NOP10 gene related symptoms and diseases

All the information presented here about the NOP10 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NOP10 gene

Symptoms // Phenotype % Cases
Pulmonary fibrosis Very Common - Between 80% and 100% cases
Thrombocytopenia Very Common - Between 80% and 100% cases
Pancytopenia Very Common - Between 80% and 100% cases
Cirrhosis Very Common - Between 80% and 100% cases
Abnormality of skin pigmentation Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NOP10 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hyperpigmentation of the skin
  • Carious teeth
  • Nail dystrophy
  • Hepatic fibrosis
  • Bone marrow hypocellularity
  • Osteoporosis
  • Nail dysplasia
  • Alopecia

And 95 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NOP10 gene

Here you will find a list of rare diseases related to the NOP10. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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

DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1


Description

Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Most common symptoms of DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

  • Intellectual disability
  • Microcephaly
  • Abnormality of the dentition
  • Thrombocytopenia
  • Alopecia


More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

SOURCES: MESH OMIM


Potential gene panels for NOP10 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

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24

More info about this panel

Dyskeratosis Congenita panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Dyskeratosis Congenita panel by next-generation sequencing (NGS) that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 DKC1

More info about this panel

NOLA3 (NOP10) 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 NOP10 gene.

More info about this panel

Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Deletion/Duplication Panel that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

Dyskeratosis Congenita Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Dyskeratosis Congenita Deletion/Duplication Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 DKC1

More info about this panel

NOLA3 (NOP10) Deletion/duplication analysis 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 NOP10 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

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

DCNext Panel

United States.

By Ambry Genetics DCNext that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 WRAP53 DKC1

More info about this panel

Dyskeratosis congenita 1 AR (sequence analysis of NOP10 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NOP10 gene.

More info about this panel

Dyskeratosis congenita (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Dyskeratosis congenita (NGS panel for 8 genes) that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 DKC1

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

Dyskeratosis Congenita (DC) via NOP10 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NOP10 gene.

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

Dyskeratosis congenita, AR type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NOP10 gene.

More info about this panel

Comprehensive pulmonary disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD

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

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

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

ONCOLOGY, PANEL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4

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

NOP10 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NOP10 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

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

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

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

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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