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Coats plus syndrome

MedGen UID:
383079
Concept ID:
C2677299
Disease or Syndrome
Synonym: Cerebroretinal microangiopathy with calcifications and cysts
SNOMED CT: Coats plus syndrome (711482008); Cerebroretinal microangiopathy with calcifications and cysts (711482008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: CTC1, STN1, POT1
 
Monarch Initiative: MONDO:0012815
OMIM®: 612199
OMIM® Phenotypic series: PS612199
Orphanet: ORPHA313838

Definition

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia (summary by Anderson et al., 2012 and Polvi et al., 2012). Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome (614561), has similar central nervous system features as CRMCC in the absence of extraneurologic or systemic manifestations. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012). Some features of CRMCC resemble those observed in dyskeratosis congenita (see, e.g., 127550), which is a clinically and genetically heterogeneous telomere-related genetic disorder. Genetic Heterogeneity of Cerebroretinal Microangiopathy with Calcifications and Cysts See also CRMCC2 (617341), caused by mutation in the STN1 gene (613128) on chromosome 10q24; and CRMCC3 (620368), caused by mutation in the POT1 gene (606478) on chromosome 7q31. [from OMIM]

Recent clinical studies

Etiology

Chiang Y, Wang HJ, Chen CY
J Clin Neurosci 2019 Nov;69:276-279. Epub 2019 Aug 22 doi: 10.1016/j.jocn.2019.08.006. PMID: 31447356

Diagnosis

Oudrhiri N, M'kacher R, Chaker D, Colicchio B, Borie C, Jeandidier E, Dieterlen A, Griscelli F, Bennaceur-Griscelli A, Turhan AG
Genes (Basel) 2022 Aug 5;13(8) doi: 10.3390/genes13081395. PMID: 36011306Free PMC Article
López-Cañizares A, Fernandez MP, Al-Khersan H, Carletti P, Arroyo MS, Fernandez-Ruiz MC, Berrocal AM
Ophthalmic Genet 2022 Aug;43(4):543-549. Epub 2022 Apr 13 doi: 10.1080/13816810.2022.2051193. PMID: 35416114
Hoşnut FÖ, Şahin G, Akçaboy M
Turk J Pediatr 2022;64(1):166-170. doi: 10.24953/turkjped.2020.3315. PMID: 35286046
Collin A, Lecler A
JAMA Neurol 2019 Apr 1;76(4):501. doi: 10.1001/jamaneurol.2018.4610. PMID: 30688973
Savage SA
Prog Mol Biol Transl Sci 2014;125:41-66. doi: 10.1016/B978-0-12-397898-1.00002-5. PMID: 24993697

Therapy

Hoşnut FÖ, Şahin G, Akçaboy M
Turk J Pediatr 2022;64(1):166-170. doi: 10.24953/turkjped.2020.3315. PMID: 35286046
Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R
J Exp Med 2016 Jul 25;213(8):1429-40. Epub 2016 Jul 18 doi: 10.1084/jem.20151618. PMID: 27432940Free PMC Article

Prognosis

Han E, Patel NA, Yannuzzi NA, Laura DM, Fan KC, Negron CI, Prakhunhungsit S, Thorson WL, Berrocal AM
Ophthalmic Genet 2020 Aug;41(4):363-367. Epub 2020 Jun 16 doi: 10.1080/13816810.2020.1772315. PMID: 32543263
Chiang Y, Wang HJ, Chen CY
J Clin Neurosci 2019 Nov;69:276-279. Epub 2019 Aug 22 doi: 10.1016/j.jocn.2019.08.006. PMID: 31447356

Clinical prediction guides

Cai SW, Zinder JC, Svetlov V, Bush MW, Nudler E, Walz T, de Lange T
Nat Struct Mol Biol 2022 Aug;29(8):813-819. Epub 2022 May 16 doi: 10.1038/s41594-022-00766-y. PMID: 35578024Free PMC Article
Bozkurt S, Usta AM, Urganci N, Kalay NG, Kose G, Ozmen E
BMC Pediatr 2022 Mar 8;22(1):119. doi: 10.1186/s12887-022-03140-5. PMID: 35260125Free PMC Article
Acharya T, Firth HV, Dugar S, Grammatikopoulos T, Seabra L, Walters A, Crow YJ, Parker APJ
Mol Genet Genomic Med 2021 Dec;9(12):e1708. Epub 2021 Jun 10 doi: 10.1002/mgg3.1708. PMID: 34110109Free PMC Article
Choudhury A, Mohammad T, Samarth N, Hussain A, Rehman MT, Islam A, Alajmi MF, Singh S, Hassan MI
Sci Rep 2021 May 13;11(1):10202. doi: 10.1038/s41598-021-89450-7. PMID: 33986331Free PMC Article
Netravathi M, Kumari R, Kapoor S, Dakle P, Dwivedi MK, Roy SD, Pandey P, Saini J, Ramakrishna A, Navalli D, Satishchandra P, Pal PK, Kumar A, Faruq M
BMC Med Genet 2015 Feb 10;16:5. doi: 10.1186/s12881-015-0151-8. PMID: 25928698Free PMC Article

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