HMGCS2 gene related symptoms and diseases

All the information presented here about the HMGCS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to HMGCS2 gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
Hepatomegaly	Very Common - Between 80% and 100% cases
Vomiting	Very Common - Between 80% and 100% cases
Diarrhea	Very Common - Between 80% and 100% cases
Abnormality of metabolism/homeostasis	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with HMGCS2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Encephalopathy
Hypoglycemia
Elevated hepatic transaminase
Coma
Recurrent hypoglycemia
Hypoketotic hypoglycemia
Respiratory arrest
Hypoglycemic coma

Rare diseases associated to HMGCS2 gene

Here you will find a list of rare diseases related to the HMGCS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY

Alternate names

3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY Is also known as hmgcs2 deficiency, hmg-coa synthase deficiency, mitochondrial hmg-coa synthase deficiency

Description

3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.

Most common symptoms of 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY

Seizures
Hepatomegaly
Vomiting
Diarrhea
Abnormality of metabolism/homeostasis

More info about 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY

SOURCES: MESH ORPHANET OMIM

Search interest in HMGCS2

Potential gene panels for HMGCS2 gene

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

HMGCS2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to HMGCS2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to HMGCS2 gene

3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY

Alternate names

Description

Most common symptoms of 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY

Search interest in HMGCS2

Potential gene panels for HMGCS2 gene

MitoMet®Plus aCGH Analysis Panel

Fatty Acid Oxidation Deficiency Panel

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

Fatty acid metabolism/ketogenesis disorders Panel

Fatty acid metabolism/ketogenesis disorders Panel

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Panel

Hyperammonemia Sequencing Panel with CNV Detection Panel

Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection Panel

Comprehensive mitochondrial disorders panel Panel

AllNeuro panel Panel

3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Nuclear encoded Mitochondriopathies Panel Panel

Fatty Acid Oxidation Disorder Panel

HMGCS2 Panel

Invitae Fatty Acid Oxidation Defects Panel Panel

Invitae Ketogenesis Disorders Panel Panel

Invitae Treatable Neurometabolic Disorders Panel Panel

Inherited Metabolic Disorders: Sequencing Panel Panel

Nuclear-Mito NGS Panel Panel

Fatty Acid Oxidation Deficiency NGS Panel Panel

HMGCS2 Panel

Hyperammonemia and Urea Cycle Disorder Panel Panel

Comprehensive Metabolism Panel Panel

Fatty Acid Oxidation Syndrome Panel Panel

Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel

HMG-COA SYNTHETASE DEFICIENCY Panel

HMG-CoA Sinthase Deficiency , Sequencing HMGCS2 Gene Panel