Cardiomyopathy, and Lymphadenopathy

Diseases related with Cardiomyopathy and Lymphadenopathy

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


Top matches:

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 CHOREOACANTHOCYTOSIS


Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

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

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Other less relevant matches:

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low 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

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

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

Low match MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY


Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Lymphadenopathy

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Abdominal pain Common - Between 50% and 80% cases
Meningitis Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pericarditis Ataxia Myalgia Diarrhea Hepatosplenomegaly Vomiting Recurrent pharyngitis Anorexia Abnormal myocardium morphology Arthritis Seizures Short stature Pain Leukocytosis Proteinuria Migraine Behavioral abnormality Arthralgia Headache Growth delay Fever Congestive heart failure Vasculitis Nausea and vomiting Dyspnea Pneumonia Edema Global developmental delay Ascites Dilatation Scoliosis Cranial nerve paralysis Jaundice Irritability Cough Nausea Hepatitis Pancreatitis Erythema Chest pain Hematuria Arrhythmia Neoplasm Myocarditis Elevated C-reactive protein level Chills Weight loss Renal insufficiency Cognitive impairment Cataract Peripheral neuropathy Depressivity Immunodeficiency Elevated hepatic transaminase Recurrent respiratory infections Muscle weakness Failure to thrive

Rare Symptoms - Less than 30% cases


Myositis Respiratory failure Optic neuritis Pleuritis Periorbital edema Photophobia Bruising susceptibility Feeding difficulties Delayed puberty Respiratory tract infection Uveitis Myoclonus Scarring Retinopathy Vertigo Orchitis Visual loss Alopecia Pleural effusion Cardiomegaly Recurrent otitis media Sinusitis Short toe Gait disturbance Recurrent pneumonia Tachypnea Aseptic necrosis Constipation Strabismus Sensorineural hearing impairment Motor delay Respiratory insufficiency Respiratory distress Blindness Kyphosis Papule Paresthesia Anemia Muscular hypotonia Confusion Hemoptysis Cellulitis Hyponatremia Encephalitis Acne Eczema Dilated cardiomyopathy Pericardial effusion Portal hypertension Abnormality of the liver Elevated serum creatine phosphokinase Glomerulopathy Myopathy Tubulointerstitial nephritis Ptosis Pulmonary infiltrates Endocarditis Cirrhosis Pulmonary arterial hypertension Hepatic failure Tachycardia Abdominal distention Gastrointestinal hemorrhage Cyanosis Nystagmus Conjunctival hyperemia Decreased liver function Cholelithiasis Hepatic fibrosis Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Pyelonephritis Conjunctivitis Mitral regurgitation Myocardial infarction Skin rash Retinal dystrophy Dementia Postnatal growth retardation Dystonia Pallor Neurological speech impairment Generalized tonic-clonic seizures Intellectual disability Malabsorption Hyporeflexia Abnormality of eye movement Disinhibition Sleep disturbance Acute hepatic failure Abnormality of the eye Abnormal bleeding Parkinsonism Memory impairment Developmental regression Hypogonadism Involuntary movements Progressive neurologic deterioration Clinodactyly Ischemic stroke Decreased beta-glucocerebrosidase protein and activity Shock Bone marrow hypocellularity Lymphopenia Hallucinations Abnormal lung morphology Hypotension Sepsis Allergy Aortic root aneurysm Erlenmeyer flask deformity of the femurs Inflammatory abnormality of the eye Increased serum ferritin Hematological neoplasm Edema of the lower limbs Cardiac valve calcification Bipolar affective disorder Restrictive ventilatory defect Hepatocellular carcinoma Pathologic fracture Scaling skin Abnormality of coagulation Vascular calcification Cholestasis Petechiae Coronary artery atherosclerosis Increased antibody level in blood Biliary tract obstruction Puberty and gonadal disorders Hypoalbuminemia Hypersplenism Abnormality