Anemia, and Spinal muscular atrophy

Diseases related with Anemia and Spinal muscular atrophy

In the following list you will find some of the most common rare diseases related to Anemia and Spinal muscular atrophy that can help you solving undiagnosed cases.


Top matches:

Low match ISOLATED CYTOCHROME C OXIDASE DEFICIENCY


Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Low match GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY


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

Low match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

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Other less relevant matches:

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 DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Low match GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME


Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Growth delay
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME

Low match PRIMARY CD59 DEFICIENCY


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

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 DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1


Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013).Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. Genetic Heterogeneity of Hereditary StomatocytosisDehydrated hereditary stomatocytosis-2 (DHS2 ) is caused by mutation in the KCNN4 gene (OMIM ) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2 ), is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35. Cryohydrocytosis (CHC ) is caused by mutation in the SLC4A1 gene (OMIM ) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN ) is caused by mutation in the SLC2A1 gene (OMIM ) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST ) is caused by mutation in the RHAG gene (OMIM ) on chromosome 6p12.See {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome. ReviewsDelaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis (OMIM ); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 Is also known as pseudohyperkalemia, familial, 1, due to red cell leak|pshk1|dhs|dehydrated hereditary stomatocytosis|xerocytosis, hereditary|desiccytosis, hereditary|pseudohyperkalemia edinburgh

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1

Low match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Top 5 symptoms//phenotypes associated to Anemia and Spinal muscular atrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Increased serum lactate Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Spinal muscular atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Respiratory failure Myopathy Cardiomyopathy Dysarthria Hepatomegaly Lactic acidosis Generalized hypotonia Seizures

