Hepatomegaly, and Dilated cardiomyopathy

Diseases related with Hepatomegaly and Dilated cardiomyopathy

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 10; LVNC10

The severe infantile 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 early-onset form of the disease.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM Is also known as cpt2, severe infantile form|cptii, severe infantile form|carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia|carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|cpt2, hepatocardiomuscular form|cptii, hepatoc

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Respiratory distress
  • Cardiomyopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

Other less relevant matches:

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

Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

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

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Dilated cardiomyopathy

Symptoms // Phenotype % cases
Cardiomyopathy Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Dilated cardiomyopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Arrhythmia Encephalopathy Seizures Generalized hypotonia Lethargy Cardiomegaly Elevated hepatic transaminase Muscular hypotonia Hepatosplenomegaly Hypertrophic cardiomyopathy Vomiting Hypoketotic hypoglycemia Peripheral neuropathy Abnormality of the liver Failure to thrive Rhabdomyolysis Respiratory distress Hepatic steatosis Hyperammonemia Coma Metabolic acidosis Pain Hypoglycemia Acidosis

Rare Symptoms - Less than 30% cases

Hepatic failure Abdominal pain Myalgia Cognitive impairment Left ventricular hypertrophy Skeletal muscle atrophy Behavioral abnormality Dystonia Splenomegaly Muscular dystrophy Hypertension Dyspnea Cirrhosis Growth delay Irritability Sudden cardiac death Decreased liver function Exercise intolerance Decreased plasma carnitine Decreased fetal movement Feeding difficulties Feeding difficulties in infancy Proximal muscle weakness Portal hypertension Respiratory arrest Lactic acidosis Ventricular hypertrophy Global developmental delay Respiratory failure Ataxia Myoclonus Optic atrophy Visual impairment Flexion contracture Fever Dicarboxylic aciduria Difficulty climbing stairs Myopathic facies Akinesia Waddling gait Exertional dyspnea Fetal akinesia sequence Limb-girdle muscular dystrophy Reduced tendon reflexes Esophageal varix Generalized edema Hepatic fibrosis Hydrops fetalis Tubulointerstitial fibrosis Hyperhidrosis Arthrogryposis multiplex congenita Ascites Loss of consciousness Cardiac arrest Muscle stiffness Tachypnea Pericardial effusion Drowsiness Myoglobinuria Cardiorespiratory arrest Exercise-induced myalgia Nonketotic hypoglycemia Limb muscle weakness Exercise-induced myoglobinuria Hepatocellular necrosis Exercise-induced rhabdomyolysis Talipes equinovarus Edema Hyporeflexia Polyhydramnios Difficulty walking Hyperlordosis Limb joint contracture Epileptic encephalopathy Intrauterine growth retardation Recurrent hypoglycemia Bradycardia Delayed gross motor development Easy fatigability Decreased muscle mass Neck muscle weakness Ketonuria Excessive daytime somnolence Skeletal myopathy Confusion Endocardial fibroelastosis Fasting hypoglycemia Generalized tonic-clonic seizures with focal onset Acute encephalopathy Reye syndrome-like episodes Impaired gluconeogenesis Reduced muscle carnitine level Irregular respiration Clumsiness Respiratory tract infection Tremor Ragged-red muscle fibers Ventriculomegaly Patent ductus arteriosus Neonatal hypotonia Aciduria Peripheral axonal neuropathy Increased serum lactate Sensorimotor neuropathy Severe muscular hypotonia Patent foramen ovale Recurrent respiratory infections Apathy Optic neuropathy Severe lactic acidosis Decreased activity of mitochondrial complex I Concentric hypertrophic cardiomyopathy Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex IV Fatigue Respiratory insufficiency Hyperactivity Muscle cramps Anemia Leukocytosis Progressive proximal muscle weakness Severe failure to thrive Recurrent pharyngitis Pyelonephritis Gastrointestinal inflammation Pharyngitis Dysarthria Progressive muscle weakness Absent speech Depressivity Areflexia Pneumonia Anxiety Spasticity Ichthyosis Dyskinesia Psoriasiform dermatitis Eczema Generalized-onset seizure Scoliosis Leukodystrophy Poor head control Malnutrition Hyperglycinemia Decreased activity of mitochondrial respiratory chain Decreased activity of the pyruvate dehydrogenase complex Nonketotic hyperglycinemia Oliguria Lymphadenopathy Pulmonary edema Ptosis Immunodeficiency Recurrent infections Abnormal myocardium morphology Developmental regression Left ventricular noncompaction cardiomyopathy Left ventricular noncompaction Chorea Atrial fibrillation Autistic behavior Increased serum iron Azoospermia Nausea and vomiting Impotence Arthropathy Generalized hyperpigmentation Increased serum ferritin Congenital hepatic fibrosis Abnormality of iron homeostasis Hyperpigmentation of the skin Abnormality of the anterior pituitary Elevated transferrin saturation Abnormality of endocrine pancreas physiology Hypoglycemic encephalopathy Atrial septal defect Abnormality of extrapyramidal motor function Autism Macrovesicular hepatic steatosis Hypogonadotrophic hypogonadism Amenorrhea Aspiration Personality disorder EMG abnormality Obsessive-compulsive behavior Abnormality of the musculature Syncope Aspiration pneumonia Motor axonal neuropathy Acanthocytosis Tics Abetalipoproteinemia Infertility Phonic tics Tachycardia Osteoporosis Hypogonadism Diabetes mellitus Ventricular flutter Arthritis Delayed puberty Decreased carnitine level in liver


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Tetralogy of Fallot, related diseases and genetic alterations Intellectual disability, severe and Ventriculomegaly, related diseases and genetic alterations