Ataxia, and Neuroblastoma

Diseases related with Ataxia and Neuroblastoma

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


Top matches:

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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

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Other less relevant matches:

Low match SOTOS SYNDROME 1; SOTOS1


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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Low match ATYPICAL TERATOID RHABDOID TUMOR


Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.

ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL TERATOID RHABDOID TUMOR

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B


Neuronal ceroid lipofuscinosis-4B is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, {204200}). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B Is also known as ceroid lipofuscinosis, neuronal, parry type|kufs disease, autosomal dominant

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Tremor


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B

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-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB 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 female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match NEUROFIBROMATOSIS TYPE 2


Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.

NEUROFIBROMATOSIS TYPE 2 Is also known as nf2|bilateral acoustic neurofibromatosis|central neurofibromatosis

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 2

Low match L-2-HYDROXYGLUTARIC ACIDURIA


L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

L-2-HYDROXYGLUTARIC ACIDURIA Is also known as l-2-hga|l-2-hydroxyglutaric acidemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about L-2-HYDROXYGLUTARIC ACIDURIA

Low match NEUROCUTANEOUS MELANOCYTOSIS


Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Top 5 symptoms//phenotypes associated to Ataxia and Neuroblastoma

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


High palate Clumsiness Cranial nerve paralysis Depressed nasal bridge Leukemia Mental deterioration Hydrocephalus Astrocytoma Microcephaly Generalized hypotonia Atrial septal defect Hearing impairment Nystagmus Strabismus Growth delay Macrocephaly Myoclonus

