Neuroblastoma, and Generalized seizures

Diseases related with Neuroblastoma and Generalized seizures

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


Top matches:

Low match NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2

NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2 Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Neoplasm
  • Arrhythmia
  • Hyperhidrosis


SOURCES: UMLS GARD MESH ORPHANET MONDO OMIM

More info about NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2

Low match EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1

Autosomal dominant lateral temporal lobe epilepsy is a specific form of temporal lobe epilepsy characterized by partial seizures originating from the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature (summary by Winawer et al., 2000). Genetic Heterogeneity of Temporal Lobe EpilepsySee also ETL2 (OMIM ), which maps to chromosome 12q; ETL3 (OMIM ), which maps to chromosome 4q; ETL4 (OMIM ), which maps to chromosome 9q; ETL5 (OMIM ), caused by mutation in the CPA6 gene (OMIM ) on chromosome 8q13; ETL6 (OMIM ), which maps to chromosome 3q25-q26; ETL7 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; and ETL8 (OMIM ), caused by mutation in the GAL gene (OMIM ) on chromosome 11q13.

EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 Is also known as epilepsy, lateral temporal lobe, autosomal dominant;adlte, epilepsy, partial, with auditory features;adpeaf;adeaf; adlte; adpeaf; autosomal dominant lateral temporal lobe epilepsy; partial epilepsy with auditory aura; partial epilepsy with auditory features

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Focal seizures
  • Febrile seizures
  • Generalized seizures


SOURCES: OMIM UMLS ORPHANET

More info about EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1

Low match HADDAD SYNDROME

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome; ondine-hirschsprung disease; ondine-hirschsprung syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Strabismus
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: ORPHANET SCTID

More info about HADDAD SYNDROME

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Other less relevant matches:

Low match CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS

Idiopathic congenital central hypoventilation syndrome, also known as 'Ondine's curse' (Deonna et al., 1974), is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. Patients breathe normally while awake, but hypoventilate with normal respiratory rates and shallow breathing during sleep; more severely affected patients hypoventilate both awake and asleep. These patients typically present in the first hours of life with cyanosis and increased carbon dioxide during sleep. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia (reviewed by Weese-Mayer et al., 1999).Congenital central hypoventilation syndrome has been associated with several disorders classified as neurocristopathies, that is, aberrant phenotypes arising from a defect of migration or differentiation of neural crest cells. These include neuroblastoma (Haddad et al., 1978), ganglioneuroma (Swaminathan et al., 1989), and most frequently Hirschsprung disease (HSCR) which appears in 16% of CCHS patients. The association of CCHS and HSCR is referred to as Haddad syndrome.Congenital central hypoventilation can be a feature of other developmental disorders, such as those caused by mutation in the MECP2 gene (OMIM ).

CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS Is also known as autonomic control, congenital failure of, ondine curse, congenital;cchs; central congenital hypoventilation syndrome; congenital central alveolar hypoventilation syndrome; ondine curse

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Muscular hypotonia
  • Milia
  • Cognitive impairment


SOURCES: MONDO ORPHANET OMIM

More info about CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS

Low match TUBEROUS SCLEROSIS 2; TSC2

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 (OMIM ), caused by mutation in the TSC1 gene (OMIM ) on chromosome 9q34.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Motor delay


SOURCES: NCIT MONDO OMIM GARD UMLS

More info about TUBEROUS SCLEROSIS 2; TSC2

Low match COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2 Is also known as colon cancer, familial nonpolyposis, type 2;fcc2, coca2;

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Muscular hypotonia
  • Flexion contracture
  • Neoplasm


SOURCES: ORPHANET OMIM

More info about COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2

Low match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1 Is also known as skin creases, multiple benign ring-shaped, of limbs, circumferential skin creases, kunze type, michelin tire baby syndrome;ccsf; circumferential skin creases, kunze type; congenital circumferential skin folds; kunze-riehm syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: ORPHANET OMIM UMLS SCTID

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1

Low match TUBEROUS SCLEROSIS 1; TSC1

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex;tsc, tuberose sclerosis;ts;bourneville syndrome; tuberous sclerosis

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica


SOURCES: ORPHANET OMIM GARD MONDO NCIT SCTID ICD10 UMLS

More info about TUBEROUS SCLEROSIS 1; TSC1

Low match SOTOS SYNDROME 1; SOTOS1

SOTOS SYNDROME 1; SOTOS1 Is also known as sotos syndrome, cerebral gigantism, chromosome 5q35 deletion syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: NCIT MONDO OMIM

More info about SOTOS SYNDROME 1; SOTOS1

Low match NOONAN SYNDROME 1; NS1

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair (NSLH ), caused by mutation in the SHOC2 gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as noonan syndrome, male turner syndrome, female pseudo-turner syndrome, turner phenotype with normal karyotype

