ORPHA:620368
EGF-related primary hypomagnesemia with intellectual disability
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare disorder of magnesium transport characterized by hypomagnesemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcemia and obesity are absent.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EGF-related primary hypomagnesemia with intellectual disability | |
| fr | Hypomagnésémie primaire avec déficience intellectuelle associée à EGF | |
| de | EGF-assoziierte primäre Hypomagnesiämie mit Intelligenzminderung | |
| es | Hipomagnesemia primaria con discapacidad intelectual asociada a EGF | |
| it | Ipomagnesemia primitiva correlata a EGF con disabilità intellettiva | |
| nl | EGF-gerelateerde primaire hypomagnesiëmie met intellectuele achterstand | |
| pt | Hipomagnesémia primária EGF-relacionada com perturbação do desenvolvimento intelectual | |
| pl | Pierwotna hipomagnezemia związana z EGF, z niepełnosprawnością intelektualną | |
| cs | EGF asociovaná primární hypomagnezémie s intelektovou nedostatečností | |
| uk | Первинна гіпомагніємія, повязана з EGF, з інтелектуальною недостатністю |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620368 | E | validated | |
| ICD-10 | E83.4 | NTBT | attributed | validated |
| ICD-11 | GB90.4Y | NTBT | attributed | validated |
| MONDO | 0850088 | E | validated | |
| UMLS | C5681825 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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 |
|---|---|---|---|---|---|---|---|---|
| EGF | Disease-causing germline mutation(s) in | Assessed | HGNC:3229 | ENSG00000138798 | 131530 | 4q25 | epidermal growth factor | 17671655[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 33600043[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33600043[PMID]_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
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/620368
- This record as JSON: /data/d/620368.json