Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare renal tubular disease characterized by hypomagnesemia due to renal magnesium wasting, recurrent generalized seizures, mild to moderate intellectual disability, speech delay and obesity due to <i>CNNM2</i> mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome | |
| fr | Syndrome d'hypomagnésémie primaire-crises généralisées-déficience intellectuelle-obésité | |
| de | Primäre Hypomagnesiämie-generalisierte Krampfanfälle-Intelligenzminderung-Adipositas-Syndrom | |
| es | Síndrome de hipomagnesemia primaria-crisis generalizadas-discapacidad intelectual-obesidad | |
| it | Sindrome da ipomagnesemia primitiva, crisi generalizzate, disabilità intellettiva e obesità | |
| nl | Primaire hypomagnesiëmie - gegeneraliseerde insulten - intellectuele achterstand - obesitas-syndroom | |
| pt | Síndrome de hipomagnesémia primária-convulsões generalizadas-perturbação do desenvolvimento intelectual-obesidade | |
| pl | Zespół pierwotnej hipomagnezemii-uogólnionych drgawek-niepełnosprawności intelektualnej-otyłości | |
| cs | Syndrom zahrnující primární hypomagnezémii, generalizované záchvaty, intelektovou nedostatečnost a obezitu | |
| uk | Синдром первинної гіпомагніємії-генералізованих судом-інтелектуальної недостатності- ожиріння |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616418 | E | validated | |
| ICD-10 | E83.4 | NTBT | attributed | validated |
| ICD-11 | GB90.4Y | NTBT | attributed | validated |
| MONDO | 0850087 | E | validated | |
| UMLS | C5681826 | 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 (6):
- ORPHA:309848Disorder of magnesium transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183592Genetic renal tubular disease
rare genetic 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 - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CNNM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:103 | ENSG00000148842 | 607803 | 10q24.32 | cyclin and CBS domain divalent metal cation transport mediator 2 | 33600043[PMID] |
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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/620363
- This record as JSON: /data/d/620363.json