MCID: CRB149
MIFTS: 40

Cerebroretinal Microangiopathy with Calcifications and Cysts

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

Aliases & Classifications for Cerebroretinal Microangiopathy with Calcifications and Cysts

MalaCards integrated aliases for Cerebroretinal Microangiopathy with Calcifications and Cysts:

Name: Cerebroretinal Microangiopathy with Calcifications and Cysts 54 24 25 56 13 69
Coats Plus Syndrome 24 25 56 71
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 71 29
Cerebral Small Vessel Diseases 42 69
Crmcc 25 56
Crmcc1 71

Characteristics:

Orphanet epidemiological data:

56
coats plus syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Cerebroretinal Microangiopathy with Calcifications and Cysts

OMIM : 54
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, also known as coats plus syndrome, is related to cerebroretinal microangiopathy with calcifications and cysts 2 and htra1-related autosomal dominant cerebral small vessel disease, and has symptoms including short stature, scoliosis and optic atrophy. An important gene associated with Cerebroretinal Microangiopathy with Calcifications and Cysts is CTC1 (CST Telomere Replication Complex Component 1). Affiliated tissues include bone, brain and skin.

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 : 71 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 : 72 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder, which... more...

Related Diseases for Cerebroretinal Microangiopathy with Calcifications and Cysts

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



Diseases related to Cerebroretinal Microangiopathy with Calcifications and Cysts

Symptoms & Phenotypes for Cerebroretinal Microangiopathy with Calcifications and Cysts

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
optic atrophy
blindness
retinal telangiectasia
exudative retinopathy
coats disease
more
Skin Nails & Hair- Hair:
sparse hair
graying hair

Skin Nails & Hair- Skin:
thin skin
pigmentary abnormalities (in some patients)

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

Skin Nails & Hair- Nails:
dysplastic nails

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

Abdomen- Gastroin testinal:
intestinal bleeding
telangiectatic mucosal blood vessels

Skeletal- Spine:
scoliosis

Neurologic- Central Nervous System:
dystonia
dysarthria
ataxia
tremor
spasticity
more
Skeletal:
osteoporosis
osteopenia
pathologic fractures
lytic lesions
low trabecular bone volume see on bone biopsy
more
Growth- Other:
intrauterine growth retardation (iugr)
postnatal growth retardation

Skeletal- Limbs:
genu valga
short femoral neck
bowing of the long bones
metaphyseal sclerosis

Laboratory- Abnormalities:
shortened telomeres

Cardiovascular- Vascular:
small vessel microangiopathy


Clinical features from OMIM:

612199

Human phenotypes related to Cerebroretinal Microangiopathy with Calcifications and Cysts:

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

UMLS symptoms related to Cerebroretinal Microangiopathy with Calcifications and Cysts:


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

Drugs & Therapeutics for Cerebroretinal Microangiopathy with Calcifications and Cysts

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

Cochrane evidence based reviews: cerebral small vessel diseases

Genetic Tests for Cerebroretinal Microangiopathy with Calcifications and Cysts

Genetic tests related to Cerebroretinal Microangiopathy with Calcifications and Cysts:

id Genetic test Affiliating Genes
1 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 29
2 Cerebroretinal Microangiopathy with Calcifications and Cysts 24 CTC1

Anatomical Context for Cerebroretinal Microangiopathy with Calcifications and Cysts

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

39
Bone, Brain, Skin, Liver, Small Intestine, Eye, Retina

Publications for Cerebroretinal Microangiopathy with Calcifications and Cysts

Articles related to Cerebroretinal Microangiopathy with Calcifications and Cysts:

(show all 12)
id 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
Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations. ( 23220793 )
2013
4
Response to the article by Linnankivi et al., entitled 'Cerebroretinal microangiopathy with calcifications and cyst, Revesz syndrome and aplastic anemia'. ( 22705803 )
2013
5
Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia. ( 22705805 )
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

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

71
id 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:

