Hypomyelination-congenital cataract syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by congenital or early onset cataracts (usually bilateral), developmental delay, progressive neurologic symptoms (including ataxia, spasticity and sometimes seizures) and mild-to-moderate cognitive impairment. Other major clinical features include truncal hypotonia, dysarthia, cerebellar signs (e.g: truncal titubation and intention tremor) and peripheral neuropathy (e.g: progressive weakness of the muscles in the lower limbs). Hypomyelination associated with periventricular white matter abnormalities is observed. Some patients may have mild lens opacity and cataracts could be absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypomyelination-congenital cataract syndrome | |
| fr | Syndrome d'hypomyélinisation-cataracte congénitale | |
| de | Hypomyelinisierung-kongenitale Katarakt-Syndrom | |
| es | Síndrome de hipomielinización-catarata congénita | |
| it | Ipomielinizzazione - cataratta congenita | |
| nl | Hypomyelinisatie - congenitaal cataract-syndroom | |
| pt | Síndrome de hipomielinização-catarata congénita | |
| pl | Hipomielinacja - zaćma wrodzona | |
| cs | Syndrom zahrnující hypomyelinizaci a vrozenou kataraktu | |
| uk | Синдром гіпомієлінізації - вродженої катаракти | |
| zh | 髓鞘形成不足-先天性白内障综合征 | |
| tr | Hipomiyelinizasyon-doğumsal katarakt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610532 | E | validated | |
| ICD-10 | G37.8 | NTBT | attributed | validated |
| MONDO | 0012514 | E | validated | |
| MeSH | C567166 | E | validated | |
| UMLS | C1864663 | E | validated | |
| GARD | 11980 | 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:68356Leukodystrophy
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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HYCC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:24587 | ENSG00000122591 | 610531 | 7p15.3 | hyccin PI4KA lipid kinase complex subunit 1 | 20301737[PMID]_16951682[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 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.
HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0006808 | Cerebral hypomyelination | |
| HP:0000519 | Developmental cataract | |
| HP:0001263 | Global developmental delay | |
| HP:0002342 | Intellectual disability, moderate | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 16951682[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85163
- This record as JSON: /data/d/85163.json