CPT2 gene related symptoms and diseases

All the information presented here about the CPT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, 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 CPT2 gene

Symptoms // Phenotype	% Cases
Coma	Common - Between 50% and 80% cases
Fever	Common - Between 50% and 80% cases
Seizures	Common - Between 50% and 80% cases
Arrhythmia	Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CPT2 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Cardiomegaly
Dicarboxylic aciduria
Hypoketotic hypoglycemia
Hyperammonemia
Hepatomegaly
Respiratory distress
Cardiomyopathy
Encephalopathy

And 108 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CPT2 gene

Here you will find a list of rare diseases related to the CPT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, MYOPATHIC FORM

Alternate names

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, MYOPATHIC FORM Is also known as cpt2, adult-onset form, cpt2 deficiency, late-onset, carnitine palmitoyl transferase deficiency type 2, myopathic form, cptii, myopathic form, carnitine palmitoyl transferase ii deficiency, adult-onset form, carnitine palmitoyl transferase deficiency type 2, a

Description

The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).

Most common symptoms of CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, MYOPATHIC FORM

Muscle weakness
Pain
Spasticity
Visual impairment
Fever

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, MYOPATHIC FORM

SOURCES: OMIM MESH ORPHANET

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

Alternate names

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM Is also known as cpt2, severe infantile form, cptii, severe infantile form, carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia, carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form, cpt2, hepatocardiomuscular form, cptii, hepatoc

Description

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

Most common symptoms of CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

Seizures
Hepatomegaly
Fever
Respiratory distress
Cardiomyopathy

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

SOURCES: OMIM MESH ORPHANET

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Alternate names

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form, carnitine palmitoyltransferase ii deficiency, neonatal, cpt2 deficiency, lethal neonatal, carnitine palmitoyl transferase ii deficiency, lethal systemic form, carnitine palmitoyltransfer

Description

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

Most common symptoms of CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Seizures
Generalized hypotonia
Microcephaly
Muscular hypotonia
Cataract

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

SOURCES: MESH OMIM ORPHANET

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4

Description

Acute encephalopathy is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder (summary by Chen et al., 2005; Shinohara et al., 2011).For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see {610551}.

Most common symptoms of ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4

Seizures
Fever
Edema
Encephalopathy
Coma

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4

SOURCES: OMIM

ACUTE NECROTIZING ENCEPHALOPATHY OF CHILDHOOD

Alternate names

ACUTE NECROTIZING ENCEPHALOPATHY OF CHILDHOOD Is also known as anec, isolated acute necrotizing encephalopathy, isolated ane

Description

Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.

More info about ACUTE NECROTIZING ENCEPHALOPATHY OF CHILDHOOD

SOURCES: ORPHANET

Search interest in CPT2

Potential gene panels for CPT2 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

CPT2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CPT2 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to CPT2 gene

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, MYOPATHIC FORM

Alternate names

Description

Most common symptoms of CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, MYOPATHIC FORM

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

Alternate names

Description

Most common symptoms of CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Alternate names

Description

Most common symptoms of CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4

Description

Most common symptoms of ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4

ACUTE NECROTIZING ENCEPHALOPATHY OF CHILDHOOD

Alternate names

Description

Search interest in CPT2

Potential gene panels for CPT2 gene

MitoMet®Plus aCGH Analysis Panel

CPT2 Deletion/Duplication Analysis Panel

CPT2 Sequence Analysis Panel

CPT2 Sequence Analysis (Prenatal Diagnosis) Panel

CPT2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

Fatty Acid Oxidation Panel (MitomeNGS) Panel

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Carnitine Palmitoyltransferase II Deficiency Panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

Comprehensive Mitochondrial Metabolic Panel Panel

Fatty Acid Oxidation Deficiency Panel

CPT2 Sequencing Panel

MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS) Panel

MetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel Panel

CPT2 Deleton/duplication analysis Panel

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

CPT2 Gene Sequencing Panel

Carnitine palmitoyltransferase II deficiency Panel

Carnitine Palmitoyltransferase II Deficiency Panel

Fatty acid metabolism/ketogenesis disorders Panel

Fatty acid metabolism/ketogenesis disorders Panel

Rhabdomyolysis Panel

CPT2. Complete sequencing Panel

CPT2. Detection of the mutations p.Ser113Leu, p.Lys414Thrfs*7 , p.Pro50His, p.Arg503Cys, p.Gly549Asp and p.Met214Thr by sequencing Panel

Carnitine palmitoyltransferase II deficiency (sequence analysis of CPT2 gene) Panel

Epileptic encephalopathy (NGS panel for 67 genes) Panel

Carnitine deficiency (NGS panel for 6 genes) Panel

CPT2 Sequence Analysis Panel

Carnitine Palmitoyltransferase II Deficiency Panel

Hyperammonemia Sequencing Panel with CNV Detection Panel

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel

Carnitine Palmitoyltransferase II Deficiency via CPT2 Gene Sequencing with CNV Detection Panel

Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection Panel

Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis Panel

Muscle Pain - fluctuating CK - Rhabdomyolysis Panel

Newborn: Cardiomyopathy as presenting sign Panel

Carnitine Palmitoyltransferase II Deficiency Panel

Heart Diseases - panels Panel

Neurogenetic Disorders - panels Panel

Mitochondrial Diseases Panel

Mitochondrial Myopathy Panel

Mitochondrial Cardiomyopathy Panel

Episodic Ataxia and Phenocopies Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Infancy: Cardiomyopathies Panel

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Metabolic disease with epilepsy panel Panel

Comprehensive mitochondrial disorders panel Panel

Metabolic myopathies panel Panel