Cardiomyopathy, and Diarrhea

Diseases related with Cardiomyopathy and Diarrhea

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


Top matches:

Low match DESMINOPATHY


Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.

DESMINOPATHY Is also known as desmin-related myofibrillar myopathy

Related symptoms:

  • Cardiomyopathy
  • Diarrhea
  • Arrhythmia
  • Constipation
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about DESMINOPATHY

Low match MALONIC ACIDURIA


Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Low match ATTRV122I AMYLOIDOSIS


Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.

ATTRV122I AMYLOIDOSIS Is also known as attr cardiomyopathy|attrv122i-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ttr-related amyloid cardiomyopathy|ttr-related cardiac amyloidosis

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Diarrhea
  • Congestive heart failure
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about ATTRV122I AMYLOIDOSIS

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Other less relevant matches:

Low 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

Low 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

Low match CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY


CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981)

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY Is also known as cpt deficiency, hepatic, type i|cpt i deficiency|carnitine palmitoyltransferase ia deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

Low match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Low match HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY


Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.

HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY Is also known as hyperinsulinism due to glutamodehydrogenase deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency|schad deficiency|hyperinsulinism due to schad deficiency

Related symptoms:

  • Failure to thrive
  • Motor delay
  • Peripheral neuropathy
  • Intrauterine growth retardation
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY

Low match BETA-THALASSEMIA


Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975).Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999).The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-THALASSEMIA

Low match CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B


Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. ClassificationOn the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; {118210}). Distal hereditary motor neuropathy (dHMN) (see {158590}), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999).McAlpine (1989) proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (OMIM ) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal).For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (OMIM ), CMT2A1 (OMIM ), CMT3 (DSS ), CMT4A (OMIM ), and CMTDIB (OMIM ). Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1Autosomal dominant demyelinating CMT1 is genetically heterogeneous disorder and can be caused by mutations in different genes (see CMT1A, {118220}; CMT1C, {601098}; CMT1D, {607678}), CMT1E (OMIM ), and CMT1F (OMIM ). See also {608236} for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B Is also known as hmsn1b|charcot-marie-tooth neuropathy, type 1b|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b|hereditary motor and sensory neuropathy ib|hereditary motor and sensory neuropathy i|hmsn i|peroneal muscular atrop

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Diarrhea

Symptoms // Phenotype % cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Lethargy Feeding difficulties Pain Hepatic steatosis Hypoketotic hypoglycemia Myopathy Hepatomegaly Generalized hypotonia Fatigue Failure to thrive Fever Sudden cardiac death Hyperammonemia Constipation

