Congestive heart failure, and Hepatocellular carcinoma

Diseases related with Congestive heart failure and Hepatocellular carcinoma

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


Top matches:

High match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1


Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

High 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

High 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

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Other less relevant matches:

High 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

High match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

High match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

High 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

Medium match CARNEY COMPLEX


Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

Low match PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 4


PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 4 Is also known as pfic4|tjp2 deficit

Related symptoms:

  • Neoplasm
  • Hypertension
  • Jaundice
  • Carcinoma
  • Abnormality of the liver


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 4

Low match PORPHYRIA CUTANEA TARDA


Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Top 5 symptoms//phenotypes associated to Congestive heart failure and Hepatocellular carcinoma

Symptoms // Phenotype % cases
Cirrhosis Very Common - Between 80% and 100% cases
Hepatomegaly Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Portal hypertension Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Ascites

Uncommon Symptoms - Between 30% and 50% cases


Anemia Abnormality of the liver Osteopenia Abdominal pain Cholestasis Hepatosplenomegaly Osteoporosis Hepatitis Increased serum ferritin Carcinoma Elevated hepatic transaminase Arrhythmia Global developmental delay Neoplasm Ataxia Cholelithiasis Strabismus Hepatic failure Failure to thrive Jaundice Delayed skeletal maturation Decreased body weight Depressivity Bone pain Osteolysis Progressive neurologic deterioration Epistaxis Oculomotor apraxia Hypertension Leukopenia Pulmonary arterial hypertension Abnormality of the thorax Encephalopathy Seizures Pancytopenia Dementia Scoliosis Short stature Myopia Diarrhea Kyphosis Thrombocytopenia Recurrent respiratory infections Myoclonus Cyanosis Dyspnea Corneal opacity Delayed puberty Abnormality of eye movement Lymphadenopathy Abnormal bleeding Generalized myoclonic seizures Syncope Clubbing Interstitial pulmonary abnormality Menorrhagia Avascular necrosis of the capital femoral epiphysis Alopecia Hepatic steatosis Edema Hyperpigmentation of the skin Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Spontaneous hematomas Hepatic fibrosis Generalized osteosclerosis Abnormality of the spleen Orthopnea Growth delay Supranuclear gaze palsy Petechiae Acute hepatic failure Exertional dyspnea Multiple myeloma

