscle weakness | |
| HP:0002749 | Osteomalacia | |
| HP:0012606 | Renal sodium wasting | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0001944 | Dehydration | |
| HP:0002150 | Hypercalciuria | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| Very rare (<4-1%) | ||
| HP:0001943 | Hypoglycemia | |
| HP:0002206 | Pulmonary fibrosis | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 30454741[PMID]_33283647[PMID]_31474092[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3337
- This record as JSON: /data/d/3337.json