Rare Symptoms - Less than 30% cases


Myoclonus Elevated serum creatine phosphokinase Exercise intolerance Muscular dystrophy Hepatitis Myotonia Splenomegaly Rhabdomyolysis Chorea Polyneuropathy Increased intramyocellular lipid droplets Fatigue Pallor Hemoglobinuria Abnormality of the liver Anxiety Neoplasm Elevated hepatic transaminase Limb muscle weakness Peripheral neuropathy Tremor Areflexia Dystonia Hemolytic anemia Pneumonia Cognitive impairment Mitochondrial myopathy Short stature Respiratory distress Dilatation Microcephaly Scoliosis Ataxia Failure to thrive Strabismus Hypertrophic cardiomyopathy Growth delay Respiratory insufficiency Spasticity Visual impairment Motor axonal neuropathy Decreased/absent ankle reflexes Interosseus muscle atrophy Paralysis IgE deficiency Defective B cell differentiation Hyperpigmentation of the skin Delayed speech and language development Intrauterine growth retardation Hyporeflexia Intellectual disability, mild Dysmetria Acanthocytosis Macrocytic anemia Progressive spinal muscular atrophy Difficulty running Tics Abnormality of the mitochondrion Personality disorder Immunoglobulin IgG2 deficiency Depressivity Peripheral demyelination Hypoplasia of the thymus Hypopigmentation of hair Hepatocellular carcinoma Acute lymphoblastic leukemia Severe combined immunodeficiency Recurrent lower respiratory tract infections Chromosome breakage Recurrent bronchitis Renal neoplasm B-cell lymphoma Abnormality of the testis Lymphoproliferative disorder Spinocerebellar tract degeneration Absent Achilles reflex Chronic lymphatic leukemia Non-Hodgkin lymphoma Cellular immunodeficiency Abnormality of chromosome stability Conjunctival telangiectasia Chronic myelogenous leukemia Neoplasm of the breast Abetalipoproteinemia Abnormal spermatogenesis Elevated alpha-fetoprotein Decreased proportion of CD4-positive T cells Chronic hepatitis Female hypogonadism Increased sensitivity to ionizing radiation Aplasia/Hypoplasia of the thymus Mucosal telangiectasiae Hematuria Increased CSF protein Aspiration pneumonia Intermittent jaundice Limb-girdle muscular dystrophy Hyperkalemia Pericardial effusion Thromboembolism Reticulocytosis Increased serum ferritin Dilated cardiomyopathy Esophageal varix Generalized edema Spherocytosis Elliptocytosis Gastritis Stomatocytosis Hyperbilirubinemia Antiphospholipid antibody positivity Chronic hemolytic anemia Portal vein thrombosis Compensated hemolytic anemia Schistocytosis Pyropoikilocytosis Recurrent thromboembolism Increased mean corpuscular hemoglobin concentration Increased intracellular sodium Exercise-induced hemolysis Hepatosplenomegaly Arrhythmia Increased red cell hemolysis by shear stress Cholelithiasis Dehydration Abnormality of the musculature Myoglobinuria Behavioral abnormality Obsessive-compulsive behavior EMG abnormality Hemolytic-uremic syndrome Aspiration Paroxysmal nocturnal hemoglobinuria Atrial fibrillation Dyspnea Proximal muscle weakness Tachycardia Muscle cramps Palpitations Cardiomegaly Sideroblastic anemia Ascites Increased muscle fatiguability Decreased activity of mitochondrial complex I Subsarcolemmal accumulations of abnormally shaped mitochondria Decreased activity of mitochondrial complex II IgA deficiency Decreased activity of mitochondrial complex III Abnormal iron deposition in mitochondria Fever Edema Generalized-onset seizure Jaundice Dyskinesia Ichthyosis Hodgkin lymphoma Sinusitis Prematurely aged appearance Hypercalciuria Hemiparesis Progressive neurologic deterioration Progressive muscle weakness Decreased liver function Congenital hip dislocation Aminoaciduria Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Leukoencephalopathy Tachypnea Hyperammonemia Poor head control Poor suck Hemiplegia Pulmonary arterial hypertension Polydipsia Apathy Polyuria Exertional dyspnea Glycosuria Weak cry Renal tubular acidosis Progressive encephalopathy Thoracolumbar scoliosis Renal tubular dysfunction Increased CSF lactate Hyperphosphaturia Periventricular leukomalacia Status epilepticus Spastic tetraplegia Respiratory arrest Encephalopathy Global developmental delay Sensorineural hearing impairment Abnormal facial shape Muscular hypotonia Ptosis Feeding difficulties Motor delay Hypertension Hyperreflexia Optic atrophy Ventriculomegaly Vomiting Kyphosis Kyphoscoliosis Pigmentary retinopathy Proteinuria Muscular hypotonia of the trunk Apnea Irritability Hip dislocation Generalized tonic-clonic seizures Hepatic failure Hepatic steatosis Metabolic acidosis Coma Tetraplegia Generalized muscle weakness Aciduria Thoracolumbar kyphosis Microvesicular hepatic steatosis Myeloid leukemia Oculomotor apraxia Type II diabetes mellitus Pancytopenia Intention tremor Choreoathetosis Telangiectasia Bronchiectasis Limb ataxia Cafe-au-lait spot Abnormal vertebral morphology Lymphopenia Abnormality of the hair Truncal ataxia Recurrent pneumonia Reduced tendon reflexes Decreased antibody level in blood Cerebral palsy Breast carcinoma Slurred speech Polycystic ovaries Athetosis Glucose intolerance Combined immunodeficiency Premature graying of hair Resting tremor Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Telangiectasia of the skin Abnormality of the immune system Apraxia Lymphoma Hepatic encephalopathy Recurrent respiratory infections Renal Fanconi syndrome Cytochrome C oxidase-negative muscle fibers Proximal renal tubular acidosis Spastic hemiparesis Increased hepatocellular lipid droplets Hyperuricemia Increased muscle glycogen content Nystagmus Flexion contracture Gait disturbance Cerebellar atrophy Immunodeficiency Recurrent infections Diabetes mellitus Progressive cerebellar ataxia Gait ataxia Difficulty walking Carcinoma Respiratory tract infection Distal muscle weakness Leukemia Neurological speech impairment Delayed puberty Abnormality of eye movement Abnormality of movement Unsteady gait Distal amyotrophy Abnormal cerebellum morphology Phonic tics



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