TCIRG1 gene related symptoms and diseases

All the information presented here about the TCIRG1 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 TCIRG1 gene

Symptoms // Phenotype % Cases
Seizures Common - Between 50% and 80% cases
Pancytopenia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Osteopetrosis Common - Between 50% and 80% cases
Bone marrow hypocellularity Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with TCIRG1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Increased bone mineral density
  • Hypocalcemia
  • Not very common - Between 30% and 50% cases

  • Hepatomegaly
  • Anemia
  • Macrocephaly
  • Nystagmus
  • Hydrocephalus
  • Optic atrophy

And 70 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TCIRG1 gene

Here you will find a list of rare diseases related to the TCIRG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT SEVERE CONGENITAL NEUTROPENIA


Description

Autosomal dominant severe congenital neutropenia is a rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.


More info about AUTOSOMAL DOMINANT SEVERE CONGENITAL NEUTROPENIA

SOURCES: ORPHANET

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1


Alternate names

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive, osteopetrosis, infantile malignant 1, albers-schonberg disease, autosomal recessive

Description

Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

Most common symptoms of OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

SOURCES: OMIM MESH

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS


Alternate names

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS Is also known as infantile malignant osteopetrosis, osteopetrosis, infantile malignant 2

Description

Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.

Most common symptoms of AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Nystagmus


More info about AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

SOURCES: OMIM ORPHANET MESH

INTERMEDIATE OSTEOPETROSIS


Alternate names

INTERMEDIATE OSTEOPETROSIS Is also known as autosomal recessive intermediate osteopetrosis, osteopetrosis, autosomal recessive, intermediate form

Description

Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.

Most common symptoms of INTERMEDIATE OSTEOPETROSIS

  • Seizures
  • Short stature
  • Pain
  • Pancytopenia
  • Increased bone mineral density


More info about INTERMEDIATE OSTEOPETROSIS

SOURCES: ORPHANET OMIM MESH


Potential gene panels for TCIRG1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

TCIRG1 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the TCIRG1 gene.

More info about this panel

TCIRG1 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the TCIRG1 gene.

More info about this panel

TCIRG1 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the TCIRG1 gene.

More info about this panel

TCIRG1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the TCIRG1 gene.

More info about this panel

TCIRG1 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 TCIRG1 gene.

More info about this panel

TCIRG1 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 TCIRG1 gene.

More info about this panel

TCIRG1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TCIRG1 gene.

More info about this panel

Osteopetrosis (sequence analysis of TCIRG1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TCIRG1 gene.

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

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Osteopetrosis via TCIRG1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TCIRG1 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Osteopetrosis core NGS panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis core NGS panel that also includes the following genes: TCIRG1 CLCN7 OSTM1

More info about this panel

Osteopetrosis core Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis core Deletion / Duplication panel that also includes the following genes: TCIRG1 CLCN7 OSTM1

More info about this panel

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis core Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis core Comprehensive panel that also includes the following genes: TCIRG1 CLCN7 OSTM1

More info about this panel

Osteopetrosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis Deletion / Duplication panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK

More info about this panel

Osteopetrosis and Dense bone dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis Comprehensive panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK

More info about this panel

Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis NGS panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK

More info about this panel

Osteopetrosis, autosomal recessive 1 NGS test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TCIRG1 gene.

More info about this panel

Osteopetrosis, autosomal recessive 1 Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TCIRG1 gene.

More info about this panel

Osteopetrosis, autosomal recessive 1 Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TCIRG1 gene.

More info about this panel

Osteopetrosis autosomal recessive type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TCIRG1 gene.

More info about this panel

Skeletal dysplasia with increased bone density Panel Panel

Germany.

By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10

More info about this panel

Defects of phagocytosis Panel Panel

Germany.

By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3

More info about this panel

Osteopetrosis: TCIRG1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TCIRG1 gene.

More info about this panel

OSTEOPETROSIS Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases OSTEOPETROSIS that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5

More info about this panel

Skeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia With Increased Bone Density: Sequencing Panel that also includes the following genes: TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST ANKH

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

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Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

TCIRG1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TCIRG1 gene.

More info about this panel

Osteopetrosis and Dense Bone Dysplasia Panel Panel

Finland.

By Blueprint Genetics Osteopetrosis and Dense Bone Dysplasia Panel that also includes the following genes: SLCO2A1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST SNX10

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Autosomal recessive malignant osteopetrosis Panel

Spain.

By Bioarray

This panel specifically test the TCIRG1 gene.

More info about this panel

Severe Congenital Neutropenia Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Severe Congenital Neutropenia Gene Set that also includes the following genes: RUNX1 SRP54 TAZ TCIRG1 WAS VPS45 HAX1 SBDS LYST VPS13B

More info about this panel

TCIRG1 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the TCIRG1 gene.

More info about this panel

Osteopetrosis NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Osteopetrosis NGS and Deletion/Duplication Panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5

More info about this panel

Autosomal Recessive Osteopetrosis (TCIRG1) Targeted Testing Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the TCIRG1 gene.

More info about this panel

OSTEOPETROSIS, AUTOSOMAL RECESSIVE Panel

Spain.

By Laboratorio de Genetica Clinica SL OSTEOPETROSIS, AUTOSOMAL RECESSIVE that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1

More info about this panel

OSTEOPETROSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL OSTEOPETROSIS NGS PANEL that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5

More info about this panel

Infantile Malignant Osteopetrosis , Sequencing TCIRG1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TCIRG1 gene.

More info about this panel

Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5

More info about this panel


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