Congestive heart failure, and Elevated hepatic transaminase

Diseases related with Congestive heart failure and Elevated hepatic transaminase

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


Top matches:

Medium match INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY


Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.

INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY Is also known as combined oxidative phosphorylation defect type 16|coxpd16

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Headache
  • Elevated hepatic transaminase
  • Hypertrophic cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY

Medium match HEMOCHROMATOSIS, TYPE 2B; HFE2B


Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (OMIM ). HFE2 is genetically heterogeneous (see HFE2A, {602390}).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM MESH MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 2B; HFE2B

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 HEMOCHROMATOSIS TYPE 2


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

Medium match SECKEL SYNDROME 10; SCKL10


Related symptoms:

  • Short stature
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 10; SCKL10

Medium match NEUTRAL LIPID STORAGE MYOPATHY


Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Medium match SYSTEMIC PRIMARY CARNITINE DEFICIENCY


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

Medium match ACYL-COA DEHYDROGENASE 9 DEFICIENCY


Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

ACYL-COA DEHYDROGENASE 9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency|acad9 deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ACYL-COA DEHYDROGENASE 9 DEFICIENCY

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Medium match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY


Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Elevated hepatic transaminase

Symptoms // Phenotype % cases
Cardiomyopathy Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Hepatic steatosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Elevated hepatic transaminase. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dilated cardiomyopathy Myalgia Elevated serum creatine phosphokinase Failure to thrive Hypoglycemia Pain Ventricular hypertrophy Generalized hypotonia Abnormality of the liver Hypertrophic cardiomyopathy Cirrhosis Exercise intolerance Lethargy Short stature Hypertriglyceridemia Cardiomegaly Progressive muscle weakness Proximal muscle weakness Hyperammonemia Diabetes mellitus Muscular hypotonia Arrhythmia Seizures

Rare Symptoms - Less than 30% cases


Infantile muscular hypotonia Hearing impairment Hepatic failure Abdominal pain Encephalopathy Lactic acidosis Neck muscle weakness Left ventricular hypertrophy Skeletal muscle atrophy Decreased liver function Fatigue Obesity Skeletal myopathy Decreased plasma carnitine Feeding difficulties in infancy Areflexia Easy fatigability Hypoketotic hypoglycemia Hyperlipidemia Progressive proximal muscle weakness Splenomegaly Psoriasiform dermatitis Recurrent infections Immunodeficiency Respiratory tract infection Growth delay Abnormality of iron homeostasis Increased serum iron Increased serum ferritin Hypogonadism Increased serum lactate Microvesicular hepatic steatosis Decreased activity of mitochondrial respiratory chain Hypertension Edema Impaired gluconeogenesis Reye syndrome-like episodes Dicarboxylic aciduria Proximal tubulopathy Prolonged prothrombin time Cerebral edema Generalized edema Severe lactic acidosis Acute hepatic failure Fatigable weakness EMG: myopathic abnormalities Headache Sudden cardiac death Renal insufficiency Generalized muscle weakness Metabolic acidosis Reduced muscle carnitine level Paralysis Decreased activity of mitochondrial complex I Stroke Irregular respiration Acidosis Decreased carnitine level in liver Cognitive impairment Patent ductus arteriosus Depressivity Thrombocytopenia Macrovesicular hepatic steatosis Osteoporosis Generalized tonic-clonic seizures with focal onset Apnea Ketosis Recurrent corneal erosions Micronodular cirrhosis Periportal fibrosis Ketotic hypoglycemia Motor delay Peripheral neuropathy Respiratory insufficiency Small for gestational age Progressive hearing impairment Muscle cramps Pigmentary retinopathy Cholestasis Hydrops fetalis Rhabdomyolysis Myoglobinuria Abnormality of the amniotic fluid Recurrent myoglobinuria Recurrent sinusitis Sinusitis Nonketotic hypoglycemia Midface retrusion Elevated creatine kinase after exercise Increased lactate dehydrogenase activity Elevated plasma acylcarnitine levels Cerebellar hemorrhage Depressed nasal bridge Anteverted nares Intellectual disability, mild Malar flattening Thin upper lip vermilion Hepatic fibrosis Deeply set eye Carcinoma Scarring Thin vermilion border Distal amyotrophy Broad nasal tip Full cheeks Otitis media Epistaxis Acute encephalopathy Excessive daytime somnolence Fasting hypoglycemia Severe failure to thrive Micrognathia Abnormal facial shape Dilatation Severe short stature Retinal detachment Recurrent pharyngitis Microretrognathia Pyelonephritis Acanthosis nigricans Metaphyseal widening Aortic aneurysm Cone-shaped epiphysis Glucose intolerance Glycosuria Slender long bone Microcephaly Abnormality of endocrine pancreas physiology Skin tags Hyperpigmentation of the skin Pharyngitis Arthritis Gastrointestinal inflammation Delayed puberty Infertility Amenorrhea Hypogonadotrophic hypogonadism Elevated transferrin saturation Azoospermia Portal hypertension Impotence Arthropathy Generalized hyperpigmentation Congenital hepatic fibrosis Abnormality of the anterior pituitary Insulin-resistant diabetes mellitus Elevated circulating follicle stimulating hormone level Endocardial fibroelastosis Coma Feeding difficulties Fever Vomiting Recurrent respiratory infections Irritability Confusion Clumsiness Increased muscle lipid content Bradycardia Anemia Delayed gross motor development Decreased muscle mass Ketonuria Recurrent hypoglycemia Abnormality of mitochondrial metabolism Scoliosis Difficulty running Elevated circulating luteinizing hormone level Lymphadenopathy Acute pancreatitis Abdominal aortic aneurysm Elevated serum aspartate aminotransferase Elevated serum alanine aminotransferase Leukocytosis Sensorineural hearing impairment Eczema Hepatosplenomegaly Gowers sign Difficulty walking Distal muscle weakness Ichthyosis Waddling gait Insulin resistance Fasciculations Ptosis Prenatal maternal abnormality



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