Leukemia, and Generalized tonic-clonic seizures

Diseases related with Leukemia and Generalized tonic-clonic seizures

In the following list you will find some of the most common rare diseases related to Leukemia and Generalized tonic-clonic seizures that can help you solving undiagnosed cases.

Top matches:

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Other less relevant matches:

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

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

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM Is also known as issd|sialuria, finnish type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8

Related symptoms:

  • Seizures
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures
  • Febrile seizures
  • Absence seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14; EIG14

Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with IGE, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of EIG, see {600669}.For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.For a general phenotypic description and a discussion of genetic heterogeneity of EJM, see {254770}.

Related symptoms:

  • Seizures
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures
  • Focal-onset seizure
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10

Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see {600669}).For a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}.For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 (OMIM ) and JME (OMIM ), respectively.

Related symptoms:

  • Seizures
  • Generalized tonic-clonic seizures
  • Febrile seizures
  • Cutaneous photosensitivity
  • Absence seizures


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13

Top 5 symptoms//phenotypes associated to Leukemia and Generalized tonic-clonic seizures

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized myoclonic seizures Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Leukemia and Generalized tonic-clonic seizures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Severe global developmental delay Nystagmus Growth delay Short stature Ataxia Thrombocytopenia Strabismus Absence seizures Febrile seizures Depressed nasal bridge Edema

