Congestive heart failure, and Nausea and vomiting

Diseases related with Congestive heart failure and Nausea and vomiting

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


Top matches:

Medium 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

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 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

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Other less relevant matches:

Medium match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

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

Medium match TSH-SECRETING PITUITARY ADENOMA


A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.

TSH-SECRETING PITUITARY ADENOMA Is also known as thyrotroph adenoma|pituitary thyrotrophic adenoma|thyroid stimulating hormone-secreting pituitary adenoma|tsh-oma

Related symptoms:

  • Seizures
  • Ptosis
  • Hypertension
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about TSH-SECRETING PITUITARY ADENOMA

Medium match HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA


Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma

Related symptoms:

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME


Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME Is also known as mitochondrial dna maintenance syndrome due to mgme1 deficiency|peo-myopathy-emaciation syndrome|mtdna maintenance syndrome due to mgme1 deficiency

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

Medium 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

Medium match PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

Top 5 symptoms//phenotypes associated to Congestive heart failure and Nausea and vomiting

Symptoms // Phenotype % cases
Vomiting Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cardiomyopathy Myopathy Hyperammonemia Pain Muscular hypotonia Failure to thrive Weight loss Metabolic acidosis Hypoglycemia Renal insufficiency Fatigue Acidosis Arrhythmia Hypoketotic hypoglycemia Hypertension Tremor Coma Hepatic steatosis Lethargy Dysphonia Tachypnea Easy fatigability Cardiac arrest Palpitations Lactic acidosis Hypertrophic cardiomyopathy Feeding difficulties Nausea Hepatomegaly Pallor Encephalopathy Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases


