MCID: CRB194
MIFTS: 37

Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases

Aliases & Classifications for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

MalaCards integrated aliases for Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

Name: Cerebroretinal Microangiopathy with Calcifications and Cysts 1 57 75 29 6
Cerebroretinal Microangiopathy with Calcifications and Cysts 57 25 59 29 13 6 73
Coats Plus Syndrome 57 25 59 75
Crmcc 57 25 59
Cerebral Small Vessel Diseases 44 73
Crmcc1 57 75
Microangiopathy, Cerebroretinal, with Calcifications and Cysts 40

Characteristics:

Orphanet epidemiological data:

59
coats plus syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
progressive disorder
onset in infancy or early childhood


HPO:

32
cerebroretinal microangiopathy with calcifications and cysts 1:
Onset and clinical course phenotypic variability infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

OMIM : 57 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. (612199)

MalaCards based summary : Cerebroretinal Microangiopathy with Calcifications and Cysts 1, also known as cerebroretinal microangiopathy with calcifications and cysts, is related to htra1-related autosomal dominant cerebral small vessel disease and leukoencephalopathy, brain calcifications, and cysts, and has symptoms including ataxia, hemiplegia and muscle spasticity. An important gene associated with Cerebroretinal Microangiopathy with Calcifications and Cysts 1 is CTC1 (CST Telomere Replication Complex Component 1). Affiliated tissues include bone, brain and skin, and related phenotypes are genu valgum and osteopenia

Genetics Home Reference : 25 Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body.

UniProtKB/Swiss-Prot : 75 Cerebroretinal microangiopathy with calcifications and cysts 1: An autosomal recessive pleiomorphic 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.

Wikipedia : 76 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder, which... more...

Related Diseases for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Graphical network of the top 20 diseases related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1:



Diseases related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Symptoms & Phenotypes for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
osteoporosis
pathologic fractures
lytic lesions
low trabecular bone volume see on bone biopsy
more
Skeletal Spine:
scoliosis

Head And Neck Eyes:
optic atrophy
blindness
retinal telangiectasia
exudative retinopathy
coats disease
more
Skin Nails Hair Skin:
thin skin
pigmentary abnormalities (in some patients)

Skin Nails Hair Hair:
sparse hair
graying hair

Skin Nails Hair Nails:
dysplastic nails

Hematology:
bone marrow failure (in some patients)
thrombocytopenia (less common)
anemia (less common)

Cardiovascular Vascular:
small vessel microangiopathy

Neurologic Central Nervous System:
seizures
ataxia
spasticity
dysarthria
tremor
more
Skeletal Limbs:
bowing of the long bones
short femoral neck
metaphyseal sclerosis
genu valga

Growth Height:
short stature

Growth Other:
postnatal growth retardation
intrauterine growth retardation (iugr)

Abdomen Gastrointestinal:
intestinal bleeding
telangiectatic mucosal blood vessels

Laboratory Abnormalities:
shortened telomeres

Head And Neck Mouth:
oral leukoplakia (in some patients)


Clinical features from OMIM:

612199

Human phenotypes related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

32 (show all 37)
# Description HPO Frequency HPO Source Accession
1 genu valgum 32 HP:0002857
2 osteopenia 32 HP:0000938
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 spasticity 32 HP:0001257
6 dysarthria 32 HP:0001260
7 tremor 32 HP:0001337
8 cerebral calcification 32 HP:0002514
9 scoliosis 32 HP:0002650
10 abnormal pyramidal signs 32 HP:0007256
11 optic atrophy 32 HP:0000648
12 short stature 32 HP:0004322
13 blindness 32 HP:0000618
14 osteoporosis 32 HP:0000939
15 anemia 32 HP:0001903
16 bone marrow hypocellularity 32 occasional (7.5%) HP:0005528
17 thin skin 32 HP:0000963
18 pathologic fracture 32 HP:0002756
19 intrauterine growth retardation 32 HP:0001511
20 postnatal growth retardation 32 HP:0008897
21 dystonia 32 HP:0001332
22 thrombocytopenia 32 occasional (7.5%) HP:0001873
23 abnormality of extrapyramidal motor function 32 HP:0002071
24 mental deterioration 32 HP:0001268
25 nail dysplasia 32 HP:0002164
26 retinal telangiectasia 32 HP:0007763
27 sparse hair 32 HP:0008070
28 hemiplegia 32 HP:0002301
29 intestinal bleeding 32 HP:0002584
30 oral leukoplakia 32 occasional (7.5%) HP:0002745
31 leukodystrophy 32 HP:0002415
32 increased susceptibility to fractures 32 HP:0002659
33 short femoral neck 32 HP:0100864
34 metaphyseal sclerosis 32 HP:0004979
35 leukoencephalopathy 32 HP:0002352
36 morphological abnormality of the pyramidal tract 32 HP:0002062
37 exudative retinopathy 32 HP:0007898

