Ataxia, and Retinoblastoma

Diseases related with Ataxia and Retinoblastoma

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


Top matches:

Medium match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

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 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

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Other less relevant matches:

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 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 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 OSTEOGENIC SARCOMA


OSTEOGENIC SARCOMA Is also known as osteosarcoma|osrc

Related symptoms:

  • Short stature
  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Sarcoma
  • Osteosarcoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about OSTEOGENIC SARCOMA

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 SMALL CELL LUNG CANCER


Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.

SMALL CELL LUNG CANCER Is also known as sclc|sccl|sclc1

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Subcutaneous nodule
  • Neoplasm of the lung
  • Retinoblastoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about SMALL CELL LUNG CANCER

Low match BREAST CANCER


Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement.

BREAST CANCER Is also known as breast cancer, familial

Related symptoms:

  • Neoplasm
  • Pain
  • Carcinoma
  • Gynecomastia
  • Breast carcinoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about BREAST CANCER

Top 5 symptoms//phenotypes associated to Ataxia and Retinoblastoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Abnormality of the retinal vasculature Uncommon - Between 30% and 50% cases
Migraine Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cataract Hearing impairment Sensory neuropathy Gait disturbance Subcutaneous nodule Seizures Astrocytoma Corneal opacity Visual loss Pain Myoclonus Dementia Failure to thrive Increased intracranial pressure

