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.

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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

SOURCES: ORPHANET OMIM MESH


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

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

Alkaptonuria (sequence analysis of HGD gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HGD gene.

More info about this panel

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

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

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

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

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

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

Invitae Alkaptonuria Test Panel

United States.

By Invitae

This panel specifically test the HGD gene.

More info about this panel

HGD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HGD gene.

More info about this panel

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

Alkaptonuria Panel

Spain.

By Bioarray

This panel specifically test the HGD gene.

More info about this panel

ALKAPTONURIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the HGD gene.

More info about this panel

Alkaptonuria , Sequencing HGD Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HGD gene.

More info about this panel

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


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