Congestive heart failure, and Renal insufficiency

Diseases related with Congestive heart failure and Renal insufficiency

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


Top matches:

Medium match MALIGNANT HYPERTHERMIA OF ANESTHESIA


Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.

MALIGNANT HYPERTHERMIA OF ANESTHESIA Is also known as hyperthermia of anesthesia

Related symptoms:

  • Fever
  • Metabolic acidosis
  • Muscle stiffness
  • Ventricular tachycardia
  • Tachypnea


SOURCES: ORPHANET MENDELIAN

More info about MALIGNANT HYPERTHERMIA OF ANESTHESIA

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 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

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

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 MATERNALLY-INHERITED DIABETES AND DEAFNESS


Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Low 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

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

Low 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

Low match PRIMARY SCLEROSING CHOLANGITIS


Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Top 5 symptoms//phenotypes associated to Congestive heart failure and Renal insufficiency

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Metabolic acidosis Pain Fever Encephalopathy Acidosis Hypoglycemia Lactic acidosis Hyperammonemia Constipation Diarrhea Dysarthria Weight loss Malabsorption Respiratory insufficiency Respiratory failure Myopathy Elevated hepatic transaminase Myalgia Dilated cardiomyopathy Generalized muscle weakness Arrhythmia Hyporeflexia Respiratory distress Abnormality of the liver Hepatomegaly Muscular hypotonia Acute hepatic failure Failure to thrive Generalized hypotonia Intellectual disability Tachypnea

