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
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Investigator of research projectCANTOBLANCO — Dr Lourdes DESVIAT
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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
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Institution/s:
Ornithine Transcarbamylase Deficiency Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() 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 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
OTC
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
OTC
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
OTC
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
OTC
Specificity
100 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
OTC
Specificity
100 %
Genes
100 % |
You can get up to 88 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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