Cardiomyopathy, and Hepatitis

Diseases related with Cardiomyopathy and Hepatitis

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


Top matches:

Low match PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY


Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.

PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY Is also known as hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

Low 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

Low match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

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Other less relevant matches:

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Low match MERRF


MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.

MERRF Is also known as fukuhara syndrome|myoclonus epilepsy associated with ragged-red fibres|merrf syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MERRF

Low match SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY


Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (OMIM ).

SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY Is also known as interstitial lung and liver disease|pap, reunion island type|pulmonary alveolar proteinosis, reunion island type|hereditary pulmonary alveolar proteinosis with hepatic involvement

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Vomiting
  • Encephalopathy
  • Jaundice


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY

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 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 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 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Hepatitis

Symptoms // Phenotype % cases
Fatigue Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Jaundice Uncommon - Between 30% and 50% cases
Hepatic failure Uncommon - Between 30% and 50% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Elevated hepatic transaminase Abdominal pain Hepatic steatosis Acute hepatic failure Hypogonadotrophic hypogonadism Arrhythmia Hypogonadism Splenomegaly Pericarditis Dyspnea Muscle weakness Respiratory insufficiency Diarrhea Ataxia Nausea and vomiting Lymphadenopathy Cough Proteinuria Intellectual disability Renal insufficiency Vomiting Migraine Short stature Peripheral neuropathy Sensorineural hearing impairment Seizures Dilated cardiomyopathy Arthralgia Congestive heart failure Irritability Pain Respiratory failure Anemia Behavioral abnormality Myocarditis Growth delay Failure to thrive Neoplasm Hepatomegaly Edema Pancreatitis Global developmental delay