of the pleura Osteomyelitis Abnormal heart valve morphology Chronic lung disease Exertional dyspnea Acute kidney injury Protuberant abdomen Gingival bleeding Reduced consciousness/confusion Vitreous haze Vertebral compression fractures Abnormal chorioretinal morphology Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Epigastric pain Facial hirsutism Abnormality of dental color Abnormality of the spleen Lumbar scoliosis Abnormality of the urethra Chronic infection Generalized osteosclerosis Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Chronic hepatic failure ST segment depression Abnormality of the femoral head Dilatation of the bladder Synovitis Localized hirsutism Supranuclear gaze palsy Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Unilateral breast hypoplasia Thickened ears Multifocal atrial tachycardia Granular macular appearance Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Multiple myeloma Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Avascular necrosis of the capital femoral epiphysis Cheilitis Abnormal oral mucosa morphology Orthopnea Joint stiffness Retrobulbar optic neuritis Flank pain Hemiparesis Abnormal blistering of the skin Superficial thrombophlebitis Stroke Abnormal pyramidal sign Panuveitis Autoimmunity Genital ulcers Epididymitis Decreased level of D-mannose in urine Subcutaneous nodule Increased total bilirubin Arthralgia of the hip Reduced visual acuity Glaucoma Fractures of the long bones Hyperreflexia Hypopyon Fasciitis Spasticity Hepatic amyloidosis Myopia Abnormality of the sacroiliac joint Iritis Aortic regurgitation Delayed skeletal maturation Arterial thrombosis Erythema nodosum Thrombophlebitis Oral ulcer Alopecia areata Stomatitis Chorioretinitis Abnormality of bone marrow cell morphology Anterior uveitis Posterior uveitis Iridocyclitis Recurrent aphthous stomatitis Spontaneous hematomas Venous thrombosis Cerebral ischemia Raynaud phenomenon Gangrene Pustule Increased inflammatory response Pulmonary embolism Keratoconjunctivitis sicca Blurred vision Epiphora Inflammation of the large intestine Rheumatoid arthritis Increased intracranial pressure Thrombocytopenia Erysipelas Ascending tubular aorta aneurysm Arthralgia/arthritis Inguinal hernia Hernia Oculomotor apraxia Leukopenia Abnormal gallbladder morphology Aseptic leukocyturia Strawberry tongue Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Reduced bone mineral density Abnormal emotion/affect behavior Pyuria Abnormality of nail color Spastic paraparesis Coronary artery aneurysm Increased susceptibility to fractures Cervical lymphadenopathy Abnormality of the thorax CSF pleocytosis Clubbing Abnormal pericardium morphology Menorrhagia Arteritis Glossitis Immunologic hypersensitivity Cholecystitis Osteolysis Increased bone mineral density Neuritis Syncope Abnormal platelet function Osteoporosis Lymphocytosis Osteopenia EEG abnormality Corneal opacity Peritonitis Abnormality of skin pigmentation Generalized myoclonic seizures Reticulocytosis Esodeviation Abnormality of the cardiovascular system Bone pain Episodic fever Apraxia Pancytopenia Amyloidosis Epistaxis Macule Hypermelanotic macule Intestinal obstruction Muscle stiffness Peripheral demyelination Osteoarthritis Decreased body weight Frontal balding Progressive sensorineural hearing impairment Vertical nystagmus Premature birth Short digit Pulmonary edema Narrow nose Irregular vertebral endplates Hip contracture Long palpebral fissure Partial agenesis of the corpus callosum Spondyloepiphyseal dysplasia Eosinophilia Narrow palpebral fissure Finger clinodactyly Underdeveloped nasal alae Short metacarpal Single transverse palmar crease Prominent eyelashes Downturned corners of mouth Thin upper lip vermilion Agenesis of corpus callosum Clinodactyly of the 5th finger Long philtrum Intellectual disability, mild Anteverted nares Ventricular septal defect Downslanted palpebral fissures Intrauterine growth retardation Brachydactyly Abnormal facial shape Microcephaly Humoral immunodeficiency Noncompaction cardiomyopathy Self-mutilation of tongue and lips due to involuntary movements Polydactyly Hypotrichosis Nyctalopia Sparse hair Autistic behavior