Respiratory tract infection Episodic hyperhidrosis Extraadrenal pheochromocytoma Elevated hepatic transaminase Recurrent respiratory infections Hypertension associated with pheochromocytoma Panic attack Elevated urinary dopamine Elevated urinary epinephrine Paraganglioma of head and neck Hyporeflexia Dyspnea Elevated urinary norepinephrine Positive regitine blocking test Generalized muscle weakness Paroxysmal vertigo Respiratory insufficiency Respiratory failure Cerebral hemorrhage Hypertensive retinopathy Glomerulosclerosis Conductive hearing impairment Hypotension Proteinuria Hematuria Chest pain Hypogonadism Hyperhidrosis Hypercalcemia Ptosis Aniridia Episodic paroxysmal anxiety Episodic abdominal pain Vocal cord paralysis Flushing Paraganglioma Sinus tachycardia Skeletal myopathy Cranial nerve compression Recurrent paroxysmal headache Adrenal pheochromocytoma Pulsatile tinnitus Dysphagia Diarrhea Decreased liver function Exercise intolerance Irritability Cardiomegaly Respiratory distress Decreased plasma carnitine Myalgia Bradycardia Global developmental delay Retinopathy Intellectual disability Exercise-induced rhabdomyolysis Pericardial effusion Rhabdomyolysis Myoglobinuria Muscle cramps Congenital cataract Tachycardia Generalized amyotrophy Carcinoma Neoplasm Renal cell carcinoma Respiratory failure requiring assisted ventilation Acute hepatic steatosis Prenatal maternal abnormality Cafe-au-lait spot Raynaud phenomenon Hemangioma Euthyroid hyperthyroxinemia Decreased circulating ACTH level Increased thyroid-stimulating hormone level Central adrenal insufficiency Female hypogonadism Adrenocorticotropin deficient adrenal insufficiency Decreased fertility in males Bitemporal hemianopia Erectile abnormalities Periodic hypokalemic paresis Abnormality of the pituitary gland Cranial nerve VI palsy Neoplasm of the endocrine system Enlarged pituitary gland Fourth cranial nerve palsy Internal ophthalmoplegia Abnormal visual field test Abnormality of hair density Heteronymous hemianopia Thyroid crisis Renal artery stenosis Albuminuria Pheochromocytoma Recurrent myoglobinuria Progressive peripheral neuropathy Elevated calcitonin Primary amenorrhea Proximal muscle weakness Facial palsy Ventriculomegaly Ophthalmoplegia Limb muscle weakness Stage 5 chronic kidney disease Peripheral neuropathy Amenorrhea Spinal deformities Cerebellar hypoplasia Proximal amyotrophy Hypergonadotropic hypogonadism Decreased female libido Progressive external ophthalmoplegia Spinal rigidity External ophthalmoplegia Respiratory insufficiency due to muscle weakness Ragged-red muscle fibers Chronic kidney disease Edema Dilatation Abnormality of the amniotic fluid Hepatic failure Nasal speech Hypoparathyroidism Tricuspid regurgitation Decreased nerve conduction velocity Hydrops fetalis Pigmentary retinopathy Sensory impairment Retinal capillary hemangioma Distal sensory impairment Peripheral axonal neuropathy Recurrent infections Small for gestational age Distal muscle weakness Abnormality of the liver Arachnoid hemangiomatosis Microcephaly Skeletal muscle atrophy Difficulty walking Cerebellar atrophy Kyphosis Sudden loss of visual acuity Osteoporosis Decreased fertility in females Congenital lactic acidosis Renal tubular acidosis Ketoacidosis Periventricular leukomalacia Dysgraphia Hyperalaninemia Increased serum pyruvate Cystinuria Proximal renal tubular acidosis Increased head circumference Necrotizing encephalopathy Periventricular cysts Chronic metabolic acidosis Neuronal loss in the cerebral cortex CNS hypomyelination Flexion contracture Constipation Gastroesophageal reflux Arthralgia Arthritis Autoimmunity Carious teeth Malabsorption Abnormality of the skin Pulmonary arterial hypertension Telangiectasia Skin ulcer Athetosis Clonus Pulmonary fibrosis Drowsiness Otitis media Nemaline bodies Myocarditis Myocardial fibrosis Atrial septal defect Behavioral abnormality Hyperactivity Autism Hepatosplenomegaly Autistic behavior Sudden cardiac death Muscle stiffness Cardiorespiratory arrest Leukodystrophy Exercise-induced myalgia Respiratory arrest Dicarboxylic aciduria Nonketotic hypoglycemia Exercise-induced myoglobinuria Hepatocellular necrosis Motor delay Dysarthria Macrocephaly Intellectual disability, severe Pneumonia Increased serum lactate Osteolysis Telangiectasia of the skin Secondary growth hormone deficiency Goiter Blindness Headache Osteopenia Delayed puberty Infertility Vertigo Progressive visual loss Diplopia Gynecomastia Hypogonadotrophic hypogonadism Cranial nerve paralysis Ventricular arrhythmia Hypokalemia Irregular respiration Impotence Hyperthyroidism Growth hormone excess Increased circulating gonadotropin level Prolactin excess Male hypogonadism Adrenocorticotropic hormone deficiency Menstrual irregularities Hemianopia Supraventricular arrhythmia Abnormality of the menstrual cycle Oculomotor nerve palsy Decreased carnitine level in liver Reduced muscle carnitine level Scleroderma Confusion Xerostomia Pulmonary infiltrates Osteolytic defects of the phalanges of the hand Oliguria Dyspareunia Decreased urine output Hypertensive crisis Narrow foramen obturatorium Abnormal bowel sounds Fever Abdominal pain Feeding difficulties in infancy Ventricular hypertrophy Impaired gluconeogenesis Clumsiness Left ventricular hypertrophy Delayed gross motor development Decreased muscle mass Neck muscle weakness Ketonuria Excessive daytime somnolence Recurrent hypoglycemia Endocardial fibroelastosis Fasting hypoglycemia Generalized tonic-clonic seizures with focal onset Acute encephalopathy Reye syndrome-like episodes Episodic hypertension



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