Congestive heart failure, and Hepatitis

Diseases related with Congestive heart failure and Hepatitis

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


Top 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 PRIMARY SCLEROSING CHOLANGITIS


Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Low match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

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Other less relevant matches:

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 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 GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

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 INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY


Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.

INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY Is also known as combined oxidative phosphorylation defect type 16|coxpd16

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Headache
  • Elevated hepatic transaminase
  • Hypertrophic cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY

Low match HEMOCHROMATOSIS, TYPE 2B; HFE2B


Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (OMIM ). HFE2 is genetically heterogeneous (see HFE2A, {602390}).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM MESH MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 2B; HFE2B

Low match LEFT VENTRICULAR NONCOMPACTION 10; LVNC10


Related symptoms:

  • Hepatomegaly
  • Respiratory distress
  • Congestive heart failure
  • Dyspnea
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 10; LVNC10

Top 5 symptoms//phenotypes associated to Congestive heart failure and Hepatitis

Symptoms // Phenotype % cases
Elevated hepatic transaminase Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Cirrhosis Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Hepatitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Abdominal pain Hepatic failure Hepatic steatosis Ascites Ataxia Cardiomegaly Dyspnea Abnormality of the liver Hepatosplenomegaly Pulmonary arterial hypertension Jaundice Global developmental delay Osteopenia Anemia Hypogonadism Arrhythmia Cholelithiasis Myoclonus Acute hepatic failure Portal hypertension Edema Ophthalmoplegia Short stature Lymphadenopathy Irritability Respiratory tract infection Increased serum ferritin Fever Depressivity Encephalopathy Cholestasis Seizures Sensorineural hearing impairment Left ventricular hypertrophy Hepatocellular carcinoma Diabetes mellitus Pericarditis Recurrent respiratory infections Dilated cardiomyopathy Diarrhea Hepatic fibrosis Pain Dilatation Respiratory distress