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM

More info about NOONAN SYNDROME 1; NS1

Top 5 symptoms//phenotypes associated to Neuroblastoma and Generalized seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Autosomal dominant inheritance Very Common - Between 80% and 100% cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Nevus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Neuroblastoma and Generalized seizures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Pica Hamartoma Behavioral abnormality Strabismus Constipation Lipoma Carcinoma Muscular hypotonia Hypoplasia of dental enamel Milia Cognitive impairment Low-set ears Downslanted palpebral fissures Anxiety Congestive heart failure Abnormal heart morphology Edema Abnormal facial shape High palate Attention deficit hyperactivity disorder Aganglionic megacolon Intellectual disability, mild Cryptorchidism Ganglioneuroma Arrhythmia Heterogeneous Hypertelorism Coma Abnormality of cardiovascular system morphology Precocious puberty

Rare Symptoms - Less than 30% cases


Shagreen patch Optic nerve glioma Ependymoma Angiofibromas Macule Wolff-Parkinson-White syndrome Adenoma sebaceum Gingival fibromatosis Astrocytoma Fibroma Sarcoma Infantile spasms Renal cell carcinoma High, narrow palate Multiple lipomas Cardiac rhabdomyoma Subungual fibromas Rhabdomyoma Low-set, posteriorly rotated ears Delayed speech and language development Epicanthus Depressed nasal bridge Micrognathia Scoliosis Microcephaly Generalized hypotonia Short stature Inguinal hernia Pectus excavatum Hernia Neoplasm of the pancreas Renal angiomyolipoma Wide intermamillary distance Increased intracranial pressure Cutis laxa Abdominal pain Lymphedema Specific learning disability Achromatic retinal patches Subependymal nodules Chordoma Hypomelanotic macule Cortical tubers Ungual fibroma Subcutaneous nodule Cafe-au-lait spot Cerebral calcification Gastroesophageal reflux Depressivity Respiratory insufficiency Feeding difficulties Patent ductus arteriosus Atrial septal defect Central hypoventilation Ventricular septal defect Death in infancy Acrania Polyhydramnios Posteriorly rotated ears Sensorineural hearing impairment Heterotopia Nystagmus Glioma Nephroblastoma Hallucinations Febrile seizures Ganglioneuroblastoma Abnormal pupil morphology Hyperhidrosis Upslanted palpebral fissure Short neck Motor delay Abnormality of the kidney Renal cyst Optic atrophy Autism Dilatation Hypothyroidism Mandibular prognathia Gray matter heterotopias Subependymal giant-cell astrocytoma Sacrococcygeal teratoma Expressive language delay Abnormal glucose tolerance Hyperplasia of the maxilla Dolichocephaly Projection of scalp hair onto lateral cheek Hamartomatous polyposis Cavum septum pellucidum Overbite Teratoma Advanced eruption of teeth Pulmonary lymphangiomyomatosis Dental enamel pits Confetti-like hypopigmented macules Small cell lung carcinoma Periventricular leukomalacia Genu valgum Hypermetropia Retinal hamartoma Premature chromatid separation Macrodactyly Abnormality of the cerebral ventricles Chylothorax Joint hypermobility Supraventricular tachycardia Pneumothorax Abnormality of the pleura Hyperreflexia Poor coordination Sporadic Apraxia Ventriculomegaly Overgrowth Jaundice Small nail Tall stature Otitis media Vesicoureteral reflux Frontal bossing Conductive hearing impairment Pes planus Renal agenesis Prominent forehead Macrotia Coarse facial features Abnormal vertebral morphology Accelerated skeletal maturation Oxycephaly Prolonged neonatal jaundice High anterior hairline Enlarged cisterna magna Long foot Agenesis of permanent teeth Neonatal hypotonia Joint laxity Partial agenesis of the corpus callosum Pointed chin Hypodontia Large hands Redundant skin Reduced number of teeth Aggressive behavior Macrocephaly Abnormal dermatoglyphics Webbed neck Growth delay Abnormality of the vertebral column Drusen Malignant hyperthermia Arnold-Chiari type I malformation Male infertility Uveitis Neurofibromas Cystic hygroma Gonadal dysgenesis Abnormality of blood and blood-forming tissues Shield chest Abnormality of color vision Leukocytosis Pterygium Failure to thrive in infancy Abnormality of the coagulation cascade Myelodysplasia Cubitus valgus Radial deviation of finger Arnold-Chiari malformation Nonimmune hydrops fetalis Restrictive cardiomyopathy Patent foramen ovale Gonadal neoplasm Preductal coarctation of the aorta Reduced factor XIII activity Nasogastric tube feeding Panuveitis Reduced factor XII activity