Coats plus syndrome
Synonyms: CRMCC · Cerebroretinal microangiopathy with calcifications and cysts
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coats plus syndrome | CRMCC · Cerebroretinal microangiopathy with calcifications and cysts |
| fr | Syndrome de Coats-plus | CRMCC · Microangiopathie cérébro-rétinienne avec calcifications et kystes |
| de | Coats plus-Syndrom | CRMCC · Zerebroretinale Mikroangiopathie mit Verkalkungen und Zysten |
| es | Síndrome de Coats plus | CRMCC · Microangiopatía cerebrorretiniana con calcificaciones y quistes |
| it | Sindrome di Coats plus | CRMCC · Microangiopatia cerebroretinica con calcificazioni e cisti |
| nl | Coats-plus-syndroom | CRMCC · Cerebroretinale micro-angiopathie met verkalking en cysten |
| pt | Síndrome de Coats-plus | CRMCC · Microangiopatia cerebroretiniana com calcificações e cistos |
| pl | Zespół Coatsa plus | CRMCC · Mikroangiopatia mózgowo-siatkówkowa ze zwapnieniami i torbielami |
| cs | Coatsův syndrom plus | CRMCC · Cerebroretinální mikroangiopatie s kalcifikacemi a cystami |
| uk | Синдром Коатса плюс | Цереброретинальна мікроангіопатія з кальцифікатами та кістами · CRMCC |
| zh | Coats plus综合征 | 脑视网膜微血管病伴钙化和囊肿 |
| tr | Coats artı sendromu | CRMCC · Kalsifikasyon ve kistler ile seyreden serebroretinal mikroanjiyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612199 | E | validated | |
| OMIM | 617341 | BTNT | validated | |
| ICD-10 | H35.0 | NTBT | attributed | validated |
| MONDO | 0012815 | E | validated | |
| MeSH | C567401 | E | validated | |
| UMLS | C2677299 | 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:477754Genetic cerebral small vessel disease
rare genetic diseases; rare neurological diseases - ORPHA:728475Inherited bone marrow failure disorder with immune defect
rare genetic diseases; rare immunological diseases - ORPHA:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders - ORPHA:717348Rare genetic disorder with progressive retinal vasculopathy as a major feature
rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STN1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26200 | ENSG00000107960 | 613128 | 10q24.33 | STN1 subunit of CST complex | 25957586[PMID] |
| CTC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26169 | ENSG00000178971 | 613129 | 17p13.1 | CST telomere replication complex component 1 | 22267198[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/313838
- This record as JSON: /data/d/313838.json