Rare Symptoms - Less than 30% cases


Arthritis Ataxia Sensorineural hearing impairment Autoimmunity Visual impairment Hepatic failure Ptosis Dyspnea Exercise-induced rhabdomyolysis Peripheral neuropathy Dysphagia Hearing impairment Scarring Hepatic steatosis Stage 5 chronic kidney disease Abnormality of the kidney Peripheral axonal neuropathy Coma Prolonged prothrombin time Amyloidosis Hepatosplenomegaly Hypotension Decreased liver function Dilatation Splenomegaly Elevated creatine kinase after exercise Exercise intolerance Cholestasis External ophthalmoplegia Cholangitis Edema Myoglobinuria Depressivity Global developmental delay Portal hypertension Facial palsy Ragged-red muscle fibers Chronic kidney disease Generalized amyotrophy Bilateral sensorineural hearing impairment Pigmentary retinopathy Hepatic fibrosis Hypertrophic cardiomyopathy Ophthalmoplegia Retinopathy Increased serum lactate Acute hepatic steatosis Respiratory failure requiring assisted ventilation Prenatal maternal abnormality Rhabdomyolysis Recurrent myoglobinuria Elevated alkaline phosphatase of hepatic origin Neoplasm of the gallbladder Hypoparathyroidism Hypoketotic hypoglycemia Abnormality of the amniotic fluid Abnormal large intestine physiology Progressive peripheral neuropathy Polyclonal elevation of IgM Spider hemangioma Skeletal myopathy Respiratory tract infection Tricuspid regurgitation Amenorrhea Nasal speech Dysphonia Easy fatigability Respiratory insufficiency due to muscle weakness Hypergonadotropic hypogonadism Primary amenorrhea Nausea Progressive external ophthalmoplegia Limb muscle weakness Proximal muscle weakness Hypogonadism Cerebellar hypoplasia Elevated serum creatine phosphokinase Dilated superficial abdominal veins Spinal rigidity Proximal amyotrophy Decreased nerve conduction velocity Small for gestational age Cardiac arrest Hydrops fetalis Sensory impairment Muscle cramps Distal sensory impairment Lethargy Distal muscle weakness Spinal deformities Spasticity Difficulty walking Recurrent respiratory infections Ventriculomegaly Recurrent systemic pyogenic infections Feeding difficulties Nystagmus Neuronal loss in central nervous system Tremor Fatigue Pruritus Jaundice Osteopenia Abdominal pain Osteoporosis Cholangiocarcinoma Vitamin A deficiency Vitamin K deficiency Ascites Chronic hepatic failure Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Abnormal biliary tract morphology Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Cirrhosis Hepatitis Sensory ataxia Thyroiditis Cholestatic liver disease Ulcerative colitis Hepatocellular carcinoma Vitamin D deficiency Abnormal eosinophil morphology Sclerosing cholangitis Uveitis Vitamin E deficiency Type I diabetes mellitus Celiac disease Abnormality of the thyroid gland Inflammation of the large intestine Pleural effusion Cholelithiasis Hypoalbuminemia Pancreatitis Urinary retention Abnormal renal physiology Hydrocephalus Urinary incontinence Vasculitis Hallucinations Hemiparesis Cardiomegaly Peripheral demyelination Histiocytosis Migraine Gliosis Paraparesis Polyneuropathy Nephropathy Paresthesia Paraplegia Dementia Areflexia Headache Abnormal autonomic nervous system physiology Spastic paraparesis Myelopathy Orthostatic hypotension Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Decreased number of peripheral myelinated nerve fibers Axonal degeneration Kyphosis Aphasia Malnutrition Impotence Cerebral hemorrhage Rheumatoid arthritis Palmar telangiectasia Cachexia Atrioventricular block Recurrent infections Cerebellar hemorrhage Cerebellar atrophy Telangiectasia of the skin Chronic metabolic acidosis Congenital lactic acidosis Neuronal loss in the cerebral cortex Flexion contracture Gastroesophageal reflux Arthralgia Carious teeth Nausea and vomiting Abnormality of the skin Pulmonary arterial hypertension Telangiectasia Skin ulcer Osteolysis Pulmonary fibrosis Scleroderma Necrotizing encephalopathy Abnormal bowel sounds Pulmonary hypoplasia Low-set, posteriorly rotated ears Macrotia Atrial septal defect Ventricular septal defect Micrognathia Narrow foramen obturatorium Xerostomia Hypertensive crisis Decreased urine output Dyspareunia Oliguria Osteolytic defects of the phalanges of the hand Pulmonary infiltrates Periventricular cysts Increased head circumference Dehydration Hyperphosphatemia Abnormality of skeletal muscles Intermittent painful muscle spasms Necrotizing myopathy Hypercapnia Acute rhabdomyolysis Supraventricular tachycardia Ventricular extrasystoles Abnormality of masseter muscle Malignant hyperthermia Acute kidney injury Hyperkalemia Abnormality of the coagulation cascade Ventricular tachycardia Muscle stiffness High-output congestive heart failure Cardiomyocyte mitochondrial proliferation Proximal renal tubular acidosis Renal tubular acidosis Cystinuria Increased serum pyruvate Hyperalaninemia Dysgraphia Periventricular leukomalacia Ketoacidosis Athetosis Motor delay CNS hypomyelination Clonus Leukodystrophy Pneumonia Intellectual disability, severe Macrocephaly Renal cyst Oligohydramnios Skeletal muscle atrophy Vertigo Microvesicular hepatic steatosis Decreased activity of mitochondrial respiratory chain Dicarboxylic aciduria Macrovesicular hepatic steatosis Decreased activity of mitochondrial complex I Nonketotic hypoglycemia Increased lactate dehydrogenase activity Elevated plasma acylcarnitine levels Cataract Optic atrophy Diabetes mellitus Proteinuria Unsteady gait Retinal degeneration Type II diabetes mellitus Cerebral edema Progressive sensorineural hearing impairment Microcephaly Abnormal chorioretinal morphology Left bundle branch block Abnormality of lipid metabolism Retinal atrophy Glomerulopathy Abnormal retinal morphology Pancytopenia Macular dystrophy Vestibular dysfunction Bundle branch block Hyperglycemia Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Proximal tubulopathy Decreased plasma carnitine Depressed nasal ridge Esophageal varix Portal fibrosis Biliary tract abnormality Tubulointerstitial fibrosis Hepatic cysts Pancreatic cysts Congenital hepatic fibrosis Atelectasis Hematemesis Chronic lung disease Multiple renal cysts Enlarged kidney Polycystic kidney dysplasia Renal hypoplasia/aplasia Abnormal lung morphology Hypersplenism Potter facies Generalized edema Sudden cardiac death Severe lactic acidosis Fatigable weakness EMG: myopathic abnormalities Infantile muscular hypotonia Left ventricular hypertrophy Ventricular hypertrophy Stroke Periportal fibrosis Patent ductus arteriosus Thrombocytopenia Cognitive impairment Absence of renal corticomedullary differentiation Azotemia Hypoplasia of the ear cartilage Adenocarcinoma of the large intestine



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