Cardiomyopathy, and Elevated hepatic transaminase

Diseases related with Cardiomyopathy and Elevated hepatic transaminase

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


Top matches:

Medium match SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY


Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (OMIM ).

SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY Is also known as interstitial lung and liver disease|pap, reunion island type|pulmonary alveolar proteinosis, reunion island type|hereditary pulmonary alveolar proteinosis with hepatic involvement

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Vomiting
  • Encephalopathy
  • Jaundice


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY

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 COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9


Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9 Is also known as coxpd9

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9

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Other less relevant matches:

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 BECKER MUSCULAR DYSTROPHY


Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.

BECKER MUSCULAR DYSTROPHY Is also known as bmd|becker dystrophinopathy

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Arrhythmia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about BECKER MUSCULAR DYSTROPHY

Medium match DPM3-CDG


DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).

DPM3-CDG Is also known as cdg1(dpm3)|cdg syndrome type io|cdg1o|carbohydrate deficient glycoprotein syndrome type io|congenital disorder of glycosylation type io|cdgio|cdg io|congenital disorder of glycosylation type 1o|cdg-io

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Cardiomyopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DPM3-CDG

Low match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

Low match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM


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

Low match CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY


Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.

CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY Is also known as l-cpti deficiency|hepatic carnitine palmitoyl transferase i deficiency|carnitine palmitoyl transferase ia deficiency|hepatic carnitine palmitoyl transferase 1 deficiency|l-cpt1 deficiency|cpt1a deficiency

Related symptoms:

  • Seizures
  • Muscular hypotonia
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY

Low 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Elevated hepatic transaminase

Symptoms // Phenotype % cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Hypoglycemia Uncommon - Between 30% and 50% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
Reduced tendon reflexes Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dilated cardiomyopathy Arrhythmia Fatigue Muscle weakness Muscular hypotonia Cardiomegaly Seizures Hepatic failure Lethargy

Rare Symptoms - Less than 30% cases


Congestive heart failure Pes planus Increased serum iron Coma Hyperammonemia Skeletal muscle atrophy Ventricular hypertrophy Pain Muscular dystrophy Encephalopathy Loss of consciousness Sudden cardiac death Exercise intolerance Vomiting Calf muscle hypertrophy Cirrhosis Increased serum ferritin Anemia Abnormality of the liver Hepatic steatosis Myopathy Increased serum lactate Hyperpigmentation of the skin Lymphopenia Macrovesicular hepatic steatosis Dicarboxylic aciduria Respiratory arrest Purpura Impotence Hypoketotic hypoglycemia Respiratory distress Fever Neutropenia Aciduria Arthritis Hyperhidrosis Acidosis Nausea and vomiting Amenorrhea Behavioral abnormality Hypogonadotrophic hypogonadism Metabolic acidosis Hypoglycemic encephalopathy Intellectual disability, mild Abnormality of metabolism/homeostasis Lactic acidosis Sinus tachycardia Increased muscle fatiguability Abnormality of lipid metabolism Neurodevelopmental delay Hyperlipidemia Hepatic fibrosis Left ventricular hypertrophy Hypertriglyceridemia Full cheeks Broad nasal tip Distal amyotrophy Thin vermilion border Peripheral axonal neuropathy Neurological speech impairment Deeply set eye Thin upper lip vermilion Hepatosplenomegaly Midface retrusion Immunodeficiency Abdominal pain Motor delay Depressed nasal bridge Growth delay Short stature Transient hyperlipidemia Renal tubular acidosis Hemiplegia/hemiparesis Arthralgia Proximal muscle weakness Decreased sialylation of O-linked protein glycosylation Feeding difficulties Myotonia Ventricular arrhythmia Muscle cramps Falls Myalgia Difficulty walking Abnormality of iron homeostasis Hypogonadism Splenomegaly Hyperalaninemia Dyspnea Failure to thrive Difficulty climbing stairs Global developmental delay Decreased activity of mitochondrial respiratory chain Microvesicular hepatic steatosis Abnormality of mitochondrial metabolism Paralysis Respiratory tract infection Headache Hepatic encephalopathy Abnormality of the gastrointestinal tract Acute hepatic failure Abnormality of the coagulation cascade Jaundice Toe walking Rhabdomyolysis Abnormality of skeletal muscle fiber size Waddling gait Elevated creatine kinase after exercise Abnormal isoelectric focusing of serum transferrin Hypoglycosylation of alpha-dystroglycan Muscle fiber necrosis Type I transferrin isoform profile Pelvic girdle muscle weakness Muscle fiber splitting Stroke-like episode Rimmed vacuoles Skeletal muscle hypertrophy Increased variability in muscle fiber diameter Intellectual disability, profound Chest pain Myoglobinuria Stroke Babinski sign Reduced muscle dystrophin expression Distal upper limb muscle weakness Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Calf muscle pseudohypertrophy Abnormal urinary color Hand muscle weakness Proximal muscle weakness in lower limbs Abnormality of the lower limb Limb-girdle muscle weakness Increased hepatic glycogen content



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Nephrolithiasis, related diseases and genetic alterations Abnormality of the skeletal system and Astigmatism, related diseases and genetic alterations Delayed speech and language development and Interphalangeal joint contracture of finger, related diseases and genetic alterations Depressed nasal bridge and Sloping forehead, related diseases and genetic alterations

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