Cardiomyopathy, and Meningitis

Diseases related with Cardiomyopathy and Meningitis

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


Top matches:

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 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 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

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Other less relevant matches:

Low 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

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 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

Low 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

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

Low 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 GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Meningitis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Headache Common - Between 50% and 80% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Abdominal pain Encephalitis Ataxia Arthralgia Global developmental delay Arthritis Lymphadenopathy Fatigue Migraine Abnormal facial shape Hepatomegaly Abnormal myocardium morphology Short stature Growth delay Arrhythmia Muscular hypotonia Pericarditis Cerebral ischemia Vomiting Proteinuria Stroke Dementia Edema Cranial nerve paralysis Developmental regression Vasculitis Papule Pain Tremor Hypertension Conjunctivitis Glomerulopathy Renal insufficiency Scoliosis Failure to thrive Elevated C-reactive protein level Recurrent respiratory infections Weight loss Periorbital edema Myocardial infarction Pleuritis Chest pain Dyspnea Myositis Myalgia Hematuria Paresthesia Nausea and vomiting Autoimmunity Skin rash Intellectual disability Kyphosis Elevated erythrocyte sedimentation rate Pleural effusion Generalized hypotonia Intrauterine growth retardation Anemia Long philtrum Vertigo Hepatosplenomegaly Irritability Dilatation Motor delay Cognitive impairment Spasticity Premature birth Erythema Corneal opacity Inguinal hernia Leukocytosis

