ORPHA:726782
Intellectual disability-myopathy-white matter abnormality syndrome
Synonyms: ABCC9-related Intellectual disability-myopathy syndrome · AIMS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-myopathy-white matter abnormality syndrome | ABCC9-related Intellectual disability-myopathy syndrome · AIMS |
| fr | Syndrome de déficience intellectuelle-myopathie-annomalie de la substance blanche | Syndrome de déficience intellectuelle-myopathie associé à ABCC9 |
| de | Intelligenzminderung-Myopathie-Anomalie der weißen Gehirnsubstanz-Syndrom | AIMS · Intelligenzminderung-Myopathie-Syndrom, ABCC9-assoziiertes |
| es | Síndrome de discapacidad intelectual-miopatía-anomalía de la sustancia blanca | Síndrome de discapacidad intelectual-miopatía asociado al gen ABCC9 · AIMS |
| it | Sindrome disabilità intellettiva-miopatia-anomalie della sostanza bianca | AIMS · Sindrome disabilità intellettiva-miopatia correlata ad ABCC9 |
| nl | Intellectuele achterstand - myopathie - wittestofafwijking-syndroom | AIMS · ABCC9-gerelateerd intellectuele achterstand - myopathie-syndroom |
| pt | Intellectual disability-myopathy-white matter abnormality syndrome | |
| pl | Intellectual disability-myopathy-white matter abnormality syndrome | = en |
| cs | Intellectual disability-myopathy-white matter abnormality syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619719 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCC9 | Disease-causing germline mutation(s) in | Assessed | HGNC:60 | ENSG00000069431 | 601439 | 12p12.1 | ATP binding cassette subfamily C member 9 | 31575858[PMID]_38217872[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
6
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/726782
- This record as JSON: /data/d/726782.json