Anemia, and Epileptic encephalopathy

Diseases related with Anemia and Epileptic encephalopathy

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


Top matches:

Medium match CAD-CDG


CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.

CAD-CDG Is also known as cdg syndrome type iz|cdg-iz|congenital disorder of glycosylation, type iz, formerly|congenital disorder of glycosylation type 1z|carbohydrate deficient glycoprotein syndrome type iz|cdg1z|cdg1z, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAD-CDG

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11


COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Low match ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY


Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.

ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY Is also known as glut1-ds|glucose transport defect, blood-brain barrier|glut-1 deficiency syndrome|de vivo disease|glucose transporter type 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY

Low match EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY


Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death.

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY Is also known as early infantile epileptic encephalopathy with suppression-bursts|ohtahara syndrome|eiee

Related symptoms:

  • Seizures
  • Encephalopathy
  • Generalized myoclonic seizures
  • Focal-onset seizure
  • Epileptic encephalopathy


SOURCES: ORPHANET MENDELIAN

More info about EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Febrile seizures
  • Epileptic encephalopathy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19

Low match GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3


Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 3, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years, whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999). Mutation in the GABRG2 gene can also cause childhood absence epilepsy (ECA2 ).Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3 Is also known as gefs+3|gefs+, type 3

Related symptoms:

  • Seizures
  • Encephalopathy
  • Myoclonus
  • Generalized tonic-clonic seizures
  • Focal-onset seizure


SOURCES: OMIM MESH MENDELIAN

More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3

Top 5 symptoms//phenotypes associated to Anemia and Epileptic encephalopathy

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Encephalopathy Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Status epilepticus Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Myoclonus

Uncommon Symptoms - Between 30% and 50% cases


Generalized myoclonic seizures Intellectual disability Microcephaly Hyperreflexia Acidosis Cerebral atrophy Hypoplasia of the corpus callosum Feeding difficulties Cerebral cortical atrophy Generalized tonic-clonic seizures Increased serum lactate Muscular hypotonia of the trunk Delayed speech and language development Hypsarrhythmia Hearing impairment Atonic seizures Absence seizures Focal-onset seizure

Rare Symptoms - Less than 30% cases


Absent speech Lactic acidosis Cerebellar atrophy Epileptic spasms Postnatal microcephaly Thrombocytopenia Babinski sign Apnea Abnormality of the eye EEG abnormality Spasticity Gliosis Short neck Breech presentation Neuronal loss in central nervous system Failure to thrive Hypertonia Delayed myelination Abnormality of eye movement Hemiparesis Lethargy Progressive microcephaly Neonatal hypotonia CNS hypomyelination Respiratory failure Hepatomegaly Hemiclonic seizures Febrile seizures Strabismus Wide mouth Behavioral abnormality Autism Poor speech Abnormal facial shape Wide nasal bridge Broad-based gait Autistic behavior Developmental regression Visual impairment Downturned corners of mouth Renal tubular acidosis Global brain atrophy Cerebral visual impairment Hypertelorism Overfolded helix Widely spaced teeth Deep philtrum Elevated alkaline phosphatase Redundant skin Scaling skin Duplicated collecting system Hemoglobinuria Cardiorespiratory arrest Seborrheic dermatitis Large for gestational age High anterior hairline Prominent occiput Infantile spasms Absent septum pellucidum Central hypotonia Pierre-Robin sequence Developmental stagnation Growth delay Multicystic kidney dysplasia Sepsis Retrognathia Coarse facial features Stroke Ichthyosis Cirrhosis Hepatic failure Short distal phalanx of finger Wide nose Hemolytic anemia Vesicoureteral reflux Gingival overgrowth Webbed neck Microdontia Overgrowth Limb undergrowth Generalized-onset seizure Small nail Micronodular cirrhosis Large fontanelles Hyperammonemia Tall stature Inflammatory abnormality of the skin Ataxia Triangular mouth Drowsiness Choreoathetosis Involuntary movements Muscle stiffness Sleep apnea Hyperkinesis Incoordination Slurred speech Focal impaired awareness seizure Language impairment Central apnea Cyanosis Paroxysmal dyskinesia Paroxysmal dystonia Atypical absence seizures Abnormal erythrocyte morphology Extrapyramidal dyskinesia Generalized hyperreflexia Hypoglycorrhachia Paroxysmal involuntary eye movements Paroxysmal lethargy Apraxia Specific learning disability Alveolar ridge overgrowth Headache Olfactory lobe agenesis Birth length greater than 97th percentile Abnormality of the pons Narrow mouth Cognitive impairment Dysarthria Fatigue Intellectual disability, severe Dystonia Abnormality of metabolism/homeostasis Brain atrophy Difficulty walking Intellectual disability, moderate Mental deterioration Paralysis Abnormality of movement Confusion Falls Dyskinesia Sleep disturbance Chorea Polyhydramnios Patent ductus arteriosus Micropenis High-pitched cry Metabolic acidosis Premature birth Leukopenia Cryptorchidism Abnormality of the coagulation cascade Excessive salivation Moderate global developmental delay Fetal distress Abnormality of the amniotic fluid Hypoargininemia Myopia 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 Abnormality of arginine metabolism Unsteady gait Feeding difficulties in infancy Peripheral neuropathy Abnormal cardiac septum morphology Ventriculomegaly Delayed ability to walk Obsessive-compulsive behavior Neutropenia Astigmatism Synophrys Hypermetropia Spastic paraplegia Paraplegia Thin upper lip vermilion Downslanted palpebral fissures Aminoaciduria Ragged-red muscle fibers Atrophy/Degeneration affecting the brainstem Diffuse cerebral atrophy Abnormality of the mitochondrion Generalized aminoaciduria Type 2 muscle fiber atrophy Mitochondrial encephalopathy Epilepsia partialis continua Hypoglycemia Hypertension Nystagmus Upslanted palpebral fissure Macrocephaly Acanthocytosis Tongue fasciculations Microvesicular hepatic steatosis Micrognathia Cleft palate Anisocytosis Flexion contracture High palate Depressed nasal bridge Anteverted nares Hypoventilation Atrial septal defect Short nose Long philtrum Malar flattening Obesity Enlarged cisterna magna Pneumonia Cerebellar hypoplasia Posteriorly rotated ears Increased CSF lactate Hyperkalemia Respiratory insufficiency Abnormality of the foot Cardiomyopathy Myopathy Renal insufficiency Areflexia Hyporeflexia Schistocytosis Anisopoikilocytosis Abnormal glycosylation Arthrogryposis multiplex congenita Hepatic steatosis Hyponatremia Renal cyst Normocytic anemia Renal hypoplasia Poikilocytosis Renal dysplasia Decreased liver function Fasciculations Severe muscular hypotonia Chronic kidney disease Failure to thrive in infancy Pachygyria



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