PTH gene related symptoms and diseases

All the information presented here about the PTH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PTH gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Delayed eruption of teeth Uncommon - Between 30% and 50% cases
Congenital hypoparathyroidism Uncommon - Between 30% and 50% cases
Abnormality of calcium-phosphate metabolism Uncommon - Between 30% and 50% cases
Tetany Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PTH gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hyperphosphatemia
  • Hypoparathyroidism
  • Basal ganglia calcification
  • Hyperparathyroidism
  • Brittle hair
  • Abnormality of dental enamel
  • Hypocalcemia
  • Cerebral calcification

And 14 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PTH gene

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


HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH


Alternate names

HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH Is also known as hypoparathyroidism, autosomal dominant

Description

Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH ) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels.Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, {188400}) is usually a sporadic condition (Taitz et al., 1966).

Most common symptoms of HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment


More info about HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH

SOURCES: ORPHANET OMIM

FAMILIAL ISOLATED HYPOPARATHYROIDISM DUE TO IMPAIRED PTH SECRETION



More info about FAMILIAL ISOLATED HYPOPARATHYROIDISM DUE TO IMPAIRED PTH SECRETION

SOURCES: ORPHANET


Potential gene panels for PTH gene

Hypoparathyroidism Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypoparathyroidism Deletion/Duplication Panel that also includes the following genes: STX16 TBCE TBX1 CASR CHD7 FAM111A CYP24A1 AIRE GATA3 GCM2

More info about this panel

Hypoparathyroidism sequencing panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypoparathyroidism sequencing panel that also includes the following genes: STX16 TBCE TBX1 CASR CDH7 FAM111A CYP24A1 AIRE GATA3 GCM2

More info about this panel

ExomePLUS Electrolyte & Kidney Stone Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73

More info about this panel

Hypoparathyroidism (sequence analysis of PTH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PTH gene.

More info about this panel

Test for PTH-Related Familial Isolated Hypoparathyroidism Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the PTH gene.

More info about this panel

Familial Isolated Hypoparathyroidism via PTH Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PTH gene.

More info about this panel

Hypoparathyroidism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypoparathyroidism Sequencing Panel with CNV Detection that also includes the following genes: SOX3 STX16 TBCE CASR FAM111A AIRE GATA3 GCM2 GNA11 GNAS

More info about this panel

Hypoparathyroidism Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PTH gene.

More info about this panel

Single gene testing PTH Panel

Germany.

By CeGaT GmbH

This panel specifically test the PTH gene.

More info about this panel

Hypoparathyroidism Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PTH gene.

More info about this panel

Hypoparathyroidism Panel

Slovakia.

By MedGene

This panel specifically test the PTH gene.

More info about this panel

Hypoparatiroidism, Familial: PTH gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PTH gene.

More info about this panel

PTH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PTH gene.

More info about this panel

Hyperparathyroidism Panel Panel

Finland.

By Blueprint Genetics Hyperparathyroidism Panel that also includes the following genes: CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C AIRE GCM2 GNA11 AP2S1

More info about this panel

HYPOPARATHYROIDISM Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPOPARATHYROIDISM that also includes the following genes: CASR GCM2 GNA11 PTH

More info about this panel

Familial Hypoparathyroidism , Sequencing PTH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PTH gene.

More info about this panel


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