Cardiomyopathy, and Hemolytic anemia

Diseases related with Cardiomyopathy and Hemolytic anemia

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


Top matches:

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

Low match HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1


Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

Low 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

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Other less relevant matches:

Low 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

Low 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

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

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 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 MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY


Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.

HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY Is also known as aconitase deficiency|iscu myopathy|iron-sulfur cluster deficiency myopathy|myopathy with deficiency of succinate dehydrogenase and aconitase|myopathy with exercise intolerance, swedish type|myoglobinuria due to abnormal glycolysis

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Respiratory distress
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY

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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Fatigue Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Reticulocytosis Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Myopathy Hypertrophic cardiomyopathy Seizures Elevated serum creatine phosphokinase Congestive heart failure Hepatomegaly Short stature Cholelithiasis Elevated hepatic transaminase Jaundice

Rare Symptoms - Less than 30% cases


Increased serum ferritin Pain Babinski sign Cirrhosis Areflexia Respiratory distress Increased serum iron Gait disturbance Abnormal lactate dehydrogenase activity Dyskinesia Neuronal loss in central nervous system Respiratory failure Purpura Arthritis Involuntary movements Peripheral neuropathy Skeletal muscle atrophy Increased muscle fatiguability Palpitations Hyperbilirubinemia Nonspherocytic hemolytic anemia Myoglobinuria Cognitive impairment Dyspnea Cerebral atrophy Edema Normochromic anemia Exercise intolerance Dystonia Muscle cramps Rhabdomyolysis Limb muscle weakness Impaired pain sensation Bowel incontinence Restlessness Insomnia Bipolar affective disorder Impaired vibration sensation in the lower limbs Cardiac arrest Sensory axonal neuropathy Chorea Rigidity Anxiety Mental deterioration Dilated cardiomyopathy Abnormality of the cerebral white matter Abnormality of movement Lower limb muscle weakness Confusion Paresthesia Sensory neuropathy Parkinsonism Memory impairment Ventricular fibrillation Generalized-onset seizure Atrial fibrillation Left ventricular hypertrophy Hallucinations Sensorimotor neuropathy Left bundle branch block Sleep apnea Ventricular arrhythmia Obsessive-compulsive behavior Personality changes Emotional lability Ventricular extrasystoles Impaired temperature sensation Motor axonal neuropathy Subsarcolemmal accumulations of abnormally shaped mitochondria Dilatation Acidosis Proximal muscle weakness Lactic acidosis Tachycardia Increased serum lactate Mitochondrial myopathy Sideroblastic anemia Decreased activity of mitochondrial complex I Increased intramyocellular lipid droplets Decreased activity of mitochondrial complex II Congenital hypoplastic anemia Decreased activity of mitochondrial complex III Abnormal iron deposition in mitochondria Abdominal pain Arthralgia Abnormality of the liver Neutropenia Amenorrhea Hyperpigmentation of the skin Lymphopenia Hypogonadotrophic hypogonadism Erythroid hyperplasia Fetal distress Supraventricular tachycardia Recurrent singultus Acanthocytosis Tics Orofacial dyskinesia Excessive salivation Hyporeflexia of lower limbs Personality disorder Generalized limb muscle atrophy Abnormal social behavior Caudate atrophy Abnormal corpus striatum morphology Blood group antigen abnormality Anemia of inadequate production Abnormal facial expression Hyporeflexia of upper limbs Abnormality of the astrocytes Neoplasm Hypogonadism Abnormality of iron homeostasis Hypertelorism Hypospadias Micropenis Hydrops fetalis Wide anterior fontanel Hepatosplenomegaly Progressive muscle weakness Hyperhidrosis Schistocytosis Acute kidney injury Elevated serum creatinine Enterocolitis Hemolytic-uremic syndrome Complement deficiency Increased blood urea nitrogen Anuria Microangiopathic hemolytic anemia Azotemia Decreased serum complement C3 Dysphasia Decreased serum complement factor B Abnormality of complement system Decreased serum complement factor I Decreased serum complement factor H Decreased level of thrombomodulin Flexion contracture Blindness Vomiting Myalgia Abnormality of blood and blood-forming tissues Hyperlipidemia Nausea and vomiting Fever Abnormality of the skeletal system Headache Erythema Delayed puberty Autoimmune hemolytic anemia Spherocytosis Elliptocytosis Erythroid hypoplasia Hypertension Diarrhea Hemiparesis Renal insufficiency Abnormality of metabolism/homeostasis Thrombocytopenia Proteinuria Stage 5 chronic kidney disease Nephropathy Hematuria Coma Hypertriglyceridemia Corneal opacity Nausea Dementia Cholecystitis Optic disc pallor Oligohydramnios Intention tremor Respiratory insufficiency due to muscle weakness Decreased nerve conduction velocity Macrocytic anemia Abnormality of immune system physiology Diaphragmatic paralysis Normocytic anemia Abnormal posturing Abnormal pyramidal sign Chronic hemolytic anemia Congenital hemolytic anemia Central nervous system degeneration Dysarthria Dysphagia Hypertonia Behavioral abnormality Depressivity Arrhythmia Unsteady gait Pallor Cerebral visual impairment Reduced erythrocyte 2,3-diphosphoglycerate concentration Easy fatigability Polycythemia Gout Dark urine Increased total bilirubin Gastric ulcer Exercise-induced muscle cramps Exercise-induced myoglobinuria Increased muscle glycogen content Global developmental delay Respiratory tract infection Generalized hypotonia Muscular hypotonia Spasticity Motor delay Hyperreflexia Tremor Kyphosis Recurrent infections Hyporeflexia Recurrent respiratory infections Impotence



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