Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Synonyms: FHHNC · Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis · Michellis-Castrillo syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis | FHHNC · Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis · Michellis-Castrillo syndrome |
| fr | Hypomagnésémie primaire avec hypercalciurie et néphrocalcinose | FHHNC · Hypomagnésémie primaire familiale avec hypercalciurie et néphrocalcinose · Syndrome de Michellis-Castrillo |
| de | Primäre Hypomagnesiämie mit Hyperkalziurie und Nephrokalzinose | FHHNC · Familiäre primäre Hypomagnesiämie mit Hyperkalziurie und Nephrokalzinose · Michellis-Castrillo-Syndrom |
| es | Hipomagnesemia primaria con hipercalciuria y nefrocalcinosis | FHHNC · Hipomagnesemia primaria familiar con hipercalciuria y nefrocalcinosis · Síndrome de Michellis-Castrillo |
| it | Ipomagnesemia primitiva con ipercalciuria e nefrocalcinosi | FHHNC · Ipomagnesemia primitiva familiare con ipercalciuria e nefrocalcinosi · Sindrome di Michellis-Castrillo |
| nl | Primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose | FHHNC · Familiale primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose · Syndroom van Michellis-Castrillo |
| pt | Hipomagnesemia primária com hipercalciúria e nefrocalcinose | FHHNC · Hipomagnesemia primária familiar com hipercalciúria e nefrocalcinose · Síndrome Michellis-Castrillo |
| pl | Pierwotna hipomagnezemia z hiperkalciurią i nefrokalcynozą | FHHNC · Zespół Michellisa i Castrillo · Pierwotna hipomagnezemia z hipekalciurią i nefrokalcynozą |
| cs | Primární hypomagnézie s hyperkalciurií a nefrokalcinózou | FHHNC · Michellisův-Castrillův syndrom · Michellis-Castrillův syndrom |
| uk | Первинна гіпомагніємія з гіперкальціурією та нефрокальцинозом | Сімейна первинна гіпомагніємія з гіперкальціурією та нефрокальцинозом · FHHNC · Синдром Мічелліса-Кастрілло |
| zh | 家族性原发性低镁血症伴高钙尿症和肾钙质沉着症 | Michellis-Castrillo综合征 |
| tr | Hiperkalsiüri ve nefrokalsinoz ile seyreden ailesel primer hipomagnezemi | FHHNC · Michellis-Castrillo sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E83.4 | NTBT | attributed | validated |
| ICD-11 | 5C64.41 | NTBT | attributed | validated |
| MONDO | 0017624 | E | validated | |
| UMLS | C5679977 | 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 (4):
- ORPHA:309848Disorder of magnesium transport
rare inborn errors of metabolism; rare genetic diseases - 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
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CLDN16 | ORPHA:31043Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2037 | ENSG00000113946 | 603959 | 3q28 | claudin 16 | 18816383[PMID]_11518780[PMID]_10878661[PMID] |
| CLDN19 | ORPHA:2196Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | Disease-causing germline mutation(s) in | Assessed | HGNC:2040 | ENSG00000164007 | 610036 | 1p34.2 | claudin 19 | 17033971[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | 23334384[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/306516
- This record as JSON: /data/d/306516.json