Rare Symptoms - Less than 30% cases

Focal-onset seizure Cerebellar atrophy Failure to thrive Neoplasm Micrognathia Cleft palate Cataract Clumsiness Rigidity Anteverted nares Hydrocephalus Progressive cerebellar ataxia Mental deterioration Delayed speech and language development Intellectual disability, severe Cerebellar hypoplasia Agenesis of corpus callosum Brachycephaly Focal impaired awareness seizure Scoliosis Hepatosplenomegaly Abnormality of the skeletal system Malar flattening Generalized hypotonia Hypertelorism Kyphosis Dystonia Lower limb hyperreflexia Acute lymphoblastic leukemia Vacuolated lymphocytes Ventricular septal defect Myoclonus Menorrhagia Bone pain Abnormal bleeding Syncope Cyanosis Pancytopenia Pulmonary arterial hypertension Epistaxis Intention tremor Progressive neurologic deterioration Decreased body weight Hydrops fetalis Hepatomegaly Increased bone mineral density Lymphopenia Myopia Osteolysis Dysphagia Oculomotor apraxia Leukopenia Increased susceptibility to fractures Hypoalbuminemia Gait disturbance Cholelithiasis Portal hypertension Abnormality of the thorax Clubbing Tremor Fatigue Neurodegeneration Abdominal distention Pallor Osteoporosis Dyspnea Dementia Recurrent respiratory infections Osteopenia Difficulty walking Delayed skeletal maturation Proteinuria Aggressive behavior Arrhythmia Encephalopathy Depressivity Splenomegaly Abnormal pyramidal sign Ascites Corneal opacity Ophthalmoplegia Congestive heart failure Malabsorption Delayed puberty Hypertonia Abnormality of eye movement Diarrhea Lymphadenopathy Cirrhosis Hematuria Abdominal pain Vomiting Pulmonary fibrosis Abnormal heart valve morphology Increased antibody level in blood Tetraparesis Oligosacchariduria Visceromegaly Thickened calvaria Athetosis Spastic tetraparesis Exotropia Inability to walk Visual impairment Coarse facial features Abnormality of metabolism/homeostasis Dysarthria Spasticity Muscular hypotonia Sleep myoclonus Aspartylglucosaminuria Cerebral atrophy Abnormality of ion homeostasis Progressive visual loss Intracellular accumulation of autofluorescent lipopigment storage material Restlessness Hyperactive deep tendon reflexes Broad-based gait Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Psychosis Nevus Visual loss Neurological speech impairment Irritability Developmental regression EEG abnormality Autism Reduced visual acuity Abnormality of the acoustic reflex Cardiac valve calcification Opisthotonus Exertional dyspnea Vertebral compression fractures Slow saccadic eye movements Thoracic kyphosis Hepatocellular carcinoma Aseptic necrosis Increased neuronal autofluorescent lipopigment Bulbar palsy Supranuclear gaze palsy Abnormality of the sternum Abnormal retinal morphology Pericardial effusion Interstitial pulmonary abnormality Restrictive ventilatory defect Petechiae Cow milk allergy Multiple myeloma Horizontal supranuclear gaze palsy Aortic valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Orthopnea Mitral valve calcification Abnormal saccadic eye movements Spontaneous hematomas Abnormal myocardium morphology Abnormal thrombosis Generalized osteosclerosis Astrocytosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Hypercoagulability Phocomelia Axial malrotation of the kidney Feeding difficulties in infancy Dandy-Walker malformation Renal cyst Wide nose Muscular dystrophy Small for gestational age Postnatal growth retardation High forehead Oligohydramnios Micropenis Upslanted palpebral fissure Posteriorly rotated ears Clinodactyly Hypospadias Midface retrusion Amenorrhea Ambiguous genitalia Long philtrum Severe intrauterine growth retardation Triangular mouth Rhabdomyosarcoma Short sternum Mild microcephaly Acute leukemia Multiple renal cysts Combined immunodeficiency Intellectual disability, profound Bifid scrotum Nephroblastoma Limb-girdle muscular dystrophy Myelodysplasia Sarcoma Hyperpigmentation of the skin Primary amenorrhea Immunodeficiency Short nose Premature chromatid separation Umbilical hernia Mild short stature Foot dorsiflexor weakness Gingival overgrowth Recurrent otitis media Eczema Neutropenia Skeletal dysplasia Short 4th metacarpal Polydactyly Prominent forehead Pes cavus Abnormality of the dentition Frontal bossing Macrocephaly Upper limb undergrowth Abnormality of chromosome segregation Short neck Abnormal facial shape Ventriculomegaly Intrauterine growth retardation Wide nasal bridge Epicanthus Low-set ears Cryptorchidism Microcephaly Short 5th metacarpal Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Cerebral hypoplasia Embryonal rhabdomyosarcoma Shoulder muscle hypoplasia Allergy Pancreatic cysts Cavum septum pellucidum Aplasia of the uterus Fused cervical vertebrae Seborrheic dermatitis Patellar aplasia Delayed CNS myelination Carpal bone hypoplasia Aplastic anemia Duodenal atresia Chromosome breakage Cardiorespiratory arrest Patellar dislocation Carpal synostosis Fibular aplasia Lateral clavicle hook Megalocornea Aplasia/hypoplasia of the humerus Tetraphocomelia Lactose intolerance Edema of the dorsum of feet Tibial torsion Amegakaryocytic thrombocytopenia Nevus flammeus of the forehead Edema of the dorsum of hands Generalized tonic-clonic seizures with focal onset Intermittent thrombocytopenia Renal malrotation Bilateral radial aplasia Meckel diverticulum Abnormality of the shoulder Aplasia/Hypoplasia of the ulna Cervical ribs Nevus flammeus Absent radius Hypodysplasia of the corpus callosum Pneumonia Hip dislocation Finger syndactyly Abnormal cardiac septum morphology Abnormality of the kidney Cleft lip Glaucoma Clinodactyly of the 5th finger Intestinal malrotation Abnormal heart morphology Atrial septal defect Talipes equinovarus Motor delay Ptosis Sensorineural hearing impairment Hearing impairment Sepsis Decreased antibody level in blood Intracranial hemorrhage Horseshoe kidney Hypoplasia of the radius Genu varum Eosinophilia Adducted thumb Hemangioma Coxa valga Spina bifida Tetralogy of Fallot Short phalanx of finger Left ventricular hypertrophy Broad thumb Cerebellar vermis hypoplasia Blue sclerae Ventricular hypertrophy Coarctation of aorta Cutaneous photosensitivity


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