Cardiomyopathy, and Hepatosplenomegaly

Diseases related with Cardiomyopathy and Hepatosplenomegaly

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


Top matches:

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

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

Medium 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

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Other less relevant matches:

Medium match MCLEOD SYNDROME; MCLDS


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

Medium match ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD


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

Medium match GLYCOGEN STORAGE DISEASE IV; GSD4


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

Medium 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

Medium match PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Medium match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Medium match TYROSINEMIA TYPE 1


Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.

TYROSINEMIA TYPE 1 Is also known as hepatorenal tyrosinemia|fumarylacetoacetase deficiency|fah deficiency|fumarylacetoacetate hydrolase deficiency|tyrosinemia type i

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about TYROSINEMIA TYPE 1

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Hepatosplenomegaly

Symptoms // Phenotype % cases
Hepatomegaly Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Elevated serum creatine phosphokinase Peripheral neuropathy Dilated cardiomyopathy Elevated hepatic transaminase Hypertrophic cardiomyopathy Failure to thrive Exercise intolerance Arrhythmia Behavioral abnormality Cardiomegaly Rhabdomyolysis Irritability Anemia Pain Cirrhosis Muscular hypotonia Myalgia Growth delay Abnormality of the liver Hypoglycemia Hypertension

Rare Symptoms - Less than 30% cases


Dystonia Depressivity Skeletal muscle atrophy Seizures Areflexia Anxiety Cognitive impairment Proximal muscle weakness Muscular dystrophy Dyskinesia Dysarthria Short stature Generalized-onset seizure Decreased liver function Jaundice Diarrhea Ascites Hepatic failure Dyspnea Hypertonia Cardiac arrest Sudden cardiac death Atrial fibrillation Hepatic steatosis Vomiting Generalized hypotonia Personality disorder Acanthocytosis Motor axonal neuropathy Abnormality of the musculature Obsessive-compulsive behavior Tics Chorea Edema Immunodeficiency Hypertriglyceridemia Hepatic fibrosis Left ventricular hypertrophy Paresthesia Increased muscle fatiguability Neoplasm Fever Xanthomatosis Prominent superficial veins Abnormality of the neck Hepatic necrosis Hypermethioninemia Decreased HDL cholesterol concentration Hyperlipoproteinemia Preeclampsia Calf muscle pseudohypertrophy Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Elevated alpha-fetoprotein Loss of facial adipose tissue Eclampsia Prominent veins on trunk Abnormality of skeletal muscle fiber size Loss of gluteal subcutaneous adipose tissue Marked muscular hypertrophy Gait disturbance Dysphagia Renal Fanconi syndrome Cerebral atrophy Babinski sign Dementia Hyperhidrosis Rigidity Maternal diabetes Abnormal facial expression Oligomenorrhea Amenorrhea Insulin resistance Abnormality of the face Thin skin Primary amenorrhea Myocardial infarction Epidermal acanthosis Hirsutism Generalized hirsutism Infertility Diabetes mellitus Reduced beta/alpha synthesis ratio Abnormality of iron homeostasis Abnormality of temperature regulation Hypochromic anemia Rickets of the lower limbs Acanthosis nigricans Abnormality of the cerebral white matter Reduced subcutaneous adipose tissue Elevated urinary delta-aminolevulinic acid Insulin-resistant diabetes mellitus Hyperuricemia Secondary amenorrhea Aplasia/Hypoplasia of the skin Lipoatrophy Coronary artery atherosclerosis Pancreatitis Skeletal muscle hypertrophy Hyperglycemia Hyperinsulinemia Lipodystrophy Polycystic ovaries Paralytic ileus Atherosclerosis Mental deterioration Pancreatic islet-cell hyperplasia Abnormality of