Rare Symptoms - Less than 30% cases


Intellectual disability Pallor Abnormality of coagulation Rigidity Hydrops fetalis Spasticity Motor delay Dystonia Hypertonia Vomiting Increased bone mineral density Pericardial effusion Increased susceptibility to fractures Dysphagia Opisthotonus Intrauterine growth retardation Sudden cardiac death Protuberant abdomen Restrictive deficit on pulmonary function testing Vertebral compression fractures Slow saccadic eye movements Bulbar palsy Abnormal facial shape Increased antibody level in blood Abdominal distention Proteinuria Hematuria Abnormality of skin pigmentation Heart murmur Aseptic necrosis Anorexia Horizontal supranuclear gaze palsy Abnormal myocardium morphology Malabsorption Ophthalmoplegia Scarring Exocrine pancreatic insufficiency Cholestatic liver disease Arthritis Stroke Hypoalbuminemia Pruritus Renal insufficiency Vitamin D deficiency Fever Pleural effusion Biliary atresia Cholangiocarcinoma Intrahepatic cholestasis Thyroid carcinoma Alcoholism Histiocytosis Pain Arthropathy Hypogonadism Chronic hepatic failure Retinopathy Arthralgia Impotence Diabetes mellitus Cardiomyopathy Bulbar signs Hypomagnesemia Peripheral arterial stenosis Coronal craniosynostosis Hyponatremia Pulmonary artery stenosis Trismus Abnormality of the vasculature Malnutrition Akinesia Ectropion Dilatation of the cerebral artery Posterior embryotoxon Vertebral segmentation defect Poor eye contact Epileptic spasms Long nose Prolonged neonatal jaundice Telangiectasia of the skin Aspiration pneumonia Limb hypertonia Atrophy/Degeneration affecting the brainstem Abnormal pupil morphology Athetosis Keratoconus Chorioretinal atrophy Fetal akinesia sequence Congenital ichthyosiform erythroderma Hypokinesia Renal tubular acidosis Abnormality of the ureter Bilateral ptosis Abnormal anterior chamber morphology Peripheral pulmonary artery stenosis Developmental regression Respiratory distress Polyhydramnios Elbow flexion contracture Gastroesophageal reflux Umbilical hernia Cardiac arrest Hypoglycemia Aspiration Apnea Feeding difficulties in infancy Microcephaly Irritability Cough Lethargy Nausea Pulmonary hypoplasia Brain atrophy Abnormality of the skin Decreased fetal movement Progressive microcephaly Flexion contracture Generalized hypotonia Fat malabsorption Axenfeld anomaly Intracranial hemorrhage Hypopigmentation of the fundus Arterial stenosis Butterfly vertebrae Thickened skin Poor suck Band keratopathy Papillary thyroid carcinoma Hyperammonemia Purpura Butterfly vertebral arch Renal artery stenosis Multiple small medullary renal cysts Intrahepatic biliary atresia Hyperbilirubinemia Unicoronal synostosis Rectourethral fistula Reduced number of intrahepatic bile ducts Knee flexion contracture Hypocalcemia Peripheral neuropathy Increased circulating cortisol level Nonimmune hydrops fetalis Pigmented micronodular adrenocortical disease Thyroid follicular hyperplasia Sertoli cell neoplasm Pigmentation of the sclera Abnormal pigmentation of the oral mucosa Peripheral Schwannoma Profuse pigmented skin lesions Blue nevus Hepatocellular adenoma Cardiac myxoma Intra-oral hyperpigmentation Histiocytoma Bronchogenic cyst Uterine neoplasm Hypertension associated with pheochromocytoma Nodular goiter Vestibular Schwannoma Fibroadenoma of the breast Increased urinary cortisol level Adrenal pheochromocytoma Abnormality of circulating adrenocorticotropin level Intermittent jaundice Abnormal prolactin level Skin vesicle Porphyrinuria Viral hepatitis Facial hypertrichosis Congenital hypoplastic anemia Anemia of inadequate production Onycholysis Atypical scarring of skin Scleroderma Fragile skin Hypopigmented skin patches Erythema Cerebral palsy Generalized hirsutism Thin skin Inflammatory abnormality of the skin Hypertrichosis Cutaneous photosensitivity Abnormal blistering of the skin Hemolytic anemia Skin rash Pituitary growth hormone cell adenoma Recurrent paroxysmal headache Congenital nonbullous ichthyosiform erythroderma Laryngeal stridor Cafe-au-lait spot Subcutaneous nodule Nevus Hirsutism EEG with temporal sharp waves Slowed horizontal saccades Abnormal platelet aggregation CSF pleocytosis Giant cell hepatitis Polycystic ovaries Intestinal bleeding Subcutaneous hemorrhage Abducens palsy Axial dystonia Hemophagocytosis Eclabion Abnormal pattern of