Congestive heart failure, and Abnormality of the kidney

Diseases related with Congestive heart failure and Abnormality of the kidney

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


Top matches:

Low match GLUCOCORTICOID DEFICIENCY 5; GCCD5


Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Ventricular septal defect
  • Congestive heart failure
  • Truncus arteriosus


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 5; GCCD5

Low match LEFT VENTRICULAR NONCOMPACTION 10; LVNC10


Related symptoms:

  • Hepatomegaly
  • Respiratory distress
  • Congestive heart failure
  • Dyspnea
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 10; LVNC10

Low match GENERALIZED ARTERIAL CALCIFICATION OF INFANCY


Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.

GENERALIZED ARTERIAL CALCIFICATION OF INFANCY Is also known as idiopathic infantile arterial calcification|infantile arteriosclerosis|occlusive infantile arteriopathy|idiopathic obliterative arteriopathy

Related symptoms:

  • Hypertension
  • Congestive heart failure
  • Dilatation
  • Papule
  • Tachycardia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GENERALIZED ARTERIAL CALCIFICATION OF INFANCY

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Other less relevant matches:

Low match PARAGANGLIOMAS 4; PGL4


PARAGANGLIOMAS 4; PGL4 Is also known as paraganglioma, familial malignant|pheochromocytoma, extraadrenal, and cervical paraganglioma|carotid body tumors and multiple extraadrenal pheochromocytomas|pheochromocytoma, familial extraadrenal|paragangliomas, hereditary extraadrenal

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 4; PGL4

Low match EBSTEIN MALFORMATION


Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.

EBSTEIN MALFORMATION Is also known as ebstein anomaly of the tricuspid valve

Related symptoms:

  • Fatigue
  • Ventricular septal defect
  • Respiratory insufficiency
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EBSTEIN MALFORMATION

Low 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

Low match HISTIOCYTOID CARDIOMYOPATHY


Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy|infantile cardiomyopathy with histiocytoid change|infantile xanthomatous cardiomyopathy|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|cardiomyopathy, focal lipid

Related symptoms:

  • Ventricular septal defect
  • Hydrocephalus
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HISTIOCYTOID CARDIOMYOPATHY

Low match POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1


Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Low match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Low match CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME


Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME Is also known as sifd syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Abnormality of the kidney

Symptoms // Phenotype % cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
Left ventricular noncompaction Uncommon - Between 30% and 50% cases
Tachycardia Uncommon - Between 30% and 50% cases
Cardiomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cardiomyopathy

Rare Symptoms - Less than 30% cases


Immunodeficiency Growth delay Supraventricular tachycardia Nephrocalcinosis Ventricular tachycardia Ataxia Anemia Sudden cardiac death Arrhythmia Fatigue Neurodegeneration Tachypnea Atrial septal defect Respiratory distress Hypertension Abnormal myocardium morphology Hepatomegaly Pyelonephritis Progressive muscle weakness Psoriasiform dermatitis Leukocytosis Microcytic anemia Progressive proximal muscle weakness Severe failure to thrive Recurrent pharyngitis Rod-cone dystrophy Gastrointestinal inflammation Lymphadenopathy Pharyngitis Spasticity Cognitive impairment Brittle hair Delayed speech and language development Dysarthria Tremor Eczema Myalgia Abnormality of the liver Failure to thrive Abnormal atrioventricular conduction Decreased activity of mitochondrial complex I Histiocytoid cardiomyopathy Increased mitochondrial number Hypoplasia of the retina Acute tubular necrosis Sideroblastic anemia Scoliosis Muscle weakness Behavioral abnormality Ptosis Myopathy Hypochromic microcytic anemia Recurrent infections Elevated serum creatine phosphokinase Hepatosplenomegaly Elevated hepatic transaminase Anemia of inadequate production Proximal muscle weakness Hypertonia Dystonia Cerebral atrophy Decreased serum ceruloplasmin Slurred speech Polyuria Muscle fibrillation Increased serum ferritin Blepharospasm Cogwheel rigidity Scanning speech Refractory anemia Elevated hepatic iron concentration Cerebral palsy Decreased serum iron Aceruloplasminemia Seizures Global developmental delay Generalized hypotonia Hearing impairment Abnormal cerebellum morphology Sensorineural hearing impairment Lactic acidosis Hyperkinesis Torticollis Depressivity Skeletal myopathy Dementia Diabetes mellitus Aminoaciduria Gait ataxia Hypothyroidism Lymphopenia Difficulty walking Rigidity Poor speech Type I diabetes mellitus Decreased antibody level in blood Confusion Retinal degeneration Cirrhosis Parkinsonism Chorea Memory impairment Abnormality of extrapyramidal motor function Involuntary movements Endocardial fibroelastosis Microphthalmia Peters anomaly Pulsatile tinnitus Anxiety Palpitations Cranial nerve paralysis Neuroblastoma Renal cell carcinoma Pheochromocytoma Paraganglioma Gastrointestinal stroma tumor Recurrent paroxysmal headache Episodic paroxysmal anxiety Hyperhidrosis Adrenal pheochromocytoma Hypertension associated with pheochromocytoma Chemodectoma Extraadrenal pheochromocytoma Glomus jugular tumor Paraganglioma of head and neck Elevated urinary catecholamines Respiratory insufficiency Abnormality of cardiovascular system morphology Carcinoma Headache Abnormal heart morphology Papule Truncus arteriosus Dyspnea Syncope Left ventricular hypertrophy Pulmonary edema Oliguria Left ventricular noncompaction cardiomyopathy Ventricular flutter Dilatation Myocardial infarction Pain Mitral regurgitation Shock Hypophosphatemic rickets Ectopic calcification Cardiogenic shock Arterial calcification Coronary artery calcification Generalized arterial calcification Neoplasm Patent ductus arteriosus Abnormal cardiac septum morphology Wolff-Parkinson-White syndrome High-output congestive heart failure Hyperphosphatemia Acute hepatic failure Acute rhabdomyolysis Exercise-induced rhabdomyolysis Hypercapnia Elevated creatine kinase after exercise Necrotizing myopathy Intermittent painful muscle spasms Abnormality of skeletal muscles Abnormality of masseter muscle Myoglobinuria Cardiomyocyte mitochondrial proliferation Hydrocephalus Agenesis of corpus callosum Corneal opacity Hepatic steatosis Cardiac arrest Ventricular fibrillation Hypoplastic left heart Congenital glaucoma Ventricular extrasystoles Malignant hyperthermia Chest pain Abnormal renal morphology Premature birth Coarctation of aorta Atrial fibrillation Dextrocardia Right bundle branch block Bundle branch block Pierre-Robin sequence Cerebral ischemia Arterial thrombosis Abnormal endocardium morphology Acute kidney injury Ventricular preexcitation Atrial standstill Ebstein anomaly of the tricuspid valve Imperforate tricuspid valve Fever Metabolic acidosis Muscle stiffness Abnormality of the coagulation cascade Hyperkalemia Schistocytosis



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