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.

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 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

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

Search interest in KL

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.

KL gene related symptoms and diseases

Top 5 symptoms and clinical features associated to KL 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 KL gene

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, 3; HFTC3

Description

Most common symptoms of TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3

Search interest in KL

Potential gene panels for KL gene

KL. Complete sequencing Panel

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

Tumoral calcinosis, hyperphosphatemic Panel

Hypophosphatemic rickets with hyperparathyroidism Panel

Hyperphosphatemic Familial Tumoral Calcinosis, KL-Related 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 Panel Panel

Congenital disorder of O-linked glycosylation (CDG) Panel

KL Panel

Hypophosphatemic Rickets Panel Panel

Tumoral calcinosis Panel

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