Congestive heart failure, and Cirrhosis

Diseases related with Congestive heart failure and Cirrhosis

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


Top matches:

Medium 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

Medium match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II


Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

Medium match CONGENITAL ATRANSFERRINEMIA


Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

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Other less relevant matches:

Medium match IDIOPATHIC PULMONARY FIBROSIS


Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.

IDIOPATHIC PULMONARY FIBROSIS Is also known as cfa|uip|usual interstitial pneumonia|interstitial pneumonitis, usual|idiopathic pulmonary fibrosis, familial|cryptogenic fibrosing alveolitis|fibrosing alveolitis, cryptogenic|fibrocystic pulmonary dysplasia

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC PULMONARY FIBROSIS

Medium match PULMONARY HYPERTENSION, PRIMARY, 1; PPH1


Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013).Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary HypertensionPPH2 (OMIM ) is caused by mutation in the SMAD9 gene (OMIM ) on chromosome 13q13; PPH3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ) on chromosome 7q31; and PPH4 (OMIM ) is caused by mutation in the KCNK3 gene (OMIM ) on chromosome 2p23.See {265400} for a possible autosomal recessive form of PPH.Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1 ), caused by mutation in the ENG gene (OMIM ), and HHT2 (OMIM ), caused by mutation in the ACVRL1 (ALK1) gene (OMIM ).

PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 Is also known as pulmonary arterial hypertension|pht|pah

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

Medium match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Medium match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Medium match GLYCOGEN STORAGE DISEASE IV; GSD4


GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Medium match HEREDITARY HEMORRHAGIC TELANGIECTASIA


Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

HEREDITARY HEMORRHAGIC TELANGIECTASIA Is also known as hht|rendu-osler disease|rendu-osler-weber disease

Related symptoms:

  • Seizures
  • Congestive heart failure
  • Cirrhosis
  • Hepatic failure
  • Hematuria


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HEMORRHAGIC TELANGIECTASIA

Medium 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

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

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Increased serum ferritin Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Fatigue Splenomegaly Cardiomyopathy Ascites Portal hypertension Pulmonary arterial hypertension Hypogonadism Diabetes mellitus Dyspnea Respiratory distress

Rare Symptoms - Less than 30% cases


Esophageal varix Impotence Microcytic anemia Difficulty walking Hyperpigmentation of the skin Hepatic failure Elevated hepatic transaminase Right ventricular failure Arthropathy Peripheral neuropathy Dilated cardiomyopathy Cough Cyanosis Abnormal lung morphology Osteoporosis Muscle weakness Scarring Arthritis Increased serum iron Vertigo Abnormality of iron homeostasis Arrhythmia Hepatosplenomegaly Epistaxis Hemoptysis Cholelithiasis Sudden cardiac death Hypothyroidism Exertional dyspnea Edema Pain Pneumonia Proximal muscle weakness Polyhydramnios Muscular dystrophy Flexion contracture Hyporeflexia Myopathy Talipes equinovarus Failure to thrive Arthrogryposis multiplex congenita Skeletal muscle atrophy Muscular hypotonia Hyperlordosis Cogwheel rigidity Generalized hypotonia Torticollis Poor speech Confusion Retinal degeneration Neurodegeneration Parkinsonism Chorea Memory impairment Abnormality of extrapyramidal motor function Involuntary movements Type I diabetes mellitus Cerebral palsy Aceruloplasminemia Hyperkinesis Slurred speech Polyuria Muscle fibrillation Blepharospasm Scanning speech Refractory anemia Decreased serum ceruloplasmin Elevated hepatic iron concentration Decreased serum iron Limb muscle weakness Fetal akinesia sequence Waddling gait Retinal telangiectasia Intestinal polyposis Visceral angiomatosis Cavernous hemangioma Conjunctival telangiectasia Cholecystitis Spontaneous hematomas Abnormality of cardiovascular system physiology Peripheral arteriovenous fistula Mucosal telangiectasiae Alopecia Arteriovenous malformation Arthralgia Retinopathy Hepatic steatosis Limitation of joint mobility Cholestasis Gynecomastia Joint dislocation Hepatocellular carcinoma Exocrine pancreatic insufficiency Chondrocalcinosis Abnormality of the cerebral vasculature Transient ischemic attack Decreased fetal movement Tubulointerstitial fibrosis Hydrops fetalis Hepatic fibrosis Decreased liver function Exercise intolerance Reduced tendon reflexes Limb-girdle muscular dystrophy Akinesia Myopathic facies Difficulty climbing stairs Generalized edema Limb joint contracture Subarachnoid hemorrhage Seizures Hematuria Migraine Gastrointestinal hemorrhage Nephrolithiasis Amblyopia Venous thrombosis Cerebral hemorrhage Telangiectasia of the skin Pulmonary embolism Rigidity Hypogonadotrophic hypogonadism Gait ataxia Pulmonary fibrosis Respiratory insufficiency Respiratory failure Gastroesophageal reflux Carcinoma Respiratory tract infection Bronchiectasis Scaling skin Clubbing Increased antibody level in blood Neoplasm Interstitial pulmonary abnormality Polycythemia Pulmonary infiltrates Clubbing of fingers Pulmonary insufficiency Crackles Alveolar cell carcinoma Hypocapnia Reticular pattern on pulmonary HRCT Fever Atransferrinemia Ground-glass opacification on pulmonary HRCT Increased total bilirubin Jaundice Leukemia Hyperbilirubinemia Prolonged neonatal jaundice Reticulocytosis Gout Anemia of inadequate production Chronic myelogenous leukemia Congenital hypoplastic anemia Increased hemoglobin Hypochromic anemia Increased red cell osmotic fragility Endopolyploidy on chromosome studies of bone marrow Reduced activity of N-acetylglucosaminyltransferase II Growth delay Recurrent infections Pallor Abnormality of the cardiovascular system Abnormality of the pancreas Hypochromic microcytic anemia Honeycomb lung Recurrent respiratory infections Dementia Abnormality of endocrine pancreas physiology Delayed puberty Infertility Amenorrhea Azoospermia Generalized hyperpigmentation Congenital hepatic fibrosis Abnormality of the anterior pituitary Elevated transferrin saturation Ataxia Abdominal pain Spasticity Cognitive impairment Delayed speech and language development Dysarthria Tremor Hypertonia Behavioral abnormality Dystonia Depressivity Lethargy Pulmonary artery vasoconstriction Chest pain Right ventricular hypertrophy Hypotension Cardiomegaly Ventricular hypertrophy Palpitations Telangiectasia Hoarse voice Scleroderma Acrocyanosis Capillary hemangioma Edema of the lower limbs Pulmonary aterial intimal fibrosis Abnormal thrombosis Abnormal tricuspid valve morphology Spontaneous, recurrent epistaxis Increased pulmonary vascular resistance Hemangiomatosis Pulmonary capillary hemangiomatosis Elevated right atrial pressure Arterial intimal fibrosis Pulmonary arterial medial hypertrophy Abnormality of the hypothalamus-pituitary axis



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