NHP2 gene related symptoms and diseases
All the information presented here about the NHP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NHP2 gene
Symptoms // Phenotype | % Cases |
---|---|
Nail dysplasia | Very Common - Between 80% and 100% cases |
Thrombocytopenia | Very Common - Between 80% and 100% cases |
Pancytopenia | Very Common - Between 80% and 100% cases |
Bone marrow hypocellularity | Very Common - Between 80% and 100% cases |
Cirrhosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NHP2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Nail dystrophy
- Hyperpigmentation of the skin
- Hepatic fibrosis
- Abnormality of skin pigmentation
- Carious teeth
- Testicular atrophy
- Intellectual disability
- Osteoporosis
And 96 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NHP2 gene
Here you will find a list of rare diseases related to the NHP2. 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
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
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2
Description
Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by Vulliamy et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).
Most common symptoms of DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2
- Intellectual disability
- Growth delay
- Neoplasm
- Thrombocytopenia
- Nail dystrophy
More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2
SOURCES: OMIM
Search interest in NHP2
Potential gene panels for NHP2 gene
Telomere Shortening Disorders Spectrum NGS Panel Panel
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 panelBone Marrow Failure Panel
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 panelBone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel
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 panelDyskeratosis Congenita panel by next-generation sequencing (NGS) Panel
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 panelNOLA2 (NHP2) Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the NHP2 gene.
More info about this panelBone Marrow Failure Syndromes Deletion/Duplication Panel Panel
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 panelDyskeratosis Congenita Deletion/Duplication Panel Panel
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 panelNOLA2 (NHP2) Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the NHP2 gene.
More info about this panelInherited Bone Marrow Failure Sequencing Panel Panel
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 panelComprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel Panel
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 panelHereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
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 panelDCNext Panel
By Ambry Genetics DCNext that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 WRAP53 DKC1
More info about this panelDyskeratosis congenita 2 AR(sequence analysis of NHP2 gene) Panel
By CGC Genetics
This panel specifically test the NHP2 gene.
More info about this panelDyskeratosis congenita (NGS panel for 8 genes) Panel
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 panelDyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection Panel
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 panelDyskeratosis Congenita (DC) via NHP2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the NHP2 gene.
More info about this panelDyskeratosis congenita NGS panel Panel
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 panelDyskeratosis congenita Deletion / Duplication panel Panel
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 panelDyskeratosis congenita Comprehensive panel Panel
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 panelDyskeratosis congenita, AR type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the NHP2 gene.
More info about this panelDisorders associated with malignancy Panel Panel
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 panelDyskeratosis congenita Panel Panel
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 panelBone marrow failure syndromes Panel Panel
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 panelSyndromes with immunodeficiency Panel Panel
By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1
More info about this panelNGS Panel for Dyskeratosis congenita Panel
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 panelInvitae Dyskeratosis Congenita Panel Panel
By Invitae Invitae Dyskeratosis Congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 CTC1 DKC1
More info about this panelInvitae Bone Marrow Failure Syndromes Panel Panel
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 panelInvitae Primary Immunodeficiency Panel Panel
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 panelInvitae Syndromic Combined Immunodeficiency (CID) Panel Panel
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 panelDyskeratosis Congenita NGS Panel Panel
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 panelIntellectual Disability NGS Panel Panel
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 panelNHP2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NHP2 gene.
More info about this panelPrimary Immunodeficiency Panel Panel
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 panelDyskeratosis Congenita Panel Panel
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 panelComprehensive Hematology Panel Panel
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 panelBone Marrow Failure Syndrome Panel Panel
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 panelInherited Bone Marrow Failure Panel Panel
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 panelDYSKERATOSIS CONGENITA (AUTOSOMAL RECESSIVE) Panel
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 panelDYSKERATOSIS CONGENITA Panel
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 panelBone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel
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 panelCongenital Dyskeratosis , Panel Massive Sequencing (NGS) 8 genes Panel
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 panelTempus xT assay Panel
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 panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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