Fever, and Hypertrophic cardiomyopathy

Diseases related with Fever and Hypertrophic cardiomyopathy

In the following list you will find some of the most common rare diseases related to Fever and Hypertrophic cardiomyopathy that can help you solving undiagnosed cases.


Top matches:

Medium match FAMILIAL BICUSPID AORTIC VALVE


Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

FAMILIAL BICUSPID AORTIC VALVE Is also known as aortic valve, calcification of|aortic stenosis, calcific|aortic valve, bicuspid|familial bav|bav|bicuspid aortic valve|aortic valve disease

Related symptoms:

  • Hypertension
  • Fever
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL BICUSPID AORTIC VALVE

Medium match CENTRAL CORE DISEASE OF MUSCLE; CCD


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).

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Medium match BETA-THALASSEMIA


Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975).Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999).The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-THALASSEMIA

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Other less relevant matches:

Medium match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Medium match SYSTEMIC PRIMARY CARNITINE DEFICIENCY


Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

Medium match COG7-CDG


COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

Medium match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Medium match GLYCOGEN STORAGE DISEASE II; GSD2


Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Medium match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Medium match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Top 5 symptoms//phenotypes associated to Fever and Hypertrophic cardiomyopathy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Fever and Hypertrophic cardiomyopathy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Fatigue

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Congestive heart failure Respiratory insufficiency Global developmental delay Anemia Splenomegaly Thrombocytopenia Elevated hepatic transaminase Areflexia Jaundice Pain Muscular hypotonia Dilatation Myopathy Cognitive impairment Cardiomegaly Abnormal facial shape Abnormality of the liver Ventricular hypertrophy Proximal muscle weakness Cataract Left ventricular hypertrophy Micrognathia Microcephaly Intellectual disability Arrhythmia Vomiting Generalized muscle weakness Hypoglycemia Diarrhea Myalgia Headache Elevated serum creatine phosphokinase Abnormal heart morphology Hepatosplenomegaly

