Anemia, and Myoclonus

Diseases related with Anemia and Myoclonus

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


Top 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 MYOSTATIN-RELATED MUSCLE HYPERTROPHY


general increase in bulk of a muscle due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells.

Related symptoms:

  • Myoclonus
  • Skeletal muscle hypertrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOSTATIN-RELATED MUSCLE HYPERTROPHY

Low match ACTION MYOCLONUS-RENAL FAILURE SYNDROME


Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.

ACTION MYOCLONUS-RENAL FAILURE SYNDROME Is also known as myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|epm4|amrf|action myoclonus-renal failure syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Anemia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACTION MYOCLONUS-RENAL FAILURE SYNDROME

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Other less relevant matches:

Low match PAROXYSMAL EXERTION-INDUCED DYSKINESIA


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

Low match ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

Low match CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE


Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.

CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE Is also known as dihydrofolate reductase deficiency|dhfr deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE

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

Low match NEUROBLASTOMA


Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Related symptoms:

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROBLASTOMA

Low match 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA


3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.

3-HYDROXY-3-METHYLGLUTARIC ACIDURIA Is also known as hydroxymethylglutaric aciduria|hmg-coa lyase deficiency|3-hydroxy-3-methylglutaryl-coa lyase deficiency|hmgcl deficiency|hl deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity
  • Anemia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA

Top 5 symptoms//phenotypes associated to Anemia and Myoclonus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized-onset seizure Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Myoclonus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Thrombocytopenia Microcephaly Tremor Generalized hypotonia Hepatomegaly

Rare Symptoms - Less than 30% cases


Cognitive impairment Intellectual disability Muscle weakness Spasticity Neoplasm EEG abnormality Postnatal microcephaly Dystonia Intellectual disability, mild Cerebral atrophy Metabolic acidosis Irritability Generalized tonic-clonic seizures Vomiting Chorea Ventriculomegaly Acidosis Action tremor Bone pain Peripheral neuropathy Cerebellar atrophy Aciduria Gait ataxia Fever Diarrhea Falls Hepatosplenomegaly Absence seizures Fatigue Dyskinesia Motor axonal neuropathy Ichthyosis Aspiration pneumonia Anxiety Dilated cardiomyopathy Muscular dystrophy Rhabdomyolysis Abnormality of the musculature Aspiration Cardiomegaly EMG abnormality Obsessive-compulsive behavior Atrial fibrillation Splenomegaly Pneumonia Eyelid myoclonus Delayed myelination Neuronal loss in central nervous system Pancytopenia Cerebellar vermis hypoplasia Poor head control Central hypotonia Megaloblastic anemia Methylmalonic aciduria Absence seizures with eyelid myoclonia Elevated serum creatine phosphokinase Skeletal muscle atrophy Cardiomyopathy Myopathy Behavioral abnormality Tics Depressivity Arrhythmia Areflexia Acanthocytosis Spinal cord compression Personality disorder Ketonuria Hypoglycemia Lethargy Abnormality of the cerebral white matter Coma Dehydration Pancreatitis Hyperammonemia Apathy Hyperuricemia Excessive daytime somnolence Elevated urinary homovanillic acid Recurrent hypoglycemia Organic aciduria Decreased plasma carnitine Acute pancreatitis Dicarboxylic aciduria Glutaric aciduria Nonketotic hypoglycemia 3-Methylglutaric aciduria Increased level of hippuric acid in urine Elevated urinary vanillylmandelic acid Elevated urinary catecholamines Abetalipoproteinemia Neuroblastoma Phonic tics Failure to thrive Pain Hypertension Abdominal pain Weight loss Cafe-au-lait spot Abnormality of the thorax Neurofibromas Jaundice Elevated urinary dopamine Skin nodule Paraganglioma Ganglioneuroma Neoplasm of the nervous system Horner syndrome Ganglioneuroblastoma Adrenal calcification Opsoclonus Abdominal mass Pallor Fetal distress Cerebellar hypoplasia Focal-onset seizure Aggressive behavior Intellectual disability, moderate Mental deterioration Abnormality of movement Dysmetria Paresthesia Hemolytic anemia Migraine Specific learning disability Nystagmus Choreoathetosis Involuntary movements Frequent falls Lower limb spasticity Limb ataxia Progressive microcephaly Horizontal nystagmus Slurred speech Hyperreflexia Mild proteinuria Focal impaired awareness seizure Nephrotic syndrome Skeletal muscle hypertrophy Dysphagia Renal insufficiency Dementia Proteinuria Unsteady gait Stage 5 chronic kidney disease Nephropathy Intention tremor Abnormal glycosylation Decreased nerve conduction velocity Hypoalbuminemia Glomerulosclerosis Postural tremor Focal segmental glomerulosclerosis Glomerulopathy Demyelinating peripheral neuropathy Normochromic anemia Hemiplegia Impulsivity Dilatation Ophthalmoplegia Abdominal distention Brain atrophy Clonus Muscle fibrillation Enterocolitis Prenatal movement abnormality Osteopenia Abnormal pyramidal sign Abnormal cerebellum morphology Apnea Spastic tetraparesis Cachexia Loss of consciousness Hypersplenism Erlenmeyer flask deformity of the femurs Elevated serum acid phosphatase Increased cerebral lipofuscin Feeding difficulties Poor speech Hypertonia Atonic seizures Paroxysmal dyskinesia Hyperactive deep tendon reflexes Reticulocytosis Hand tremor Episodic ataxia Torsion dystonia Abnormality of the head Migraine without aura Limb dysmetria Paroxysmal dystonia Hypoplasia of the corpus callosum Jerky head movements Focal aware seizure Upper limb dysmetria Hypoglycorrhachia Generalized tonic-clonic seizures without focal onset Abnormal facial shape Respiratory insufficiency Respiratory distress Increased level of 3-hydroxy-3-methylglutaric acid in urine



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