Isolated autosomal dominant hypomagnesemia, Glaudemans type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated autosomal dominant hypomagnesemia, Glaudemans type | |
| fr | Hypomagnésémie isolée autosomique dominante type Glaudemans | |
| de | Hypomagnesiämie, isolierte, autosomal-dominante, Typ Glaudemans | |
| es | Hipomagnesemia aislada autosómica dominante, tipo Glaudemans | |
| it | Ipomagnesemia isolata autosomica dominante, tipo Glaudemans | |
| nl | Geïsoleerde autosomaal dominante hypomagnesiëmie, Glaudemans-type | |
| pt | Hipomagnesemia isolada autossómica dominante, tipo Glaudemans | |
| pl | Izolowana autosomalnie dominująca hipomagnezemia, typ Glaudemansa | |
| cs | Izolovaná autozomálně dominantní hypomagnesemie, Glaudemansův typ | |
| uk | Ізольована аутосомно-домінантна гіпомагніємія, тип Глаудеманса | |
| zh | 孤立性常染色体显性低镁血症Glaudemans型 | |
| tr | İzole otozomal dominant hipomagnezemi, Glaudemans tipi |
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 | index | validated |
| MONDO | 0016048 | E | validated | |
| UMLS | C4305155 | 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 |
|---|---|---|---|---|---|---|---|---|
| KCNA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6218 | ENSG00000111262 | 176260 | 12p13.32 | potassium voltage-gated channel subfamily A member 1 | 19307729[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 19307729[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/199326
- This record as JSON: /data/d/199326.json