HGD gene related symptoms and diseases
All the information presented here about the HGD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HGD gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pain | Very Common - Between 80% and 100% cases |
| Aortic valve calcification | Very Common - Between 80% and 100% cases |
| Abnormal joint morphology | Very Common - Between 80% and 100% cases |
| Arthropathy | Very Common - Between 80% and 100% cases |
| Irregular hyperpigmentation | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with HGD gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Joint swelling
- Ankylosis
- Hearing abnormality
- Abnormality of the nose
- Low back pain
- Chronic pain
- Dark urine
- Mitral valve calcification
And 39 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HGD gene
Here you will find a list of rare diseases related to the HGD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ALKAPTONURIA
Alternate names
ALKAPTONURIA Is also known as homogentisic acid oxidase deficiency, hereditary ochronosis
Description
Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).
Most common symptoms of ALKAPTONURIA
- Pain
- Cognitive impairment
- Hypertension
- Kyphosis
- Abnormality of metabolism/homeostasis
More info about ALKAPTONURIA
Search interest in HGD
Potential gene panels for HGD gene
HGD. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HGD gene.
More info about this panel Spain.
HGD. Detection of the mutations c.688C>T, c.899T>G, c.174delA, c.16-1G>A, c.342 1G>A and c.140C>T Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HGD gene.
More info about this panel Spain.
Alkaptonuria (sequence analysis of HGD gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HGD gene.
More info about this panel Portugal.
Linkage analysis for Alcaptonuria Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the HGD gene.
More info about this panel India.
Alkaptonuria via HGD Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the HGD gene.
More info about this panel United States.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Invitae Alkaptonuria Test Panel
United States.
By Invitae
This panel specifically test the HGD gene.
More info about this panel United States.
HGD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HGD gene.
More info about this panel United States.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Alkaptonuria Panel
Spain.
By Bioarray
This panel specifically test the HGD gene.
More info about this panel Spain.
ALKAPTONURIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the HGD gene.
More info about this panel Spain.
Alkaptonuria , Sequencing HGD Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HGD gene.
More info about this panel Spain.
planTrue Extended Panel
United States.
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel United States.
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