Ocular motor apraxia, Cogan type
Synonyms: Oculomotor apraxia, Cogan type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the <i>NPHP1</i> gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ocular motor apraxia, Cogan type | Oculomotor apraxia, Cogan type |
| fr | Apraxie oculomotrice type Cogan | |
| de | Apraxie, okulomotorische, Typ Cogan | |
| es | Apraxia ocular tipo Cogan | |
| it | Aprassia oculomotoria, tipo Cogan | |
| nl | Oculomotorische apraxie, Cogan-type | |
| pt | Apraxia ocular motora, tipo Cogan | |
| pl | Apraksja gałkooruchowa typu Cogana | = en |
| cs | Okulomotorická apraxie, Coganův typ | = en |
| uk | Окорухова апраксія, тип Когана | Окорухова апраксія, тип Когана |
| zh | 眼运动失用症Cogan型 | 眼运动失用症，Cogan型 |
| tr | Oküler motor apraksi, Cogan tipi | Okülomotor apraksi, Cogan tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 257550 | E | validated | |
| ICD-10 | H51.8 | NTBT | index | validated |
| ICD-11 | 9C82.4 | NTBT | index | validated |
| MONDO | 0009764 | E | validated | |
| MeSH | C537423 | E | validated | |
| UMLS | C0543874 | E | validated | |
| GARD | 16 | 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 (1):
- ORPHA:98688Oculomotor apraxia
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 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
15 annotations · validated 2025-01-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0000657 | Oculomotor apraxia | |
| Frequent (79-30%) | ||
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001151 | Impaired horizontal smooth pursuit | |
| HP:0006961 | Jerky head movements | |
| HP:0002419 | Molar tooth sign on MRI | |
| HP:0001270 | Motor delay | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0002312 | Clumsiness | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000639 | Nystagmus | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 37131188[PMID]_27473762[PMID]_30782493[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1125
- This record as JSON: /data/d/1125.json