Congestive heart failure, and Coma

Diseases related with Congestive heart failure and Coma

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


Top matches:

Medium match FAMILIAL ATRIAL MYXOMA


Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

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 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

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Other less relevant matches:

Medium 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

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 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D


3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Medium match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Medium match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Medium match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal 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 lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Medium match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

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

Symptoms // Phenotype % cases
Hypoglycemia Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hepatic steatosis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Lethargy

Uncommon Symptoms - Between 30% and 50% cases


Dilated cardiomyopathy

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Hyperammonemia

Common Symptoms - More than 50% cases


Vomiting

Uncommon Symptoms - Between 30% and 50% cases


Hypoketotic hypoglycemia

Common Symptoms - More than 50% cases


Pain

Uncommon Symptoms - Between 30% and 50% cases


Elevated hepatic transaminase Peripheral neuropathy Metabolic acidosis Elevated serum creatine phosphokinase Arrhythmia Myopathy Failure to thrive Muscle weakness Feeding difficulties Cardiomegaly Hepatomegaly Acidosis Decreased plasma carnitine Rhabdomyolysis Muscle cramps Abnormality of the liver Hepatic failure Myalgia Hypertrophic cardiomyopathy Dilatation Decreased liver function Respiratory insufficiency Tachypnea Behavioral abnormality Myoglobinuria Feeding difficulties in infancy Fever Fatigue Encephalopathy Cerebral hemorrhage Renal insufficiency Peripheral axonal neuropathy Pigmentary retinopathy Retinopathy Global developmental delay Ventriculomegaly

