ORPHA:2196
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Synonyms: FHHNC with severe ocular involvement · Hypercalciuria-bilateral macular coloboma syndrome · Meier-Blumberg-Imahorn syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | FHHNC with severe ocular involvement · Hypercalciuria-bilateral macular coloboma syndrome · Meier-Blumberg-Imahorn syndrome |
| fr | Hypomagnésémie primaire avec hypercalciurie et néphrocalcinose avec atteinte oculaire sévère | FHHNC avec atteinte oculaire sévère · Syndrome d'hypercalciurie-colobome bilatéral de la rétine · Syndrome de Meier-Blumberg-Imahorn |
| de | Primäre Hypomagnesiämie mit Hyperkalziurie, Nephrokalzinoseund schwerer Augenbeteiligung | FHHNC mit schwerer Augenbeteiligung · Hyperkalziurie-bilaterales Makulakolobom-Syndrom · Meier-Blumberg-Imahorn-Syndrom |
| es | Hipomagnesemia primaria con hipercalciuria y nefrocalcinosis con afectación ocular grave | FHHNC con afectación ocular grave · Síndrome de Meier-Blumberg-Imahorn · Síndrome de hipercalciuria-coloboma macular bilateral |
| it | Ipomagnesemia primitiva familiare con ipercalciuria e nefrocalcinosi con coinvolgimento oculare grave | FHHNC con coinvolgimento oculare grave · Sindrome da ipercalciuria e coloboma maculare bilaterale · Sindrome di Meier-Blumberg-Imahorn |
| nl | Primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose met ernstige oculaire betrokkenheid | FHHNC met ernstige oculaire betrokkenheid · Hypercalciurie - bilateraal maculacoloboom-syndroom · Syndroom van Meier-Blumberg-Imahorn |
| pt | Hipomagnesemia primária com hipercalciúria e nefrocalcinose com envolvimento ocular grave | FHHNC com envolvimento ocular grave · Síndrome Meier-Blumberg-Imahorn · Síndrome de hipercalciúria-coloboma macular bilateral |
| pl | Pierwotna hipomagnezemia rodzinna z hiperkalciurią i nefrokalcynozą z ciężkim zajęciem narządu wzroku | FHHNC z ciężkim zajęciem narządu wzroku · Hiperkalciuria - obustronna szczelina plamki · Zespół Meiera, Blumberga i Imahorna · Pierwotna hipomagnezemia i nefrokalcynoza z ciężkim zająciem oczu |
| cs | Primární hypomagnesémie s hyperkalciurií a nefrokalcinózou s vážným postižením očí | Syndrom zahrnující hyperkalciurii a bilaterální makulární kolobom · FHHNC s vážným postižením očí · Meierův-Blumbergův-Imahornův syndrom · Meier-Blumberg-Imahornův syndrom |
| uk | Первинна гіпомагніємія з гіперкальціурією та нефрокальцинозом з тяжким ураженням очей | FHHNC з тяжким ураженням очей · Синдром гіперкальціурії та двобічної макулярної колобоми · Синдром Майєра-Блюмберга-Імахорна |
| zh | 家族性原发性低镁症伴高钙尿和肾钙质沉着症伴严重眼部受累 | 高钙尿-双眼黄斑缺损综合征 |
| tr | Hiperkalsiüri ile ailesel primer hipomagnezemi ve ağır oküler tutulumlu nefrokalsinoz | Meier-Blumberg-Imahorn sendromu · Ağır oküler tutulum ile seyreden FHHNC · Hiperkalsiüri-bilateral maküler kolobom sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248190 | E | validated | |
| ICD-10 | E83.4 | NTBT | attributed | validated |
| ICD-11 | 5C64.41 | NTBT | index | validated |
| MONDO | 0009548 | E | validated | |
| MeSH | C565423 | E | validated | |
| UMLS | C1855466 | E | validated | |
| GARD | 3451 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:306516Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLDN19 | Disease-causing germline mutation(s) in | Assessed | HGNC:2040 | ENSG00000164007 | 610036 | 1p34.2 | claudin 19 | 17033971[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 72 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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.
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HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100530 | Abnormality of calcium-phosphate metabolism | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0001116 | Macular coloboma | |
| HP:0000545 | Myopia | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000112 | Nephropathy | |
| HP:0000639 | Nystagmus | |
| Frequent (79-30%) | ||
| HP:0000790 | Hematuria | |
| HP:0000023 | Inguinal hernia | |
| Occasional (29-5%) | ||
| HP:0001537 | Umbilical hernia | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2196
- This record as JSON: /data/d/2196.json