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.

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 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.

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

Search interest in TNFRSF11A

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

TNFRSF11A gene related symptoms and diseases

Top 5 symptoms and clinical features associated to TNFRSF11A 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 TNFRSF11A gene

OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME

Alternate names

Description

Most common symptoms of OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME

JUVENILE PAGET DISEASE

Alternate names

Description

Most common symptoms of JUVENILE PAGET DISEASE

PAGET DISEASE OF BONE 2, EARLY-ONSET; PDB2

Description

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

FAMILIAL EXPANSILE OSTEOLYSIS

Alternate names

Description

Most common symptoms of FAMILIAL EXPANSILE OSTEOLYSIS

ADULT-ONSET MYASTHENIA GRAVIS

Alternate names

Description

Search interest in TNFRSF11A

Potential gene panels for TNFRSF11A gene

MitoMet®Plus aCGH Analysis Panel

TNFRSF11A Sequence Analysis (Prenatal Diagnosis) Panel

TNFRSF11A Sequence Analysis Panel

TNFRSF11A Deletion/Duplication Analysis Panel

TNFRSF11A Comprehensive - Sequence & Deletion/Duplication Analysis Panel

Low Bone Mass Panel (MitomeNGS) Panel

TNFRSF11A Panel

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

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

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

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

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

Paget disease of bone and related disorders Comprehensive panel Panel

Paget disease of bone and related disorders NGS panel Panel

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

Osteopetrosis and Dense bone dysplasia Deletion / Duplication 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 type 7 Panel

Skeletal dysplasia with increased bone density Panel Panel

OSTEOPETROSIS Panel

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel

Skeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel

Skeletal Dysplasia: Sequencing Panel Panel

Paget Disease of Bone NGS Panel Panel

Skeletal Dysplasias NGS panel Panel

TNFRSF11A Panel

PAGET-Complete Panel

Osteopetrosis and Dense Bone Dysplasia Panel Panel

Skeletal Dysplasias Core Panel Panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Skeletal Dysplasia with Abnormal Mineralization Panel Panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Osteopetrosis NGS and Deletion/Duplication Panel Panel

TNFRSF11A Gene Sequencing and Deletion/Duplication Panel

FoundationOne® Heme Panel

OSTEOPETROSIS, AUTOSOMAL RECESSIVE Panel

OSTEOPETROSIS NGS PANEL Panel

Autosomal Recessive Malignant Osteopetrosis Type 7 , Sequencing TNFRSF11A Gene Panel

Paget Disease of Bone , Sequencing TNFRSF11A Gene Panel

Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes Panel

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

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