CTC1 gene related symptoms and diseases

All the information presented here about the CTC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CTC1 gene

Symptoms // Phenotype % Cases
Strabismus Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CTC1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Growth delay
  • Anemia
  • Bone marrow hypocellularity
  • Thrombocytopenia
  • Retinal telangiectasia
  • Cerebral calcification
  • Osteoporosis
  • Nail dysplasia

And 141 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CTC1 gene

Here you will find a list of rare diseases related to the CTC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COATS DISEASE


Alternate names

COATS DISEASE Is also known as retinal telangiectasis, congenital retinal telangiectasia, leber miliary aneurysm

Description

Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.

Most common symptoms of COATS DISEASE

  • Strabismus
  • Cataract
  • Edema
  • Visual loss
  • Glaucoma


More info about COATS DISEASE

SOURCES: ORPHANET OMIM MESH

DYSKERATOSIS CONGENITA


Alternate names

DYSKERATOSIS CONGENITA Is also known as dkc, dc, dyskeratosis congenita, scoggins type, zinsser-engman-cole syndrome

Description

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

Most common symptoms of DYSKERATOSIS CONGENITA

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


More info about DYSKERATOSIS CONGENITA

SOURCES: ORPHANET MESH OMIM

COATS PLUS SYNDROME


Alternate names

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts, coats plus syndrome, crmcc

Description

Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

Most common symptoms of COATS PLUS SYNDROME

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


More info about COATS PLUS SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for CTC1 gene

Telomere Shortening Disorders Spectrum NGS Panel Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Telomere Shortening Disorders Spectrum NGS Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 WRAP53 CTC1 DKC1

More info about this panel

Bone Marrow Failure Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Bone Marrow Failure that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS15 RPS19 RPS24 RPS26 RPS27A RPS7

More info about this panel

CTC1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CTC1 gene.

More info about this panel

Inherited Bone Marrow Failure Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 POT1 ACD NAF1 WRAP53

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

CTC1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CTC1 gene.

More info about this panel

Cerebroretinal microangiopathy with calcifications and cysts (sequence analysis of CTC1) Panel

Portugal.

By CGC Genetics

This panel specifically test the CTC1 gene.

More info about this panel

Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 CTC1 DKC1 PARN

More info about this panel

Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats plus syndrome) via CTC1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CTC1 gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

Dyskeratosis congenita NGS panel Panel

United States.

By Connective Tissue Gene Tests Dyskeratosis congenita NGS panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1

More info about this panel

Dyskeratosis congenita Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Dyskeratosis congenita Deletion / Duplication panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1

More info about this panel

Dyskeratosis congenita Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Dyskeratosis congenita Comprehensive panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1

More info about this panel

Cerebral small vessel disease Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cerebral small vessel disease Comprehensive panel that also includes the following genes: TREX1 COL4A1 COL4A2 CTC1 GLA NOTCH3 HTRA1

More info about this panel

Cerebral small vessel disease Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cerebral small vessel disease Deletion / Duplication panel that also includes the following genes: TREX1 COL4A1 COL4A2 CTC1 GLA NOTCH3 HTRA1

More info about this panel

Cerebral small vessel disease NGS panel Panel

United States.

By Connective Tissue Gene Tests Cerebral small vessel disease NGS panel that also includes the following genes: TREX1 COL4A1 COL4A2 CTC1 GLA NOTCH3 HTRA1

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Coat plus syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CTC1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Disorders associated with malignancy Panel Panel

Germany.

By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA

More info about this panel

Dyskeratosis congenita Panel Panel

Germany.

By CeGaT GmbH Dyskeratosis congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 USB1 CTC1 DKC1

More info about this panel

Basal ganglia calcification Panel Panel

Germany.

By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2

More info about this panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

More info about this panel

Small vessel disease Panel Panel

Germany.

By CeGaT GmbH Small vessel disease Panel that also includes the following genes: TREX1 COL4A1 CTC1 GLA NOTCH3 HTRA1

More info about this panel

Bone marrow failure syndromes Panel Panel

Germany.

By CeGaT GmbH Bone marrow failure syndromes Panel that also includes the following genes: BRCA2 SRP72 STX11 STXBP2 TERC TERT TINF2 WAS XRCC2 NHP2

More info about this panel

Leukodystrophy / Leukoencephalopathy Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1

More info about this panel

NGS Panel for Dyskeratosis congenita Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Dyskeratosis congenita that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1

More info about this panel

Invitae Dyskeratosis Congenita Panel Panel

United States.

By Invitae Invitae Dyskeratosis Congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 CTC1 DKC1

More info about this panel

Invitae Bone Marrow Failure Syndromes Panel Panel

United States.

By Invitae Invitae Bone Marrow Failure Syndromes Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 RUNX1

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT

More info about this panel

CTC1 - Gene Sequencing Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the CTC1 gene.

More info about this panel

Dyskeratosis Congenita NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Dyskeratosis Congenita NGS Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 WRAP53 CTC1 DKC1

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

CTC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CTC1 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Dyskeratosis Congenita Panel Panel

Finland.

By Blueprint Genetics Dyskeratosis Congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 DCLRE1B WRAP53 USB1 CTC1

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Congenital Structural Heart Disease Panel Panel

Finland.

By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Leukodystrophy and Leukoencephalopathy Panel Panel

Finland.

By Blueprint Genetics Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: SCO1 AIMP1 SOX10 TREX1 GFM1 NDUFAF5 SAMHD1 NFU1 MRPL44 MLC1

More info about this panel

Vitreoretinopathy Panel Panel

Finland.

By Blueprint Genetics Vitreoretinopathy Panel that also includes the following genes: RS1 BEST1 ATOH7 CAPN5 P3H2 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

Cerebroretinal microangiopathy with calcifications and cysts Panel

Spain.

By Bioarray

This panel specifically test the CTC1 gene.

More info about this panel

Inherited Bone Marrow Failure Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26

More info about this panel

DYSKERATOSIS CONGENITA (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL DYSKERATOSIS CONGENITA (AUTOSOMAL RECESSIVE) that also includes the following genes: NHP2 NOP10 RTEL1 WRAP53 USB1 CTC1

More info about this panel

DYSKERATOSIS CONGENITA Panel

Spain.

By Laboratorio de Genetica Clinica SL DYSKERATOSIS CONGENITA that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 USB1 CTC1 GRHL2

More info about this panel

COATS PLUS SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CTC1 gene.

More info about this panel

Coats Plus Syndrome , Sequencing CTC1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CTC1 gene.

More info about this panel

Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel

Spain.

By Reference Laboratory Genetics Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26

More info about this panel

Congenital Dyskeratosis , Panel Massive Sequencing (NGS) 8 genes Panel

Spain.

By Reference Laboratory Genetics Congenital Dyskeratosis , Panel Massive Sequencing (NGS) 8 genes that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 WRAP53 CTC1 DKC1

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel


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