Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Synonyms: FHHNC without severe ocular involvement · HOMG3 · Renal hypomagnesemia type 3
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement | FHHNC without severe ocular involvement · HOMG3 · Renal hypomagnesemia type 3 |
| fr | Hypomagnésémie primaire avec hypercalciurie et néphrocalcinose sans atteinte oculaire sévère | FHHNC sans atteinte oculaire sévère · HOMG3 · Hypomagnésémie rénale type 3 |
| de | Familiäre Hypomagnesiämie mit Hyperkalziurie und Nephrokalzinose ohne schwere Augenbeteiligung | FHHNC ohne schwere Augenbeteiligung · HOMG3 · Hypomagnesiämie, renale, Typ 3 |
| es | Hipomagnesemia primaria con hipercalciuria y nefrocalcinosis sin afectación ocular grave | FHHNC sin afectación ocular grave · HOMG3 · Hipomagnesemia renal tipo 3 |
| it | Ipomagnesemia primitiva con ipercalciuria e nefrocalcinosi senza interessamento oculare grave | FHHNC senza coinvolgimento oculare grave · HOMG3 · Ipomagnesemia renale tipo 3 |
| nl | Primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose zonder ernstige oculaire betrokkenheid | FHHNC zonder ernstige oculaire betrokkenheid · HOMG3 · Renale hypomagnesiëmie type 3 |
| pt | Hipomagnesemia primária com hipercalciúria e nefrocalcinose sem envolvimento ocular grave | FHHNC sem envolvimento ocular grave · HOMG3 · Hipomagnesemia renal tipo 3 |
| pl | Pierwotna hipomagnezemia rodzinna z hiperkalciurią i nefrokalcynozą bez ciężkiego uszkodzenia oczu | FHHNC bez poważnych zmian narządu wzroku · Hipomagnezemia nerkowa typu 3 · HOMG3 · Pierwotna hipomagnezemia z hipekalciurią i nefrokalcynozą bez ciężkiego zajęcia oczu |
| cs | Primární hypomagnezémie s hyperkalciurií a nefrokalcinózou bez těžkého postižení očí | HOMG3 · Renální hypomagnezémie, typ 3 · FHHNC bez těžké oční poruchy |
| uk | Первинна гіпомагніємія з гіперкальціурією та нефрокальцинозом без тяжкого ураження очей | FHHNC без тяжкого ураження очей · HOMG3 · Ниркова гіпомагніємія типу 3 |
| zh | 家族原发性低镁血症合并高钙尿症和肾钙质沉着症不伴严重眼部累及 | FHHNC不伴严重眼部累及 |
| tr | Ailesel primer hipomagnezemi, hiperkalsiüri ve ağır oküler tutulumu olmayan nefrokalsinoz | HOMG3 · Böbrek hipomagnezemi tip 3 · Ağır oküler tutulumu ile seyretmeyen FHHNC |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248250 | E | validated | |
| ICD-10 | E83.4 | NTBT | attributed | validated |
| ICD-11 | 5C64.41 | NTBT | index | validated |
| MONDO | 0009550 | E | validated | |
| UMLS | C4511528 | E | validated | |
| GARD | 2906 | 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 (1):
- ORPHA:306516Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLDN16 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2037 | ENSG00000113946 | 603959 | 3q28 | claudin 16 | 18816383[PMID]_11518780[PMID]_10878661[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 110 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Europe | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/31043
- This record as JSON: /data/d/31043.json