Cardiomyopathy, and Nausea and vomiting

Diseases related with Cardiomyopathy and Nausea and vomiting

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Nausea and vomiting that can help you solving undiagnosed cases.


Top matches:

Medium match SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY


Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (OMIM ).

SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY Is also known as interstitial lung and liver disease|pap, reunion island type|pulmonary alveolar proteinosis, reunion island type|hereditary pulmonary alveolar proteinosis with hepatic involvement

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Vomiting
  • Encephalopathy
  • Jaundice


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY

Low match SUDDEN CARDIAC FAILURE, INFANTILE; SCFI


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Feeding difficulties
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, INFANTILE; SCFI

Low match MALONIC ACIDURIA


Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

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Other less relevant matches:

Low match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM


The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM Is also known as cpt2, severe infantile form|cptii, severe infantile form|carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia|carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|cpt2, hepatocardiomuscular form|cptii, hepatoc

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Respiratory distress
  • Cardiomyopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

Low match GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4


Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Cryptorchidism
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4

Low match ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY


Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency|acad8 deficiency|acyl-coa dehydrogenase family, member 8, deficiency of|isobutyric aciduria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Low match VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY


Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as vlcadd|vlcad deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2


Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

Low match LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY


A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.

LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lcad

Related symptoms:

  • Generalized hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Myopathy
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Low match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Nausea and vomiting

Symptoms // Phenotype % cases
Vomiting Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Lethargy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Nausea and vomiting. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Myopathy Feeding difficulties Hepatomegaly Failure to thrive Dilated cardiomyopathy Global developmental delay Hyperammonemia Muscular hypotonia Hypoglycemia Encephalopathy Metabolic acidosis Dicarboxylic aciduria Cardiac arrest Hepatic steatosis Dehydration Diarrhea Cardiomegaly Acidosis Lactic acidosis Arrhythmia Decreased plasma carnitine Hepatic failure

Rare Symptoms - Less than 30% cases


Muscle weakness Myalgia Hypoketotic hypoglycemia Ataxia Sudden cardiac death Coma Hepatocellular necrosis Tachypnea Elevated serum creatine phosphokinase Respiratory distress Fever Hyperhidrosis Exercise-induced myoglobinuria Elevated hepatic transaminase Abdominal pain Hepatic encephalopathy Pain Respiratory failure Decreased activity of the pyruvate dehydrogenase complex Decreased activity of mitochondrial respiratory chain Hyperglycinemia Malnutrition Poor head control Leukodystrophy Nausea Abnormality of extrapyramidal motor function Epileptic encephalopathy Developmental regression Optic atrophy Myoclonus Absent speech Autistic behavior Migraine Visual impairment Flexion contracture Spasticity Anorexia Abnormal autonomic nervous system physiology Neonatal sepsis Exercise intolerance Abnormality of mitochondrial metabolism Nonketotic hyperglycinemia Cognitive impairment Generalized muscle weakness Mild expressive language delay Growth delay Microcephaly Hearing impairment Motor delay Fatigue Behavioral abnormality Skeletal myopathy Headache Autism Intellectual disability Photophobia Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Strabismus Pallor Elevated creatine kinase after exercise Attention deficit hyperactivity disorder Exercise-induced rhabdomyolysis Nonketotic hypoglycemia Atrial flutter Hypothermia Fatigable weakness Prolonged neonatal jaundice Vertigo Prolonged QT interval EMG: myopathic abnormalities Muscle stiffness Hypoglycemic coma Myoglobinuria Pachygyria Hypoglycemic encephalopathy Macrovesicular hepatic steatosis Respiratory arrest Loss of consciousness Ventricular hypertrophy Aciduria Episodic vomiting Chronic constipation Ketosis Poor appetite Recurrent urinary tract infections Heterotopia Febrile seizures Cryptorchidism Constipation Short stature Myocardial fibrosis Myocarditis Nemaline bodies Bradycardia Otitis media Congestive heart failure Abnormality of the gastrointestinal tract Acute hepatic failure Abnormality of the coagulation cascade Jaundice Neoplasm Hypothyroidism Rhabdomyolysis Anemia Infantile muscular hypotonia Progressive muscle weakness Nephropathy Irritability Neonatal hyperbilirubinemia Pyelonephritis Peripheral pulmonary artery stenosis Mild global developmental delay Asthma Pulmonic stenosis Atrial septal defect Delayed speech and language development Hypernatriuria Hypotension Increased circulating renin level Renal salt wasting Primary adrenal insufficiency Congenital hypothyroidism Hyperkalemia Adrenal insufficiency Apathy Hyponatremia Precocious puberty Shock Azoospermia Hyperpigmentation of the skin Gastrointestinal dysmotility



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