CAMOS syndrome
Synonyms: Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome · SCAR5
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CAMOS syndrome | Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome · SCAR5 |
| fr | Syndrome CAMOS | SCAR5 · Syndrome d'ataxie cérébelleuse-déficience intellectuelle-atrophie optique-anomalies cutanées |
| de | CAMOS-Syndrom | SCAR5 · Zerebelläre Ataxie-Intelligenzminderung-Optikusatrophie-Hautanomalien-Syndrom |
| es | Síndrome CAMOS | SCAR5 · Síndrome de ataxia cerebelosa-discapacidad intelectual-atrofia óptica-anomalías cutáneas |
| it | Sindrome CAMOS | Atassia cerebellare - deficit cognitivo - atrofia ottica - anomalie cutanee · SCAR5 · Sindrome atassia cerebellare-deficit cognitivo-atrofia ottica-anomalie cutanee |
| nl | CAMOS-syndroom | Cerebellaire ataxie - intellectuele achterstand - opticusatrofie - huidafwijkingen-syndroom · SCAR5 |
| pt | Síndrome CAMOS | SCAR5 · Síndrome de ataxia cerebelosa-perturbação do desenvolvimento intelectual-atrofia óptica-alterações cutâneas |
| pl | Zespół CAMOS | Ataksja móżdżkowa - niepełnosprawność intelektualna - zanik nerwu wzrokowego - nieprawidłowości skóry · SCAR5 |
| cs | CAMOS syndrom | Syndrom zahrnující cerebelární ataxii, mentální retardaci, optickou atrofii a kožní abnormality · SCAR5 |
| uk | Синдром CAMOS | Синдром мозочкової атаксії - інтелектуальної недостатності - атрофії зорового нерва - аномалій шкіри · SCAR5 |
| zh | CAMOS综合征 | 小脑共济失调-智力障碍-视神经萎缩-皮肤异常综合征 |
| tr | CAMOS sendromu | SCAR5 · Serebellar ataksi-zihinsel yetersizlik-optik atrofi-deri anormallikleri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606937 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0019374 | E | validated | |
| UMLS | C4511633 | E | validated | |
| GARD | 9977 | 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:98095Autosomal recessive congenital cerebellar ataxia
rare genetic diseases; rare neurological diseases - 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:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZNF592 | Candidate gene tested in | Not yet assessed | HGNC:28986 | ENSG00000166716 | 613624 | 15q25.3 | zinc finger protein 592 | 20531441[PMID]_26123727[PMID] |
| WDR73 | Disease-causing germline mutation(s) in | Assessed | HGNC:25928 | ENSG00000177082 | 616144 | 15q25.2 | WD repeat domain 73 | 26123727[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 11391656[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11391656[PMID] |
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 2016-11-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000951 | Abnormality of the skin | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0001251 | Ataxia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0001270 | Motor delay | |
| HP:0000648 | Optic atrophy | |
| HP:0007153 | Progressive extrapyramidal movement disorder | |
| Frequent (79-30%) | ||
| HP:0012444 | Brain atrophy | |
| HP:0001260 | Dysarthria | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000083 | Renal insufficiency | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 20531441[PMID]_26070982[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83472
- This record as JSON: /data/d/83472.json