Rare Symptoms - Less than 30% cases


Elevated serum creatinine Hypertriglyceridemia Coma Nephropathy Thrombocytopenia Anemia Cognitive impairment Heart block Hyperlipidemia Hepatic failure Elevated serum creatine phosphokinase Hearing impairment Peripheral neuropathy Nausea Pallor Motor delay Growth delay Ataxia Feeding difficulties in infancy Irritability Elevated hepatic transaminase Behavioral abnormality Skeletal muscle atrophy Dicarboxylic aciduria Decreased plasma carnitine Myoglobinuria Cardiomegaly Exercise intolerance Hepatocellular necrosis Dilated cardiomyopathy Global developmental delay EMG: myopathic abnormalities Lactic acidosis Hypoglycemia Skeletal myopathy Atrial fibrillation Distal muscle weakness Abdominal pain Acidosis Hypogonadotrophic hypogonadism Abnormality of the skeletal system Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Hypoglycemic encephalopathy Increased circulating free fatty acid level Abnormality of acetylcarnitine metabolism Increased C-peptide level Splenomegaly Respiratory insufficiency Skin ulcer Delayed skeletal maturation Hepatic necrosis Osteopenia Jaundice Hepatosplenomegaly Postural instability Hepatitis Osteoporosis Congestive heart failure Fasting hyperinsulinemia Gastrointestinal dysmotility Autism Photophobia Attention deficit hyperactivity disorder Nausea and vomiting Vertigo Facial palsy Migraine Anorexia Abnormal autonomic nervous system physiology Abnormality of mitochondrial metabolism Proximal muscle weakness Hypoglycemic seizures Intrauterine growth retardation Neonatal hypotonia Confusion Pigmentary retinopathy Mildly elevated creatine phosphokinase Prolonged QT interval Proportionate short stature Neonatal hypoglycemia Acute hepatic failure Hyperinsulinemic hypoglycemia Venous thrombosis Prolonged prothrombin time Microcytic anemia Reduced bone mineral density Onion bulb formation Peripheral demyelination Split hand Chronic diarrhea Foot dorsiflexor weakness Decreased nerve conduction velocity Hammertoe Steppage gait Decreased motor nerve conduction velocity Axonal degeneration Decreased number of peripheral myelinated nerve fibers Upper limb undergrowth Sensory neuropathy Abnormal pupil morphology Motor polyneuropathy Spinal deformities Neuritis Limb tremor Ulnar claw Hypertrophic nerve changes Myelin outfoldings Tonic pupil Chronic sensorineural polyneuropathy Trophic changes related to pain Polyneuropathy Distal sensory impairment Cholelithiasis Abnormality of temperature regulation Osteomalacia Abnormality of the skull Anisocytosis Anemia of inadequate production Poikilocytosis Hypochromic microcytic anemia Decreased mean corpuscular volume Portal fibrosis Abnormal hemoglobin Hypochromic anemia Abnormality of iron homeostasis Distal amyotrophy Reduced beta/alpha synthesis ratio Optic atrophy Tremor Blindness Areflexia Hyporeflexia Pes cavus Diabetes mellitus Kyphoscoliosis Limb muscle weakness Abnormality of the foot Hyperhidrosis Microcephaly Headache Dysphasia Proteinuria Stage 5 chronic kidney disease Hemolytic anemia Pachygyria Hematuria Febrile seizures Metabolic acidosis Hemiparesis Purpura Abnormality of blood and blood-forming tissues Abnormality of metabolism/homeostasis Acute kidney injury Reticulocytosis Enterocolitis Hemolytic-uremic syndrome Complement deficiency Increased blood urea nitrogen Anuria Microangiopathic hemolytic anemia Azotemia Abnormal lactate dehydrogenase activity Heterotopia Renal insufficiency Decreased serum complement C3 Reduced ejection fraction Paresthesia Peripheral axonal neuropathy Episodic vomiting Impotence Pericardial effusion Orthostatic hypotension Exertional dyspnea Chronic constipation Edema of the lower limbs Right ventricular hypertrophy Abnormal echocardiogram Edema Atrial arrhythmia Biventricular hypertrophy Peripheral edema Cardiac amyloidosis Abnormal ventricular filling Orthostatic syncope Ketosis Poor appetite Hypertension Recurrent urinary tract infections Schistocytosis Decreased serum complement factor B Strabismus Conjugated hyperbilirubinemia Atrioventricular block Abnormality of the liver Neurological speech impairment Sepsis Hyperbilirubinemia Reduced tendon reflexes Hemiplegia/hemiparesis Loss of consciousness Renal tubular acidosis Nonketotic hypoglycemia Bulbar palsy Prenatal maternal abnormality Acute hepatic steatosis Reye syndrome-like episodes Recurrent encephalopathy Hyperemesis gravidarum Transient hyperlipidemia Intellectual disability Respiratory insufficiency due to muscle weakness Abnormal cardiac septum morphology Ventricular tachycardia Right bundle branch block Neck muscle weakness Abnormality of complement system Left anterior fascicular block Decreased serum complement factor I Decreased serum complement factor H Decreased level of thrombomodulin Encephalopathy Short stature Myalgia Trifascicular block Restrictive heart failure Late-onset proximal muscle weakness Dehydration Progressive muscle weakness Neonatal sepsis Cardiac arrest Tachypnea Infantile muscular hypotonia Rhabdomyolysis Abnormal levels of creatine kinase in blood Hyporeflexia of lower limbs Right ventricular cardiomyopathy Hepatic encephalopathy Exercise-induced myoglobinuria Left bundle branch block Cold-induced muscle cramps



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