DISEASE: Cerebroretinal microangiopathy with calcifications and cysts
Entry
H02251 Disease
Name
Cerebroretinal microangiopathy with calcifications and cysts; Coats plus syndrome
Description
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is a rare and highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. The most characteristic features are retinal telangiectasia and exudates, and a distinctive pattern of intracranial calcification with an associated leukodystrophy and brain cysts. It has been reported that mutations CTC1 and STN1 cause CRMCC. Both of them are members of CST complex, that plays multiple roles in telomere C-strand synthesis.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball posterior segment
Disorders of the retina
9B78 Certain specified retinal disorders
H02251 Cerebroretinal microangiopathy with calcifications and cysts
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06510 Telomere length regulation
H02251 Cerebroretinal microangiopathy with calcifications and cysts
Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ
Title
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
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
Title
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
