Primary hypomagnesemia with secondary hypocalcemia
Synonyms: Hypomagnesemia caused by selective magnesium malabsorption · Hypomagnesemia intestinal type 1 · Intestinal hypomagnesemia with secondary hypocalcemia · PHSH · HOMG1 · HSH
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hypomagnesemia with secondary hypocalcemia | Hypomagnesemia caused by selective magnesium malabsorption · Hypomagnesemia intestinal type 1 · Intestinal hypomagnesemia with secondary hypocalcemia · PHSH · HOMG1 · HSH |
| fr | Hypomagnésémie primaire avec hypocalcémie secondaire | HOMG1 · HSH · Hypomagnésémie intestinale avec hypocalcémie secondaire · Hypomagnésémie intestinale type 1 · Hypomagnésémie par malabsorption sélective de magnésium · PHSH |
| de | Primäre Hypomagnesiämie mit sekundärer Hypokalzämie | HOMG1 · HSH · Hypomagnesiämie durch selektive Magnesiumaufnahme · Hypomagnesiämie, intestinale, Typ 1 · Hypomagnesiämie, intestinale, mit sekundärer Hypokalzämie · PHSH |
| es | Hipomagnesemia primaria con hipocalcemia secundaria | HOMG1 · HSH · Hipomagnesemia causada por malabsorción selectiva de magnesio · Hipomagnesemia intestinal con hipocalcemia secundaria · Hipomagnesemia intestinal tipo 1 · PHSH |
| it | Ipomagnesemia primitiva con ipocalcemia secondaria | HOMG1 · HSH · Ipomagnesemia causata da malassorbimento selettivo del magnesio · Ipomagnesemia intestinale con ipocalcemia secondaria · Ipomagnesemia intestinale, tipo 1 · PHSH |
| nl | Primaire hypomagnesiëmie met secundaire hypocalciëmie | HOMG1 · HSH · Hypomagnesiëmie veroorzaakt door selectieve malabsorptie van magnesium · Intestinale hypomagnesiëmie met secundaire hypocalciëmie · Intestinale hypomagnesiëmie type 1 · PHSH |
| pt | Hipomagnesemia por má absorção seletiva de magnésio | Hipomagnesemia intestinal primária com hipocalcémia secundária |
| pl | Hipomagnezemia pierwotna z wtórną hipokalcemią | Hipomagnezemia jelitowa typu 1 · Hipomagnezemia jelitowa z wtórną hipokalcemią · Hipomagnezemia spowodowana selektywnym złym wchłanianiem magnezu · HOMG1 · HSH · PHSH |
| cs | Primární hypomagnezémie se sekundární hypokalcémií | HOMG1 · HSH · Intestinální hypomagnezémie, typ 1 · Intestinální hypomagnezémie se sekundární hypokalcémií · PHSH · Hypomagnezémie způsobená selektivní malabsorpcí hořčíku |
| uk | Первинна гіпомагніємія з вторинною гіпокальціємією | HOMG1 · HSH · Гіпомагніємія, спричинена селективною мальабсорбцією магнію · Гіпомагніємія кишкового типу 1 · Кишкова гіпомагніємія з вторинною гіпокальціємією · PHSH |
| zh | 原发性低镁血症继发性低钙血症 | 选择性肠吸收不良性低镁血症 |
| tr | Sekonder hipokalsemi ile seyreden primer hipomagnezemi | HSH · PHSH · HOMG1 · Hipomagnezemi intestinal tip 1 · Sekonder hipokalsemili bağırsak hipomagnezemisi · Seçici magnezyum malabsorpsiyonunun neden olduğu hipomagnezemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602014 | E | validated | |
| ICD-10 | E83.4 | NTBT | attributed | validated |
| ICD-11 | 5C64.41 | NTBT | index | validated |
| MONDO | 0011176 | E | validated | |
| MeSH | C566593 | E | validated | |
| UMLS | C1865974 | E | validated | |
| GARD | 13072 | 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 (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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPM6 | Disease-causing germline mutation(s) in | Assessed | HGNC:17995 | ENSG00000119121 | 607009 | 9q21.13 | transient receptor potential cation channel subfamily M member 6 | 12032570[PMID]_12032568[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 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/30924
- This record as JSON: /data/d/30924.json