Rare Symptoms - Less than 30% cases


Hyponatremia Tubulointerstitial nephritis Interstitial pulmonary abnormality Myocarditis Abnormal myocardium morphology Elevated C-reactive protein level Decreased liver function Pneumonia Thrombocytopenia Migraine Delayed skeletal maturation Hypothyroidism Delayed puberty Proteinuria Headache Purpura Ptosis Autoimmune thrombocytopenia Abnormality of the endocrine system Renovascular hypertension Nausea Peripheral neuropathy CSF pleocytosis Decreased activity of mitochondrial respiratory chain Cyanosis Pallor Thickened skin Anorexia Gastroesophageal reflux Kyphosis Dystonia Vomiting Motor delay Strabismus Failure to thrive Scoliosis Abnormality of mitochondrial metabolism Intellectual disability Increased serum lactate Generalized myoclonic seizures Generalized tonic-clonic seizures Developmental regression Dementia Behavioral abnormality Respiratory insufficiency Optic atrophy Syncope Tachycardia Cognitive impairment Spasticity Hearing impairment Hypertrophic cardiomyopathy Cough Growth delay Increased serum iron Inflammation of the large intestine Hypoalbuminemia Pancreatitis Type I diabetes mellitus Autoimmunity Scarring Weight loss Renal insufficiency Hypertension Cholangiocarcinoma Microvesicular hepatic steatosis Histiocytosis Testicular atrophy Pleural effusion Hypogonadotrophic hypogonadism Insulin resistance Hyperpigmentation of the skin Recurrent infections Arthritis Carcinoma Arthralgia Osteoporosis Alopecia Thyroiditis Restrictive cardiomyopathy Chronic hepatic failure Abnormal adipose tissue morphology Localized hirsutism Hypertriglyceridemia Epidermal acanthosis Type II diabetes mellitus Optic disc pallor Pigmentary retinopathy Specific learning disability Progressive visual loss Decreased testicular size Abnormality of renal calyx morphology Otitis media Growth hormone deficiency Gastrointestinal hemorrhage Round face Involuntary movements Vitreous haze Abnormality of the femoral head Urinary incontinence Vesicoureteral reflux Asthma Abdominal distention Sleep disturbance Nephropathy Retinal dystrophy Hirsutism Paralysis Stage 5 chronic kidney disease Recurrent otitis media Recurrent urinary tract infections Dry skin Atherosclerosis Nephritis Polydipsia Lipodystrophy Hyperinsulinemia Precocious puberty Elevated alkaline phosphatase Abnormality of the hand Polycystic ovaries Goiter Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Hyperlipidemia Acanthosis nigricans Chronic diarrhea Macular degeneration Accelerated skeletal maturation Absence seizures Nephrocalcinosis Generalized hirsutism Increased body weight Horizontal nystagmus Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Gynecomastia Sinusitis Abnormality of retinal pigmentation Retinal degeneration Abnormality of iron homeostasis Obsessive-compulsive behavior Abnormal platelet aggregation Obesity Abnormality of the dentition Blindness Short neck Visual impairment Delayed speech and language development Feeding difficulties Cataract Nystagmus EEG with temporal sharp waves Slowed horizontal saccades Cardiac valve calcification Hematological neoplasm Visual loss Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Orthopnea Laryngeal stridor Giant cell hepatitis Intestinal bleeding Spontaneous hematomas Subcutaneous hemorrhage Abducens palsy Axial dystonia Hemophagocytosis Eclabion Abnormal pattern of respiration Clinodactyly Patent ductus arteriosus Infertility Postnatal growth retardation Carious teeth Left ventricular noncompaction Pulmonic stenosis Hypermetropia Pulmonary edema Hypotrichosis Nyctalopia Retinopathy Sparse hair Autistic behavior Oliguria Left ventricular noncompaction cardiomyopathy Abnormality of the kidney Hyporeflexia Myalgia Conductive hearing impairment Deeply set eye Photophobia Pes planus Kyphoscoliosis Autism Hyperkeratosis Respiratory failure Polydactyly Hyperhidrosis Rod-cone dystrophy Constipation Chronic otitis media Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Poor fine motor coordination Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Acute pancreatitis Chills Pyelonephritis Hyperostosis frontalis interna Urinary retention Hematemesis Arteriosclerosis Tubulointerstitial fibrosis Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Esophageal varix Frontal balding Melena Chronic fatigue Albuminuria Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Abnormal muscle tone First degree atrioventricular block Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Abnormal spermatogenesis Chronic active hepatitis Decreased glomerular filtration rate Abnormality of the optic disc Chronic obstructive pulmonary disease Myocardial fibrosis Nonproductive cough Abnormal retinal morphology Abnormal retinal artery morphology Bronchitis Glycosuria Precocious puberty in females Glomerulopathy EEG with occipital slowing Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Polyphagia Chorioretinal atrophy Pericardial effusion Abnormality of prothrombin Increased number of teeth Restrictive deficit on pulmonary function testing Truncal obesity Urinary urgency Hydroureter Pulmonary fibrosis Emphysema Polyuria Glucose intolerance Diabetes insipidus Hyperglycemia Hyperostosis Acne Impaired vibratory sensation Hyperuricemia Subcapsular cataract Male hypogonadism Poor coordination Oligospermia Tubular atrophy Recurrent bronchitis Receptive language delay Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Pendular nystagmus Gingivitis Ketoacidosis Broad foot Posterior subcapsular cataract Oligomenorrhea Granular macular appearance Thoracic scoliosis Thickened ears Hyperventilation