Ventricular septal defect, and Myalgia

Diseases related with Ventricular septal defect and Myalgia

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Myalgia that can help you solving undiagnosed cases.


Top matches:

Medium match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD


Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (OMIM ), short-chain acyl-CoA dehydrogenase deficiency (OMIM ), and very long-chain acyl-CoA dehydrogenase deficiency.VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999).Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001).

ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD Is also known as vlcad deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD

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Other less relevant matches:

Low match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12


Related symptoms:

  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Myalgia
  • Scarring


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12

Low match GLYCOGEN STORAGE DISEASE DUE TO MUSCLE AND HEART GLYCOGEN SYNTHASE DEFICIENCY


Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.

GLYCOGEN STORAGE DISEASE DUE TO MUSCLE AND HEART GLYCOGEN SYNTHASE DEFICIENCY Is also known as glycogen storage disease type 0b|gsd due to muscle and heart glycogen synthase deficiency|gsd type 0b|muscle glycogen synthase deficiency|glycogenosis due to muscle and heart glycogen synthase deficiency|muscle glycogen storage disease 0|gsd 0b|glycogenos

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cardiomyopathy
  • Arrhythmia
  • Myalgia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO MUSCLE AND HEART GLYCOGEN SYNTHASE DEFICIENCY

Low match SYMPTOMATIC FORM OF MUSCULAR DYSTROPHY OF DUCHENNE AND BECKER IN FEMALE CARRIERS


Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD: see these terms) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Muscular hypotonia
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF MUSCULAR DYSTROPHY OF DUCHENNE AND BECKER IN FEMALE CARRIERS

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2F


Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2F Is also known as delta-sarcoglycanopathy|limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency|lgmd2f|muscular dystrophy, limb-girdle, type 2f

Related symptoms:

  • Respiratory insufficiency
  • Elevated serum creatine phosphokinase
  • Difficulty walking
  • Proximal muscle weakness
  • Myalgia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2F

Low match INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME

Low match MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX


X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Myalgia

Symptoms // Phenotype % cases
Muscle weakness Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ventricular septal defect and Myalgia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ventricular hypertrophy Exercise intolerance Left ventricular hypertrophy Seizures Behavioral abnormality Cardiomyopathy Pain Muscle cramps Sudden cardiac death Dilated cardiomyopathy Gowers sign Arrhythmia Respiratory insufficiency Intellectual disability Muscular hypotonia Cataract Scoliosis