Rare Symptoms - Less than 30% cases


Involuntary movements Tinnitus Retinal degeneration Neurofibromas Retinal detachment Psychosis Sarcoma Neoplasm of the skin Multiple cafe-au-lait spots Cerebral cortical atrophy Bone pain Irritability Meningioma Dysgraphia Neoplasm of the central nervous system Glaucoma Oral-pharyngeal dysphagia Behavioral abnormality Blindness Pseudoepiphyses of the metacarpals Muscle weakness Nystagmus Occasional neurofibromas Cafe-au-lait spot Intellectual disability Hypertension Weight loss Vascular neoplasm Tremor Rigidity Dysarthria Anxiety Carcinoma Peripheral neuropathy Abnormality of the nervous system Aggressive behavior Facial palsy Anemia Papule Nausea and vomiting Aplasia/Hypoplasia of the cerebellum Poor speech Confusion Growth delay Vertigo Progressive hearing impairment Spasticity Depressivity Retinopathy of prematurity Vestibular Schwannoma Abnormality of the diencephalon Decreased corneal sensation Abnormal vitreous humor morphology Neuroma Corneal degeneration Retinal hamartoma Mononeuropathy Abnormal cochlea morphology Bilateral vestibular Schwannoma Peripheral Schwannoma Spinal cord tumor Progressive visual loss Aplasia/Hypoplasia of the lens Posterior subcapsular cataract Sensorimotor neuropathy Unilateral vestibular Schwannoma Paralysis Hamartoma Axonal loss Subcapsular cataract Reduced visual acuity Headache Ependymoma Schwannoma Anterior chamber synechiae Generalized muscle weakness Neoplasm of the eye Cortical cataract Epiretinal membrane Uterine rupture Lisch nodules Renal cell carcinoma Juvenile posterior subcapsular lenticular opacities Fever Skin nodule Spinal cord compression Neuroblastoma Abnormality of the thorax Abdominal pain Diarrhea Embryonal neoplasm Ganglioneuroma Chondrosarcoma Osteosarcoma Abnormality of metabolism/homeostasis Short stature Benign neoplasm of the central nervous system Cranial nerve paralysis Granular osmiophilic deposits (GROD) in cells Paraganglioma Neoplasm of the nervous system Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Neoplasm of the lung Soft tissue sarcoma Neoplasm of the breast Prostate cancer Ovarian neoplasm Breast carcinoma Gynecomastia Small cell lung carcinoma Elevated urinary vanillylmandelic acid Horner syndrome Elevated urinary homovanillic acid Elevated urinary catecholamines Elevated urinary dopamine Abdominal mass Opsoclonus Adrenal calcification Ganglioneuroblastoma Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Capsular cataract Telangiectasia of the skin Pheochromocytoma Abnormality of the pancreas Abnormality of the cerebral vasculature Arteriovenous malformation Capillary hemangioma Multiple renal cysts Phthisis bulbi Hemiplegia/hemiparesis Visceral angiomatosis Polycystic kidney dysplasia Multicystic kidney dysplasia Neurological speech impairment Abnormality of the kidney Hyperhidrosis Arrhythmia Hydrocephalus Pancreatic cysts Abnormality of the lymphatic system Stooped posture Parkinsonism Increased neuronal autofluorescent lipopigment Auditory hallucinations Tics Visual hallucinations Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Memory impairment Abnormal cerebellum morphology Neuroendocrine neoplasm Dyskinesia Generalized tonic-clonic seizures Mental deterioration Gait ataxia Neoplasm of the middle ear Retinal capillary hemangioma Papillary cystadenoma of the epididymis Posterior synechiae of the anterior chamber Self-injurious behavior Erectile abnormalities Abnormality of the hand Osteoarthritis Cholestasis Clumsiness Nephrolithiasis Decreased liver function Increased body weight Muscle stiffness Spontaneous abortion Aminoaciduria Nephrocalcinosis Leukopenia Leukoencephalopathy Drooling Schizophrenia Back pain Hepatitis Hypercalciuria Abnormality of mitochondrial metabolism Personality changes Global brain atrophy Pathologic fracture Glycosuria Osteomalacia Arthropathy Abnormality of blood and blood-forming tissues Joint swelling Hepatocellular carcinoma Hypoparathyroidism Hand tremor Increased reactive oxygen species production Progressive neurologic deterioration Ascites Acute hepatic failure Elevated hepatic transaminase Hepatomegaly Fatigue Dysphagia Edema Vomiting Dystonia Splenomegaly Cerebral atrophy Thrombocytopenia Osteoporosis Arthralgia Jaundice Hepatosplenomegaly Difficulty walking Arthritis Coma Cirrhosis Polyneuropathy Hepatic steatosis Hemolytic anemia Bruising susceptibility Hepatic failure Joint hypermobility Nausea Proteinuria Peripheral axonal neuropathy Paresthesia Infertility Abnormality of the cerebral white matter Pruritus Abnormality of the liver Renal tubular dysfunction Chondrocalcinosis Leukocoria Abnormality of immune system physiology Delayed puberty Thin vermilion border Sleep disturbance Hypotelorism Intellectual disability, profound Stereotypy Hallucinations Clonus Opacification of the corneal stroma Intellectual disability, progressive Cachexia Ectopia lentis Abnormal retinal morphology Narrow nasal bridge Severe vision loss Retinopathy Hypoplasia of the iris Abnormality of the vasculature Sclerocornea Vitreoretinopathy Retinal dysplasia Abnormality of the helix Abnormal pupil morphology Anterior synechiae of the anterior chamber Venous insufficiency Retinal fold Remnants of the hyaloid vascular system Exudative vitreoretinopathy Shallow anterior chamber Abnormal chorioretinal morphology Attention deficit hyperactivity disorder Protruding ear Esophageal varix Global developmental delay Hyperphosphaturia Neoplasm of the liver Menstrual irregularities Proximal muscle weakness in lower limbs Abnormality of the menstrual cycle Premature osteoarthritis Hypocupremia Poor motor coordination Hypersexuality Acute hepatitis High nonceruloplasmin-bound serum copper Mixed demyelinating and axonal polyneuropathy Kayser-Fleischer ring Atypical or prolonged hepatitis Microcephaly Developmental regression Microphthalmia Abnormality of the eye Deeply set eye EEG abnormality Macrotia Autism Diabetes mellitus Malar flattening Scoliosis Hypertonia Intellectual disability, severe Optic atrophy Hyperreflexia Cryptorchidism Muscular hypotonia Endometrial carcinoma



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