Rare Symptoms - Less than 30% cases


Testicular atrophy Skin rash Recurrent respiratory infections Restrictive cardiomyopathy Weight loss Photophobia Hearing impairment Respiratory tract infection Erythema Sepsis Insulin resistance Hepatic fibrosis Hyperpigmentation of the skin Cardiomegaly Cirrhosis Arthritis Myocardial infarction Diabetes mellitus Alopecia Nephritis Conjunctivitis Gastrointestinal hemorrhage Ascites Ptosis Dilatation Elevated C-reactive protein level Hematuria Nausea Tubulointerstitial nephritis Hyponatremia Restrictive ventilatory defect Myalgia Pneumonia Respiratory distress Hepatic encephalopathy Encephalopathy Recurrent pharyngitis Abnormality of the urethra Anorexia Left ventricular hypertrophy Pulmonary arterial hypertension Abnormality of the pleura Ophthalmoplegia Generalized tonic-clonic seizures Myoclonus Chills Depressivity Optic atrophy Visual impairment Cognitive impairment Headache Decreased liver function Abnormality of the dentition Abnormality of the coagulation cascade Hypoglycemia Neoplasm of the liver Elevated serum creatine phosphokinase Myopathy Cholestasis Feeding difficulties Delayed puberty Tachycardia Thrombocytopenia Strabismus Chest pain Abnormal facial shape Exercise intolerance Osteoporosis Hypothyroidism Cholelithiasis Hepatosplenomegaly Hypertrophic cardiomyopathy Pallor Osteomalacia Abnormal myocardium morphology Portal fibrosis Osteopenia Motor delay Bronchitis Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Hyperuricemia Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Increased number of teeth Retinal atrophy Thoracic scoliosis Insulin-resistant diabetes mellitus Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Oligomenorrhea Subcapsular cataract Eosinophilia Abnormal emotion/affect behavior Recurrent bronchitis Glossitis Arteritis Abnormal pericardium morphology Conjunctival hyperemia CSF pleocytosis Cervical lymphadenopathy Male hypogonadism Oligospermia Tubular atrophy Elevated serum creatinine Pyuria Right ventricular hypertrophy Coronary artery aneurysm Attenuation of retinal blood vessels Abnormality of nail color Pendular nystagmus Ketoacidosis Arthralgia/arthritis Broad foot Posterior subcapsular cataract Gingivitis Short finger Glycosuria Hyperlipidemia Hyperinsulinemia Precocious puberty Elevated alkaline phosphatase Abnormality of the hand Polycystic ovaries Aseptic leukocyturia Goiter Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Atherosclerosis Portal hypertension Acanthosis nigricans Macular degeneration Accelerated skeletal maturation Absence seizures Nephrocalcinosis Generalized hirsutism Increased body weight Horizontal nystagmus Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Lipodystrophy Polydipsia Glomerulopathy Pulmonary fibrosis Progressive sensorineural hearing impairment Agenesis of permanent teeth Myocardial fibrosis Polyphagia Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Truncal obesity Urinary urgency Hydroureter Emphysema Strawberry tongue Polyuria Glucose intolerance Diabetes insipidus Hyperglycemia Hyperostosis Acne Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Chronic otitis media Abnormal oral mucosa morphology High-frequency hearing impairment Chronic fatigue Hyperostosis frontalis interna Glue ear Unilateral breast hypoplasia Dilatation of the bladder Scaling skin Thickened ears Granular macular appearance Leukocytosis Coronary artery atherosclerosis Receptive language delay Interstitial pulmonary abnormality Chronic active hepatitis Widely-spaced incisors Elevated erythrocyte sedimentation rate Abnormal adipose tissue morphology Abnormal heart valve morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Acute kidney injury Multifocal atrial tachycardia Aortic root aneurysm Recurrent cystitis Abnormal retinal artery morphology Facial hirsutism Meningitis Corneal erosion Dysuria Entropion Excessive salivation Esophageal stricture Acantholysis Abnormality of neutrophils Hypokalemic metabolic alkalosis Dyspareunia Mitral regurgitation Abnormal blistering of the skin Sudden cardiac death Precocious puberty in females Vasculitis Cranial nerve paralysis Dysphagia Abnormality of the femoral head Vitreous haze Ischemic stroke Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin Hypoalbuminemia EEG with occipital slowing ST segment depression Chronic hepatic failure Chronic obstructive pulmonary disease Abnormal left ventricle morphology Multinodular goiter Abnormality of female external genitalia Urethral stenosis Achromatopsia Acute pancreatitis Pyelonephritis Poor fine motor coordination Urinary retention Arteriosclerosis Synovitis Tubulointerstitial fibrosis Abnormal renal physiology Vertical nystagmus Disinhibition Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst Macule Esophageal varix Ascending tubular aorta aneurysm Cholecystitis Bull's eye maculopathy Increased total bilirubin Gynecomastia Urethral stricture Allergy Hypoplastic male external genitalia Abnormality of the