Intellectual disability-early-onset cataract-microcephaly syndrome
Synonyms: Baralle-Macken syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual disability, global developmental delay with no speech (some patients may have limited speech), inability or difficulty to walk, microcephaly, and early-onset cataract. Additional clinical features may include hypotonia, spasticity, endocrine/metabolic diseases and immunodeficiency with lymphopenia.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-early-onset cataract-microcephaly syndrome | Baralle-Macken syndrome |
| fr | Syndrome de déficience intellectuelle-cataracte précoce-microcéphalie | Syndrome de Baralle-Macken |
| de | Intelligenzminderung-frühbeginnende Katarakt-Mikrozephalie-Syndrom | Baralle-Macken-Syndrom |
| es | Síndrome de discapacidad intelectual-catarata de inicio precoz-microcefalia | Síndrome de Baralle-Macken |
| it | Sindrome da disabilità intellettiva-cataratta a esordio precoce-microcefalia | Sindrome di Baralle-Macken |
| nl | Intellectuele achterstand - vroeg optredend cataract - microcefalie-syndroom | Syndroom van Baralle-Macken |
| pt | Síndrome de perturbação do desenvolvimento intelectual-catarata de início precoce-microcefalia | Síndrome Baralle-Macken |
| pl | Zespół niepełnosprawności intelektualnej, zaćmy o wczesnym początku oraz małogłowia | = en |
| cs | Syndrom zahrnující mentální retardaci, kataraktu s časným nástupem a mikrocefalii | = en |
| uk | Синдром інтелектуальної недостатності-ранньої катаракти-мікроцефалії | Синдром Баралле-Маккена |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619255 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0859002 | E | validated | |
| UMLS | C5543241 | 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 (4):
- 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 - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COPB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2231 | ENSG00000129083 | 600959 | 11p15.2 | coat protein complex I subunit beta 1 | 33632302[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 33632302[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33632302[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/633035
- This record as JSON: /data/d/633035.json