movement Orofacial dyskinesia Abnormality of coagulation Rickets Glomerulosclerosis Nephrocalcinosis Peripheral demyelination Aciduria Gastrointestinal hemorrhage Abnormal bleeding Insomnia Bipolar affective disorder Ventricular extrasystoles Left bundle branch block Supraventricular tachycardia Excessive salivation Restlessness Hyporeflexia of lower limbs Generalized limb muscle atrophy Impaired temperature sensation Abnormal social behavior Paralysis Carcinoma Dilatation Renal insufficiency Abnormal lactate dehydrogenase activity Abnormality of the astrocytes Caudate atrophy Hyporeflexia of upper limbs Abnormal corpus striatum morphology Recurrent singultus Axonal degeneration Impaired pain sensation Lower limb muscle weakness Sensorimotor neuropathy Confusion Hypertyrosinemia Blood group antigen abnormality Abnormality of the abdominal wall Hemolytic anemia Sensory neuropathy Parkinsonism Generalized aminoaciduria Memory impairment Neuronal loss in central nervous system Periodic paralysis Ileus Involuntary movements Hallucinations Sleep apnea Hepatocellular carcinoma Ventricular arrhythmia Personality changes Emotional lability Hypophosphatemic rickets Neoplasm of the liver Acute hepatic failure Ventricular fibrillation Renal tubular dysfunction Self-mutilation Sensory axonal neuropathy Bowel incontinence Enlarged kidney Portal fibrosis Impaired vibration sensation in the lower limbs Abnormal hemoglobin Akinesia Decreased mean corpuscular volume Severe failure to thrive Restrictive cardiomyopathy Albuminuria Renal amyloidosis Generalized amyloid deposition Scoliosis Ptosis Recurrent infections Lymphadenopathy Eczema Progressive muscle weakness Psoriasiform dermatitis Leukocytosis Progressive proximal muscle weakness Recurrent pharyngitis Papilledema Pyelonephritis Gastrointestinal inflammation Pharyngitis Pneumonia Myoclonus Ichthyosis Aspiration EMG abnormality Aspiration pneumonia Abetalipoproteinemia Phonic tics Atrial septal defect Encephalopathy Hyperactivity Drusen Optic neuropathy Acidosis Neurodevelopmental delay Depressed nasal bridge Motor delay Intellectual disability, mild Midface retrusion Thin upper lip vermilion Deeply set eye Peripheral axonal neuropathy Lactic acidosis Thin vermilion border Distal amyotrophy Broad nasal tip Full cheeks Ventricular hypertrophy Hyperlipidemia Abnormality of lipid metabolism Amyloidosis Sinus tachycardia Increased hepatic glycogen content Hearing impairment Abdominal pain Glaucoma Weight loss Proteinuria Skin rash Nephropathy Hematuria Polyneuropathy Nephrotic syndrome Cholestasis Urticaria Autism Autistic behavior Hypochromic microcytic anemia Osteoporosis Difficulty climbing stairs Exertional dyspnea Fetal akinesia sequence Esophageal varix Generalized edema Tubulointerstitial fibrosis Limb joint contracture Feeding difficulties Fatigue Abnormality of the skeletal system Respiratory insufficiency Thrombocytopenia Delayed skeletal maturation Osteopenia Limb-girdle muscular dystrophy Pallor Postural instability Hepatitis Skin ulcer Hypogonadotrophic hypogonadism Venous thrombosis Reduced bone mineral density Cholelithiasis Microcytic anemia Osteomalacia Abnormality of the skull Anisocytosis Anemia of inadequate production Poikilocytosis Myopathic facies Portal hypertension Lethargy Dicarboxylic aciduria Metabolic acidosis Coma Muscle cramps Muscle stiffness Tachypnea Hyperammonemia Pericardial effusion Drowsiness Myoglobinuria Cardiorespiratory arrest Hypoketotic hypoglycemia Exercise-induced myalgia Decreased plasma carnitine Respiratory arrest Nonketotic hypoglycemia Reduced tendon reflexes Exercise-induced myoglobinuria Hepatocellular necrosis Exercise-induced rhabdomyolysis Flexion contracture Talipes equinovarus Hyporeflexia Polyhydramnios Difficulty walking Hyperlordosis Arthrogryposis multiplex congenita Limb muscle weakness Waddling gait Decreased fetal movement Hydrops fetalis Episodic peripheral neuropathy



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