LPIN1 gene related symptoms and diseases

All the information presented here about the LPIN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, 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 LPIN1 gene

Symptoms // Phenotype	% Cases
Recurrent myoglobinuria	Very Common - Between 80% and 100% cases
Ragged-red muscle fibers	Uncommon - Between 30% and 50% cases
Dark urine	Uncommon - Between 30% and 50% cases
Malignant hyperthermia	Uncommon - Between 30% and 50% cases
Myoglobinuria	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with LPIN1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Acute kidney injury
Rhabdomyolysis
Hyperkalemia
Recurrent upper respiratory tract infections
Generalized muscle weakness
Myalgia
Inability to walk
Elevated serum creatine phosphokinase

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to LPIN1 gene

Here you will find a list of rare diseases related to the LPIN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

GENETIC RECURRENT MYOGLOBINURIA

Description

Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.

Most common symptoms of GENETIC RECURRENT MYOGLOBINURIA

Ragged-red muscle fibers
Recurrent myoglobinuria
Exercise-induced myoglobinuria

More info about GENETIC RECURRENT MYOGLOBINURIA

SOURCES: MESH OMIM ORPHANET

MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

Alternate names

MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE Is also known as rhabdomyolysis, acute recurrent, myoglobinuria, familial paroxysmal paralytic

Description

Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (OMIM ), carnitine palmitoyltransferase deficiency (see {255110}), and the Creteil variety of phosphoglycerate kinase deficiency (OMIM ), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. (Ramesh and Gardner-Medwin, 1992).See {160010} for discussion of a possible autosomal dominant form of myglobinuria.Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (OMIM ), an autosomal dominant disorder.

Most common symptoms of MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

Muscle weakness
Pain
Fever
Renal insufficiency
Areflexia

More info about MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

SOURCES: OMIM MESH

Search interest in LPIN1

Potential gene panels for LPIN1 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

LPIN1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to LPIN1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to LPIN1 gene

GENETIC RECURRENT MYOGLOBINURIA

Description

Most common symptoms of GENETIC RECURRENT MYOGLOBINURIA

MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

Alternate names

Description

Most common symptoms of MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

Search interest in LPIN1

Potential gene panels for LPIN1 gene

MitoMet®Plus aCGH Analysis Panel

LPIN1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

LPIN1 Sequence Analysis Panel

LPIN1 Deletion/Duplication Analysis Panel

LPIN1 Sequence Analysis (Prenatal Diagnosis) Panel

Fatty Acid Oxidation Panel (MitomeNGS) 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

Rhabdomyolysis Panel

LPIN1. Complete sequencing Panel

Myoglobinuria acute recurrent AR (sequence analysis of LPIN1 gene) Panel

Paroxysmal Paralytic Rhabdomyolysis via LPIN1 Gene Sequencing with CNV Detection Panel

Paroxysmal Paralytic Rhabdomyolysis via the LPIN1 Gene, Exons 18-19 Deletion Test Panel

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel 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

Myoglobinuria, Acute Recurrent, Autosomal Recessive Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

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

Myoglobinuria, acute recurrent (LPIN1) Panel

Myoglobinuria acute recurrent Panel

Metabolic myopathies panel Panel

AllNeuro panel Panel

Metabolic Myopathies Panel Panel

Single gene testing LPIN1 Panel

LPIN1 - Myoglobinuria, Acute Recurrent, Autosomal Recessive Panel

Metabolic Myopathy and Rhabdomyolysis Panel

LPIN1 Panel

METABOLIC MYOPATHIES Panel

Myoglobinuria, Acute Recurrent, Autosomal Recessive: LPIN1 Full Gene Sequencing Panel

Inherited Metabolic Disorders: Sequencing Panel Panel

Fatty Acid Oxidation Deficiency NGS Panel Panel

LPIN1 Panel

Comprehensive Metabolism Panel Panel

Fatty Acid Oxidation Syndrome Panel Panel

Metabolic Myopathy and Rhabdomyolysis Panel Panel

Recurrent Acute Myoglobinuria Panel

Recurrent Myoglobinuria , Sequencing LPIN1 Gene Panel

Congenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes Panel