Rare Symptoms - Less than 30% cases


Intellectual disability, mild Encephalitis Lymphedema Meningioma Short stature Macrotia Micrognathia Muscle weakness Abnormality of the nervous system Thrombocytopenia Sloping forehead Increased intracranial pressure Ventriculomegaly Hypertelorism Abnormal facial shape Cryptorchidism Delayed speech and language development Optic atrophy Downslanted palpebral fissures Ventricular septal defect Patent ductus arteriosus Otitis media Abnormal heart morphology Acute lymphoblastic leukemia Abnormal cerebellum morphology Arnold-Chiari malformation Abnormality of neuronal migration High, narrow palate Primary amenorrhea Amenorrhea Aplasia/Hypoplasia of the cerebellum Short neck Neurofibromas Cafe-au-lait spot Cataract Migraine Upslanted palpebral fissure Low-set ears Spinal cord compression Sensorineural hearing impairment Apraxia Abnormality of extrapyramidal motor function Ganglioneuroblastoma Neuronal loss in central nervous system Spasticity Abdominal pain Irritability Diarrhea Fever Attention deficit hyperactivity disorder Hypertension Generalized tonic-clonic seizures Gait ataxia Pain Feeding difficulties Neoplasm of the nervous system Left ventricular hypertrophy Vomiting Low posterior hairline Ventricular hypertrophy Coarctation of aorta Increased neuronal autofluorescent lipopigment Wide intermamillary distance Webbed neck Dental malocclusion Amblyopia Pterygium Plagiocephaly Azoospermia Bicuspid aortic valve Auditory hallucinations Poor suck Abnormal bleeding Elevated alkaline phosphatase Failure to thrive in infancy Tics Visual hallucinations Involuntary movements Patent foramen ovale Myelodysplasia Memory impairment Stooped posture Pulmonic stenosis Abdominal distention Epicanthus Constipation Clinodactyly Ptosis Pectus excavatum Hernia Abnormality of cardiovascular system morphology Cognitive impairment Brachydactyly Posteriorly rotated ears Myopia Dilatation Headache Splenomegaly Cardiomyopathy Edema Congestive heart failure Rod-cone dystrophy Hypogonadism Triangular face Abnormal cardiac septum morphology Bruising susceptibility Facial asymmetry Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Hypotrichosis Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Broad forehead Sparse hair Proptosis Granular osmiophilic deposits (GROD) in cells Postnatal growth retardation Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Kyphoscoliosis Gastroesophageal reflux Polyhydramnios Cubitus valgus Superior pectus carinatum Radial deviation of finger Leukodystrophy Corpus callosum atrophy Atrophy/Degeneration affecting the brainstem Dysphasia Global brain atrophy Leukoencephalopathy Spastic tetraparesis Intellectual disability, progressive Horizontal nystagmus Truncal ataxia Tetraparesis Morphological abnormality of the pyramidal tract Aciduria Gliosis Abnormal pyramidal sign Developmental regression Dystonia Cerebellar atrophy Intellectual disability, severe Motor delay Muscular hypotonia Organic aciduria Ependymoma Benign neoplasm of the central nervous system Melanoma Choroid plexus papilloma Papilloma Meningocele Arachnoid cyst Syringomyelia Generalized hyperpigmentation Melanocytic nevus Chorioretinal coloboma Intracranial hemorrhage Renal hypoplasia/aplasia L-2-hydroxyglutaric aciduria Venous thrombosis Generalized hirsutism Abnormality of retinal pigmentation Thickened skin Hemiparesis Dandy-Walker malformation Nevus EEG abnormality Severe demyelination of the white matter L-2-hydroxyglutaric acidemia Occasional neurofibromas Pseudoepiphyses of the metacarpals Abnormality of the coagulation cascade Atrial flutter Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Nonimmune hydrops fetalis Reduced factor XII activity Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Abnormality of the vertebral column Male infertility Cystic hygroma Abnormality of color vision Leukocytosis Amegakaryocytic thrombocytopenia Neurofibrosarcoma Neoplasm of the central nervous system Corneal opacity Dysgraphia Abnormality of the retinal vasculature Multiple cafe-au-lait spots Tinnitus Neoplasm of the skin Subcutaneous nodule Sensory neuropathy Vertigo Papule Facial palsy Panuveitis Gait disturbance Visual impairment Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Parkinsonism Advanced eruption of teeth Dyskinesia Neurodegeneration Chronic diarrhea Recurrent urinary tract infections Abnormality of the face Choanal atresia Cutaneous photosensitivity Convex nasal ridge Prominent nose Lymphoma Hemolytic anemia Telangiectasia Cleft upper lip Anal atresia Small for gestational age Prominent nasal bridge Intellectual disability, moderate Hydronephrosis Retrognathia Respiratory failure Bronchiectasis Sinusitis Recurrent respiratory infections Abnormality of the musculature Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Acute leukemia Hearing abnormality Anal stenosis Autoimmune hemolytic anemia Freckling Abnormality of the hair Long nose Non-midline cleft lip Combined immunodeficiency Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Low anterior hairline Lymphopenia Hyperactivity Pneumonia Abnormality of chromosome stability Adrenal calcification Hypoplasia of the corpus callosum Anteverted nares Elevated urinary vanillylmandelic acid Elevated urinary homovanillic acid Elevated urinary catecholamines Elevated urinary dopamine Abdominal mass Opsoclonus Horner syndrome Absent speech Ganglioneuroma Paraganglioma Skin nodule Abnormality of the thorax Bone pain Weight loss Anemia Failure to thrive Long philtrum Hypothyroidism Hypospadias Laryngomalacia Immunodeficiency Respiratory insufficiency Skeletal muscle atrophy Intrauterine growth retardation Cleft palate Pontocerebellar atrophy Inverted nipples Impulsivity Hyperbilirubinemia Thin upper lip vermilion Paraparesis Bradycardia Postnatal microcephaly Open mouth Delayed myelination Inability to walk Protruding ear Apnea Hypoglycemia Medulloblastoma Glioma Retinal degeneration Poor coordination Overbite Abnormal glucose tolerance Periventricular leukomalacia Oxycephaly Cavum septum pellucidum Long foot Enlarged cisterna magna High anterior hairline Prolonged neonatal jaundice Teratoma Partial agenesis of the corpus callosum Agenesis of permanent teeth Large hands Nephroblastoma Precocious puberty Redundant skin Reduced number of teeth Cutis laxa Hamartomatous polyposis Hyperplasia of the maxilla Accelerated skeletal maturation Reduced consciousness/confusion Poor speech Rigidity Cerebral cortical atrophy Dementia Depressivity Tremor Dysarthria Malignant neoplasm of the central nervous system Hemiplegia/hemiparesis Expressive language delay Apathy Cerebral palsy Cerebral calcification Limitation of joint mobility Nausea and vomiting Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Abnormal dermatoglyphics Narrow palate Rhabdomyosarcoma Malar prominence Coarse facial features Mandibular prognathia Prominent forehead Frontal bossing Hyperreflexia Scoliosis Progressive vitiligo Mastoiditis Dysgammaglobulinemia Jaundice Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Pes planus Neonatal hypotonia Pointed chin Vesicoureteral reflux Narrow face Abnormal vertebral morphology Tall stature Hypoplasia of dental enamel Heterotopia Small nail Overgrowth Renal agenesis Hypodontia Conductive hearing impairment Joint hypermobility Genu valgum Hypermetropia Dolichocephaly Respiratory tract infection Abnormality of the kidney Joint laxity Aggressive behavior Carcinoma Numerous congenital melanocytic nevi



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