respiration Hypoxemia Abnormality of the larynx Neoplasm of the skin Hypermelanotic macule Osteochondroma Red hair Pancreatic adenocarcinoma Thyroid adenoma Adrenocortical carcinoma Testicular neoplasm Pituitary prolactin cell adenoma Neoplasm of the breast Enlarged polycystic ovaries Multiple lentigines Schwannoma Hypoplasia of the musculature Colon cancer Stomach cancer Ovarian cyst Parathyroid adenoma Neoplasm of the endocrine system Pituitary adenoma Prolactin excess Neoplasm of the pancreas Growth hormone excess Ovarian neoplasm Hypoplasia of the ulna Abnormality of ion homeostasis Glomerulosclerosis Dilated superficial abdominal veins Abnormality of the cardiovascular system Parkinsonism Bruising susceptibility Neurological speech impairment Abnormality of the eye EEG abnormality Cognitive impairment Adenocarcinoma of the large intestine Recurrent systemic pyogenic infections Osteoarthritis Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Elevated alkaline phosphatase of hepatic origin Palmar telangiectasia Abnormal biliary tract morphology Vitamin K deficiency Apraxia Meningitis Vitamin E deficiency Fractures of the long bones Nystagmus Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Hypersplenism Spastic paraparesis Esodeviation Periorbital edema Edema of the lower limbs Bipolar affective disorder Gingival bleeding Pathologic fracture Osteomyelitis Leukocytosis Reduced bone mineral density Vitamin A deficiency Sclerosing cholangitis Gait disturbance Cardiomegaly Increased reactive oxygen species production Pericarditis Osteomalacia Abnormal joint morphology Azoospermia Hypogonadotrophic hypogonadism Insulin resistance Telangiectasia Amenorrhea Restrictive cardiomyopathy Dilated cardiomyopathy Recurrent infections Abnormality of the hypothalamus-pituitary axis Chondrocalcinosis Joint dislocation Gynecomastia Limitation of joint mobility Vertigo Neoplasm of the liver Testicular atrophy Abnormal eosinophil morphology Generalized amyotrophy Prolonged prothrombin time Cholangitis Ulcerative colitis Uveitis Thyroiditis Amyloidosis Celiac disease Abnormality of the thyroid gland Inflammation of the large intestine Abnormal glucose tolerance Pancreatitis Type I diabetes mellitus Autoimmunity Weight loss Elevated transferrin saturation Aceruloplasminemia Constrictive pericarditis Increased serum iron Microvesicular hepatic steatosis Tremor Hydrocephalus Renal hypoplasia/aplasia Anal atresia Vesicoureteral reflux Triangular face Hypodontia Microcornea Hypopigmentation of the skin Short distal phalanx of finger Flat face Stage 5 chronic kidney disease Pulmonic stenosis Prominent nose Broad forehead Short philtrum Craniosynostosis Protruding ear Abnormality of the kidney Conductive hearing impairment Deeply set eye Coarse facial features Round face Gastrointestinal hemorrhage Acidosis Lymphedema Corneal dystrophy Hypercholesterolemia Spina bifida occulta Finger clinodactyly Multicystic kidney dysplasia Hemivertebrae Pointed chin Abnormal vertebral morphology Exotropia Specific learning disability Renal dysplasia Abnormal form of the vertebral bodies Hypertriglyceridemia Renal hypoplasia Nephrotic syndrome Coarctation of aorta Abnormality of the ribs Tetralogy of Fallot Pigmentary retinopathy Macrotia Brachycephaly Difficulty walking Abnormal retinal morphology Abnormal thrombosis Astrocytosis Protein-losing enteropathy Hypercoagulability Thoracic kyphosis Abnormal heart valve morphology Abnormality of the sternum Lower limb hyperreflexia Restrictive ventilatory defect Abnormal saccadic eye movements Pulmonary fibrosis Lymphopenia Intention tremor Progressive cerebellar ataxia Neurodegeneration Generalized tonic-clonic seizures Abnormal pyramidal sign Mental deterioration Aggressive behavior Aortic valve calcification Mitral valve calcification Upslanted palpebral fissure Ventricular septal defect Prominent forehead Clinodactyly of the 5th finger Areflexia Visual loss Clinodactyly Dilatation Intellectual disability, mild Atrial septal defect Abnormality of the skeletal system Abnormality of the acoustic reflex Frontal bossing Downslanted palpebral fissures Depressed nasal bridge Cryptorchidism Cataract Micrognathia Hypertelorism Hearing impairment Sleep myoclonus Hyperpigmentation in sun-exposed areas



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