Cardiomyopathy, and Abnormality of the liver

Diseases related with Cardiomyopathy and Abnormality of the liver

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


Top matches:

Low 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

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3 Is also known as naga deficiency type 3|schindler disease type 3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3

Low 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

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Other less relevant matches:

Low 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

Low match NEPHRONOPHTHISIS 16; NPHP16


Related symptoms:

  • Cardiomyopathy
  • Renal insufficiency
  • Patent ductus arteriosus
  • Hypertrophic cardiomyopathy
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 16; NPHP16

Low 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

Low match LEFT VENTRICULAR NONCOMPACTION 10; LVNC10


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 10; LVNC10

Low match CHRONIC EOSINOPHILIC LEUKEMIA


Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Myalgia
  • Abnormality of the nervous system
  • Pruritus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EOSINOPHILIC LEUKEMIA

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV


Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Low match HEREDITARY SPHEROCYTOSIS


Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

HEREDITARY SPHEROCYTOSIS Is also known as sph|hs|minkowski-chauffard disease|hs1|spherocytosis, hereditary, 1

Related symptoms:

  • Short stature
  • Anemia
  • Fatigue
  • Abnormality of the skeletal system
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SPHEROCYTOSIS

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Abnormality of the liver

Symptoms // Phenotype % cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Congestive heart failure

Rare Symptoms - Less than 30% cases


Seizures Dyspnea Cardiomegaly Increased serum lactate Hyperbilirubinemia Reticulocytosis Headache Short stature Global developmental delay Jaundice Mastocytosis Endocardial fibrosis Myeloproliferative disorder Restrictive cardiomyopathy Left ventricular noncompaction Abnormal myocardium morphology Pulmonary edema Abnormality of the nervous system Pulmonary infiltrates Oliguria Left ventricular noncompaction cardiomyopathy Ventricular flutter Eosinophilia Myalgia Venous thrombosis Pruritus Wide anterior fontanel Hypertelorism Abnormality of the skeletal system Elliptocytosis Spherocytosis Autoimmune hemolytic anemia Cholelithiasis Palpitations Hemolytic anemia Delayed puberty Erythema Fatigue Edema Erythroid hyperplasia Congenital hypoplastic anemia Normochromic anemia Fetal distress Anemia of inadequate production Syncope Hydrops fetalis Micropenis Hypospadias Left ventricular hypertrophy Hypogonadism Tachycardia Hepatic encephalopathy Abnormality of mitochondrial metabolism Hepatic steatosis Paralysis Respiratory tract infection Autism Cataract Strabismus Intellectual disability Abnormality of the gastrointestinal tract Decreased activity of mitochondrial respiratory chain Acute hepatic failure Abnormality of the coagulation cascade Hyperammonemia Hepatic failure Lethargy Hypoglycemia Encephalopathy Vomiting Microvesicular hepatic steatosis Failure to thrive Dilated cardiomyopathy Aortic valve stenosis Respiratory distress Abnormality of iron homeostasis Increased serum iron Increased serum ferritin Cirrhosis Enlarged kidney Nephronophthisis Polycystic kidney dysplasia Situs inversus totalis Feeding difficulties Hepatic fibrosis Cholestasis Renal cyst Pulmonic stenosis Abnormality of the kidney Patent ductus arteriosus Renal insufficiency Hyperalaninemia Erythroid hypoplasia



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