Cardiomyopathy, and Nephropathy

Diseases related with Cardiomyopathy and Nephropathy

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


Top matches:

Medium match HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION


Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.

HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION Is also known as hypertrophic cardiomyopathy and renal tubular disease due to mtdna mutation

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION

Medium match HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1


Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

Medium match AMYLOIDOSIS, FAMILIAL VISCERAL


AMYLOIDOSIS, FAMILIAL VISCERAL Is also known as german type amyloidosis|amyloidosis, systemic nonneuropathic|amyloidosis viii|amyloidosis, familial renal|ostertag type amyloidosis

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AMYLOIDOSIS, FAMILIAL VISCERAL

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium 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

Medium match RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA


Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA Is also known as inverse recessive dystrophic epidermolysis bullosa|rdeb-i|dystrophic epidermolysis bullosa inversa|inverse rdeb

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA

Medium match WAGR SYNDROME


WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Medium match RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME


Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME

Medium match WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Medium match METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Medium match ALG1-CDG


ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Nephropathy

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertrophic cardiomyopathy Hearing impairment Generalized hypotonia Global developmental delay Fever Hypertension Optic atrophy Edema Muscular hypotonia Glaucoma Ataxia Microcephaly Hematuria Sensorineural hearing impairment Diabetes mellitus Proteinuria Respiratory insufficiency

Rare Symptoms - Less than 30% cases


Dystonia Hepatic failure Lethargy Elevated serum creatine phosphokinase Arrhythmia Encephalopathy Cardiac arrest Vomiting Myopathy Cerebral cortical atrophy Muscle weakness Nephrotic syndrome Hepatosplenomegaly Splenomegaly Dehydration Cataract Rhabdomyolysis Nystagmus Cerebral atrophy Dysarthria Acidosis Metabolic acidosis Hyperammonemia Micrognathia Neoplasm Myoglobinuria Ketonuria Hypogonadism Abnormal vagina morphology Constipation Flexion contracture Fatigue Peripheral neuropathy Short stature Stage 5 chronic kidney disease Abnormality of the kidney Thrombocytopenia Cognitive impairment Cardiomegaly Coma Diarrhea Poor coordination Torsade de pointes Prolonged QTc interval Acute rhabdomyolysis Premature pubarche Elevated plasma acylcarnitine levels Premature thelarche Dementia Behavioral abnormality Spastic diplegia Dyspnea Headache Developmental regression Feeding difficulties in infancy Joint stiffness Ophthalmoplegia Malabsorption Delayed puberty Sleep disturbance Hyperactive deep tendon reflexes Schistocytosis Gastrointestinal hemorrhage Elevated hepatic transaminase Abnormal renal physiology Increased CSF lactate Gait disturbance Tubular atrophy Glomerulopathy Focal segmental glomerulosclerosis Absent speech Gait ataxia Hypothyroidism Pleural effusion Hypoglycemia Confusion Ventricular fibrillation Lactic acidosis Tachycardia Neurodegeneration Ragged-red muscle fibers Abnormal cerebellum morphology Increased serum lactate Spastic tetraplegia Clonus Ventricular tachycardia Drooling Left ventricular hypertrophy Oral-pharyngeal dysphagia Myopathic facies Hallucinations Recurrent urinary tract infections Blindness Methylmalonic aciduria Homocystinuria Hyperglycinemia Methylmalonic acidemia Tubulointerstitial abnormality Abnormal globus pallidus morphology Cerebellar hemorrhage Chronic metabolic acidosis Metabolic ketoacidosis Hypertelorism Intrauterine growth retardation Cerebellar atrophy Delayed CNS myelination Areflexia Jaundice Thin vermilion border Ascites Large fontanelles Portal hypertension Abnormality of coagulation Abnormality of immune system physiology Nonimmune hydrops fetalis Type I transferrin isoform profile Abnormality of the amniotic fluid Organic aciduria Tubulointerstitial nephritis Peripheral edema Immunodeficiency Abnormal autonomic nervous system physiology Abnormality of the urinary system Polydipsia Diabetes insipidus Dysuria Male hypogonadism Central apnea Gastric ulcer Abnormality of mesentery morphology Failure to thrive Respiratory distress Stroke Macrocytic anemia Neurological speech impairment Nausea and vomiting Postural instability Aciduria Pancytopenia Tetraparesis Choreoathetosis Paraparesis Pancreatitis Spastic tetraparesis Leukopenia Ischemic stroke Tubulointerstitial fibrosis Displacement of the external urethral meatus Abnormal mitochondrial morphology Hyperlipidemia Hemolytic-uremic syndrome Enterocolitis Feeding difficulties Elevated serum creatinine Reticulocytosis Acute kidney injury Abnormality of blood and blood-forming tissues Dysphasia Myalgia Irritability Purpura Renal amyloidosis Hepatic steatosis Sudden cardiac death Hemiparesis Progressive muscle weakness Hypertriglyceridemia Tachypnea Infantile muscular hypotonia Hemolytic anemia Hypoketotic hypoglycemia Decreased plasma carnitine Skeletal myopathy Generalized amyloid deposition Albuminuria Dicarboxylic aciduria Anuria Decreased serum complement factor B Abnormality of complement system Decreased serum complement factor I Decreased serum complement factor H Decreased level of thrombomodulin Abnormal lactate dehydrogenase activity Pain Azotemia Microangiopathic hemolytic anemia Abdominal pain Weight loss Restrictive cardiomyopathy Increased blood urea nitrogen Skin rash Paresthesia Polyneuropathy Complement deficiency Cholestasis Urticaria Amyloidosis Optic neuropathy Papilledema Drusen Hepatic encephalopathy Exercise-induced myoglobinuria Dysfunction of lateral corticospinal tracts Abnormality of the genitourinary system Visual impairment Microphthalmia Obesity Hypospadias Corneal opacity Leukemia Everted lower lip vermilion Microcornea Ambiguous genitalia Abnormality of the genital system Nephroblastoma Cryptorchidism Aniridia Acute lymphoblastic leukemia Hearing abnormality Renal neoplasm Hemihypertrophy Abnormality of the uterus Gonadoblastoma Peters anomaly Aplasia/Hypoplasia of the iris Streak ovary Decreased serum complement C3 Ptosis Abnormal mitochondrial shape Hepatocellular necrosis Atrophic scars Neonatal sepsis Growth delay Dysphagia Abnormality of metabolism/homeostasis Narrow mouth Dilated cardiomyopathy Nail dystrophy Abnormal blistering of the skin Recurrent skin infections Keratitis Milia Microglossia Global glomerulosclerosis Stenosis of the external auditory canal Corneal erosion Ankyloglossia Squamous cell carcinoma of the skin Skin erosion Esophageal stricture Tongue atrophy Oral mucosal blisters Abnormality of the anus Abnormal mitochondrial number Scoliosis Budd-Chiari syndrome



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Microcornea, related diseases and genetic alterations Congestive heart failure and Macroglossia, related diseases and genetic alterations Fever and Arachnodactyly, related diseases and genetic alterations Hydrocephalus and Intrauterine growth retardation, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more