Alkaptonuria

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Alkaptonuria

  • Pain
  • Cognitive impairment
  • Hypertension
  • Kyphosis
  • Abnormality of metabolism/homeostasis
  • Arthralgia
  • Arthritis
  • Abnormality of the eye
  • Joint stiffness
  • Abnormality of skin pigmentation

And another 42 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Alkaptonuria Is also known as homogentisic acid oxidase deficiency, hereditary ochronosis.

Researches and researchers

Doctors, researchs, and experts related to Alkaptonuria extracted from public data.

Alkaptonuria Experts map



Current Researchs and researchers

  • SIENA — Pr Annalisa SANTUCCI

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Dipartimento di Biotecnologie, Chimica e Farmacia, Universit√† degli Studi di Siena - Presidio San Miniato
    • Research area/topic::

      Preclinical study of therapeutic agents for the treatment of ochronotic arthropathy



Mendelian

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Alkaptonuria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HGD. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

HGD
Specificity
100 %
Genes
100 %
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.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

HGD
Specificity
100 %
Genes
100 %
Alkaptonuria (sequence analysis of HGD gene).

By CGC Genetics (Portugal).

HGD
Specificity
100 %
Genes
100 %
Linkage analysis for Alcaptonuria.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital (India).

HGD
Specificity
100 %
Genes
100 %
Alkaptonuria via HGD Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

HGD
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
Family Prep Screen.

By Counsyl (United States).

RMRP, BCS1L, RS1, SACS, BLM, SGCA, SGCB, SLC12A6, SLC17A5, SLC22A5, SLC26A2, SMN1, SMPD1, BTD, TH, TTPA, CLRN1, MCOLN1, NPHS2, PCDH15 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %

We have 8 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LEUKODYSTROPHY, HYPOMYELINATING, 13; HLD13 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4

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