HLCS gene related symptoms and diseases

All the information presented here about the HLCS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HLCS gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Nausea and vomiting Very Common - Between 80% and 100% cases
Congenital lactic acidosis Very Common - Between 80% and 100% cases
Desquamation of skin soon after birth Very Common - Between 80% and 100% cases
Keratoconjunctivitis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with HLCS gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Organic aciduria
  • Hyperventilation
  • Hyperammonemia
  • Tachypnea
  • Anorexia
  • Inflammatory abnormality of the skin
  • Eczema
  • Aciduria

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HLCS gene

Here you will find a list of rare diseases related to the HLCS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HOLOCARBOXYLASE SYNTHETASE DEFICIENCY


Alternate names

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form, hlcs deficiency, neonatal multiple carboxylase deficiency, multiple carboxylase deficiency, early onset, early-onset multiple carboxylase deficiency

Description

Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

Most common symptoms of HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

SOURCES: ORPHANET OMIM MESH


Potential gene panels for HLCS gene

HLCS Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the HLCS gene.

More info about this panel

HLCS Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the HLCS gene.

More info about this panel

HLCS Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the HLCS gene.

More info about this panel

HLCS Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the HLCS gene.

More info about this panel

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Holocarboxylase Synthetase Deficiency - HLCS Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the HLCS gene.

More info about this panel

Holocarboxylase Synthetase Deficiency - HLCS Del/Dup Analysis Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the HLCS gene.

More info about this panel

Comprehensive Mitochondrial Metabolic Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Holocarboxylase Synthetase Panel

New Zealand.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital

This panel specifically test the HLCS gene.

More info about this panel

HLCS Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the HLCS gene.

More info about this panel

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB

More info about this panel

Holocarboxylase synthetase deficiency (sequence analysis of HLCS gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HLCS gene.

More info about this panel

Hyperammonemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hyperammonemia Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SLC25A20 NAGS MMAA MMAB CPT1A CPT2

More info about this panel

Organic Aciduria Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Organic Aciduria Sequencing Panel with CNV Detection that also includes the following genes: SLC25A1 CD320 MCEE MMAA MMAB L2HGDH MMACHC MMADHC DBT ACSF3

More info about this panel

Holocarboxylase Synthetase Deficiency via HLCS Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the HLCS gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

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

Holocarboxylase synthetase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HLCS gene.

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Estonia.

By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1

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 Multiple Carboxylase Deficiency Panel Panel

United States.

By Invitae Invitae Multiple Carboxylase Deficiency Panel that also includes the following genes: BTD HLCS

More info about this panel

Invitae Organic Acidemias Panel Panel

United States.

By Invitae Invitae Organic Acidemias Panel that also includes the following genes: SLC25A1 BTD SUCLA2 SUCLG1 TAZ MCEE MMAA MMAB L2HGDH SERAC1

More info about this panel

Invitae Elevated C5-OH Panel Panel

United States.

By Invitae Invitae Elevated C5-OH Panel that also includes the following genes: BTD TAZ SERAC1 DNAJC19 HSD17B10 HLCS HMGCL MCCC1 MCCC2 OPA3

More info about this panel

Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel

United States.

By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ

More info about this panel

Invitae Elevated C3 Panel Panel

United States.

By Invitae Invitae Elevated C3 Panel that also includes the following genes: BTD MMAA MMAB MMACHC MMADHC HLCS MMUT PCCA PCCB

More info about this panel

Invitae Treatable Neurometabolic Disorders Panel Panel

United States.

By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2

More info about this panel

Holocarboxylase Synthetase Deficiency: HLCS Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the HLCS gene.

More info about this panel

Holocarboxylase Synthetase Deficiency: HLCS Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the HLCS gene.

More info about this panel

Inherited Metabolic Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1

More info about this panel

Holocarboxylase Synthetase Deficiency (HLCS) Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the HLCS gene.

More info about this panel

Inheritest NGS, Comprehensive Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

HLCS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HLCS gene.

More info about this panel

Hyperammonemia and Urea Cycle Disorder Panel Panel

Finland.

By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS

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

Baby Genes Targeted Panel Panel

United States.

By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the HLCS gene.

More info about this panel

MULTIPLE CARBOXYLASE DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL MULTIPLE CARBOXYLASE DEFICIENCY that also includes the following genes: BTD HLCS

More info about this panel

Holocarboxylase Synthetase Deficiency , Sequencing HLCS Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HLCS gene.

More info about this panel

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2

More info about this panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

Holocarboxylase synthetase deficiency: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the HLCS gene.

More info about this panel


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