Rare Symptoms - Less than 30% cases


Acidosis Orchitis Protuberant abdomen Abnormality of eye movement Abnormality of movement Hypertrophic cardiomyopathy Inflammatory abnormality of the eye Hypermelanotic macule Conjunctival hyperemia Optic neuritis Bruising susceptibility Neurological speech impairment Cerebellar atrophy Abnormal cerebellum morphology Gangrene Pulmonary infiltrates Hemoptysis Gliosis Neuritis Recurrent pharyngitis Endocarditis Neoplasm Aseptic necrosis Pulmonary arterial hypertension Leukoencephalopathy Anorexia Mitral regurgitation Cataract Abnormal heart valve morphology Gait disturbance Abnormality of the retinal vasculature Increased inflammatory response Aciduria Dystonia Arteritis Encephalopathy Camptodactyly of finger Generalized dystonia Behavioral abnormality Interstitial pulmonary abnormality Abnormality of the kidney Respiratory tract infection Petechiae Uveitis Osteopenia Hyperreflexia Gastrointestinal hemorrhage Depressed nasal bridge Hyperlordosis Nephropathy Cough Retinopathy Paralysis Thin upper lip vermilion Visual loss Pneumonia Abnormality of skin pigmentation Sinusitis Scarring Respiratory insufficiency Sensorineural hearing impairment Short neck Malabsorption Blindness Abnormality of epiphysis morphology Cardiomegaly Thrombocytopenia Epistaxis Joint stiffness Intestinal obstruction Reduced bone mineral density Microcephaly Glomerulonephritis Hemiplegia Abdominal distention Spondyloepiphyseal dysplasia Abnormal form of the vertebral bodies Venous thrombosis Strabismus Anteverted nares Pancreatitis Myopia Immunodeficiency Subcutaneous nodule Neutropenia Lateral displacement of the femoral head Bulbous nose Encephalomalacia Nephrosclerosis Stage 5 chronic kidney disease Abnormal immunoglobulin level Moyamoya phenomenon Anterior pituitary dysgenesis Premature arteriosclerosis Abnormal T cell morphology Glomerulosclerosis Astigmatism Hepatic failure Cellulitis Macule Muscle stiffness Decreased beta-galactosidase activity Abnormality of ganglioside metabolism Peripheral demyelination Abnormality of the dentition Platyspondyly Recurrent infections Hypothyroidism Shallow acetabular fossae Nausea Constipation Hernia Hip dislocation Increased thyroid-stimulating hormone level Right ventricular cardiomyopathy Brain atrophy Atherosclerosis Bone marrow hypocellularity Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Opacification of the corneal stroma Multiple cafe-au-lait spots Steatorrhea Hyperlipidemia Disproportionate short-trunk short stature Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Melanocytic nevus Nephritis Azoospermia Epiphyseal dysplasia Amyloidosis Lymphopenia B-cell lymphoma Steroid-resistant nephrotic syndrome Cellular immunodeficiency Multiple lentigines Lymphoma Mucopolysacchariduria Waddling gait Hypoplasia of the capital femoral epiphysis Decreased testicular size Arteriosclerosis Chronic kidney disease Microdontia Nephrotic syndrome Heterotopia Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Lumbar hyperlordosis Villous atrophy Intellectual disability, profound Fine hair Lymphoproliferative disorder Abnormal lung morphology Coarse hair Oral ulcer Episodic fever Oculomotor apraxia Pericardial effusion Abnormality of coagulation Increased antibody level in blood Osteomyelitis Menorrhagia Clubbing Abnormality of the thorax Portal hypertension Cholelithiasis Increased susceptibility to fractures Leukopenia Osteolysis Exertional dyspnea Spastic paraparesis Increased bone mineral density Bone pain Hepatic fibrosis Decreased body weight Osteoarthritis Progressive neurologic deterioration Pancytopenia Apraxia Abnormality of the cardiovascular system Cyanosis Syncope Pathologic fracture Gingival bleeding Generalized myoclonic seizures Abnormality of bone marrow cell morphology Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Spontaneous hematomas Hepatocellular carcinoma Fractures of the long bones Hypersplenism Esodeviation Generalized osteosclerosis Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Edema of the lower limbs Increased serum ferritin Bipolar affective disorder Parkinsonism Abnormal bleeding Reticulocytosis Memory impairment Pulmonary embolism Keratoconjunctivitis sicca Blurred vision Epiphora Inflammation of the large intestine Acne Rheumatoid arthritis Increased intracranial pressure Aortic regurgitation Hemiparesis Abnormal blistering of the skin Confusion Raynaud phenomenon Abnormal pyramidal sign Photophobia Reduced visual acuity Glaucoma Alopecia Fasciitis Hepatic amyloidosis Abnormality of the sacroiliac joint Erysipelas Chills Lymphocytosis Peritonitis Pustule Arterial thrombosis Ascites Panuveitis Cirrhosis Delayed puberty Abnormality of the eye EEG abnormality Osteoporosis Myoclonus Delayed skeletal maturation Depressivity Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Superficial thrombophlebitis Recurrent aphthous stomatitis Retrobulbar optic neuritis Iritis Iridocyclitis Posterior uveitis Anterior uveitis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Thrombophlebitis Thickened ribs Alopecia areata Stomatitis Cerebral degeneration Myocarditis Abnormality of the scrotum Ureteral stenosis Hypospadias Wide nasal bridge Flexion contracture Low-set ears Cryptorchidism Prostatitis Recurrent intrapulmonary hemorrhage Scleritis Episcleritis Abnormal oral cavity morphology Granulomatosis Respiratory failure Subglottic stenosis Ocular pain Rhinorrhea Nasal obstruction Recurrent corneal erosions Abnormality of the hypothalamus-pituitary axis Abnormality of the nose Concave nasal ridge Angina pectoris Chronic obstructive pulmonary disease Cerebral cortical atrophy Retrognathia Wheezing Aplasia/Hypoplasia of the corpus callosum Macrocephaly Feeding difficulties Abnormal pulmonary valve morphology Gastroparesis Hyperalaninemia 3-Methylglutaconic aciduria Moderate global developmental delay Abnormal aortic valve morphology Flat occiput Hyperammonemia Microretrognathia Umbilical hernia Intention tremor Interphalangeal joint contracture of finger Oligohydramnios Increased serum lactate Flat face Lactic acidosis Small for gestational age Short philtrum Wide mouth Intellectual disability, moderate Neonatal hypotonia Tracheal stenosis Restrictive ventilatory defect Myopathy Single transverse palmar crease Eosinophilia Tachypnea Narrow palpebral fissure Finger clinodactyly Recurrent pneumonia Short toe Recurrent otitis media Eczema Underdeveloped nasal alae Short metacarpal Retinal dystrophy Long palpebral fissure Downturned corners of mouth Tachycardia Postnatal growth retardation Hypogonadism Agenesis of corpus callosum Clinodactyly of the 5th finger Clinodactyly Intellectual disability, mild Ventricular septal defect Downslanted palpebral fissures Brachydactyly Partial agenesis of the corpus callosum Hip contracture Pulmonary fibrosis Proptosis Diabetes insipidus Stridor Chronic otitis media Purpura Hoarse voice Skin ulcer Diplopia Otitis media Sensory neuropathy Hydronephrosis Respiratory distress Irregular vertebral endplates Peripheral neuropathy Visual impairment Hearing impairment Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Prominent eyelashes Humoral immunodeficiency Short digit Pulmonary edema Narrow nose Dysphagia Prominent forehead Angiokeratoma corporis diffusum Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Abnormality of the skeletal system Frontal bossing Optic atrophy Skeletal muscle atrophy Muscle weakness Nystagmus Hypertelorism Abnormal gallbladder morphology Aseptic leukocyturia Strawberry tongue Abnormal emotion/affect behavior Mandibular prognathia Pyuria Arthralgia/arthritis Abnormality of nail color Coronary artery aneurysm Cervical lymphadenopathy CSF pleocytosis Abnormal pericardium morphology Glossitis Abnormal oral mucosa morphology Cholecystitis Severe short stature Macrotia Synovitis Bundle branch block 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 Dysostosis multiplex Beaking of vertebral bodies Abnormality of the urinary system Skeletal dysplasia Generalized hirsutism Gingival overgrowth Abnormality of the metaphysis Hypertrichosis Depressed nasal ridge Abnormality of the skin Macroglossia Broad nasal tip Neurodegeneration Dilated cardiomyopathy Coarse facial features Ascending tubular aorta aneurysm Cheilitis Hyperhidrosis Choreoathetosis Bulbar palsy Opisthotonus Malnutrition Spastic diplegia Intracranial hemorrhage Hyperkinesis Cerebral palsy Joint dislocation Exercise intolerance Large fontanelles Abnormality of extrapyramidal motor function Ketonuria Dehydration Neuronal loss in central nervous system Delayed myelination Coma Metabolic acidosis Dyskinesia Inability to walk Abnormality of the cerebral white matter Feeding difficulties in infancy Rigidity Hypoglycemia Malignant hyperthermia Dilation of lateral ventricles Allergy Hepatitis Tubulointerstitial nephritis Aortic root aneurysm Acute kidney injury Coronary artery atherosclerosis Hyponatremia Scaling skin Hypoalbuminemia Ischemic stroke Decreased liver function Cholestasis Jaundice Decreased plasma carnitine Ptosis Subdural hemorrhage Ketonemia Symmetrical progressive peripheral demyelination Macrocephaly at birth Glutaric acidemia Glutaric aciduria Retinal hemorrhage Infantile encephalopathy Acute encephalopathy Fasting hypoglycemia Horizontal supranuclear gaze palsy



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