Anemia, and EEG abnormality

Diseases related with Anemia and EEG abnormality

In the following list you will find some of the most common rare diseases related to Anemia and EEG abnormality 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 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 BLOOD GROUP, MN; MN


MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. 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. Antigens of the Ss blood group (OMIM ) reside on GYPB, and 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 or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. 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, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

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Other less relevant matches:

Low match HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA


Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA

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 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM


3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form

3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM Is also known as phgdh deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM

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

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14


Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14 Is also known as coxpd14

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14

Low match PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES


Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.

PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES Is also known as pyridoxamine 5'-phosphate oxidase deficiency|seizures, pyridoxine-resistant, plp-sensitive|pnpo deficiency|pyridoxal phosphate-dependent seizures|epileptic encephalopathy, neonatal, pnpo-related|pnpo-related neonatal epileptic encephalopathy|pyridoxamine

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES

Top 5 symptoms//phenotypes associated to Anemia and EEG abnormality

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Microcephaly 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 EEG abnormality. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Myoclonus Metabolic acidosis Hypsarrhythmia Hyperreflexia Intellectual disability Generalized myoclonic seizures Epileptic encephalopathy Status epilepticus Nystagmus

Rare Symptoms - Less than 30% cases


Feeding difficulties Wide nasal bridge Cerebral atrophy Neoplasm Hypertonia Autism Irritability Generalized tonic-clonic seizures Autistic behavior Increased serum lactate Progressive microcephaly Encephalopathy Growth delay Visual impairment Spasticity Lactic acidosis Hypoglycemia Delayed speech and language development Recurrent hypoglycemia Organic aciduria Obsessive-compulsive behavior Cerebral visual impairment Broad-based gait Astigmatism Acute pancreatitis Delayed ability to walk Dicarboxylic aciduria Enlarged cisterna magna Glutaric aciduria Neutropenia Downturned corners of mouth Decreased plasma carnitine Abnormal cardiac septum morphology Synophrys Hypermetropia Wide mouth Nonketotic hypoglycemia Thin upper lip vermilion 3-Methylglutaric aciduria Increased level of hippuric acid in urine Increased level of 3-hydroxy-3-methylglutaric acid in urine Behavioral abnormality Hypertelorism Strabismus Downslanted palpebral fissures Myopia Abnormal facial shape Cryptorchidism Hearing impairment Gliosis Ventriculomegaly Hemiclonic seizures Leukopenia CNS hypomyelination Abnormality of the coagulation cascade Global brain atrophy Excessive salivation Moderate global developmental delay Fetal distress Abnormality of the amniotic fluid High-pitched cry Premature birth Hypoargininemia Decreased CSF homovanillic acid Pyridoxine-responsive sideroblastic anemia EEG with burst suppression Abnormality of histidine metabolism Abnormality of tyrosine metabolism Abnormality of glycine metabolism Low APGAR score Abnormality of threonine metabolism Hemiparesis Unsteady gait Hypoplasia of the corpus callosum Ragged-red muscle fibers Cerebellar atrophy Babinski sign Cerebral cortical atrophy Spastic paraplegia Paraplegia Ketonuria Neuronal loss in central nervous system Aminoaciduria Atrophy/Degeneration affecting the brainstem Abnormality of eye movement Diffuse cerebral atrophy Abnormality of the mitochondrion Generalized aminoaciduria Type 2 muscle fiber atrophy Mitochondrial encephalopathy Epilepsia partialis continua Failure to thrive Muscular hypotonia of the trunk Feeding difficulties in infancy Excessive daytime somnolence Vomiting Hyperuricemia Hemolytic anemia Aggressive behavior Intellectual disability, moderate Mental deterioration Abnormality of movement Dysmetria Paresthesia Falls Dyskinesia Chorea Intellectual disability, mild Migraine Focal-onset seizure Specific learning disability Generalized-onset seizure Choreoathetosis Involuntary movements Frequent falls Lower limb spasticity Gait ataxia Dystonia Horizontal nystagmus Arrhythmia Hyperpigmentation of the skin Leukemia Hypertension Intrauterine growth retardation Ventricular septal defect Respiratory insufficiency Edema Patent ductus arteriosus Ascites Tremor Oligohydramnios Decreased liver function Pericardial effusion Extramedullary hematopoiesis Sideroblastic anemia Ataxia Muscle weakness Cognitive impairment Dysarthria Limb ataxia Absence seizures Apathy Fever Congenital cataract Decreased testicular size Spastic tetraplegia Adducted thumb Megaloblastic anemia Congenital microcephaly Cerebral dysmyelination Hepatomegaly Fatigue Hypogonadism Diarrhea Lethargy Abnormality of the cerebral white matter Coma Aciduria Dehydration Pancreatitis Hyperammonemia Postnatal growth retardation Cataract Slurred speech Episodic ataxia Hemiplegia Focal impaired awareness seizure Impulsivity Atonic seizures Hyperactive deep tendon reflexes Reticulocytosis Hand tremor Action tremor Torsion dystonia Generalized tonic-clonic seizures without focal onset Abnormality of the head Migraine without aura Limb dysmetria Paroxysmal dyskinesia Paroxysmal dystonia Jerky head movements Focal aware seizure Upper limb dysmetria Hypoglycorrhachia Abnormality of arginine metabolism



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