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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in TCIRG1

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

TCIRG1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to TCIRG1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to TCIRG1 gene

AUTOSOMAL DOMINANT SEVERE CONGENITAL NEUTROPENIA

Description

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Alternate names

Description

Most common symptoms of OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

INTERMEDIATE OSTEOPETROSIS

Alternate names

Description

Most common symptoms of INTERMEDIATE OSTEOPETROSIS

Search interest in TCIRG1

Potential gene panels for TCIRG1 gene

MitoMet®Plus aCGH Analysis Panel

TCIRG1 Sequence Analysis (Prenatal Diagnosis) Panel

TCIRG1 Sequence Analysis Panel

TCIRG1 Deletion/Duplication Analysis Panel

TCIRG1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

TCIRG1 Sequencing Panel

TCIRG1 Deletion/duplication analysis Panel

TCIRG1. Complete sequencing Panel

Osteopetrosis (sequence analysis of TCIRG1 gene) Panel

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

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

Osteopetrosis via TCIRG1 Gene Sequencing with CNV Detection Panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

Osteopetrosis core NGS panel Panel

Osteopetrosis core Deletion / Duplication panel Panel

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel

Osteopetrosis core Comprehensive panel Panel

Osteopetrosis Deletion / Duplication panel Panel

Osteopetrosis and Dense bone dysplasia NGS panel Panel

Osteopetrosis Comprehensive panel Panel

Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel

Osteopetrosis NGS panel Panel

Osteopetrosis, autosomal recessive 1 NGS test Panel

Osteopetrosis, autosomal recessive 1 Deletion / Duplication test Panel

Osteopetrosis, autosomal recessive 1 Comprehensive test Panel

Osteopetrosis autosomal recessive type 1 Panel

Skeletal dysplasia with increased bone density Panel Panel

Defects of phagocytosis Panel Panel

Osteopetrosis: TCIRG1 gene sequence analysis Panel

OSTEOPETROSIS Panel

Skeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel

Skeletal Dysplasia: Sequencing Panel Panel

Nuclear-Mito NGS Panel Panel

Skeletal Dysplasias NGS panel Panel

TCIRG1 Panel

Osteopetrosis and Dense Bone Dysplasia Panel Panel

Skeletal Dysplasias Core Panel Panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Autosomal recessive malignant osteopetrosis Panel

Severe Congenital Neutropenia Gene Set Panel

TCIRG1 Gene Sequencing and Deletion/Duplication Analysis Panel

Osteopetrosis NGS and Deletion/Duplication Panel Panel

Autosomal Recessive Osteopetrosis (TCIRG1) Targeted Testing Panel

OSTEOPETROSIS, AUTOSOMAL RECESSIVE Panel

OSTEOPETROSIS NGS PANEL Panel

Infantile Malignant Osteopetrosis , Sequencing TCIRG1 Gene Panel

Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes Panel