Cardiomyopathy, and Encephalitis

Diseases related with Cardiomyopathy and Encephalitis

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


Top matches:

Medium match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Medium match GLUTARYL-COA DEHYDROGENASE DEFICIENCY


Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Medium match GM1-GANGLIOSIDOSIS, TYPE I


GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

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Other less relevant matches:

Medium match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Medium match LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO


Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by Hawn et al., 2003).

Related symptoms:

  • Ataxia
  • Neoplasm
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

Medium match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Low 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 PRIMARY IMMUNODEFICIENCY WITH POST-MEASLES-MUMPS-RUBELLA VACCINE VIRAL INFECTION


Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.

PRIMARY IMMUNODEFICIENCY WITH POST-MEASLES-MUMPS-RUBELLA VACCINE VIRAL INFECTION Is also known as primary immunodeficiency with post-mmr vaccine viral infection

Related symptoms:

  • Seizures
  • Fever
  • Skin rash
  • Hepatitis
  • Lymphopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY WITH POST-MEASLES-MUMPS-RUBELLA VACCINE VIRAL INFECTION

Low match GRANULOMATOSIS WITH POLYANGIITIS


Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Low match L-2-HYDROXYGLUTARIC ACIDURIA


L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

L-2-HYDROXYGLUTARIC ACIDURIA Is also known as l-2-hga|l-2-hydroxyglutaric acidemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about L-2-HYDROXYGLUTARIC ACIDURIA

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Encephalitis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Headache Uncommon - Between 30% and 50% cases
Developmental regression Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Muscular hypotonia Abnormal facial shape Cerebral ischemia Vomiting Intellectual disability Fatigue Growth delay Stroke Renal insufficiency Splenomegaly Migraine Arthralgia Hepatomegaly Nausea and vomiting Leukoencephalopathy Lymphadenopathy Pancreatitis Myalgia Abdominal pain Chest pain Motor delay Autoimmunity Pain Glomerulopathy Dystonia Dementia Lymphopenia Aciduria Proteinuria Pneumonia Diarrhea Abnormal cerebellum morphology Gliosis Weight loss Short stature Pericarditis Cough Hemoptysis Meningitis Generalized hypotonia Hypertension Intrauterine growth retardation Tremor Respiratory insufficiency Cerebellar atrophy Premature birth Long philtrum Pleural effusion Arrhythmia Congestive heart failure Pulmonary infiltrates Endocarditis

