Neuroblastoma, and Visual loss

Diseases related with Neuroblastoma and Visual loss

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


Top matches:

Medium match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Low match VESTIBULAR SCHWANNOMA


Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.

VESTIBULAR SCHWANNOMA Is also known as bilateral acoustic neurofibromatosis|acoustic neurilemoma|acoustic schwannomas, bilateral|banf|neurofibromatosis, central type|acoustic neurinoma|acn|acoustic neuroma|acoustic neurinoma, bilateral

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VESTIBULAR SCHWANNOMA

Low match CRANIOPHARYNGIOMA


Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

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Other less relevant matches:

Low match NORRIE DISEASE


Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Low match RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS


Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena|cerebroretinal vasculopathy, hereditary|crv|retinal vasculopathy and cerebral leukoencephalopathy|rvcl|rvcl-s

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Low match VON HIPPEL-LINDAU DISEASE


Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about VON HIPPEL-LINDAU DISEASE

Low match VON HIPPEL-LINDAU SYNDROME; VHL


Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10 ) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B.Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about VON HIPPEL-LINDAU SYNDROME; VHL

Top 5 symptoms//phenotypes associated to Neuroblastoma and Visual loss

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Headache

Uncommon Symptoms - Between 30% and 50% cases


Hydrocephalus Intellectual disability Blindness Cataract Glaucoma Neurofibromas Migraine Astrocytoma Brain neoplasm Behavioral abnormality Sensorineural hearing impairment Ataxia Increased intracranial pressure Nystagmus Abnormality of the retinal vasculature Progressive visual loss Carcinoma Scoliosis Retinal detachment Confusion Microcephaly Hypertension Dysarthria Muscle weakness Hyperreflexia Neoplasm of the endocrine system Renal cell carcinoma Spasticity Pheochromocytoma Vertigo