Rare Symptoms - Less than 30% cases


Cerebral atrophy Muscular dystrophy Anxiety Telecanthus Limb-girdle muscle weakness Syncope Generalized muscle weakness Lethargy Prominent nasal bridge Limb-girdle muscular dystrophy Mitral regurgitation Chronic obstructive pulmonary disease Arachnodactyly Abnormal aortic valve morphology Bulbous nose Vomiting Proximal muscle weakness Difficulty walking Delayed gross motor development Strabismus Cardiac arrest Falls Lower limb muscle weakness Generalized hypotonia Purpura Abnormal facial shape Ventricular tachycardia Arthritis Hypertelorism Optic atrophy Motor delay Downslanted palpebral fissures Arthralgia Talipes equinovarus Mitral valve prolapse Short stature Atrial septal defect Hearing impairment Reduced ejection fraction Myocardial fibrosis Long philtrum Bundle branch block Progressive proximal muscle weakness Loss of consciousness High palate Asymmetric septal hypertrophy Congestive heart failure Hypothyroidism Narrow mouth Autism Depressivity Stroke Constipation Inguinal hernia Scarring Midface retrusion Hyposthenuria Decreased lacrimation Shortened PR interval Shortened QT interval Concentric hypertrophic cardiomyopathy Coronary artery stenosis Angiokeratoma corporis diffusum Peripheral arterial stenosis Mucosal telangiectasiae Tubular atrophy Abnormal glomerular filtration rate Tubulointerstitial nephritis Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Elevated serum creatinine Acroparesthesia Unexplained fevers Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Heavy proteinuria Corneal crystals Impaired temperature sensation Heat intolerance Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis Supraventricular tachycardia T-wave inversion Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology High-frequency hearing impairment Abnormality of the renal tubule Abnormal myocardium morphology Restrictive cardiomyopathy Abnormality of the nose Abnormality of femur morphology Chronic fatigue Sinus bradycardia Achalasia Angina pectoris Clubbing of fingers Abnormal thrombosis Abnormal cornea morphology Abnormality of the gastrointestinal tract Limb pain Obstructive lung disease Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Retinal vascular tortuosity Dysesthesia Vascular skin abnormality Oligospermia Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Microalbuminuria Large earlobe Conjunctival telangiectasia Supraventricular arrhythmia Primary hypothyroidism Hyperammonemia Cornea verticillata Facial palsy Proximal upper limb amyotrophy Generalized limb muscle atrophy Proximal lower limb amyotrophy Shuffling gait Proximal amyotrophy Calf muscle hypertrophy Toe walking Scapular winging Frequent falls Abnormal muscle fiber dystrophin expression Myopia Pelvic girdle muscle weakness Abnormal left ventricle morphology Shoulder girdle muscle weakness Gait disturbance Decreased muscle glycogen content Left atrial enlargement Type 2 muscle fiber atrophy Prolonged QT interval Ragged-red muscle fibers Absent muscle fiber delta sarcoglycan Chorea Paroxysmal atrial fibrillation Distal muscle weakness Autophagic vacuoles Proximal muscle weakness in lower limbs Hypoventilation Difficulty running Difficulty climbing stairs Right bundle branch block Myotonia Progressive muscle weakness Limb muscle weakness Elevated hepatic transaminase Truncal ataxia Neonatal hypotonia Kyphoscoliosis Skeletal muscle atrophy Feeding difficulties Flexion contracture Exercise-induced muscle fatigue Right ventricular dilatation Restrictive ventilatory defect Hyperkinesis Infantile muscular hypotonia Generalized tonic-clonic seizures Myofibrillar myopathy Hepatomegaly Decreased liver function Hypoketotic hypoglycemia Cardiorespiratory arrest Myoglobinuria Drowsiness Rhabdomyolysis Pericardial effusion Renal tubular dysfunction Tachypnea Muscle stiffness Cardiomegaly Decreased plasma carnitine Coma Metabolic acidosis Hepatic steatosis Autistic behavior Irritability Hypoglycemia Hepatosplenomegaly Acidosis Hyperactivity Encephalopathy Exercise-induced myalgia Respiratory arrest Hypoplasia of the musculature Bruising susceptibility Facial hypotonia Fragile skin Bilateral talipes equinovarus Patent foramen ovale Hyperextensible skin Adducted thumb Joint dislocation Dental crowding Blue sclerae Joint hypermobility Dicarboxylic aciduria Talipes Protruding ear Camptodactyly Brachycephaly Hernia Frontal bossing Exercise-induced rhabdomyolysis Hepatocellular necrosis Exercise-induced myoglobinuria Nonketotic hypoglycemia Edema of the lower limbs Clubbing Transient ischemic attack Bowel incontinence Multiple renal cysts Patellar dislocation Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Foot polydactyly Hyperthyroidism Dysphasia Meningocele Acne Chronic otitis media Overfolded helix Abnormality of the thorax Hand polydactyly Cholelithiasis Polycystic kidney dysplasia Nasal speech Laryngomalacia Schizophrenia Abnormality of the skull Truncus arteriosus Abnormality of dental enamel Arrhinencephaly Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Platybasia Abnormal eyelid morphology Small earlobe Abnormality of the pharynx Abnormal thrombocyte morphology Seborrheic dermatitis Hypoplasia of the thymus Tetany Corneal neovascularization Abnormality of the uterus Atelectasis Varicose veins Hypopigmented skin patches Hypocalcemia Cognitive impairment Short neck Thrombocytopenia Abnormality of cardiovascular system morphology Microphthalmia Immunodeficiency Malar flattening Splenomegaly Intellectual disability, mild Abnormality of the dentition Hydrocephalus Hypospadias Intrauterine growth retardation Wide nasal bridge Epicanthus Low-set ears Ptosis Cryptorchidism Cleft palate Micrognathia Failure to thrive Microcephaly Obesity Patent ductus arteriosus Spina bifida Anal atresia Aganglionic megacolon Choanal atresia Renal hypoplasia Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Intestinal malrotation Vesicoureteral reflux Asthma Long face Joint hyperflexibility Upslanted palpebral fissure Carious teeth Short philtrum Attention deficit hyperactivity disorder Autoimmunity Feeding difficulties in infancy Conductive hearing impairment Umbilical hernia Gastroesophageal reflux Polyhydramnios Glaucoma Sensorineural hearing impairment Anemia Xerostomia Ischemic stroke Hemiplegia Abnormality of the hand Prominent supraorbital ridges Chronic kidney disease Atrioventricular block Easy fatigability Tinnitus Ventricular arrhythmia Reduced bone mineral density Corneal dystrophy Polydipsia Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Hyperlipidemia Aminoaciduria Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Bradycardia Lymphedema Glomerulosclerosis Personality changes Anorexia Orthostatic hypotension Abnormal EKG Abnormality of lipid metabolism Aortic root aneurysm Wheezing Renal tubular acidosis Glycosuria Abnormal heart valve morphology Glomerulopathy Telangiectasia of the skin Celiac disease Progressive sensorineural hearing impairment Heart murmur Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Impotence Emphysema Anhidrosis Polyuria Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Hypohidrosis Subcutaneous nodule Hypertension Hyperkeratosis Cough Skin rash Developmental regression Abnormality of the kidney Abnormality of the nervous system Proteinuria Carcinoma Coarse facial features Mandibular prognathia Dyspnea Abdominal pain Papule Hyperhidrosis Posteriorly rotated ears Dilatation Headache Renal insufficiency Diarrhea Edema Fatigue Fever Peripheral neuropathy Corneal opacity Pruritus Abnormal lung morphology Nephropathy Palpitations Myocardial infarction Atrial fibrillation Thick lower lip vermilion Nephrotic syndrome Abnormality of the cardiovascular system Hypotension Urinary incontinence Chest pain Abdominal distention Hematuria Abnormality of the cerebral white matter Thick vermilion border Thick eyebrow Tachycardia Nausea Stage 5 chronic kidney disease Vertigo Paresthesia Delayed puberty Nausea and vomiting Malabsorption Limited extraocular movements



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Frontal bossing, related diseases and genetic alterations

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