Cardiomyopathy, and Eosinophilia

Diseases related with Cardiomyopathy and Eosinophilia

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


Top matches:

Medium match CHRONIC EOSINOPHILIC LEUKEMIA


Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Myalgia
  • Abnormality of the nervous system
  • Pruritus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EOSINOPHILIC LEUKEMIA

Medium match CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1


CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Is also known as rcm

Related symptoms:

  • Muscle weakness
  • Ventricular septal defect
  • Ventriculomegaly
  • Cardiomyopathy
  • Edema


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1

Medium match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

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Other less relevant matches:

Medium match ROIFMAN SYNDROME


Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Low match POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1


Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Low match STEVENS-JOHNSON SYNDROME


Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.

STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type

Related symptoms:

  • Anemia
  • Visual impairment
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STEVENS-JOHNSON SYNDROME

Low 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

Low match KAWASAKI DISEASE


Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

Low match TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME


Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).

TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME Is also known as tnf receptor 1-associated periodic syndrome|fpf|traps syndrome|hibernian fever, familial|familial hibernian fever|fhf|tnf receptor-associated periodic syndrome|tumor necrosis factor receptor-associated periodic syndrome|traps

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Edema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Eosinophilia

Symptoms // Phenotype % cases
Edema Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Eosinophilia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal myocardium morphology Headache Abdominal pain Leukocytosis Fever Growth delay Skin rash Erythema Diarrhea Meningitis Conjunctivitis Ptosis Recurrent pharyngitis Hepatomegaly Dyspnea Intellectual disability Ventricular septal defect Myalgia Restrictive cardiomyopathy Vomiting Thrombocytopenia Muscle weakness Myopathy Dilatation