pituitary gland Inflammatory abnormality of the eye Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Abnormal chorioretinal morphology Frontal balding Epigastric pain Abnormality of dental color Lumbar scoliosis Cheilitis Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Hepatic necrosis Constipation Sinusitis Elevated transferrin saturation Developmental regression Mental deterioration EEG abnormality Acidosis Dementia Hypoplasia of the corpus callosum Tremor Skeletal muscle atrophy Spasticity Muscular hypotonia Aceruloplasminemia Abnormality of the cerebral white matter Constrictive pericarditis Cholangiocarcinoma Increased serum iron Microvesicular hepatic steatosis Abnormal glucose tolerance Alcoholism Increased reactive oxygen species production Increased serum ferritin Hepatocellular carcinoma Arthropathy Abnormal joint morphology Neurological speech impairment Abnormality of movement Pleural effusion Hyperkinesis Mitochondrial myopathy Lipoma Hyperthyroidism Muscle fibrillation Multiple lipomas Mildly elevated creatine phosphokinase Right bundle branch block Sensory axonal neuropathy Ophthalmoparesis Abnormality of mitochondrial metabolism EMG: myopathic abnormalities Lactic acidosis Delayed gross motor development Ragged-red muscle fibers External ophthalmoplegia Ventricular tachycardia EMG abnormality Palpitations Status epilepticus Generalized-onset seizure Increased serum lactate Generalized myoclonic seizures Sensory neuropathy Impotence Azoospermia Ventricular extrasystoles Microcytic anemia Abnormality of iron homeostasis Abnormality of temperature regulation Hypochromic anemia Abnormal hemoglobin Decreased mean corpuscular volume Hypochromic microcytic anemia Poikilocytosis Anemia of inadequate production Anisocytosis Abnormality of the skull Reduced bone mineral density Micrognathia Venous thrombosis Skin ulcer Postural instability Delayed skeletal maturation Abnormality of the skeletal system Hypermethioninemia Hypertyrosinemia Poor head control Delayed myelination Microcephaly Generalized hypotonia Reduced beta/alpha synthesis ratio Cleft palate Telangiectasia Decreased serum insulin-like growth factor 1 Amenorrhea Carcinoma Recurrent infections Abnormal protein glycosylation Type II transferrin isoform profile Cerebral venous thrombosis Increased muscle glycogen content Exercise-induced muscle fatigue Increased intramyocellular lipid droplets Reduced antithrombin III activity Chronic hepatitis Intellectual disability, mild Type I transferrin isoform profile Small face Hyperinsulinemic hypoglycemia Pierre-Robin sequence Malignant hyperthermia Rhabdomyolysis Cardiac arrest Bifid uvula Muscle cramps Cleft lip Prominent forehead Progressive external ophthalmoplegia Motor axonal neuropathy Abnormality of retinal pigmentation Autistic behavior Dry skin Infertility Carious teeth Pulmonic stenosis Hypermetropia Hypotrichosis Nyctalopia Retinopathy Scarring Sparse hair Postnatal growth retardation Stage 5 chronic kidney disease Abnormality of the kidney Conductive hearing impairment Deeply set eye Pes planus Kyphoscoliosis Gastroesophageal reflux Autism Hyperkeratosis Polydactyly Hyperhidrosis Rod-cone dystrophy Retinal degeneration Hirsutism Patent ductus arteriosus Cyanosis Chronic diarrhea Thickened skin Recurrent urinary tract infections Involuntary movements Recurrent otitis media Hypertriglyceridemia Epidermal acanthosis Type II diabetes mellitus Optic disc pallor Pigmentary retinopathy Specific learning disability Retinal dystrophy Progressive visual loss Decreased testicular size Otitis media Growth hormone deficiency Round face Urinary incontinence Vesicoureteral reflux Asthma Abdominal distention Sleep disturbance Nephropathy Hyporeflexia Visual loss Intrahepatic cholestasis Sinus tachycardia Basal ganglia necrosis Global systolic dysfunction Lacticaciduria Weakness of facial musculature Abnormality of thalamus morphology EEG with irregular generalized spike and wave complexes EEG with photoparoxysmal response Fatty replacement of skeletal muscle Diffuse cerebellar atrophy Cytochrome C oxidase-negative muscle fibers Abnormality of brainstem morphology Hyperammonemia Decreased activity of mitochondrial respiratory chain Increased serum pyruvate Abnormal echocardiogram Right ventricular cardiomyopathy Stroke-like episode Gait imbalance Wolff-Parkinson-White syndrome Increased CSF lactate Supraventricular tachycardia Abnormality of the endocrine system Diffuse cerebral atrophy Lethargy Abnormality of the gastrointestinal tract Clinodactyly Endocarditis Obesity Kyphosis Dystonia Blindness Short neck Hypertension Delayed speech and language development Cataract Nystagmus Scoliosis Reduced consciousness/confusion Confusion Chronic lung disease Pulmonary infiltrates Hemoptysis Cellulitis Encephalitis Shock Bone marrow hypocellularity Lymphopenia Hallucinations Abnormal lung morphology Hypotension Abnormal gallbladder morphology



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