UMLS symptoms related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1:


ataxia, hemiplegia, muscle spasticity, seizures, tremor, abnormal pyramidal signs, abnormality of extrapyramidal motor function

Drugs & Therapeutics for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Search Clinical Trials , NIH Clinical Center for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Cochrane evidence based reviews: cerebral small vessel diseases

Genetic Tests for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Genetic tests related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

# Genetic test Affiliating Genes
1 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 29 CTC1
2 Cerebroretinal Microangiopathy with Calcifications and Cysts 29

Anatomical Context for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

MalaCards organs/tissues related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

41
Bone, Brain, Skin, Liver, Small Intestine, Eye, Retina

Publications for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Articles related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

(show all 12)
# Title Authors Year
1
Cerebroretinal microangiopathy with calcifications and cysts: A case report. ( 28072696 )
2017
2
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic disease. ( 28864049 )
2017
3
Response to the article by Linnankivi et al., entitled 'Cerebroretinal microangiopathy with calcifications and cyst, Revesz syndrome and aplastic anemia'. ( 22705803 )
2013
4
Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia. ( 22705805 )
2013
5
Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations. ( 23220793 )
2013
6
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. ( 22387016 )
2012
7
Progressive cerebroretinal microangiopathy with calcifications and cysts syndrome: an unusual cause of complex partial seizure. ( 22834668 )
2012
8
Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts. ( 21373254 )
2011
9
Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype. ( 21523908 )
2011
10
Cerebroretinal microangiopathy with calcifications and cysts: demonstration of radiological progression. ( 19638852 )
2009
11
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). ( 18076099 )
2008
12
Cerebroretinal microangiopathy with calcifications and cysts. ( 16943371 )
2006

Variations for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

UniProtKB/Swiss-Prot genetic disease variations for Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

75
# Symbol AA change Variation ID SNP ID
1 CTC1 p.Ala227Val VAR_067369 rs199473673
2 CTC1 p.Val259Met VAR_067370 rs387907080
3 CTC1 p.Gly503Arg VAR_067371
4 CTC1 p.Val665Gly VAR_067372 rs199473676
5 CTC1 p.Arg840Trp VAR_067373 rs373905859
6 CTC1 p.Val871Met VAR_067374 rs369255297
7 CTC1 p.Arg975Gly VAR_067375 rs199473678
8 CTC1 p.Arg987Trp VAR_067377 rs202138550
9 CTC1 p.Leu1142His VAR_067378 rs199473681