Alopecia of scalp Peripheral visual field loss Dilatation of the bladder Unilateral breast hypoplasia Glue ear Retinal atrophy Recurrent cystitis Insulin-resistant diabetes mellitus Widely-spaced incisors Hypoventilation Severe sensorineural hearing impairment Generalized osteosclerosis Aspiration pneumonia Avascular necrosis of the capital femoral epiphysis Generalized amyotrophy Cervical lymphadenopathy Conjunctival hyperemia Abnormal pericardium morphology Arteritis Glossitis Abnormal oral mucosa morphology Cholecystitis Ascending tubular aorta aneurysm Synovitis Cheilitis Inflammatory abnormality of the eye Recurrent pharyngitis Allergy Abnormality of nail color Abnormality of the thyroid gland Celiac disease Aortic root aneurysm Acute kidney injury Abnormal heart valve morphology Elevated erythrocyte sedimentation rate Amyloidosis Coronary artery atherosclerosis Leukocytosis Scaling skin Ischemic stroke Cranial nerve paralysis Conjunctivitis Coronary artery aneurysm Arthralgia/arthritis Meningitis Aceruloplasminemia Status epilepticus Generalized-onset seizure Sensory neuropathy Lactic acidosis Abnormality of movement Alcoholism Abnormality of the cerebral white matter Abnormal glucose tolerance Neurological speech impairment Mental deterioration EEG abnormality Acidosis Constrictive pericarditis Elevated serum creatine phosphokinase Pyuria Elevated transferrin saturation Myopathy Hypoplasia of the corpus callosum Tremor Skeletal muscle atrophy Muscular hypotonia Muscle weakness Pruritus Abnormal gallbladder morphology Aseptic leukocyturia Strawberry tongue Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Abnormal emotion/affect behavior Vasculitis Uveitis Neoplasm of the liver Lymphopenia Chronic mucocutaneous candidiasis Vitamin K deficiency Dilatation of the cerebral artery Hashimoto thyroiditis Pulmonary embolism Autoimmune hemolytic anemia Patent foramen ovale Encephalitis Recurrent upper respiratory tract infections Leukoencephalopathy Abnormal intestine morphology Abnormal biliary tract morphology Bronchiectasis Generalized osteoporosis Inflammatory abnormality of the skin Palmar telangiectasia Eczema Sepsis Hemolytic anemia Elevated alkaline phosphatase of hepatic origin Polyclonal elevation of IgM Spider hemangioma Abnormal large intestine physiology Neoplasm of the gallbladder Recurrent systemic pyogenic infections Dilated superficial abdominal veins Immunodeficiency Villous atrophy Immune dysregulation Mitral regurgitation Abnormal serum interferon-gamma level Myocardial infarction Ulcerative colitis Hematuria Cholestatic liver disease Nausea and vomiting Skin rash Erythema Cholangitis Prolonged prothrombin time Vitamin D deficiency Abnormal eosinophil morphology Sclerosing cholangitis Vitamin E deficiency Medial calcification of large arteries Enterocolitis Esophageal carcinoma Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Recurrent Aspergillus infections Carotid artery dilatation Functional abnormality of the bladder Autoimmune neutropenia Renal artery stenosis Vitamin A deficiency Antiphospholipid antibody positivity B lymphocytopenia Primary hypothyroidism Decrease in T cell count Palpitations EMG abnormality Abnormality of the spleen Bone pain Intracranial hemorrhage Poor suck Hyperammonemia Leukopenia Oculomotor apraxia Osteolysis Hyperbilirubinemia Knee flexion contracture Hypocalcemia Elbow flexion contracture Cardiac arrest Aspiration Progressive microcephaly Abnormality of the thorax Hydrops fetalis Decreased body weight Progressive neurologic deterioration Epistaxis Pancytopenia Decreased fetal movement Abnormality of the skin Brain atrophy Abnormal bleeding Pulmonary hypoplasia Abnormality of eye movement Lethargy Corneal opacity Bilateral ptosis Ectropion Amenorrhea Limb hypertonia Hypoxemia Abnormality of the larynx Multiple myeloma Congenital nonbullous ichthyosiform erythroderma Supranuclear gaze palsy Nonimmune hydrops fetalis Slow saccadic eye movements Trismus Bulbar signs Hypomagnesemia Fetal akinesia sequence Adenocarcinoma of the large intestine Epileptic spasms Protuberant abdomen Clubbing Atrophy/Degeneration affecting the brainstem Poor eye contact Congenital ichthyosiform erythroderma Bulbar palsy Exertional dyspnea Hypokinesia Petechiae Abnormality of coagulation Opisthotonus Menorrhagia Athetosis Heart murmur Akinesia Neoplasm Feeding difficulties in infancy Exercise intolerance Lipoma Right ventricular cardiomyopathy Stroke-like episode Gait imbalance Wolff-Parkinson-White syndrome Increased CSF lactate Supraventricular tachycardia Diffuse cerebral atrophy Intrahepatic cholestasis Motor axonal neuropathy Ventricular extrasystoles Progressive external ophthalmoplegia Mitochondrial myopathy Hyperthyroidism Abnormal echocardiogram Muscle fibrillation Multiple lipomas Mildly elevated creatine phosphokinase Right bundle branch block Sensory axonal neuropathy Ophthalmoparesis Increased reactive oxygen species production Hyperkinesis EMG: myopathic abnormalities Delayed gross motor development Ragged-red muscle fibers External ophthalmoplegia Ventricular tachycardia Portal fibrosis Increased serum pyruvate Apnea Arthropathy Rigidity Hypoglycemia Umbilical hernia Telangiectasia Polyhydramnios Hypertonia Azoospermia Dysphagia Intrauterine growth retardation Flexion contracture Abnormal facial shape Impotence Abnormal joint morphology Microcephaly Osteomalacia Generalized hypotonia 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 Sinus tachycardia Abnormality of brainstem morphology Ventricular flutter



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