Rare Symptoms - Less than 30% cases


Eczema Intellectual disability, mild Postnatal growth retardation Hepatosplenomegaly Downslanted palpebral fissures Hypogonadism Brachydactyly Abnormal facial shape Microcephaly Short stature Clinodactyly Immunodeficiency Nausea and vomiting Elevated hepatic transaminase Synovitis Conjunctival hyperemia Elevated C-reactive protein level Pericarditis Elevated erythrocyte sedimentation rate Cranial nerve paralysis Vasculitis Migraine Arthritis Arthralgia Bruising susceptibility Myocarditis Constipation Hernia Pain Sensorineural hearing impairment Neoplasm Macule Myocardial infarction Tachypnea Anemia Global developmental delay Hepatitis Generalized hypotonia Cardiomegaly Skeletal myopathy Pulmonary edema Cataract Muscular hypotonia Hypertrophic cardiomyopathy Strabismus Failure to thrive Myopia Pneumonia Seizures Nystagmus Neurofibrosarcoma Drusen Nasogastric tube feeding Neurofibromas Cystic hygroma Reduced factor XIII activity Male infertility Gonadal neoplasm Abnormality of the vertebral column Neuroblastoma Abnormality of blood and blood-forming tissues Gonadal dysgenesis Arnold-Chiari type I malformation Malignant hyperthermia Pectus excavatum of inferior sternum Reduced factor XII activity Nonimmune hydrops fetalis Atrial flutter Shield chest Loose anagen hair Juvenile myelomonocytic leukemia Schwannoma Multiple lentigines Asymmetry of the thorax Optic disc hypoplasia Panuveitis Lymphangioma Hypoplastic aortic arch Amegakaryocytic thrombocytopenia Superior pectus carinatum Abnormality of color vision Congenital cataract Abnormality of the coagulation cascade Facial asymmetry Webbed neck Dental malocclusion Abnormal bleeding Abdominal distention Triangular face High, narrow palate Inability to walk Pulmonic stenosis Amenorrhea Hypotrichosis Leukemia Broad forehead Abnormal cardiac septum morphology Sparse hair Low-set, posteriorly rotated ears Kyphoscoliosis Gastroesophageal reflux Wide intermamillary distance Coarctation of aorta Preductal coarctation of the aorta Arnold-Chiari malformation Cubitus valgus Myelodysplasia Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Poor suck Bicuspid aortic valve Ventricular hypertrophy Azoospermia Plagiocephaly Lymphedema Amblyopia Left ventricular hypertrophy Clumsiness Primary amenorrhea Low posterior hairline Radial deviation of finger Jaundice Postductal coarctation of the aorta Inguinal hernia Peripheral demyelination Chest pain Hepatic failure Nausea Vertigo Paresthesia Papule Behavioral abnormality Intestinal obstruction Abnormal gallbladder morphology Aseptic leukocyturia Strawberry tongue Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Abnormal emotion/affect behavior Pyuria Arthralgia/arthritis Muscle stiffness Hypermelanotic macule Coronary artery aneurysm Chills Hepatic amyloidosis Orchitis Abnormality of the sacroiliac joint Optic neuritis Erysipelas Neuritis Pleuritis Lymphocytosis Cellulitis Periorbital edema Peritonitis Myositis Reticulocytosis Uveitis Episodic fever Amyloidosis Abnormality of nail color Cervical lymphadenopathy Arrhythmia Mitral regurgitation Scaling skin Hypoalbuminemia Ischemic stroke Myeloproliferative disorder Endocardial fibrosis Decreased liver function Cholestasis Mastocytosis Coronary artery atherosclerosis Hematuria Respiratory tract infection Irritability Proteinuria Ventriculomegaly Proptosis Abnormality of metabolism/homeostasis Hyponatremia Interstitial pulmonary abnormality CSF pleocytosis Cheilitis Abnormality of the nervous system Abnormal pericardium morphology Arteritis Glossitis Abnormal oral mucosa morphology Cholecystitis Ascending tubular aorta aneurysm Pruritus Pulmonary infiltrates Inflammatory abnormality of the eye Allergy Tubulointerstitial nephritis Aortic root aneurysm Acute kidney injury Venous thrombosis Abnormal heart valve morphology Polyhydramnios Syncope Posteriorly rotated ears Tachycardia Underdeveloped nasal alae Short metacarpal Premature birth Single transverse palmar crease Retinal dystrophy Downturned corners of mouth Thin upper lip vermilion Sinusitis Motor delay Hypertension Agenesis of corpus callosum Clinodactyly of the 5th finger Respiratory insufficiency Long philtrum Respiratory distress Recurrent otitis media Short toe Anteverted nares Narrow nose Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Prominent eyelashes Humoral immunodeficiency Short digit Irregular vertebral endplates Recurrent pneumonia Hip contracture Long palpebral fissure Partial agenesis of the corpus callosum Spondyloepiphyseal dysplasia Pleural effusion Narrow palpebral fissure Finger clinodactyly Cerebellar hypoplasia Glaucoma Recurrent infections Corneal dystrophy Premature ovarian insufficiency Abnormal electroretinogram Recurrent upper respiratory tract infections Easy fatigability Ragged-red muscle fibers Stroke Exercise intolerance Hypoplasia of the brainstem Cardiac arrest Hemiparesis Pulmonary arterial hypertension Esotropia Aciduria Increased serum lactate Generalized muscle weakness Abnormality of mitochondrial metabolism Mitochondrial myopathy Intrauterine growth retardation Infantile axial hypotonia Acidosis Osteopenia Mental deterioration Feeding difficulties in infancy Depletion of mitochondrial DNA in muscle tissue Abnormal muscle fiber protein expression Exercise-induced lactic acidemia Inferior vermis hypoplasia Meningocele Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination 3-Methylglutaconic aciduria Organic aciduria Right ventricular hypertrophy Cardiorespiratory arrest Scoliosis Elevated serum creatine phosphokinase Rod-cone dystrophy Excessive salivation Hypokalemic metabolic alkalosis Abnormality of the urethra Abnormality of neutrophils Acantholysis Esophageal stricture Abnormality of the pleura Entropion Hypertelorism Dysuria Acute hepatic failure Corneal erosion Myocardial fibrosis Restrictive ventilatory defect Nephritis Pancreatitis Dyspareunia Heart murmur Endocardial fibroelastosis Short neck Ascites Abnormal heart morphology Patent ductus arteriosus Pectus excavatum Lactic acidosis Abnormality of cardiovascular system morphology Atrial septal defect Epicanthus Micrognathia Depressed nasal bridge Feeding difficulties High palate Cognitive impairment Low-set ears Cryptorchidism Atrioventricular block Myofibrillar myopathy Abnormal blistering of the skin Proximal muscle weakness Gastrointestinal inflammation Pustule Erythroderma Abnormal ventricular filling Abnormal cardiac atrium morphology Abnormality of the pulmonary veins Pharyngitis Pyelonephritis Hematochezia Abnormal mitochondrial number Severe failure to thrive Progressive proximal muscle weakness Psoriasiform dermatitis Progressive muscle weakness Dilated cardiomyopathy Abnormality of the liver Blepharitis Histiocytoid cardiomyopathy Gastrointestinal hemorrhage Renal insufficiency Sudden cardiac death Sepsis Cough Photophobia Weight loss Abnormality of the mitochondrion Recurrent respiratory infections Dysphagia Villous atrophy Abnormal left ventricle morphology Visual impairment Abnormality of cardiovascular system physiology Otitis externa Paronychia Recurrent infection of the gastrointestinal tract Thick nail Fasciitis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and High forehead, related diseases and genetic alterations Neuroblastoma and Prominent nasal bridge, related diseases and genetic alterations Visual impairment and Upslanted palpebral fissure, related diseases and genetic alterations Flexion contracture and Leukodystrophy, related diseases and genetic alterations

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