Congestive heart failure, and Respiratory tract infection

Diseases related with Congestive heart failure and Respiratory tract infection

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


Top matches:

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 MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

Low 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:

Low 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

Low 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

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 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1


Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). Genetic Heterogeneity of Arterial CalcificationGeneralized arterial calcification of infancy-2 (GACI2 ) is caused by mutation in the ABCC6 gene (OMIM ) on chromosome 16p13.Homozygous or compound heterozygous mutation in the NT5E gene (OMIM ) can cause adult-onset of calcification of arteries and joints (OMIM ).

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 Is also known as iiac|idiopathic infantile arterial calcification|gaci|arteriopathy, occlusive infantile|arterial calcification, idiopathic infantile

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Hypertension
  • Respiratory distress


SOURCES: OMIM MENDELIAN

More info about ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1

Low match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Low match PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY


Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C

Top 5 symptoms//phenotypes associated to Congestive heart failure and Respiratory tract infection

Symptoms // Phenotype % cases
Pneumonia Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Respiratory distress Muscle weakness Cardiomegaly Growth delay Cyanosis Cirrhosis Hypertension Increased serum lactate

Rare Symptoms - Less than 30% cases


Abnormal lung morphology Proximal muscle weakness Elevated serum creatine phosphokinase Abnormality of the liver Ascites Ventricular hypertrophy Encephalopathy Arrhythmia Acidosis Scoliosis Hyperalaninemia Hypoglycemia Respiratory insufficiency Right ventricular failure Right ventricular hypertrophy Dyspnea Lactic acidosis Metabolic acidosis Cough Pulmonary arterial hypertension Recurrent infections Scarring Fatigue Pain Short stature Seizures Global developmental delay Generalized hypotonia Progressive proximal muscle weakness Hypertrophic cardiomyopathy Muscular hypotonia Decreased activity of mitochondrial respiratory chain Motor delay Elevated hepatic transaminase Wolff-Parkinson-White syndrome Ketonuria Aspiration pneumonia Sinus bradycardia Macrocephaly Severe lactic acidosis Dysarthria Infantile muscular hypotonia Intellectual disability, severe Vomiting Arterial stenosis Renal insufficiency Leukodystrophy Clonus Pleural effusion Coronary artery stenosis Bradycardia Generalized arterial calcification Dystonia Feeding difficulties Cognitive impairment Spasticity Ataxia Periarticular calcification Coronary artery calcification Small for gestational age Otosclerosis Arterial calcification Vascular calcification Poor speech Tachycardia Optic atrophy Angioid streaks of the fundus Arteriosclerosis Tachypnea Necrotizing encephalopathy Hyperammonemia Restrictive deficit on pulmonary function testing Limb-girdle muscular dystrophy Gowers sign Skeletal muscle hypertrophy Increased variability in muscle fiber diameter Calf muscle hypertrophy Restrictive ventilatory defect Difficulty climbing stairs Difficulty running Upper limb muscle weakness Achilles tendon contracture Left ventricular failure Neck flexor weakness Scapular winging Muscle fiber atrophy Tip-toe gait Calf muscle pseudohypertrophy Muscle fiber necrosis Right ventricular dilatation Increased endomysial connective tissue Left ventricular systolic dysfunction Abnormal macrophage morphology EMG: myotonic runs EMG: positive sharp waves EMG: myotonic discharges Absent muscle fiber gamma sarcoglycan EMG: myopathic abnormalities Frequent falls CNS hypomyelination Chronic metabolic acidosis Athetosis Renal tubular acidosis Ketoacidosis Periventricular leukomalacia Dysgraphia Increased serum pyruvate Cystinuria Proximal renal tubular acidosis Increased head circumference Hypophosphatemic rickets Periventricular cysts Congenital lactic acidosis Broad-based gait Neuronal loss in the cerebral cortex Flexion contracture Skeletal muscle atrophy Facial palsy Hyperlordosis Muscular dystrophy Unsteady gait Long face Inability to walk Macroglossia Waddling gait Lumbar hyperlordosis Endocardial fibroelastosis Leukocytosis Ankylosis Scaling skin Abnormality of the pancreas Hypochromic microcytic anemia Hypochromic anemia Atransferrinemia Neoplasm Fever Respiratory failure Gastroesophageal reflux Carcinoma Bronchiectasis Clubbing Abnormality of the cardiovascular system Pulmonary fibrosis Increased antibody level in blood Interstitial pulmonary abnormality Exertional dyspnea Polycythemia Pulmonary infiltrates Clubbing of fingers Pulmonary insufficiency Crackles Alveolar cell carcinoma Hypocapnia Microcytic anemia Pallor Honeycomb lung Pathologic fracture Headache Paralysis Hepatic steatosis Abnormality of mitochondrial metabolism Microvesicular hepatic steatosis Joint stiffness Platyspondyly Joint hypermobility Hip dysplasia Osteoarthritis Arthropathy Arthritis Irregular vertebral endplates Exostoses Beaking of vertebral bodies Hip osteoarthritis Hip pain Morphological abnormality of the central nervous system Knee osteoarthritis Heberden's node Schmorl's node Anemia Hypothyroidism Reticular pattern on pulmonary HRCT Ground-glass opacification on pulmonary HRCT Pericardial effusion Pyelonephritis Immunodeficiency Hepatosplenomegaly Myalgia Dilated cardiomyopathy Lymphadenopathy Eczema Progressive muscle weakness Psoriasiform dermatitis Severe failure to thrive Recurrent pharyngitis Gastrointestinal inflammation Ptosis Pharyngitis Hearing impairment Conductive hearing impairment Papule Genu valgum Myocardial infarction Left ventricular hypertrophy Growth abnormality Glomerulosclerosis Rickets Hypophosphatemia Myopathy Pulmonary artery vasoconstriction Edema Hemoptysis Recurrent respiratory infections Vertigo Chest pain Sudden cardiac death Hypotension Epistaxis Palpitations Telangiectasia Hoarse voice Scleroderma Acrocyanosis Pulmonary aterial intimal fibrosis Capillary hemangioma Edema of the lower limbs 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 Reduced muscle fiber alpha sarcoglycan



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