Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome | |
| fr | Syndrome de Fanconi atypique-hyperinsulinisme néonatal | |
| de | Atypisches Fanconi-Syndrom-neonataler Hyperinsulinismus-Syndrom | |
| es | Síndrome de Fanconi atípico-hiperinsulinismo neonatal | |
| it | Sindrome di Fanconi atipica associata a iperinsulinismo neonatale | |
| nl | Atypisch syndroom van Fanconi - neonataal hyperinsulinisme-syndroom | |
| pt | Síndrome de Fanconi atípico-hiperinsulinismo neonatal | |
| pl | Zespół Fanconiego atypowy z zespołem hiperinsulinizmu noworodkowego | |
| cs | Syndrom zahrnující atypický Fanconiho syndrom a neonatální hyperinzulinismus | |
| uk | Атиповий синдром Фанконі - синдром неонатального гіперінсулінізму | |
| zh | 非典型范可尼综合征-新生儿高胰岛素血症综合征 | |
| tr | Atipik Fanconi sendromu-yenidoğan hiperinsülinizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616026 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| ICD-11 | GB90.42 | NTBT | attributed | validated |
| MONDO | 0034110 | E | validated | |
| UMLS | C5681324 | 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 (6):
- ORPHA:276525Familial hyperinsulinism
rare genetic diseases; rare endocrine diseases - ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:181376Rare diabetes mellitus type 2
rare endocrine diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HNF4A | Disease-causing germline mutation(s) in | Assessed | HGNC:5024 | ENSG00000101076 | 600281 | 20q13.12 | hepatocyte nuclear factor 4 alpha | 24285859[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24285859[PMID] |
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 24285859[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/544628
- This record as JSON: /data/d/544628.json