ClinVar genetic disease variations for Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTC1 NM_025099.5(CTC1): c.724_727delAAAG (p.Lys242Leufs) deletion Pathogenic rs199473674 GRCh37 Chromosome 17, 8140758: 8140761
2 CTC1 NM_025099.5(CTC1): c.724_727delAAAG (p.Lys242Leufs) deletion Pathogenic rs199473674 GRCh38 Chromosome 17, 8237440: 8237443
3 CTC1 NM_025099.5(CTC1): c.2959C> T (p.Arg987Trp) single nucleotide variant Pathogenic rs202138550 GRCh37 Chromosome 17, 8133261: 8133261
4 CTC1 NM_025099.5(CTC1): c.2959C> T (p.Arg987Trp) single nucleotide variant Pathogenic rs202138550 GRCh38 Chromosome 17, 8229943: 8229943
5 CTC1 NM_025099.5(CTC1): c.2611G> A (p.Val871Met) single nucleotide variant Pathogenic rs369255297 GRCh37 Chromosome 17, 8134652: 8134652
6 CTC1 NM_025099.5(CTC1): c.2611G> A (p.Val871Met) single nucleotide variant Pathogenic rs369255297 GRCh38 Chromosome 17, 8231334: 8231334
7 CTC1 NM_025099.5(CTC1): c.775G> A (p.Val259Met) single nucleotide variant Pathogenic rs387907080 GRCh37 Chromosome 17, 8140710: 8140710
8 CTC1 NM_025099.5(CTC1): c.775G> A (p.Val259Met) single nucleotide variant Pathogenic rs387907080 GRCh38 Chromosome 17, 8237392: 8237392
9 CTC1 NM_025099.5(CTC1): c.2518C> T (p.Arg840Trp) single nucleotide variant Pathogenic rs373905859 GRCh37 Chromosome 17, 8134745: 8134745
10 CTC1 NM_025099.5(CTC1): c.2518C> T (p.Arg840Trp) single nucleotide variant Pathogenic rs373905859 GRCh38 Chromosome 17, 8231427: 8231427
11 CTC1 NM_025099.5(CTC1): c.2831delC (p.Pro944Leufs) deletion Pathogenic rs199473677 GRCh37 Chromosome 17, 8133714: 8133714
12 CTC1 NM_025099.5(CTC1): c.2831delC (p.Pro944Leufs) deletion Pathogenic rs199473677 GRCh38 Chromosome 17, 8230396: 8230396
13 CTC1 NM_025099.5(CTC1): c.3425T> A (p.Leu1142His) single nucleotide variant Pathogenic rs201455840 GRCh37 Chromosome 17, 8131910: 8131910
14 CTC1 NM_025099.5(CTC1): c.3425T> A (p.Leu1142His) single nucleotide variant Pathogenic rs201455840 GRCh38 Chromosome 17, 8228592: 8228592
15 CTC1 NM_025099.5(CTC1): c.1994T> G (p.Val665Gly) single nucleotide variant Pathogenic rs199473676 GRCh37 Chromosome 17, 8135745: 8135745
16 CTC1 NM_025099.5(CTC1): c.1994T> G (p.Val665Gly) single nucleotide variant Pathogenic rs199473676 GRCh38 Chromosome 17, 8232427: 8232427
17 CTC1 NM_025099.5(CTC1): c.3583C> T (p.Arg1195Ter) single nucleotide variant Pathogenic rs199473682 GRCh37 Chromosome 17, 8131569: 8131569
18 CTC1 NM_025099.5(CTC1): c.3583C> T (p.Arg1195Ter) single nucleotide variant Pathogenic rs199473682 GRCh38 Chromosome 17, 8228251: 8228251
19 CTC1 NM_025099.5(CTC1): c.680C> T (p.Ala227Val) single nucleotide variant Pathogenic rs199473673 GRCh37 Chromosome 17, 8140805: 8140805
20 CTC1 NM_025099.5(CTC1): c.680C> T (p.Ala227Val) single nucleotide variant Pathogenic rs199473673 GRCh38 Chromosome 17, 8237487: 8237487
21 CTC1 NM_025099.5(CTC1): c.1058delC (p.Ser353Leufs) deletion Pathogenic rs199473675 GRCh37 Chromosome 17, 8139395: 8139395
22 CTC1 NM_025099.5(CTC1): c.1058delC (p.Ser353Leufs) deletion Pathogenic rs199473675 GRCh38 Chromosome 17, 8236077: 8236077
23 CTC1 NM_025099.5(CTC1): c.2954_2956delGTT (p.Cys985del) deletion Pathogenic/Likely pathogenic rs199473679 GRCh37 Chromosome 17, 8133264: 8133266
24 CTC1 NM_025099.5(CTC1): c.2954_2956delGTT (p.Cys985del) deletion Pathogenic/Likely pathogenic rs199473679 GRCh38 Chromosome 17, 8229946: 8229948
25 CTC1 NM_025099.5(CTC1): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic rs397514660 GRCh37 Chromosome 17, 8139594: 8139594
26 CTC1 NM_025099.5(CTC1): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic rs397514660 GRCh38 Chromosome 17, 8236276: 8236276
27 CTC1 NM_025099.5(CTC1): c.1213delG (p.Asp405Metfs) deletion Pathogenic GRCh37 Chromosome 17, 8138597: 8138597
28 CTC1 NM_025099.5(CTC1): c.1213delG (p.Asp405Metfs) deletion Pathogenic GRCh38 Chromosome 17, 8235279: 8235279

Expression for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Search GEO for disease gene expression data for Cerebroretinal Microangiopathy with Calcifications and Cysts 1.

Pathways for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

GO Terms for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

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