RYR1 gene related symptoms and diseases

All the information presented here about the RYR1 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 RYR1 gene

Symptoms // Phenotype	% Cases
Malignant hyperthermia	Common - Between 50% and 80% cases
Myopathy	Common - Between 50% and 80% cases
Type 1 muscle fiber predominance	Common - Between 50% and 80% cases
Motor delay	Common - Between 50% and 80% cases
Generalized hypotonia	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with RYR1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Scoliosis
Proximal muscle weakness
Flexion contracture
Facial palsy
Centrally nucleated skeletal muscle fibers
Ptosis
Muscle weakness
Myopathic facies

And 257 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RYR1 gene

Here you will find a list of rare diseases related to the RYR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

KING-DENBOROUGH SYNDROME

Alternate names

KING-DENBOROUGH SYNDROME Is also known as koussef-nichols syndrome

Description

King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.

More info about KING-DENBOROUGH SYNDROME

SOURCES: ORPHANET

CENTRAL CORE DISEASE

Description

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.

Most common symptoms of CENTRAL CORE DISEASE

Muscular hypotonia
Motor delay
Talipes equinovarus
Myopathy
Elevated serum creatine phosphokinase

More info about CENTRAL CORE DISEASE

SOURCES: ORPHANET

MALIGNANT HYPERTHERMIA OF ANESTHESIA

Alternate names

MALIGNANT HYPERTHERMIA OF ANESTHESIA Is also known as hyperthermia of anesthesia

Description

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.

Most common symptoms of MALIGNANT HYPERTHERMIA OF ANESTHESIA

Fever
Metabolic acidosis
Muscle stiffness
Ventricular tachycardia
Tachypnea

More info about MALIGNANT HYPERTHERMIA OF ANESTHESIA

SOURCES: ORPHANET

MODERATE MULTIMINICORE DISEASE WITH HAND INVOLVEMENT

Most common symptoms of MODERATE MULTIMINICORE DISEASE WITH HAND INVOLVEMENT

Talipes equinovarus
Neonatal hypotonia
Facial palsy
Joint hyperflexibility
Generalized muscle weakness

More info about MODERATE MULTIMINICORE DISEASE WITH HAND INVOLVEMENT

SOURCES: ORPHANET

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Alternate names

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs, hyperthermia of anesthesia, mh, hyperpyrexia, malignant

Description

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

Most common symptoms of MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Intellectual disability
Seizures
Short stature
Generalized hypotonia
Scoliosis

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

SOURCES: OMIM

CENTRAL CORE DISEASE OF MUSCLE; CCD

Alternate names

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Description

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

Most common symptoms of CENTRAL CORE DISEASE OF MUSCLE; CCD

Seizures
Global developmental delay
Generalized hypotonia
Scoliosis
Muscle weakness

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

SOURCES: OMIM

LETHAL MULTIPLE PTERYGIUM SYNDROME

Alternate names

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps, pterygium syndrome, multiple, lethal type, autosomal recessive lethal multiple pterygium syndrome

Description

Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

Most common symptoms of LETHAL MULTIPLE PTERYGIUM SYNDROME

Microcephaly
Growth delay
Hypertelorism
Micrognathia
Abnormal facial shape

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

SOURCES: OMIM ORPHANET

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Alternate names

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy, multicore myopathy, multiminicore disease with external ophthalmoplegia, multiminicore myopathy multicore myopathy with external ophthalmoplegia

Description

Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

Most common symptoms of CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Generalized hypotonia
Scoliosis
Growth delay
Hypertelorism
Muscle weakness

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

SOURCES: ORPHANET OMIM

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Alternate names

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive, myotubular myopathy, autosomal recessive, ar-cnm

Description

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

Most common symptoms of AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Intellectual disability
Generalized hypotonia
Scoliosis
Muscle weakness
Abnormal facial shape

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

SOURCES: ORPHANET OMIM MESH

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

Alternate names

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant, ad-cnm, myopathy, centronuclear, autosomal dominant

Description

Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

Most common symptoms of AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

Global developmental delay
Generalized hypotonia
Scoliosis
Muscle weakness
Pain

More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

SOURCES: OMIM ORPHANET

BENIGN SAMARITAN CONGENITAL MYOPATHY

Description

Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.

