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.

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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

SOURCES: ORPHANET OMIM

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


Potential gene panels for KL gene

KL. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KL gene.

More info about this panel

Tumoral calcinosis, hyperphosphatemic (sequence analysis of KL gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KL gene.

More info about this panel

Tumoral calcinosis, hyperphosphatemic Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the KL gene.

More info about this panel

Hypophosphatemic rickets with hyperparathyroidism Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the KL gene.

More info about this panel

Hyperphosphatemic Familial Tumoral Calcinosis, KL-Related Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the KL gene.

More info about this panel

Hyperphosphatemic familial tumoral calcinosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Hyperphosphatemic familial tumoral calcinosis Comprehensive panel that also includes the following genes: FGF23 GALNT3 KL

More info about this panel

Hyperphosphatemic familial tumoral calcinosis Deletion / Duplication panel Panel

United States.

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 panel

Hyperphosphatemic familial tumoral calcinosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Hyperphosphatemic familial tumoral calcinosis NGS panel that also includes the following genes: FGF23 GALNT3 KL

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

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 panel

Hypophosphatemic rickets Panel Panel

Germany.

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 panel

Congenital disorder of O-linked glycosylation (CDG) Panel

Spain.

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 panel

KL Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KL gene.

More info about this panel

Hypophosphatemic Rickets Panel Panel

Finland.

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 panel

Tumoral calcinosis Panel

Spain.

By Bioarray

This panel specifically test the KL gene.

More info about this panel

Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel

Spain.

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

More info about this panel


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