Ornithine Transcarbamylase Deficiency

Description

Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.

Clinical Features

Phenotypes and symptoms related to Ornithine Transcarbamylase Deficiency

  • Splenomegaly
  • Hypoglycemia
  • Hepatic failure
  • Aminoaciduria
  • Hyperammonemia
  • Pyloric stenosis

Incidence and onset information

— Based on the latest data available ORNITHINE TRANSCARBAMYLASE DEFICIENCY have a estimated prevalence of 1.4 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Ornithine Transcarbamylase Deficiency Is also known as oct deficiency, ornithine carbamoyltransferase deficiency, otc deficiency.

Researches and researchers

Doctors, researchs, and experts related to Ornithine Transcarbamylase Deficiency extracted from public data.

Ornithine Transcarbamylase Deficiency Experts map



Current Researchs and researchers

  • CANTOBLANCO — Dr Lourdes DESVIAT

    Investigator of research project

    • Institution/s:
      — Universidad Autónoma de Madrid. Facultad de Ciencias
      — CBMSO - Centro de Biología Molecular Severo Ochoa
    • Research area/topic::

      Genome and transcriptome analysis to identify splicing defects and in vivo evaluation of antisense therapy



Mendelian

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Ornithine Transcarbamylase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
OTC Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

OTC
Specificity
100 %
Genes
100 %
OTC Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

OTC
Specificity
100 %
Genes
100 %
OTC Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

OTC
Specificity
100 %
Genes
100 %
OTC Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

OTC
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
Ornithine transcarbamylase deficiency.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

OTC
Specificity
100 %
Genes
100 %

We have 88 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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