6 (show all 14)
id 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.2959C> T (p.Arg987Trp) single nucleotide variant Pathogenic rs202138550 GRCh37 Chromosome 17, 8133261: 8133261
3 CTC1 NM_025099.5(CTC1): c.2611G> A (p.Val871Met) single nucleotide variant Pathogenic rs369255297 GRCh37 Chromosome 17, 8134652: 8134652
4 CTC1 NM_025099.5(CTC1): c.775G> A (p.Val259Met) single nucleotide variant Pathogenic rs387907080 GRCh37 Chromosome 17, 8140710: 8140710
5 CTC1 NM_025099.5(CTC1): c.2518C> T (p.Arg840Trp) single nucleotide variant Pathogenic rs373905859 GRCh37 Chromosome 17, 8134745: 8134745
6 CTC1 NM_025099.5(CTC1): c.2831delC (p.Pro944Leufs) deletion Pathogenic rs199473677 GRCh37 Chromosome 17, 8133714: 8133714
7 CTC1 NM_025099.5(CTC1): c.3425T> A (p.Leu1142His) single nucleotide variant Pathogenic rs201455840 GRCh37 Chromosome 17, 8131910: 8131910
8 CTC1 NM_025099.5(CTC1): c.1994T> G (p.Val665Gly) single nucleotide variant Pathogenic rs199473676 GRCh37 Chromosome 17, 8135745: 8135745
9 CTC1 NM_025099.5(CTC1): c.3583C> T (p.Arg1195Ter) single nucleotide variant Pathogenic rs199473682 GRCh37 Chromosome 17, 8131569: 8131569
10 CTC1 NM_025099.5(CTC1): c.680C> T (p.Ala227Val) single nucleotide variant Pathogenic rs199473673 GRCh37 Chromosome 17, 8140805: 8140805
11 CTC1 NM_025099.5(CTC1): c.1058delC (p.Ser353Leufs) deletion Pathogenic rs199473675 GRCh37 Chromosome 17, 8139395: 8139395
12 CTC1 NM_025099.5(CTC1): c.2954_2956delGTT (p.Cys985del) deletion Pathogenic/Likely pathogenic rs199473679 GRCh37 Chromosome 17, 8133264: 8133266
13 CTC1 NM_025099.5(CTC1): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic rs397514660 GRCh37 Chromosome 17, 8139594: 8139594
14 CTC1 NM_025099.5(CTC1): c.1213delG (p.Asp405Metfs) deletion Pathogenic GRCh37 Chromosome 17, 8138597: 8138597

Expression for Cerebroretinal Microangiopathy with Calcifications and Cysts

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

Pathways for Cerebroretinal Microangiopathy with Calcifications and Cysts

GO Terms for Cerebroretinal Microangiopathy with Calcifications and Cysts

Cellular components related to Cerebroretinal Microangiopathy with Calcifications and Cysts according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.26 CTC1 STN1
2 nuclear chromosome, telomeric region GO:0000784 9.16 CTC1 STN1
3 chromosome, telomeric region GO:0000781 8.96 CTC1 STN1
4 CST complex GO:1990879 8.62 CTC1 STN1

Biological processes related to Cerebroretinal Microangiopathy with Calcifications and Cysts according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA replication GO:0045740 9.32 CTC1 STN1
2 telomere maintenance GO:0000723 9.26 CTC1 STN1
3 telomere capping GO:0016233 9.16 CTC1 STN1
4 negative regulation of telomere maintenance via telomerase GO:0032211 8.96 CTC1 STN1
5 telomere maintenance via telomere lengthening GO:0010833 8.62 CTC1 STN1

Molecular functions related to Cerebroretinal Microangiopathy with Calcifications and Cysts according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 single-stranded DNA binding GO:0003697 8.96 CTC1 STN1
2 telomeric DNA binding GO:0042162 8.62 CTC1 STN1

Sources for Cerebroretinal Microangiopathy with Calcifications and Cysts

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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