Rare Symptoms - Less than 30% cases


Delayed puberty Global developmental delay Papilledema Hypogonadotrophic hypogonadism Cerebral calcification Hypotension Sleep disturbance Growth delay Neuroma Optic atrophy Arrhythmia Vestibular Schwannoma Schwannoma Lisch nodules Neoplasm of the central nervous system Anxiety Hypoglycemia Constipation Nausea and vomiting Hypertelorism Cryptorchidism Incoordination Retinal capillary hemangioma Papillary cystadenoma of the epididymis Pancreatic cysts Capillary hemangioma Multiple renal cysts Edema Memory impairment Muscle stiffness Hemiparesis Nevus Proteinuria Carcinoid tumor Paraganglioma Spina bifida Microphthalmia Paresthesia Kyphoscoliosis Dilatation Abnormality of the skeletal system Macrocephaly Hamartoma Vascular neoplasm Severe vision loss Aplasia/Hypoplasia of the cerebellum Attention deficit hyperactivity disorder Retinopathy EEG abnormality Autism Dementia Meningioma Depressivity Multiple cafe-au-lait spots Vomiting Corneal opacity Paralysis Facial palsy Strabismus Abnormal facial shape Reduced visual acuity Gait disturbance Peripheral neuropathy Cleft palate Anemia Neoplasm of the eye Sensory neuropathy Histiocytoma Malar flattening Weight loss Leukocoria Soft tissue sarcoma Leiomyosarcoma Proptosis Retinoblastoma Leukemia Abnormality of skin pigmentation Sarcoma Papule Lymphoma Progressive hearing impairment Neoplasm of the skin Sensorimotor neuropathy Cafe-au-lait spot Tinnitus Short ribs Nephritis Glomerulonephritis Relative macrocephaly Spina bifida occulta Hemivertebrae Pulmonary capillary hemangiomatosis Hyperpigmentation of the skin Bradycardia Inflammation of the large intestine Exotropia Skin rash Abnormality of the ribs Hemangioblastoma Palmoplantar keratoderma Postaxial polydactyly Iris coloboma Oral cleft Cleft upper lip Melanocytic nevus Basal cell carcinoma Disproportionate tall stature Down-sloping shoulders Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Ulcerative colitis Broad face Abnormality of the neck Short 4th metacarpal Skin tags Fragile nails Milia Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Colitis Vertebral fusion Agenesis of permanent teeth Long fingers Carious teeth Arachnodactyly Hemangioma Hamartomatous polyposis Renal artery stenosis Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Single ventricle Arterial fibromuscular dysplasia Pseudoarthrosis Epigastric pain Secondary hyperaldosteronism Dural ectasia Fibular bowing Gastrointestinal stroma tumor Chronic myelogenous leukemia Renal phosphate wasting Glioma Spinal neurofibromas Cerebral artery stenosis Coloboma Brachycephaly Sparse hair Cleft lip Telecanthus Spinal hemangioblastoma Coarse facial features Retrognathia Mandibular prognathia Polydactyly Abdominal pain Pectus excavatum Tibial pseudoarthrosis Syndactyly Abnormality of the dentition Frontal bossing Downslanted palpebral fissures Wide nasal bridge Brachydactyly Epicanthus Motor delay Micrognathia Brow ptosis Hypotrichosis Abnormality of the sense of smell Fibroma Central nervous system degeneration Abnormality of the kidney Hyperhidrosis Punctate vasculitis skin lesions Diminished ability to concentrate Progressive forgetfulness Focal white matter lesions Vasculitis in the skin Retinal exudate Limb pain Multicystic kidney dysplasia Retinal hemorrhage Micronodular cirrhosis Macular edema Raynaud phenomenon Chronic sinusitis Aseptic necrosis Abnormality of the periventricular white matter Glomerulopathy Lower limb hyperreflexia Neurological speech impairment Polycystic kidney dysplasia Leukoencephalopathy Renal neoplasm Renal cyst Hypercalcemia Abnormality of the liver Neoplasm of the middle ear Polycythemia Exocrine pancreatic insufficiency Subarachnoid hemorrhage Neoplasm of the pancreas Hyperaldosteronism Neuroendocrine neoplasm Hemiplegia/hemiparesis Abnormality of the lymphatic system Facial paralysis Visceral angiomatosis Abnormality of the pancreas Abnormality of the cerebral vasculature Arteriovenous malformation Choroidal neovascularization Posterior uveitis Telangiectasia of the skin Elevated erythrocyte sedimentation rate Vasculitis Hypokalemia Bifid ribs Tremor Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Nasolacrimal duct obstruction Curved fingers Scarring Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Difficulty walking Autoimmunity Leukodystrophy Stroke Sinusitis Telangiectasia Apraxia Sensory impairment Hematuria Nephropathy Cirrhosis Adrenal pheochromocytoma Lower limb muscle weakness Mental deterioration Urinary incontinence Elevated hepatic transaminase Retinal neovascularization Epididymal cyst Urinary hesitancy CNS demyelination Emotional lability Hyperkinesis Diplopia Cerebellar hemangioblastoma Cardiac rhabdomyoma Myelodysplasia Rhabdomyosarcoma Intracranial cystic lesion Liposarcoma Sebaceous gland carcinoma Muscular hypotonia Failure to thrive Hyphema Abnormality of the frontal bone Abnormality of the nasal bone Abnormal hypothalamus morphology Neoplasm of the anterior pituitary Abnormal visual field test Hypertonia Craniopharyngioma Progressive visual field defects Enlarged pituitary gland Slow decrease in visual acuity Bitemporal hemianopia Sudden loss of visual acuity Central adrenal insufficiency Central diabetes insipidus Cerebral ischemia Pituitary hypothyroidism Intellectual disability, severe Vitritis Prolactin excess Protruding ear Hallucinations Stereotypy Psychosis Intellectual disability, profound Hypotelorism Thin vermilion border Retinal degeneration Malar rash Glioblastoma multiforme Irritability Myoclonus Developmental regression Abnormality of the eye Aggressive behavior Abnormality of the nervous system Deeply set eye Fibrosarcoma Macrotia Burkitt lymphoma Cerebral cortical atrophy Diabetes mellitus Excessive daytime somnolence Ewing sarcoma Opacification of the corneal stroma Retinal hamartoma Fatigue Generalized muscle weakness Capsular cataract Juvenile posterior subcapsular lenticular opacities Unilateral vestibular Schwannoma Occasional neurofibromas Peripheral Schwannoma Bilateral vestibular Schwannoma Mononeuropathy Subcutaneous nodule Obesity Decreased corneal sensation Spinal cord tumor Pseudoepiphyses of the metacarpals Ependymoma Epiretinal membrane Cortical cataract Dysgraphia Oral-pharyngeal dysphagia Posterior subcapsular cataract Subcapsular cataract Recurrent infections Hypogonadism Proportionate short stature Myocardial infarction Hypopituitarism Orthostatic hypotension Polyphagia Impotence Diabetes insipidus Increased susceptibility to fractures Sleep apnea Pineal cyst Increased body weight Type II diabetes mellitus Hypothyroidism Iris neovascularization Amenorrhea Pinealoma Coma Retinal calcification Nausea Pineoblastoma Neuroblastic tumors Lethargy Postnatal growth retardation Clonus Intellectual disability, progressive Postural instability Overgrowth Atherosclerosis Uveitis Bone pain Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Abnormality of the cardiovascular system Tetralogy of Fallot Specific learning disability Reduced bone mineral density Gastrointestinal hemorrhage Recurrent fractures Peripheral axonal neuropathy Chromosome breakage Facial asymmetry Genu valgum Malabsorption Pulmonic stenosis Pruritus Autistic behavior Venous thrombosis Breast carcinoma Osteopenia Increased reactive oxygen species production Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Anorexia Parathyroid adenoma Aqueductal stenosis Myocardial fibrosis Axonal loss Gangrene Overweight Acute myeloid leukemia Cellulitis Osteomalacia Freckling Tibial bowing Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Hypertrophic cardiomyopathy Osteosarcoma Cachexia Abnormal pupil morphology Phthisis bulbi Erectile abnormalities Abnormal chorioretinal morphology Shallow anterior chamber Exudative vitreoretinopathy Remnants of the hyaloid vascular system Retinal fold Venous insufficiency Anterior synechiae of the anterior chamber Abnormality of the helix Abnormal vitreous humor morphology Retinal dysplasia Vitreoretinopathy Sclerocornea Abnormality of the vasculature Hypoplasia of the iris Abnormality of immune system physiology Narrow nasal bridge Abnormal retinal morphology Self-injurious behavior Ectopia lentis Posterior synechiae of the anterior chamber Corneal degeneration Hyperactivity Vitreous hemorrhage Osteoporosis Abnormal heart morphology Anemia of inadequate production Abnormality of cardiovascular system morphology Acute monocytic leukemia Intellectual disability, mild Cardiomyopathy Respiratory insufficiency Buphthalmos Inflammatory abnormality of the eye Delayed speech and language development Abnormality of the diencephalon Cognitive impairment Ptosis Ocular pain Short stature Anisocoria Anterior chamber synechiae Uterine rupture Aplasia/Hypoplasia of the lens Abnormal cochlea morphology Retinopathy of prematurity Neoplasm of the ear



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