Rare Symptoms - Less than 30% cases


Alopecia Skeletal myopathy Recurrent hypoglycemia Respiratory distress Respiratory tract infection Ketonuria Cataract Abnormality of retinal pigmentation Hyporeflexia Respiratory failure Abdominal pain Recurrent respiratory infections Reye syndrome-like episodes Prenatal maternal abnormality Macrocephaly Intellectual disability Visual impairment Nephropathy Lactic acidosis Small for gestational age Skeletal muscle atrophy Hyperreflexia Acute hepatic steatosis Recurrent myoglobinuria Hypotension Apnea Areflexia Peripheral demyelination Hypertension Hypopigmentation of the skin Hydrops fetalis Polyneuropathy Abnormality of the amniotic fluid Exercise-induced rhabdomyolysis Atrial septal defect Cholestasis Confusion Chest pain Irritability Exercise intolerance Jaundice Tricuspid regurgitation Easy fatigability Headache Dicarboxylic aciduria Nonketotic hypoglycemia Cardiac arrest Macrovesicular hepatic steatosis Increased muscle lipid content Increased total bilirubin Biventricular hypertrophy Abnormality of nervous system morphology Elevated long chain fatty acids Basal ganglia cysts Long toe Aplasia/Hypoplasia of the testes Ureteral duplication Hepatic calcification Decreased plasma free carnitine Cystic renal dysplasia Neoplasm of the oral cavity Tapered toe Rod-cone dystrophy Micropenis Premature arteriosclerosis Hyperkeratosis Diabetes mellitus Hypogonadism Osteoporosis Abnormality of the dentition Intracerebral periventricular calcifications Neoplasm Short stature Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Heart block Hypothermia Polycystic kidney dysplasia Enlarged kidney Low-set ears High forehead Prominent forehead Posteriorly rotated ears Agenesis of corpus callosum High palate Flexion contracture Microcephaly Hydronephrosis 3-hydroxydicarboxylic aciduria Abnormality of acid-base homeostasis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Posterior staphyloma Elevated plasma acylcarnitine levels Gastrointestinal inflammation Abnormal chorioretinal morphology Neonatal hypotonia Abnormality of the foot Hyperkalemia Multicystic kidney dysplasia Hypoplastic toenails Overfolded helix Carcinoma Ventricular arrhythmia Narrow palate Knee flexion contracture Elbow flexion contracture Polymicrogyria Renal dysplasia Oligohydramnios Sloping forehead Wide intermamillary distance Aciduria Tapered finger Bulbous nose Proptosis Convex nasal ridge Joint stiffness Abnormality of the cerebral vasculature Polyuria Rocker bottom foot Abnormality of the thorax Polydipsia Renal neoplasm Osteosarcoma Peripheral arterial stenosis Meningioma Lack of skin elasticity Chondrocalcinosis Pili torti Myelodysplasia Abnormal left ventricle morphology Abnormality of the testis Slender build Squamous cell carcinoma High pitched voice Thyroid carcinoma Myeloid leukemia Premature loss of teeth Alopecia of scalp Neoplasm of the lung Pulmonary artery stenosis Prematurely aged appearance Ovarian neoplasm Secondary amenorrhea Scleroderma Premature graying of hair Telangiectasia of the skin Aplasia/Hypoplasia of the skin Posterior subcapsular cataract Lipoatrophy Progeroid facial appearance Decreased fertility Polyphagia White forelock Enlarged joints Leukemia Insulin resistance Gastrointestinal carcinoma Hoarse voice Increased bone mineral density Narrow face Abnormality of the hair Skin ulcer Decreased body weight Spontaneous abortion Sparse scalp hair Myocardial infarction Type II diabetes mellitus Decreased testicular size Subcapsular cataract Small hand Retinal degeneration Hypergonadotropic hypogonadism Neoplasm of the small intestine Abnormality of the voice Abnormal hair whorl Arteriosclerosis Narrow nasal ridge Cutaneous melanoma Lipodystrophy Dermal atrophy Chorioretinitis Soft tissue sarcoma Sarcoma Subcutaneous calcification Laryngomalacia Breast carcinoma Melanoma Atherosclerosis Macular degeneration Poliosis Type I diabetes mellitus Hepatic encephalopathy Spastic paraparesis Reduced consciousness/confusion Impaired gluconeogenesis Edema Infantile muscular hypotonia Motor delay Decreased carnitine level in liver Irregular respiration Reduced muscle carnitine level Acute encephalopathy Distal muscle weakness Generalized tonic-clonic seizures with focal onset Fasting hypoglycemia Endocardial fibroelastosis Excessive daytime somnolence Neck muscle weakness Decreased muscle mass Difficulty walking Distal sensory impairment Bradycardia Dehydration Seborrheic dermatitis Organic aciduria Ketoacidosis Hypoventilation Opisthotonus Progressive neurologic deterioration Cyanosis Generalized muscle weakness Depressivity Cerebral atrophy Respiratory failure requiring assisted ventilation Progressive peripheral neuropathy Hypoparathyroidism Decreased nerve conduction velocity Sensory impairment Delayed gross motor development Left ventricular hypertrophy Neutrophilia Thromboembolism Endocarditis Pulmonary edema Edema of the lower limbs Subarachnoid hemorrhage Growth hormone excess Dilatation of the cerebral artery Exertional dyspnea Increased inflammatory response Heart murmur Ischemic stroke Neoplasm of the skin Mitral valve prolapse Syncope Ascites Abnormality of skin pigmentation Orthopnea Bacterial endocarditis Clumsiness Drowsiness Ventricular hypertrophy Hepatocellular necrosis Exercise-induced myoglobinuria Respiratory arrest Exercise-induced myalgia Cardiorespiratory arrest Pericardial effusion Cardiac myxoma Muscle stiffness Sudden cardiac death Autistic behavior Hepatosplenomegaly Autism Hyperactivity Pulmonic valve myxoma Hyperglycinuria Encephalomalacia Cholestatic liver disease Myelopathy Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Constrictive median neuropathy Amyloid deposition in the vitreous humor Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Cardiac amyloidosis Myopia Axonal degeneration Sensorimotor neuropathy Preeclampsia Multiple lipomas Chorioretinal atrophy Loss of consciousness Abnormal electroretinogram Hypocalcemia Exotropia Abnormality of metabolism/homeostasis Anorexia Brain atrophy Retinal dystrophy Nausea Nyctalopia Photophobia Visual loss Orthostatic hypotension Aphasia Necrotizing encephalopathy Tremor Arthritis Weight loss Dementia Constipation Diarrhea Hydrocephalus Dysarthria Malabsorption Spasticity Sensorineural hearing impairment Nystagmus Ataxia Hearing impairment Acute hyperammonemia Propionyl-CoA carboxylase deficiency Facial palsy Paraplegia Malnutrition Abnormal autonomic nervous system physiology Impotence Rheumatoid arthritis Cachexia Atrioventricular block Cognitive impairment Paraparesis Vasculitis Paresthesia Hallucinations Hemiparesis Bilateral sensorineural hearing impairment Neuronal loss in central nervous system Migraine Urinary incontinence Gliosis Acral lentiginous melanoma



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