Congestive heart failure, and Hypoglycemia

Diseases related with Congestive heart failure and Hypoglycemia

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


Top matches:

Medium match DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Medium match ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD


Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (OMIM ), short-chain acyl-CoA dehydrogenase deficiency (OMIM ), and very long-chain acyl-CoA dehydrogenase deficiency.VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999).Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001).

ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD Is also known as vlcad deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD

Medium match FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE


FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

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Other less relevant matches:

Medium 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

Medium 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

Medium match SYSTEMIC PRIMARY CARNITINE DEFICIENCY


Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

Low match ACYL-COA DEHYDROGENASE 9 DEFICIENCY


Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

ACYL-COA DEHYDROGENASE 9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency|acad9 deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ACYL-COA DEHYDROGENASE 9 DEFICIENCY

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Low match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY


Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

Low match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD


The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

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

Symptoms // Phenotype % cases
Failure to thrive Very Common - Between 80% and 100% cases
Cardiomyopathy Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Dilated cardiomyopathy

Common Symptoms - More than 50% cases


Hypertrophic cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases


Myalgia

Common Symptoms - More than 50% cases


Hyperammonemia

Uncommon Symptoms - Between 30% and 50% cases


Myopathy

Common Symptoms - More than 50% cases


Hepatomegaly

Uncommon Symptoms - Between 30% and 50% cases


Cardiomegaly Acidosis Metabolic acidosis Encephalopathy Elevated hepatic transaminase Lactic acidosis Arrhythmia Hepatic steatosis Pain Vomiting Hypoketotic hypoglycemia Elevated serum creatine phosphokinase Myoglobinuria Decreased liver function Motor delay Global developmental delay Exercise intolerance Lethargy Skeletal myopathy Growth delay Rhabdomyolysis Tachypnea Infantile muscular hypotonia Coma Muscle cramps Increased serum lactate Sudden cardiac death Decreased plasma carnitine Feeding difficulties Abnormality of the liver Renal insufficiency Ventricular hypertrophy Bradycardia Intellectual disability Respiratory distress Hepatic failure Small for gestational age

Rare Symptoms - Less than 30% cases


Ascites Exercise-induced rhabdomyolysis Decreased activity of mitochondrial respiratory chain Nonketotic hypoglycemia Sinus bradycardia Dicarboxylic aciduria Hyperalaninemia Cognitive impairment Hypotension Ketonuria Cardiac arrest Recurrent respiratory infections Left ventricular hypertrophy Respiratory tract infection Feeding difficulties in infancy Microvesicular hepatic steatosis Prenatal maternal abnormality Edema Recurrent myoglobinuria Abnormality of the amniotic fluid Pigmentary retinopathy Hydrops fetalis Peripheral neuropathy Generalized muscle weakness Severe lactic acidosis Irritability Optic atrophy Respiratory insufficiency Ataxia Immunodeficiency Depressivity Thrombocytopenia Reduced muscle carnitine level Impaired gluconeogenesis Irregular respiration Intellectual disability, mild Decreased carnitine level in liver Malar flattening Skeletal muscle atrophy Anteverted nares Cerebellar hemorrhage Patent ductus arteriosus Decreased activity of mitochondrial complex I EMG: myopathic abnormalities Generalized edema Cerebral edema Prolonged prothrombin time Proximal tubulopathy Macrovesicular hepatic steatosis Elevated creatine kinase after exercise Depressed nasal bridge Increased lactate dehydrogenase activity Elevated plasma acylcarnitine levels Acute hepatic failure Short stature Stroke Hearing impairment Fatigable weakness Sinusitis Midface retrusion Difficulty walking Ketotic hypoglycemia Areflexia Apnea Cholestasis Ventriculomegaly Dilatation Hyporeflexia Respiratory failure Distal muscle weakness Micronodular cirrhosis Retinopathy Peripheral axonal neuropathy Distal sensory impairment Sensory impairment Decreased nerve conduction velocity Tricuspid regurgitation Hypoparathyroidism Progressive peripheral neuropathy Acute hepatic steatosis Periportal fibrosis Recurrent corneal erosions Obesity Broad nasal tip Thin upper lip vermilion Deeply set eye Proximal muscle weakness Carcinoma Scarring Cirrhosis Thin vermilion border Distal amyotrophy Full cheeks Ketosis Otitis media Epistaxis Hypertriglyceridemia Progressive muscle weakness Hepatic fibrosis Acute encephalopathy Hyperlipidemia Progressive hearing impairment Recurrent sinusitis Reye syndrome-like episodes Athetosis Generalized tonic-clonic seizures with focal onset Cardiorespiratory arrest Behavioral abnormality Hyperactivity Autism Hepatosplenomegaly Autistic behavior Muscle stiffness Pericardial effusion Drowsiness Exercise-induced myalgia Normochromic microcytic anemia Respiratory arrest Exercise-induced myoglobinuria Hepatocellular necrosis Micrognathia Abnormal facial shape Macroglossia Cyanosis Heart murmur Atrial septal defect Penile hypospadias Enlarged kidney Abnormality of the genital system Cryptorchidism Anemia Intrauterine growth retardation Hypospadias Postnatal growth retardation Aciduria Decreased testicular size Mitral regurgitation Prolonged QT interval 3-Methylglutaric aciduria Hypokinesia Microcytic anemia Perineal hypospadias 3-Methylglutaconic aciduria Nonprogressive cerebellar ataxia Glutaric aciduria Testicular dysgenesis Noncompaction cardiomyopathy Neonatal hypoglycemia Pulmonary edema Fasting hypoglycemia Abdominal pain Increased head circumference Necrotizing encephalopathy Periventricular cysts Chronic metabolic acidosis Congenital lactic acidosis Neuronal loss in the cerebral cortex Fever Fatigue Confusion Cystinuria Clumsiness Delayed gross motor development Easy fatigability Decreased muscle mass Neck muscle weakness Excessive daytime somnolence Recurrent hypoglycemia Endocardial fibroelastosis Proximal renal tubular acidosis Increased serum pyruvate Biventricular hypertrophy Dysarthria Shortened PR interval Spasticity Dystonia Poor speech Tachycardia Pleural effusion Aspiration pneumonia Wolff-Parkinson-White syndrome Macrocephaly Dysgraphia Intellectual disability, severe Pneumonia Leukodystrophy Clonus CNS hypomyelination Renal tubular acidosis Ketoacidosis Periventricular leukomalacia Respiratory failure requiring assisted ventilation



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