FGF23 gene related symptoms and diseases

All the information presented here about the FGF23 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,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 FGF23 gene

Symptoms // Phenotype	% Cases
Hypophosphatemia	Very Common - Between 80% and 100% cases
Hypophosphatemic rickets	Common - Between 50% and 80% cases
Rickets	Common - Between 50% and 80% cases
Bone pain	Common - Between 50% and 80% cases
Short stature	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FGF23 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Subperiosteal bone formation
Hyperostosis
Hyperphosphatemia
Calcinosis
Pain
Arthritis
Osteomalacia
Fatigue

And 46 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to FGF23 gene

Here you will find a list of rare diseases related to the FGF23. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS

Alternate names

AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS Is also known as adhr, autosomal dominant hypophosphatemia

Description

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.

Most common symptoms of AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS

Short stature
Muscle weakness
Fatigue
Congestive heart failure
Abnormality of the dentition

More info about AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS

SOURCES: ORPHANET

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Alternate names

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Is also known as vitamin d-resistant rickets, autosomal dominant, hypophosphatemia, autosomal dominant

Description

Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH ), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).See also hypophosphatemic bone disease (OMIM ). Genetic Heterogeneity of Hypophosphatemic RicketsOther forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (OMIM ), caused by mutation in the DMP1 gene (OMIM ) on chromosome 4q21, and ARHR2 (OMIM ), caused by mutation in the ENPP1 gene (OMIM ) on chromosome 6q22-q23. An X-linked dominant form (OMIM ) is caused by mutation in the PHEX gene (OMIM ), and an X-linked recessive form (OMIM ) is caused by mutation in the CLCN5 gene (OMIM ). Clinical Variability of Hypophosphatemic RicketsHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH ) is caused by mutation in the SLC34A3 gene (OMIM ), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (OMIM ) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO ).

Most common symptoms of HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Short stature
Hearing impairment
Scoliosis
Sensorineural hearing impairment
Pain

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

SOURCES: OMIM

FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME

Alternate names

FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME Is also known as cortical hyperostosis with hyperphosphatemia, calcinosis, tumoral, with hyperphosphatemia, hftc, hhs, hyperostosis with hyperphosphatemia, hypercalcemic tumoral calcinosis, tumoral calcinosis, hyperphosphatemic, familial, phptc, hyperostosis-hyperphosphatemia syn

Description

Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.

Most common symptoms of FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME

Pain
Anemia
Hypertension
Dilatation
Arthritis

More info about FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME

SOURCES: ORPHANET OMIM

TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2

Description

Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 (OMIM ) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR ), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see {211900}.

Most common symptoms of TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2

Facial palsy
Rickets
Hyperostosis
Hypophosphatemia
Hyperphosphatemia

More info about TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2

SOURCES: OMIM

Search interest in FGF23

Potential gene panels for FGF23 gene

Hypophosphatemic Rickets Evalation Panel

United States.

By Athena Diagnostics Inc Hypophosphatemic Rickets Evalation that also includes the following genes: FGF23 PHEX

FGF23 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to FGF23 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to FGF23 gene

AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Alternate names

Description

Most common symptoms of HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME

Alternate names

Description

Most common symptoms of FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME

TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2

Description

Most common symptoms of TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2

Search interest in FGF23

Potential gene panels for FGF23 gene

Hypophosphatemic Rickets Evalation Panel

FGF23 (Hypophosphatemic Rickets) DNA Sequencing Test Panel

Hypophosphatemic Rickets Deletion/Duplication Panel Panel

Hypophosphatemic Rickets Sequencing Panel Panel

ExomePLUS Electrolyte & Kidney Stone Panel

FGF23 Gene Sequencing Panel

Osteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel

FGF23. Complete sequencing Panel

FGF23. Complete sequencing Panel

Hypophosphatemic rickets (sequence analysis of FGF23 gene) Panel

Rickets (NGS panel for 10 genes) Panel

Tumoral calcinosis, hyperphosphatemic, familial (sequence analysis of FGF23 gene) Panel

Hypophosphatemic rickets (deletion/duplication analysis of FGF23 gene) Panel

Tumoral calcinosis, hyperphosphatemic, familial (sequence analysis of FGF23 gene) Panel

Hypophosphatemic rickets (deletion/duplication analysis of FGF23 gene) Panel

Hypophosphatemic rickets, autosomal dominant Panel

Autosomal dominant hypophosphatemic rickets Panel

Hypophosphatemic Rickets, Autosomal Dominant Panel

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

Abnormal mineralization disorders Comprehensive Panel Panel

Abnormal mineralization disorders Deletion/ Duplication Panel Panel

Abnormal mineralization disorders NGS panel Panel

Hyperphosphatemic familial tumoral calcinosis Comprehensive panel Panel

Hyperphosphatemic familial tumoral calcinosis Deletion / Duplication panel Panel

Hyperphosphatemic familial tumoral calcinosis NGS panel Panel

Hereditary kidney disorders - different panels Panel

Hypophosphatemic Rickets, Autosomal Dominant Panel

Hypophosphatemic rickets, AD Panel

Hypophosphatemic rickets Panel Panel

Skeletal dysplasia with abnormal mineralization Panel Panel

Hypophosphatemic Rickets Panel

Tumoral calcinosis, hyperphosphatemic, familial Panel

Hypophosphatemic Rickets Panel

Tumoral calcinosis, hyperphosphatemic, familial Panel

Hypophosphatemic rickets, Autosomal dominant: FGF23 gene sequence analysis Panel

Familial hypophosphatemic rickets: deletions-duplications analysis (MLPA) PHEX and FGF23 genes. Panel

Congenital disorder of O-linked glycosylation (CDG) Panel

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel

Skeletal Dysplasia: Sequencing Panel Panel

Skeletal Dysplasias NGS panel Panel

FGF23 Panel

KidneySeq - 264 Genes Panel

Hypophosphatemic Rickets Panel Panel

Osteogenesis Imperfecta 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

Hypophosphatemic rickets, autosomal dominant Panel

Tumoral calcinosis Panel

FoundationOne® Heme Panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS) (AUTOSOMAL DOMINANT) Panel

FAMILIAL HYPOPHOSPHATEMIC RICKETS: NGS PANEL Panel

HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS): NGS PANEL Panel