Rare Symptoms - Less than 30% cases


Arthritis Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Cardiomegaly Corneal opacity Joint stiffness Hyponatremia Pleuritis Hyperlordosis Increased inflammatory response Hepatosplenomegaly Intellectual disability, mild Sinusitis Recurrent respiratory infections Kyphosis Skin rash Blindness Short neck Optic atrophy Hyperreflexia Depressed nasal bridge Muscle weakness Strabismus Nystagmus Scoliosis Hearing impairment Restrictive ventilatory defect Myositis Immunodeficiency Retinopathy Cranial nerve paralysis Abnormal pyramidal sign Papule Respiratory distress Paresthesia Peripheral neuropathy Gastrointestinal hemorrhage Myocardial infarction Subcutaneous nodule Neoplasm Confusion Vasculitis Glomerulonephritis Dyspnea Anorexia Venous thrombosis Bone marrow hypocellularity Hematuria Visual loss Abnormal lung morphology Nephropathy Malabsorption Behavioral abnormality Hepatitis Scarring Thin upper lip vermilion Gangrene Abnormality of the retinal vasculature Spondyloepiphyseal dysplasia Macrocephaly Paralysis Inguinal hernia Abnormality of movement Respiratory failure Abnormality of extrapyramidal motor function Acidosis Gait disturbance Failure to thrive Cognitive impairment Spasticity Microcephaly Edema Hemiplegia Neuronal loss in central nervous system Hypertrophic cardiomyopathy Encephalopathy Abnormality of the kidney Vertigo Irritability Generalized dystonia Dilatation Camptodactyly of finger Cataract Anteverted nares Flexion contracture Thrombophlebitis Orchitis Erythema nodosum Chorioretinitis Immunologic hypersensitivity Retrobulbar optic neuritis Anterior uveitis Optic neuritis Iritis Low-set ears Iridocyclitis Posterior uveitis Ketonuria Superficial thrombophlebitis Cryptorchidism Downturned corners of mouth Tachycardia Postnatal growth retardation Hypogonadism Agenesis of corpus callosum Clinodactyly of the 5th finger Clinodactyly Ventricular septal defect Alopecia areata Downslanted palpebral fissures Brachydactyly Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Panuveitis Oral ulcer Pustule Stomatitis Photophobia Abnormal blistering of the skin Memory impairment Umbilical hernia Neonatal hypotonia Intellectual disability, moderate Erythema Wide mouth Reduced visual acuity Hemiparesis Glaucoma Alopecia Short philtrum Small for gestational age Lactic acidosis Chills Abnormality of the pleura Recurrent pharyngitis Retrognathia Mitral regurgitation Recurrent aphthous stomatitis Pulmonary embolism Arterial thrombosis Abnormal myocardium morphology Wide nasal bridge Raynaud phenomenon Single transverse palmar crease Uveitis Aseptic necrosis Keratoconjunctivitis sicca Cerebral cortical atrophy Blurred vision Epiphora Inflammation of the large intestine Acne Rheumatoid arthritis Hypospadias Increased intracranial pressure Aortic regurgitation Retinal dystrophy Short toe Short metacarpal Subglottic stenosis Recurrent intrapulmonary hemorrhage Scleritis Arteritis Episcleritis Abnormal oral cavity morphology Ureteral stenosis Neuritis Granulomatosis Ocular pain Delayed speech and language development Rhinorrhea Periorbital edema Elevated C-reactive protein level Inflammatory abnormality of the eye Nasal obstruction Recurrent corneal erosions Abnormality of the hypothalamus-pituitary axis Abnormality of the nose Prostatitis Atrial septal defect Angina pectoris Dysphasia L-2-hydroxyglutaric acidemia L-2-hydroxyglutaric aciduria Ependymoma Neoplasm of the nervous system Morphological abnormality of the pyramidal tract Organic aciduria Corpus callosum atrophy Atrophy/Degeneration affecting the brainstem Global brain atrophy Intellectual disability, severe Aplasia/Hypoplasia of the cerebellum Spastic tetraparesis Intellectual disability, progressive Horizontal nystagmus Truncal ataxia Leukodystrophy Tetraparesis Gait ataxia Myoclonus Concave nasal ridge Chronic obstructive pulmonary disease Underdeveloped nasal alae Long palpebral fissure Noncompaction cardiomyopathy Prominent eyelashes Humoral immunodeficiency Short digit Pulmonary edema Narrow nose Irregular vertebral endplates Hip contracture Partial agenesis of the corpus callosum Biconvex vertebral bodies Eosinophilia Tachypnea Narrow palpebral fissure Finger clinodactyly Recurrent pneumonia Chronic lung disease Recurrent otitis media Eczema Irregular femoral epiphysis Pericardial effusion Tracheal stenosis Purpura Wheezing Elevated erythrocyte sedimentation rate Petechiae Pulmonary fibrosis Diabetes insipidus Intestinal obstruction Stridor Chronic otitis media Conjunctivitis Sensorineural hearing impairment Hoarse voice Skin ulcer Diplopia Epistaxis Otitis media Sensory neuropathy Hydronephrosis Proptosis Visual impairment Reduced consciousness/confusion Shock Myocarditis Dysostosis multiplex Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Exaggerated startle response Psychomotor deterioration Abnormal diaphysis morphology Aplasia/Hypoplasia of the abdominal wall musculature Beaking of vertebral bodies Abnormality of the scrotum Abnormal heart valve morphology Bundle branch block Abnormality of the urinary system Generalized hirsutism Gingival overgrowth Inability to walk Abnormality of the metaphysis Hypertrichosis Angiokeratoma corporis diffusum Thickened ribs Dyskinesia Neurological speech impairment Astigmatism Rigidity Platyspondyly Hip dislocation Feeding difficulties in infancy Respiratory tract infection Osteopenia Hypothyroidism Thrombocytopenia Cerebral degeneration Recurrent infections Abnormality of the cerebral white matter Abnormality of eye movement Abnormality of the dentition Myopia Anemia Abnormality of ganglioside metabolism Decreased beta-galactosidase activity Depressed nasal ridge Abnormality of the skin Abnormality of skin pigmentation Ketonemia Intracranial hemorrhage Spastic diplegia Malnutrition Opisthotonus Hypertelorism Bulbar palsy Malignant hyperthermia Subdural hemorrhage Symmetrical progressive peripheral demyelination Hyperkinesis Macrocephaly at birth Glutaric acidemia Glutaric aciduria Retinal hemorrhage Infantile encephalopathy Acute encephalopathy Fasting hypoglycemia Decreased plasma carnitine Skeletal muscle atrophy Frontal bossing Macroglossia Coarse facial features Broad nasal tip Abdominal distention Neurodegeneration Dilated cardiomyopathy Metabolic acidosis Coma Delayed myelination Dehydration Skeletal dysplasia Abnormality of the skeletal system Macrotia Mandibular prognathia Severe short stature Choreoathetosis Large fontanelles Exercise intolerance Joint dislocation Cerebral palsy Stage 5 chronic kidney disease Bulbous nose Flat face Encephalomalacia Feeding difficulties Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Increased thyroid-stimulating hormone level Jaundice Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Abnormal pulmonary valve morphology Gastroparesis Subvalvular aortic stenosis Microretrognathia Increased serum lactate Oligohydramnios Cellulitis Interphalangeal joint contracture of finger Pulmonary arterial hypertension Dilation of lateral ventricles Intention tremor Hallucinations Aplasia/Hypoplasia of the corpus callosum Hyperalaninemia Hypotension Hyperammonemia Sepsis Flat occiput Nausea Abnormal aortic valve morphology Moderate global developmental delay 3-Methylglutaconic aciduria Dentinogenesis imperfecta Precocious atherosclerosis Hypoglycemia Fine hair Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Prominent forehead Heterotopia Hyperhidrosis Intellectual disability, profound Chronic kidney disease Lumbar hyperlordosis Nephrotic syndrome Microdontia Decreased testicular size Waddling gait Lymphoma Brain atrophy Neutropenia Coarse hair Glomerulosclerosis Villous atrophy Dysphagia Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Multiple cafe-au-lait spots Epiphyseal dysplasia Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Melanocytic nevus Nephritis Myopathy Severe demyelination of the white matter



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