Hereditary Orotic Aciduria

Description

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Orotic Aciduria

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia
  • Wide nasal bridge
  • Downslanted palpebral fissures
  • Ventricular septal defect
  • Atrial septal defect
  • Splenomegaly

And another 22 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hereditary Orotic Aciduria Is also known as oroticaciduria, oprt and odc deficiency, uridine monophosphate synthase deficiency, orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency, orotidylic decarboxylase deficiency, orotidylic pyrophosphorylase and orotidylic decarboxylase defici.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hereditary Orotic Aciduria Recommended genes panels

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

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

UMPS
Specificity
100 %
Genes
100 %
Orotic aciduria (sequence analysis of UMPS gene).

By CGC Genetics (Portugal).

UMPS
Specificity
100 %
Genes
100 %
Orotic Aciduria via UMPS Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

UMPS
Specificity
100 %
Genes
100 %
AllNeuro panel.

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

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
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 %
Orotic aciduria.

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

UMPS
Specificity
100 %
Genes
100 %
UMPS.

By Fulgent Genetics Fulgent Genetics (United States).

UMPS
Specificity
100 %
Genes
100 %

You can get up to 8 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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