Cardiomyopathy, and Jaundice

Diseases related with Cardiomyopathy and Jaundice

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Jaundice 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 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

Medium match LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY


A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.

LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lcad

Related symptoms:

  • Generalized hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Myopathy
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

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Other less relevant matches:

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

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 TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

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

Medium match CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME


Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

Medium match ALG1-CDG


ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

Medium match COG7-CDG


COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Jaundice

Symptoms // Phenotype % cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Seizures 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 Jaundice. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cholelithiasis Muscle weakness Fatigue Hepatosplenomegaly Generalized hypotonia Elevated hepatic transaminase Vomiting Muscular hypotonia Peripheral neuropathy Cerebral atrophy Areflexia Microcephaly Diarrhea Respiratory insufficiency Abnormality of immune system physiology Abnormality of the liver Myopathy Feeding difficulties Global developmental delay Failure to thrive Hepatic failure Abnormality of coagulation Hemolytic anemia Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases


Growth delay Blindness Micrognathia Respiratory failure Lethargy Neuronal loss in central nervous system Hypertension Polycythemia Nonspherocytic hemolytic anemia Hyperammonemia Recurrent infections Dystonia Fever Congestive heart failure Pain Thrombocytopenia Gait disturbance Tremor Polyneuropathy Irritability Pallor Postural instability Acute hepatic failure Reticulocytosis Hepatic encephalopathy Portal hypertension Flexion contracture Limb muscle weakness Cirrhosis Hypoglycemia Exercise-induced myoglobinuria Hepatic steatosis Gastrointestinal hemorrhage Encephalopathy Myalgia Hypertonia Hyperbilirubinemia Ascites Rickets of the lower limbs Dysmetria Renal tubular dysfunction Self-mutilation Enlarged kidney Neurodegeneration Hepatocellular carcinoma Parkinsonism Gliosis Areflexia of lower limbs Bradykinesia Abnormality of extrapyramidal motor function Decreased liver function Sensorimotor neuropathy Axonal degeneration Neoplasm of the liver Hypophosphatemic rickets Paralytic ileus Dysarthria Elevated urinary delta-aminolevulinic acid Hepatic necrosis Hypermethioninemia Episodic peripheral neuropathy Elevated alpha-fetoprotein Paraparesis Renal Fanconi syndrome Ataxia Hypertyrosinemia Pneumonia Ileus Pancreatic islet-cell hyperplasia Difficulty walking Rigidity Abnormality of the abdominal wall Abnormality of movement Generalized aminoaciduria Periodic paralysis Abnormal glycosylation Lower limb muscle weakness Truncal ataxia Cholestasis Spastic paraparesis Abnormality of the amniotic fluid Inverted nipples Intrauterine growth retardation Edema Cerebellar atrophy Hypogonadism Cerebral cortical atrophy Thin vermilion border Nephropathy Nephrotic syndrome Large fontanelles Nonimmune hydrops fetalis Type I transferrin isoform profile Budd-Chiari syndrome Intellectual disability Short neck Behavioral abnormality Abnormal heart morphology Proteinuria Abnormality of the pinna Arthrogryposis multiplex congenita Flat face Protruding tongue Adducted thumb Thick vermilion border Delayed myelination Dehydration Hypertelorism Abnormality of divalent inorganic cation homeostasis Dysdiadochokinesis Poor fine motor coordination Emotional lability Toe walking Steppage gait Axonal loss Limb dystonia Generalized dystonia Action tremor Hypomimic face Esophageal varix Premature skin wrinkling Astrocytosis Prolonged prothrombin time Distal arthrogryposis Abnormal transferrin saturation Rickets Abnormal myelination Hyperglycinemia Micronodular cirrhosis Unconjugated hyperbilirubinemia Vitamin E deficiency Abnormal globus pallidus morphology Abnormal basal ganglia MRI signal intensity Abnormality of amino acid metabolism Pica Decreased serum ferritin Increased total iron binding capacity Copper accumulation in liver Echolalia Optic disc pallor Glomerulosclerosis Exercise intolerance Elevated creatine kinase after exercise Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Mild expressive language delay Elevated serum creatine phosphokinase Arthritis Corneal opacity Nausea and vomiting Nausea Muscle cramps Cerebral visual impairment Easy fatigability Exercise-induced rhabdomyolysis Myoglobinuria Gout Dark urine Increased total bilirubin Gastric ulcer Exercise-induced muscle cramps Increased muscle glycogen content Reduced erythrocyte 2,3-diphosphoglycerate concentration Delayed skeletal maturation Osteoporosis Osteopenia Hepatocellular necrosis Nonketotic hypoglycemia Skin ulcer Autistic behavior Abnormality of the coagulation cascade Abnormality of the gastrointestinal tract Short stature Headache Erythema Delayed puberty Palpitations Autoimmune hemolytic anemia Spherocytosis Elliptocytosis Erythroid hypoplasia Generalized muscle weakness Dicarboxylic aciduria Sudden cardiac death Cardiac arrest Muscle stiffness Tachypnea EMG: myopathic abnormalities Prolonged QT interval Prolonged neonatal jaundice Fatigable weakness Hypothermia Atrial flutter Decreased plasma carnitine Hepatitis Hypogonadotrophic hypogonadism Nephrocalcinosis Normochromic anemia Oligohydramnios Intention tremor Involuntary movements Progressive muscle weakness Respiratory insufficiency due to muscle weakness Decreased nerve conduction velocity Macrocytic anemia Diaphragmatic paralysis Normocytic anemia Cholecystitis Abnormal posturing Unsteady gait Chronic hemolytic anemia Congenital hemolytic anemia Central nervous system degeneration Neoplasm Renal insufficiency Dilatation Carcinoma Paralysis Abnormal bleeding Aciduria Peripheral demyelination Dyskinesia Abnormal pyramidal sign Venous thrombosis Hypochromic anemia Reduced bone mineral density Microcytic anemia Osteomalacia Abnormality of the skull Anisocytosis Anemia of inadequate production Poikilocytosis Hypochromic microcytic anemia Decreased mean corpuscular volume Portal fibrosis Abnormal hemoglobin Abnormality of temperature regulation Respiratory tract infection Abnormality of iron homeostasis Reduced beta/alpha synthesis ratio Spasticity Motor delay Hyperreflexia Skeletal muscle atrophy Respiratory distress Kyphosis Hyporeflexia Babinski sign Recurrent respiratory infections Mild proteinuria



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