Cerebroretinal Microangiopathy With Calcifications And Cysts 1; Crmcc1

Description

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 (OMIM ), 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 CystsSee also CRMCC2 (OMIM ), caused by mutation in the STN1 gene (OMIM ) on chromosome 10q24.

Clinical Features

Top most frequent phenotypes and symptoms related to Cerebroretinal Microangiopathy With Calcifications And Cysts 1; Crmcc1

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay
  • Strabismus
  • Spasticity
  • Anemia
  • Dysarthria
  • Intrauterine growth retardation
And another 54 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Cerebroretinal Microangiopathy With Calcifications And Cysts 1; Crmcc1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Telomere Shortening Disorders Spectrum NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

TINF2, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10
Specificity
13 %
Genes
100 %
Bone Marrow Failure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

BRCA2, RPL35A, FANCC, RPS19, TINF2, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, MPL, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
CTC1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CTC1
Specificity
100 %
Genes
100 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA2, RUNX1, ALAS2, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, SBF2, GATA1, RPS26, RPS10 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel.

By Genetic Services Laboratory University of Chicago in United States.

TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, ACD, POT1, NAF1
Specificity
8 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
CTC1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CTC1
Specificity
100 %
Genes
100 %
Cerebroretinal microangiopathy with calcifications and cysts (sequence analysis of CTC1).

By CGC Genetics in Portugal.

CTC1
Specificity
100 %
Genes
100 %
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TINF2, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10
Specificity
13 %
Genes
100 %
Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats plus syndrome) via CTC1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CTC1
Specificity
100 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
100 %
Dyskeratosis congenita NGS panel.

By Connective Tissue Gene Tests in United States.

TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, ACD
Specificity
9 %
Genes
100 %
Dyskeratosis congenita Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, ACD
Specificity
9 %
Genes
100 %
Dyskeratosis congenita Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, ACD
Specificity
9 %
Genes
100 %
Cerebral small vessel disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1, COL4A2
Specificity
15 %
Genes
100 %
Cerebral small vessel disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1, COL4A2
Specificity
15 %
Genes
100 %
Cerebral small vessel disease NGS panel.

By Connective Tissue Gene Tests in United States.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1, COL4A2
Specificity
15 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Coat plus syndrome.

By Centogene AG - the Rare Disease Company in Germany.

CTC1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Disorders associated with malignancy Panel.

By CeGaT GmbH in Germany.

MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, SDHB, BLM, TINF2, TSC2, TSC1, ATM, PTCH1, NF2, STK11, SDHD, FLCN, PRKAR1A, RTEL1, NF1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Dyskeratosis congenita Panel.

By CeGaT GmbH in Germany.

TINF2, RTEL1, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10, USB1
Specificity
10 %
Genes
100 %
Basal ganglia calcification Panel.

By CeGaT GmbH in Germany.

TYROBP, POLG, PANK2, CA2, GALC, AIRE, BRAF, FOLR1, COL4A1, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, GFAP, GATA3, ERCC6, IFIH1, ADAR, CTC1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
100 %
Small vessel disease Panel.

By CeGaT GmbH in Germany.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1
Specificity
17 %
Genes
100 %
Bone marrow failure syndromes Panel.

By CeGaT GmbH in Germany.

BRCA2, FANCC, TINF2, MRE11, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, RTEL1, WAS, FANCB, DKC1, LYST, TERC, TERT, CSF2RA, CTC1, WRAP53 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Leukodystrophy / Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

AARS2, TYROBP, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, ALDH3A2, ACOX1, GALC, L2HGDH, GBE1, GCDH, CYP27A1, ARSA, ASPA, EIF2B1, GJC2, PLP1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Invitae Dyskeratosis Congenita Panel.

By Invitae in United States.

TINF2, DKC1, TERC, TERT, CTC1, NHP2, NOP10
Specificity
15 %
Genes
100 %
Invitae Bone Marrow Failure Syndromes Panel.

By Invitae in United States.

BRCA2, RUNX1, RPL35A, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, WAS, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
CTC1 - Gene Sequencing.

By Genome Diagnostics VU University Medical Center in Netherlands.

CTC1
Specificity
100 %
Genes
100 %
Dyskeratosis Congenita NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TINF2, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10
Specificity
13 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
CTC1.

By Fulgent Genetics Fulgent Genetics in United States.

CTC1
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Dyskeratosis Congenita Panel.

By Blueprint Genetics in Finland.

AK2, TINF2, RTEL1, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, USB1, DCLRE1B
Specificity
8 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

ELN, PITX2, JAG1, BCOR, CHD7, DHCR7, HRAS, SOS2, CBL, NSD1, GPC3, ENG, NF1, FLNA, TBX1, ACTB, ACTG1, HOXA1, RBM10, NODAL , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

PSAP, HSPD1, FOXRED1, NFU1, TTC19, NUBPL, DARS2, GFM1, D2HGDH, AIFM1, ABCD1, ALDH3A2, COX15, SDHAF1, NDUFAF5, HIBCH, GALC, L2HGDH, COX6B1, CYP27A1 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Vitreoretinopathy Panel.

By Blueprint Genetics in Finland.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CTNNB1, ZNF408, KIF11, CTC1, COL18A1, VCAN , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Cerebroretinal microangiopathy with calcifications and cysts.

By Bioarray in Spain.

CTC1
Specificity
100 %
Genes
100 %
Inherited Bone Marrow Failure Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA2, RUNX1, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, CEBPA, RAD51C, MPL, RTEL1, WAS, GATA1, RPS26, RPS10, RPL11 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %
Coats Plus Syndrome , Sequencing CTC1 Gene.

By Reference Laboratory Genetics in Spain.

CTC1
Specificity
100 %
Genes
100 %
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %
Congenital Dyskeratosis , Panel Massive Sequencing (NGS) 8 genes.

By Reference Laboratory Genetics in Spain.

TINF2, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10
Specificity
13 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %

Alternate names

Cerebroretinal Microangiopathy With Calcifications And Cysts 1; Crmcc1 Is also known as crmcc, coats plus syndrome;crmcc; cerebroretinal microangiopathy with calcifications and cysts.



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