ORPHA:564178
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hypomagnesemia-refractory seizures-intellectual disability syndrome | |
| fr | Syndrome d'hypomagnésémie primaire-épilepsie réfractaire-déficience intellectuelle | |
| de | Syndrom der primären Hypomagnesiämie mit refraktären Krämpfen und Intelligenzminderung | |
| es | Síndrome de hipomagnesemia primaria-epilepsia refractaria-discapacidad intelectual | |
| it | Sindrome da ipomagnesemia primitiva, crisi epilettiche refrattarie e disabilità intellettiva | |
| nl | Primaire hypomagnesiëmie - refractaire insulten - intellectuele achterstand-syndroom | |
| pt | Síndrome de hipomagnesemia primária-convulsões refratárias-perturbação do desenvolvimento intelectual | |
| pl | Pierwotna hipomagnezemia z napadami opornymi na leczenie i niepełnosprawnością intelektualną | |
| cs | Primární hypomagnezémie s refrakterními záchvaty a mentální retardací | |
| uk | Синдром первинної гіпомагніємії-рефрактерних судом-інтелектуальної недостатності | |
| zh | 原发性低镁血症伴难治性癫痫发作和智力障碍 | |
| tr | Refrakter nöbetler ve zihinsel yetersizlik ile seyreden primer hipomagnezemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618314 | E | validated | |
| ICD-10 | E83.4 | NTBT | attributed | validated |
| ICD-11 | GB90.4Y | NTBT | attributed | validated |
| UMLS | C5681271 | 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 (6):
- ORPHA:309848Disorder of magnesium transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP1A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:799 | ENSG00000163399 | 182310 | 1p13.1 | ATPase Na+/K+ transporting subunit alpha 1 | 30388404[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30388404[PMID] |
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 30388404[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
12 annotations · validated 2020-08-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0006872 | Cerebral hypoplasia | |
| HP:0002194 | Delayed gross motor development | |
| HP:0012726 | Episodic hypokalemia | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0002917 | Hypomagnesemia | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0002465 | Poor speech | |
| HP:0005567 | Renal magnesium wasting | |
| HP:0000128 | Renal potassium wasting | |
| HP:0002133 | Status epilepticus | |
Annotation source: 30388404[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/564178
- This record as JSON: /data/d/564178.json