Abnormality of the kidney Conductive hearing impairment Deeply set eye Pes planus Kyphoscoliosis Gastroesophageal reflux Hypothyroidism Autism Hyperkeratosis Diabetes mellitus Irregular femoral epiphysis Hyperhidrosis Rod-cone dystrophy Patent ductus arteriosus Encephalopathy Obesity Abnormality of the dentition Short neck Optic atrophy Hypertension Visual impairment Delayed speech and language development Hearing impairment Biconvex vertebral bodies Generalized hypotonia Square-wave jerks Ophthalmoplegia Areflexia Sensory neuropathy Dyskinesia Abnormality of movement Abnormality of the foot Limb muscle weakness Attention deficit hyperactivity disorder Mental deterioration Hypertrophic cardiomyopathy Aggressive behavior Abnormality of the nervous system Anxiety Cerebral cortical atrophy Pes cavus Cerebral atrophy Generalized muscle weakness Ventriculomegaly Dysphagia Tremor Skeletal muscle atrophy Dysarthria Pharyngitis Gastrointestinal inflammation Severe failure to thrive Progressive proximal muscle weakness Psoriasiform dermatitis Progressive muscle weakness Proximal muscle weakness Recurrent infections Neurodegeneration Gliosis Subcortical dementia Dysgraphia Progressive choreoathetosis Progressive distal muscular atrophy Hair-pulling Abnormality of urine homeostasis Phonic tics Caudate atrophy Distal upper limb muscle weakness Abnormal erythrocyte morphology Difficulty in tongue movements Abetalipoproteinemia Mood changes Abnormal urinary color Muscle fiber atrophy Orofacial dyskinesia Chorea Tics Acanthocytosis Self-mutilation Protruding tongue Abnormality of the thyroid gland Generalized amyotrophy Personality changes Self-injurious behavior Abnormality of vision Drooling EMG abnormality Psychosis Neuronal loss in central nervous system Hypermetropia Pulmonic stenosis Bull's eye maculopathy Severe sensorineural hearing impairment Pendular nystagmus Gingivitis Ketoacidosis Broad foot Posterior subcapsular cataract Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Insulin-resistant diabetes mellitus Hypoventilation Autoimmune thrombocytopenia Right ventricular hypertrophy Thoracic scoliosis Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glycosuria Agenesis of permanent teeth Short finger Polyphagia Chorioretinal atrophy Abnormal retinal morphology Truncal obesity Urinary urgency Attenuation of retinal blood vessels Elevated serum creatinine Pulmonary fibrosis Retinal pigment epithelial atrophy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Acute pancreatitis Poor fine motor coordination Urinary retention Arteriosclerosis Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Endocardial fibroelastosis Recurrent bronchitis Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Chronic obstructive pulmonary disease Chronic fatigue Myocardial fibrosis Male hypogonadism Oligospermia Tubular atrophy Hydroureter Emphysema Carious teeth Progressive visual loss Hyperpigmentation of the skin Insulin resistance Abnormality of retinal pigmentation Chronic diarrhea Thickened skin Left ventricular hypertrophy Recurrent urinary tract infections Hypertriglyceridemia Epidermal acanthosis Type II diabetes mellitus Optic disc pallor Pigmentary retinopathy Specific learning disability Decreased testicular size Hypergonadotropic hypogonadism Otitis media Growth hormone deficiency Round face Urinary incontinence Vesicoureteral reflux Asthma Nephropathy Hepatic steatosis Hirsutism Stage 5 chronic kidney disease Retinal degeneration Dry skin Infertility Gynecomastia Horizontal nystagmus Polyuria Precocious puberty Glucose intolerance Diabetes insipidus Hyperglycemia Hyperostosis Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Chronic otitis media Nephritis Polydipsia Lipodystrophy Hyperinsulinemia Elevated alkaline phosphatase Increased body weight Abnormality of the hand Polycystic ovaries Goiter Cone/cone-rod dystrophy Hypercholesterolemia Hyperlipidemia Atherosclerosis Acanthosis nigricans Macular degeneration Accelerated skeletal maturation Absence seizures Nephrocalcinosis Hypogonadotrophic hypogonadism Generalized hirsutism Horizontal supranuclear gaze palsy



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