TNFRSF11A gene related symptoms and diseases

All the information presented here about the TNFRSF11A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TNFRSF11A gene

Symptoms // Phenotype % Cases
Premature loss of teeth Common - Between 50% and 80% cases
Hydroxyprolinuria Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Increased bone mineral density Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with TNFRSF11A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Elevated alkaline phosphatase
  • Not very common - Between 30% and 50% cases

  • Progressive hearing impairment
  • Bone pain
  • Osteolysis
  • Abnormality of the dentition
  • Hypercalcemia
  • Recurrent fractures
  • Bowing of the long bones

And 72 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TNFRSF11A gene

Here you will find a list of rare diseases related to the TNFRSF11A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME


Alternate names

OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME Is also known as osteopetrosis, osteoclast-poor, with hypogammaglobulinemia, autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia, autosomal recessive osteopetrosis type 7

Description

Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.

Most common symptoms of OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME

  • Seizures
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Anemia


More info about OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME

SOURCES: MESH ORPHANET OMIM

JUVENILE PAGET DISEASE


Alternate names

JUVENILE PAGET DISEASE Is also known as familial osteoectasia, hyperphosphatasia, familial idiopathic, juvenile paget disease, hyperostosis corticalis deformans juvenilis, hereditary hyperphosphatasia, osteoectasia, familial, hyperphosphatasemia, chronic congenital idiopathic, juvenile paget's disease

Description

Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.

Most common symptoms of JUVENILE PAGET DISEASE

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


More info about JUVENILE PAGET DISEASE

SOURCES: MESH ORPHANET OMIM

PAGET DISEASE OF BONE 2, EARLY-ONSET; PDB2


Description

Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014).For a discussion of genetic heterogeneity of Paget disease of bone, see {167250}.

Most common symptoms of PAGET DISEASE OF BONE 2, EARLY-ONSET; PDB2

  • Hearing impairment
  • Pain
  • Tetraparesis
  • Bone pain
  • Increased bone mineral density


More info about PAGET DISEASE OF BONE 2, EARLY-ONSET; PDB2

SOURCES: OMIM

FAMILIAL EXPANSILE OSTEOLYSIS


Alternate names

FAMILIAL EXPANSILE OSTEOLYSIS Is also known as expansile osteolysis, familial, eof, mccabe disease, hereditary expansile polyostotic osteolytic dysplasia, polyostotic osteolytic dysplasia, hereditary expansile, hepod

Description

Familial expansile osteolysis is an autosomal dominant bone dysplasia characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton. There is medullary and cortical expansion of the bone without sclerosis, leading to painful and disabling deformities and tendency to pathologic fracture. Clinical features include onset of conductive hearing loss in childhood, premature loss of teeth, and variably increased serum alkaline phosphatase (summary by Palenzuela et al., 2002 and Elahi et al., 2007).

Most common symptoms of FAMILIAL EXPANSILE OSTEOLYSIS

  • Hearing impairment
  • Neoplasm
  • Pain
  • Abnormality of the dentition
  • Osteoporosis


More info about FAMILIAL EXPANSILE OSTEOLYSIS

SOURCES: OMIM MESH ORPHANET

ADULT-ONSET MYASTHENIA GRAVIS


Alternate names

ADULT-ONSET MYASTHENIA GRAVIS Is also known as adult-onset acquired myasthenia, adult-onset autoimmune myasthenia gravis

Description

Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma (see this term).


More info about ADULT-ONSET MYASTHENIA GRAVIS

SOURCES: ORPHANET


Potential gene panels for TNFRSF11A 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

TNFRSF11A Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the TNFRSF11A gene.

More info about this panel

TNFRSF11A Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the TNFRSF11A gene.

More info about this panel

TNFRSF11A Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the TNFRSF11A gene.

More info about this panel

TNFRSF11A Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the TNFRSF11A gene.

More info about this panel

Low Bone Mass Panel (MitomeNGS) Panel

United States.

By Baylor Miraca Genetics Laboratories Low Bone Mass Panel (MitomeNGS) that also includes the following genes: SLC34A1 SLC9A3R1 TNFRSF11A TNFRSF11B IFITM5 SP7 FKBP10 P3H1 SLC39A13 COL1A2

More info about this panel

TNFRSF11A Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the TNFRSF11A gene.

More info about this panel

Paget Disease of Bone (sequence analysis of TNFRSF11A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TNFRSF11A gene.

More info about this panel

Osteopetrosis, autosomal recessive 7 (sequence analysis of TNFRSF11A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TNFRSF11A gene.

More info about this panel

Paget Disease of Bone (PDB) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Paget Disease of Bone (PDB) Sequencing Panel with CNV Detection that also includes the following genes: SQSTM1 TNFRSF11A

More info about this panel

Paget Disease of Bone, Autosomal Recessive Osteopetrosis, and Familial Expansile Osteolysis via TNFRSF11A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TNFRSF11A 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

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Paget disease of bone and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Paget disease of bone and related disorders Comprehensive panel that also includes the following genes: SQSTM1 TNFRSF11A TNFRSF11B VCP ZNF687 HNRNPA1 HNRNPA2B1

More info about this panel

Paget disease of bone and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Paget disease of bone and related disorders NGS panel that also includes the following genes: SQSTM1 TNFRSF11A TNFRSF11B VCP ZNF687 HNRNPA1 HNRNPA2B1

More info about this panel

Paget disease of bone and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Paget disease of bone and related disorders Deletion / Duplication panel that also includes the following genes: SQSTM1 TNFRSF11A TNFRSF11B VCP ZNF687 HNRNPA1 HNRNPA2B1

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 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 type 7 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TNFRSF11A 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

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

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10

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

Paget Disease of Bone NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Paget Disease of Bone NGS Panel that also includes the following genes: SQSTM1 TNFRSF11A

More info about this panel

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

TNFRSF11A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TNFRSF11A gene.

More info about this panel

PAGET-Complete Panel

Hungary.

By PentaCoreLab PAGET-Complete that also includes the following genes: SQSTM1 TNFRSF11A TNFRSF11B TNFSF11 VCP OPTN DCSTAMP CSF1

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

Skeletal Dysplasia with Abnormal Mineralization Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5

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

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

TNFRSF11A Gene Sequencing and Deletion/Duplication Panel

United States.

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

This panel specifically test the TNFRSF11A gene.

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

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

Autosomal Recessive Malignant Osteopetrosis Type 7 , Sequencing TNFRSF11A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TNFRSF11A gene.

More info about this panel

Paget Disease of Bone , Sequencing TNFRSF11A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TNFRSF11A 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

Paget Disease of Bone , Panel Massive Sequencing (NGS) SQSTM1, TNFRSF11A, TNFRSF11B Genes Panel

Spain.

By Reference Laboratory Genetics Paget Disease of Bone , Panel Massive Sequencing (NGS) SQSTM1, TNFRSF11A, TNFRSF11B Genes that also includes the following genes: SQSTM1 TNFRSF11A TNFRSF11B

More info about this panel

Osteolysis and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Osteolysis and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SQSTM1 TNFRSF11A TYROBP BANF1 TREM2 MMP2

More info about this panel


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