Rare Symptoms - Less than 30% cases


Delayed gross motor development Hyperammonemia Anorexia Dilated cardiomyopathy Clumsiness Encephalopathy Lethargy Abdominal pain Coma Hepatic steatosis Respiratory tract infection Easy fatigability Hypertension Ketonuria Gastroesophageal reflux Ptosis Gait disturbance Dysphagia Respiratory failure Dyspnea Acidosis Difficulty walking Decreased liver function Limb muscle weakness Scapular winging Edema Depressed nasal bridge Progressive proximal muscle weakness Strabismus Spastic tetraparesis Pachygyria Excessive daytime somnolence Hypertelorism Hypoketotic hypoglycemia Reye syndrome-like episodes Short neck Behavioral abnormality Abnormality of the pinna Weight loss Nystagmus Tetraparesis Spasticity Low-set ears High palate Congenital cataract Tetraplegia Gliosis Arthralgia Recurrent respiratory infections Bicuspid aortic valve Skeletal muscle atrophy Hypoplastic aortic arch Skin ulcer Muscular dystrophy Malignant hyperthermia Scoliosis Muscle cramps Aortic regurgitation Motor delay Arthrogryposis multiplex congenita Irritability Kyphoscoliosis Osteopenia Polyhydramnios Skeletal myopathy Coarctation of aorta Atrial septal defect Ventricular septal defect Abnormality of the skeletal system Schwannoma Stridor Ventricular fibrillation Hemiplegia Back pain Primary amenorrhea Slurred speech Multiple lentigines Asymmetry of the thorax Polycystic kidney dysplasia Poor head control Mutism Optic disc hypoplasia Restrictive ventilatory defect Myoglobinuria Difficulty climbing stairs Medulloblastoma Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Atrial flutter Restrictive cardiomyopathy Shield chest Synovitis Exercise-induced myalgia Glycosuria Organic aciduria Chronic fatigue Cardiorespiratory arrest Ketosis Drowsiness Fatigable weakness Acute kidney injury Rhabdomyolysis Lymphangioma Exercise intolerance Ragged-red muscle fibers Telecanthus Metabolic acidosis Pulmonary hypoplasia Lactic acidosis Nausea Joint hyperflexibility Nausea and vomiting Abnormality of the cerebral white matter Hyperlordosis High forehead Increased serum lactate Gait ataxia Depressivity Preductal coarctation of the aorta Respiratory distress Tremor Macrocephaly Dysarthria Ataxia Firm muscles Renal cyst Aciduria Amegakaryocytic thrombocytopenia Heterotopia Pancreatitis Acute pancreatitis Type I diabetes mellitus Cardiac arrest Superior pectus carinatum Clonus Leukodystrophy Wide anterior fontanel Renal dysplasia Reduced factor XII activity Waddling gait Neurofibrosarcoma Panuveitis Juvenile myelomonocytic leukemia Abnormality of the genital system Loose anagen hair Pectus excavatum of inferior sternum Gonadal neoplasm Reduced factor XIII activity Nasogastric tube feeding Loss of ability to walk Personality disorder Respiratory arrest Intellectual disability, mild Azoospermia Rod-cone dystrophy Constipation Patent ductus arteriosus Clinodactyly Pectus excavatum Hernia Abnormality of cardiovascular system morphology Downslanted palpebral fissures Hypogonadism Myopia Brachydactyly Epicanthus Cryptorchidism Sensorineural hearing impairment Neoplasm Short stature Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Posteriorly rotated ears Proptosis Poor suck Facial asymmetry Amenorrhea Wide intermamillary distance Webbed neck Dental malocclusion Abnormal bleeding Abdominal distention Triangular face High, narrow palate Bruising susceptibility Pulmonic stenosis Low-set, posteriorly rotated ears Hypotrichosis Leukemia Amblyopia Lymphedema Plagiocephaly Broad forehead Abnormal cardiac septum morphology Sparse hair Postnatal growth retardation Arnold-Chiari malformation Pterygium Generalized aminoaciduria Cataplexy Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Gonadal dysgenesis Arnold-Chiari type I malformation Drusen Renal cortical cysts Reduced protein C activity Limb tremor Nonimmune hydrops fetalis Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Low posterior hairline Progressive spastic quadriplegia Glutaric aciduria Oliguria Elevated plasma acylcarnitine levels Ethylmalonic aciduria Elevated alkaline phosphatase Leukocytosis Shortened PR interval Failure to thrive in infancy Patent foramen ovale Hepatic periportal necrosis Myelodysplasia Cubitus valgus Defective dehydrogenation of isovaleryl CoA and butyryl CoA Radial deviation of finger Abnormality of the coagulation cascade Abnormality of color vision Abnormality of blood and blood-forming tissues Neurofibromas Abnormality of branched chain family amino acid metabolism Cystic hygroma Male infertility Abnormality of the vertebral column Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Neuroblastoma Hypersarcosinemia Abnormal CNS myelination Status epilepticus Abdominal wall muscle weakness Abnormal hemoglobin Neurological speech impairment Retinopathy Arthritis Hyperhidrosis Reduced beta/alpha synthesis ratio Abnormality of iron homeostasis Abnormality of temperature regulation Hypochromic anemia Portal fibrosis Migraine Decreased mean corpuscular volume Hypochromic microcytic anemia Poikilocytosis Anemia of inadequate production Anisocytosis Abnormality of the skull Osteomalacia Microcytic anemia Cholelithiasis Chest pain Pulmonary arterial hypertension Venous thrombosis Abnormal pattern of respiration Increased inflammatory response Hypertensive crisis Arteritis Gastrointestinal infarctions Amaurosis fugax Abnormal endocardium morphology Ascending tubular aorta aneurysm Arterial stenosis Inflammatory abnormality of the eye Myocardial infarction Abnormal aortic valve morphology Reduced consciousness/confusion Cerebral ischemia Gangrene Hemoptysis Abnormal heart valve morphology Psoriasiform dermatitis Vasculitis Subcutaneous nodule Reduced bone mineral density Hypogonadotrophic hypogonadism Confusion Aortic arch aneurysm Flexion contracture Cleft palate Thoracic aorta calcification Bicuspid pulmonary valve Abnormality of the left ventricular outflow tract Mitral atresia Cystic medial necrosis Ascending aortic dissection Aortic valve calcification Talipes equinovarus Thoracic aortic aneurysm Asymmetric septal hypertrophy Mitral stenosis Aortic dissection Double outlet right ventricle Hypoplastic left heart Heart murmur Aortic aneurysm Aortic valve stenosis Intrauterine growth retardation Pes planus Hepatitis Nemaline bodies Postural instability Pallor Osteoporosis Delayed skeletal maturation Minicore myopathy Stooped posture Generalized limb muscle atrophy Type 1 muscle fiber predominance Centrally nucleated skeletal muscle fibers Neonatal hypotonia Spinal rigidity Myopathic facies Ophthalmoparesis Limb-girdle muscular dystrophy Congenital hip dislocation Decreased fetal movement Talipes Hip dislocation Facial palsy Feeding difficulties in infancy Bradycardia Increased muscle fatiguability Lissencephaly Paralysis Conductive hearing impairment EEG abnormality Abnormality of metabolism/homeostasis Hearing impairment Congenital microcephaly Increased CSF protein Petechiae Purpura Macroglossia Microretrognathia Opacification of the corneal stroma Cerebral visual impairment Postnatal microcephaly Intellectual disability, profound Sloping forehead Cerebral calcification Neuronal loss in central nervous system Polymicrogyria Stroke Urinary incontinence Generalized tonic-clonic seizures Emphysema Diaphragmatic paralysis Pelvic girdle muscle weakness Stroke-like episode Wolff-Parkinson-White syndrome Dilatation of the cerebral artery Difficulty running Exertional dyspnea Dysphasia Nasal speech Peripheral demyelination Atrioventricular block Respiratory insufficiency due to muscle weakness Atherosclerosis Macular degeneration EMG abnormality Aspiration Progressive muscle weakness Type II diabetes mellitus Abnormality of the cardiovascular system Abnormality of movement Corneal opacity Decreased muscle mass Decreased carnitine level in liver Dehydration Delayed myelination Polyneuropathy Thick vermilion border Flat face Proteinuria Recurrent infections Cerebral atrophy Irregular respiration Adducted thumb Reduced muscle carnitine level Impaired gluconeogenesis Acute encephalopathy Generalized tonic-clonic seizures with focal onset Fasting hypoglycemia Endocardial fibroelastosis Decreased plasma carnitine Recurrent hypoglycemia Neck muscle weakness Cholestasis Abnormality of immune system physiology Skin rash Intellectual disability, severe Muscular hypotonia of the trunk Micropenis Cerebral cortical atrophy Cerebellar hypoplasia Microphthalmia Renal insufficiency Long philtrum Hypertonia Anteverted nares Protruding tongue Ventriculomegaly Hyperreflexia Visual impairment Mild proteinuria Abnormal glycosylation Areflexia of lower limbs Premature skin wrinkling Distal arthrogryposis Inverted nipples Postductal coarctation of the aorta



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