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.
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
FAMILIAL ISOLATED HYPOPARATHYROIDISM DUE TO IMPAIRED PTH SECRETION
Search interest in PTH
Potential gene panels for PTH gene
Hypoparathyroidism Deletion/Duplication Panel Panel
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 panelHypoparathyroidism sequencing panel Panel
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 panelExomePLUS Electrolyte & Kidney Stone Panel
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 panelHypoparathyroidism (sequence analysis of PTH gene) Panel
By CGC Genetics
This panel specifically test the PTH gene.
More info about this panelTest for PTH-Related Familial Isolated Hypoparathyroidism Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the PTH gene.
More info about this panelFamilial Isolated Hypoparathyroidism via PTH Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the PTH gene.
More info about this panelHypoparathyroidism Sequencing Panel with CNV Detection Panel
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 panelHypoparathyroidism Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PTH gene.
More info about this panelSingle gene testing PTH Panel
By CeGaT GmbH
This panel specifically test the PTH gene.
More info about this panelHypoparathyroidism Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PTH gene.
More info about this panelHypoparathyroidism Panel
By MedGene
This panel specifically test the PTH gene.
More info about this panelHypoparatiroidism, Familial: PTH gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PTH gene.
More info about this panelPTH Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PTH gene.
More info about this panelHyperparathyroidism Panel Panel
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 panelHYPOPARATHYROIDISM Panel
By Laboratorio de Genetica Clinica SL HYPOPARATHYROIDISM that also includes the following genes: CASR GCM2 GNA11 PTH
More info about this panelFamilial Hypoparathyroidism , Sequencing PTH Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PTH gene.
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