Muscle weakness, and Hemolytic anemia

Diseases related with Muscle weakness and Hemolytic anemia

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

Top matches:

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

Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.

GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY Is also known as tarui disease|glycogen storage disease type 7|glycogen storage disease type vii|gsd type 7|glycogenosis type 7|glycogenosis due to muscle phosphofructokinase deficiency|gsd type vii|glycogenosis type vii|gsd due to muscle phosphofructokinase deficiency

Related symptoms:

  • Muscle weakness
  • Anemia
  • Skeletal muscle atrophy
  • Myotonia
  • Hyperuricemia


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY

Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Anemia
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY

Other less relevant matches:

Primary CD59 deficiency is a rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).

PRIMARY CD59 DEFICIENCY Is also known as cd59 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Anemia
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PRIMARY CD59 DEFICIENCY

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see {611162}) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008).

ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY Is also known as favism, susceptibility to

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Muscle weakness
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA Is also known as marchiafava-micheli disease|pnh

Related symptoms:

  • Muscle weakness
  • Fatigue
  • Dysphagia
  • Abdominal pain
  • Pallor


SOURCES: ORPHANET OMIM MENDELIAN

More info about PAROXYSMAL NOCTURNAL HEMOGLOBINURIA

Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.

GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY Is also known as glycogenosis type xii|red cell aldolase deficiency|gsd type xii|gsd type 12|gsd xii|aldolase deficiency, red cell|aldoa deficiency|gsd due to aldolase a deficiency|glycogen storage disease type 12|glycogenosis type 12|glycogen storage disease type xii|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY

Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Top 5 symptoms//phenotypes associated to Muscle weakness and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Pallor Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Nonspherocytic hemolytic anemia Hemoglobinuria Jaundice

Rare Symptoms - Less than 30% cases

Respiratory insufficiency Polyneuropathy Neoplasm Seizures Paresthesia Reticulocytosis Pain Abdominal pain Skeletal muscle atrophy Cholecystitis Splenomegaly Cholelithiasis Ataxia Delayed puberty Abnormality of movement Dysmetria Normochromic anemia Falls Dyskinesia Chorea Focal-onset seizure Migraine Specific learning disability Generalized-onset seizure Choreoathetosis Involuntary movements Frequent falls Lower limb spasticity Generalized tonic-clonic seizures Intellectual disability, moderate Irritability Dystonia Nystagmus Spasticity Cognitive impairment Hyperreflexia Dysarthria Tremor Intellectual disability, mild Mental deterioration Cerebral atrophy Myoclonus Gait ataxia EEG abnormality Aggressive behavior Limb ataxia Increased muscle fatiguability Absence seizures Progressive microcephaly Short stature Jerky head movements Focal aware seizure Upper limb dysmetria Hypoglycorrhachia Rhabdomyolysis Generalized tonic-clonic seizures without focal onset Growth delay Paroxysmal dystonia Ptosis Epicanthus Hepatomegaly Low posterior hairline Short neck Myopathy Spherocytosis Paroxysmal dyskinesia Horizontal nystagmus Hyperactive deep tendon reflexes Respiratory tract infection Slurred speech Hemiplegia Focal impaired awareness seizure Impulsivity Atonic seizures Hand tremor Limb dysmetria Normocytic anemia Global developmental delay Action tremor Episodic ataxia Torsion dystonia Abnormality of the head Migraine without aura Microcephaly Myelodysplasia Cerebral artery stenosis Diarrhea Paroxysmal nocturnal hemoglobinuria Failure to thrive Muscular hypotonia Hypertension Peripheral neuropathy Vomiting Behavioral abnormality Increased CSF protein Constipation Tachycardia Sensory neuropathy Psychosis Hemiparesis Hyponatremia Hemolytic-uremic syndrome Peripheral demyelination Respiratory paralysis Pigment gallstones Myotonia Hyperuricemia Increased muscle glycogen content Edema Hydrops fetalis Sensory ataxia Decreased glucosephosphate isomerase activity Hematuria Spontaneous hemolytic crises Impaired neutrophil bactericidal activity Areflexia Hyporeflexia Respiratory failure Paralysis Limb muscle weakness Motor axonal neuropathy Wrist drop Hypoplastic anemia Thromboembolism Abnormal bleeding Pancytopenia Pulmonary arterial hypertension Myocardial infarction Bone marrow hypocellularity Acute myeloid leukemia Pulmonary embolism Fava bean-induced hemolytic anemia Transient ischemic attack Hypercoagulability Aplastic anemia Angina pectoris Abnormal renal physiology Abnormal thrombosis Dysphagia Kernicterus Abdominal colic Meningitis Elevated urinary delta-aminolevulinic acid Fever Myalgia Cirrhosis Lymphoma Abnormality of the cardiovascular system Hyperbilirubinemia Unconjugated hyperbilirubinemia Back pain Leukocytosis Osteomyelitis Prolonged neonatal jaundice Hodgkin lymphoma Anisocytosis Poikilocytosis Hyperpigmentation of the skin


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Retinopathy, related diseases and genetic alterations Wide nasal bridge and Coarctation of aorta, related diseases and genetic alterations Ptosis and Progressive neurologic deterioration, related diseases and genetic alterations Cryptorchidism and Osteoarthritis, related diseases and genetic alterations