Amegakaryocytic thrombocytopenia Superior pectus carinatum Neurofibrosarcoma Pectus excavatum of inferior sternum Atrial flutter Loose anagen hair Juvenile myelomonocytic leukemia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Multiple lentigines Synovitis Asymmetry of the thorax Schwannoma Poor suck Azoospermia Ptosis Thrombocytopenia Postnatal growth retardation Hypertrophic cardiomyopathy Kyphoscoliosis Proptosis Headache Hypogonadism Clinodactyly Rod-cone dystrophy Vomiting Coloboma Cardiomyopathy Fever Splenomegaly Tics Myopia Brachydactyly Pain Myopathy Cataract Sparse hair Abnormal cardiac septum morphology Elevated alkaline phosphatase Abdominal distention Bicuspid aortic valve Plagiocephaly Left ventricular hypertrophy Amblyopia Clumsiness Hypotrichosis Coarctation of aorta Primary amenorrhea Ventricular hypertrophy Low posterior hairline Facial asymmetry Amenorrhea Dental malocclusion Eczema Abnormal bleeding Brain neoplasm Bruising susceptibility Triangular face Leukemia Pulmonic stenosis Skin tags Overfolded helix Abnormality of the pancreas Abnormal pyramidal sign Dyskinesia Malabsorption Nausea and vomiting Irritability Neurological speech impairment Developmental regression Weight loss Fatigue Gastrointestinal hemorrhage Hypertonia Gait disturbance Dysarthria Visual impairment Flexion contracture Third degree atrioventricular block Rhabdomyosarcoma Abnormality of neuronal migration Paresthesia Migraine Bradycardia Dysgraphia Agnosia Glioblastoma multiforme Leiomyosarcoma Pancreatic adenocarcinoma Death in early adulthood Amaurosis fugax Prostate cancer Intestinal polyposis Memory impairment Pituitary adenoma Hepatocellular carcinoma Ovarian neoplasm Colon cancer Basal cell carcinoma Visual field defect Breast carcinoma Hemiplegia/hemiparesis Atrioventricular block Hypercapnia Benign neoplasm of the central nervous system Generalized tonic-clonic seizures with focal onset Small for gestational age Failure to thrive Somatosensory auras Auditory auras Deja vu Auras Focal seizures without impairment of consciousness or awareness Auditory hallucinations Decreased fetal movement Aphasia Focal seizures with impairment of consciousness or awareness Mutism Palpitations Focal seizures Neuroma Neoplasm of the nervous system Prolonged QT interval Oligohydramnios Abnormal autonomic nervous system physiology Abnormality of the autonomic nervous system Hypoventilation Abnormality of temperature regulation Neoplasm of the central nervous system Triangular mouth Hypoxemia Chronic lung disease Chronic constipation Polycythemia Abnormality of the mouth Breathing dysregulation Sleep apnea Abnormal lung morphology Abnormality of the cardiovascular system Postural instability Apnea Respiratory tract infection Short nose Central sleep apnea Neoplasm of the thyroid gland Neoplasm of the skeletal system Nevus flammeus Renal insufficiency Iris coloboma Papule Abnormality of the cerebral white matter Abnormality of the liver Intellectual disability, moderate EEG abnormality Glaucoma Hypertension Stroke Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Ureterocele Periorbital fullness Retinal detachment Gliosis Hypoplastic nipples Emphysema Renal neoplasm Abnormality of the respiratory system Multiple renal cysts Gingivitis Multiple cafe-au-lait spots Prominent occiput Cortical dysplasia Polycystic kidney dysplasia Tachycardia Ventricular tachycardia Aortic aneurysm CNS hypomyelination Hypopigmented skin patches Aplasia/Hypoplasia of the corpus callosum Cardiomegaly Hypopigmentation of the skin Brain atrophy Lower limb asymmetry Irregular hyperpigmentation Abnormality of creatine metabolism Hypospadias Retinopathy Telecanthus Umbilical hernia High forehead Abnormality of the genital system Narrow mouth Brachycephaly Microphthalmia Blepharophimosis Long philtrum Hypoplasia of the corpus callosum Wide nasal bridge Cleft palate Hearing impairment Urinary tract neoplasm Cardiac diverticulum Neoplasm of the rectum Abnormality of the pinna Microtia External ear malformation Thickened skin Cerebellar vermis atrophy Long fingers Overlapping toe Tricuspid regurgitation Abnormality of the musculature Phimosis Scrotal hypoplasia Optic nerve hypoplasia Generalized hirsutism Severe global developmental delay Hypertrichosis Dandy-Walker malformation Abnormality of the face Short palpebral fissure Full cheeks Abnormality of the skin Microcornea Flat face Postductal coarctation of the aorta


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