ORPHA:34528
Autosomal dominant primary hypomagnesemia with hypocalciuria
Synonyms: HOMG2 · Isolated autosomal dominant hypomagnesemia · Isolated renal magnesium wasting · Renal hypomagnesemia type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant primary hypomagnesemia with hypocalciuria | HOMG2 · Isolated autosomal dominant hypomagnesemia · Isolated renal magnesium wasting · Renal hypomagnesemia type 2 |
| fr | Hypomagnésémie primaire autosomique dominante avec hypocalciurie | Hypomagnésémie isolée autosomique dominante · Hypomagnésémie rénale type 2 · HOMG2 |
| de | Autosomal-dominante primäre Hypomagnesiämie mit Hypokalziurie | HOMG2 · Hypomagnesiämie, isolierte, autosomal-dominante Form · Hypomagnesiämie, renale, Typ 2 · Isolierter Magnesiumverlust der Nieren |
| es | Hipomagnesemia primaria autosómica dominante con hipocalciuria | HOMG2 · Hipomagnesemia aislada autosómica dominante · Hipomagnesemia renal tipo 2 · Pérdida renal de magnesio aislada |
| it | Ipomagnesemia primitiva autosomica dominante con ipocalciuria | HOMG2 · Ipomagnesemia autosomica dominante isolata · Ipomagnesemia renale, tipo 2 · Perdita renale di magnesio isolata |
| nl | Autosomaal dominante primaire hypomagnesiëmie met hypocalciurie | Geïsoleerd renaal magnesiumverlies · Geïsoleerde autosomaal dominante hypomagnesiëmie · HOMG2 · Renale hypomagnesiëmie type 2 |
| pt | Hipomagnesemia primária autossómica dominante com hipocalciúria | |
| pl | Autosomalna dominująca pierwotna hipomagnezemia z hipokalcurią | Autosomalna dominująca hipomagnezemia izolowana · Hipomagnezemia nerkowa typu 2 · HOMG2 · Izolowana utrata magnezu w nerkach |
| cs | Autozomálně dominantní primární hypomagnesémie s hypokalciurií | HOMG2 · Renální hypomagnesémie, typ 2 · Izolovaná autozomálně dominantní hypomagnesémie · Izolované ztráty hořčíku ledvinami |
| uk | Аутосомно-домінантна первинна гіпомагніємія з гіпокальціурією | HOMG2 · Ізольована аутосомно-домінантна гіпомагніємія · Ізольована ниркова втрата магнію · Ниркова гіпомагніємія 2 типу |
| zh | 常染色体显性遗传性原发性低镁血症伴低钙尿症 | 常染色体显性遗传低镁血症 |
| tr | Hipokalsiüri ile seyreden otozomal dominant primer hipomagnezemi | HOMG2 · Renal hipomagnezemi tip 2 · İzole böbrek magnezyum kaybı · İzole otozomal dominant hipomagnezemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 154020 | E | validated | |
| ICD-10 | E83.4 | NTBT | attributed | validated |
| ICD-11 | 5C64.41 | NTBT | index | validated |
| MONDO | 0007937 | E | validated | |
| MeSH | C537152 | E | validated | |
| UMLS | C1835171 | E | validated | |
| GARD | 3350 | 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 (3):
- ORPHA:309848Disorder of magnesium transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FXYD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4026 | ENSG00000137731 | 601814 | 11q23.3 | FXYD domain containing ion transport regulator 2 | 17980699[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 25765846[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25765846[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/34528
- This record as JSON: /data/d/34528.json