Most common symptoms of BENIGN SAMARITAN CONGENITAL MYOPATHY

Generalized hypotonia
Hypertelorism
Motor delay
Epicanthus
Wide nasal bridge

More info about BENIGN SAMARITAN CONGENITAL MYOPATHY

SOURCES: ORPHANET

CONGENITAL MYOPATHY WITH MYASTHENIC-LIKE ONSET

Description

Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.

Most common symptoms of CONGENITAL MYOPATHY WITH MYASTHENIC-LIKE ONSET

Scoliosis
Failure to thrive
Ptosis
Feeding difficulties
Motor delay

More info about CONGENITAL MYOPATHY WITH MYASTHENIC-LIKE ONSET

SOURCES: ORPHANET

EXERCISE-INDUCED MALIGNANT HYPERTHERMIA

Alternate names

EXERCISE-INDUCED MALIGNANT HYPERTHERMIA Is also known as exertional heat stroke

More info about EXERCISE-INDUCED MALIGNANT HYPERTHERMIA

SOURCES: ORPHANET

Search interest in RYR1

Potential gene panels for RYR1 gene

Malignant Hyperthermia Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Malignant Hyperthermia Advanced Sequencing Evaluation that also includes the following genes: RYR1 CACNA1S

RYR1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to RYR1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to RYR1 gene

KING-DENBOROUGH SYNDROME

Alternate names

Description

CENTRAL CORE DISEASE

Description

Most common symptoms of CENTRAL CORE DISEASE

MALIGNANT HYPERTHERMIA OF ANESTHESIA

Alternate names

Description

Most common symptoms of MALIGNANT HYPERTHERMIA OF ANESTHESIA

MODERATE MULTIMINICORE DISEASE WITH HAND INVOLVEMENT

Most common symptoms of MODERATE MULTIMINICORE DISEASE WITH HAND INVOLVEMENT

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Alternate names

Description

Most common symptoms of MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

CENTRAL CORE DISEASE OF MUSCLE; CCD

Alternate names

Description

Most common symptoms of CENTRAL CORE DISEASE OF MUSCLE; CCD

LETHAL MULTIPLE PTERYGIUM SYNDROME

Alternate names

Description

Most common symptoms of LETHAL MULTIPLE PTERYGIUM SYNDROME

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Alternate names

Description

Most common symptoms of CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

BENIGN SAMARITAN CONGENITAL MYOPATHY

Description

Most common symptoms of BENIGN SAMARITAN CONGENITAL MYOPATHY

CONGENITAL MYOPATHY WITH MYASTHENIC-LIKE ONSET

Description

Most common symptoms of CONGENITAL MYOPATHY WITH MYASTHENIC-LIKE ONSET

EXERCISE-INDUCED MALIGNANT HYPERTHERMIA

Alternate names

Search interest in RYR1

Potential gene panels for RYR1 gene

Malignant Hyperthermia Advanced Sequencing Evaluation Panel

Congenital Myopathy Advanced Sequencing Evaluation Panel

Neuromuscular Disorders Panel Panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

Comprehensive Neuromuscular Panel Panel

Congenital Muscular Dystrophy Panel

Congenital Muscular Myopathy Panel

RYR1 sequencing Panel

Neuromuscular Disorders Sequencing Panel Panel

Congenital Muscular Dystrophy Deletion/Duplication Analysis Panel

Congenital Muscular Dystrophy Sequencing Panel Panel

Congenital Myopathy Sequencing Panel Panel

Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis Panel

Congenital Myopathy with Prominent Contractures Sequencing Panel Panel

Congenital Myopathy Deletion/Duplication Panel Panel

Centronuclear Myopathy Sequencing Panel Panel

Congenital Myopathy with Fiber-Type Disproportion Sequencing Panel Panel

Multiminicore Disease Sequencing Panel Panel

Malignant hyperthermia susceptibility 1 Panel

Central core disease Panel

Rhabdomyolysis Panel

RYR1. Complete sequencing Panel

ACTA1, MYH7, RYR1, SEPN1, TPM3 . NextGeneDx.Complete sequencing by NGS Panel

RYR1. NextGeneDx.Complete sequencing by NGS Panel

RYR1. Sequencing of the exons 2, 5, 9, 11, 12, 14, 17, 39, 40, 44, 45, 46, 71, 100, 101 and 102 Panel

RYR1. NextGeneDx.Sequencing by NGS of the exons 1-17, 39-48 and 90-104 Panel

SEPN1, RYR1. NextGeneDx.Complete sequencing by NGS Panel

RYR1. Sequencing of the exons 1-17, 39-48 and 90-104 Panel