KL gene related symptoms and diseases
All the information presented here about the KL gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KL gene
Symptoms // Phenotype | % Cases |
---|---|
Rickets | Very Common - Between 80% and 100% cases |
Hyperostosis | Very Common - Between 80% and 100% cases |
Hypophosphatemic rickets | Very Common - Between 80% and 100% cases |
Calcinosis | Very Common - Between 80% and 100% cases |
Hyperphosphatemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with KL gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Subperiosteal bone formation
- Hypophosphatemia
Not very common - Between 30% and 50% cases
- Pulp stones
- Periostosis
- Pain
- Septic arthritis
- Calcinosis cutis
- Periostitis
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KL gene
Here you will find a list of rare diseases related to the KL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3
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 (OMIM ) 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, 3; HFTC3
- Osteopenia
- Erythema
- Cerebral calcification
- Rickets
- Hyperostosis
More info about TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3
SOURCES: OMIM
Search interest in KL
Potential gene panels for KL gene
KL. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KL gene.
More info about this panelTumoral calcinosis, hyperphosphatemic (sequence analysis of KL gene) Panel
By CGC Genetics
This panel specifically test the KL gene.
More info about this panelTumoral calcinosis, hyperphosphatemic Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the KL gene.
More info about this panelHypophosphatemic rickets with hyperparathyroidism Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the KL gene.
More info about this panelHyperphosphatemic Familial Tumoral Calcinosis, KL-Related Panel
By Exeter Molecular Genetics Laboratory
This panel specifically test the KL gene.
More info about this panelHyperphosphatemic familial tumoral calcinosis Comprehensive panel Panel
By Connective Tissue Gene Tests Hyperphosphatemic familial tumoral calcinosis Comprehensive panel that also includes the following genes: FGF23 GALNT3 KL
More info about this panelHyperphosphatemic familial tumoral calcinosis Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Hyperphosphatemic familial tumoral calcinosis Deletion / Duplication panel that also includes the following genes: FGF23 GALNT3 KL
More info about this panelHyperphosphatemic familial tumoral calcinosis NGS panel Panel
By Connective Tissue Gene Tests Hyperphosphatemic familial tumoral calcinosis NGS panel that also includes the following genes: FGF23 GALNT3 KL
More info about this panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelHypophosphatemic rickets Panel Panel
By CeGaT GmbH Hypophosphatemic rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 DMP1 ENPP1 FAH FGF23 KL OCRL
More info about this panelCongenital disorder of O-linked glycosylation (CDG) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of O-linked glycosylation (CDG) that also includes the following genes: XYLT1 B4GAT1 HES7 CHSY1 B3GALT6 FKRP POMGNT1 CHST3 POMT2 B3GLCT
More info about this panelKL Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KL gene.
More info about this panelHypophosphatemic Rickets Panel Panel
By Blueprint Genetics Hypophosphatemic Rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FAH FGF23
More info about this panelTumoral calcinosis Panel
By Bioarray
This panel specifically test the KL gene.
More info about this panelAbnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel
By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C
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