ORPHA:662184
Congenital muscular dystrophy-cataract-intellectual disability syndrome
Synonyms: INPP5K-related syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital muscular dystrophy-cataract-intellectual disability syndrome | INPP5K-related syndrome |
| fr | Syndrome de dystrophie musculaire congénitale-cataracte-déficience intellectuelle | Dystrophie musculaire congénitale lié à INPP5K |
| de | Kongenitale Muskeldystrophie-Katarakt-Intelligenzminderung-Syndrom | INPP5K-assoziiertes Syndrom |
| es | Síndrome de distrofia muscular-cataratas-discapacidad intelectual congénito | Síndrome asociado al gen INPP5K |
| it | Sindrome distrofia muscolare congenita-cataratta-disabilità intellettiva | Sindrome correlata a INPP5K |
| nl | Congenitale spierdystrofie - cataract - intellectuele achterstand-syndroom | INPP5K-gerelateerd syndroom |
| pt | Síndrome de distrofia muscular congénita-catarata-perturbação do desenvolvimento intelectual | Síndrome INPP5K-relacionada |
| pl | Zespół wrodzonej dystrofii mięśniowej, zaćmy i niepełnosprawności intelektualnej | = en |
| cs | Syndrom zahrnující vrozenou svalovou dystrofii, kataraktu a intelektovou nedostatečnost | = en |
| uk | Синдром вродженої мязової дистрофії-катаракти-інтелектуальної недостатності | Синдром, повязаний з INPP5K |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617404 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0024607 | E | validated | |
| MONDO | 24607 | E | validated | |
| UMLS | C5925130 | 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 (4):
- ORPHA:97242Congenital muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| INPP5K | Disease-causing germline mutation(s) in | Assessed | HGNC:33882 | ENSG00000132376 | 607875 | 17p13.3 | inositol polyphosphate-5-phosphatase K | 28190459[PMID]_28190456[PMID]_33792664[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 28190456[PMID]_28190459[PMID]_33792664[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28190456[PMID]_28190459[PMID]_33792664[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/662184
- This record as JSON: /data/d/662184.json