Ataxia, and Glioma

Diseases related with Ataxia and Glioma

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


Top matches:

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 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

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Other less relevant matches:

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

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 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

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low match CHOREA, BENIGN HEREDITARY; BHC


CHOREA, BENIGN HEREDITARY; BHC Is also known as hereditary progressive chorea without dementia|bch

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Motor delay
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about CHOREA, BENIGN HEREDITARY; BHC

Low match ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1


ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 Is also known as adsa

Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Dysphagia
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

Low match SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES


Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Cerebral atrophy
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES

Top 5 symptoms//phenotypes associated to Ataxia and Glioma

Symptoms // Phenotype % cases
Gait disturbance Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Neuronal loss in central nervous system Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hearing impairment Neoplasm Abnormal cerebellum morphology Astrocytoma Behavioral abnormality Gliosis Myoclonus Sensory neuropathy Abnormality of extrapyramidal motor function Sensorineural hearing impairment Cataract Increased intracranial pressure Growth delay Meningioma Intellectual disability

Rare Symptoms - Less than 30% cases


Nystagmus Strabismus Falls Motor delay Neurodegeneration Cafe-au-lait spot Dystonia Small for gestational age Delayed speech and language development Short stature Abnormal pyramidal sign Muscle weakness Microcephaly Abnormality of the nervous system Ventriculomegaly Cognitive impairment Intrauterine growth retardation Abnormality of neuronal migration Ependymoma Immunodeficiency Babinski sign Thrombocytopenia Peripheral neuropathy Pseudoepiphyses of the metacarpals Aplasia/Hypoplasia of the cerebellum Encephalitis Anxiety Attention deficit hyperactivity disorder Prominent nasal bridge Occasional neurofibromas Dysmetria Neoplasm of the central nervous system Corneal opacity Rigidity Memory impairment Gait ataxia Auditory hallucinations Lymphopenia Cutaneous photosensitivity Sloping forehead Depressivity Convex nasal ridge Visual impairment Facial palsy Dementia Papule Neoplasm of the skin Dysgraphia Abnormality of the retinal vasculature Multiple cafe-au-lait spots Tinnitus Cranial nerve paralysis Long nose Tremor Subcutaneous nodule Vertigo Migraine Dilated cardiomyopathy Cardiomyopathy Long philtrum Recurrent infections Midface retrusion Hernia Obesity Clinodactyly Inguinal hernia Retinopathy Severe short stature Pes cavus Sparse hair Non-midline cleft lip Hypogonadism Diabetes mellitus Short philtrum Hypothyroidism Mandibular prognathia High forehead Deeply set eye Postnatal growth retardation Micropenis Progressive vitiligo Hypoplasia of the corpus callosum Anorectal anomaly Recurrent sinopulmonary infections Medulloblastoma Rhabdomyosarcoma Abnormal hair quantity Recurrent bronchitis Decrease in T cell count B lymphocytopenia Abnormal eyelid morphology Pollakisuria T-cell lymphoma Recurrent infection of the gastrointestinal tract Acute leukemia Penoscrotal hypospadias Anemia Hearing abnormality Dysgammaglobulinemia Malar prominence Acute lymphoblastic leukemia Anal stenosis Mastoiditis B-cell lymphoma Abnormal facial shape Cryptorchidism Neuroblastoma Autoimmune hemolytic anemia Abnormality of the musculature Freckling Abnormality of chromosome stability Slurred speech Hypermetropia Axial dystonia Peripheral demyelination Distal sensory impairment Hyporeflexia Areflexia Congestive heart failure Dysphagia Astrocytosis Positive Romberg sign Asthma Chorea Long neck Gastrointestinal stroma tumor Multinodular goiter Chronic lung disease Shuffling gait Sensory ataxia Distal sensory loss of all modalities Low hanging columella Apathy Hyperorality Paranoia Delusions Bowel incontinence Impulsivity Personality changes Mutism Distal sensory impairment of all modalities Hallucinations Stereotypy Urinary incontinence Aggressive behavior Encephalopathy Cerebral atrophy Gait instability, worse in the dark Misalignment of teeth Increased circulating gonadotropin level Synophrys Pigmentary retinopathy Broad-based gait Renal hypoplasia Epidermal acanthosis Apraxia Hypotelorism Bradykinesia Limb undergrowth Insulin resistance Decreased testicular size Renal agenesis Progressive cerebellar ataxia Broad nasal tip Triangular face Polyneuropathy Long face Abnormal lung morphology Hypergonadotropic hypogonadism Abnormality of lipid metabolism Bilateral cryptorchidism Cerebellar vermis atrophy Truncal obesity Cortical gyral simplification Ectopic kidney High pitched voice Sensory axonal neuropathy Unilateral renal agenesis Bone marrow hypocellularity Postural tremor Dysdiadochokinesis Premature ovarian insufficiency Goiter Leukopenia Acanthosis nigricans Short chin Combined immunodeficiency Recurrent respiratory infections Deep philtrum Dandy-Walker malformation Atrophy/Degeneration affecting the brainstem Corpus callosum atrophy Organic aciduria Morphological abnormality of the pyramidal tract Neoplasm of the nervous system L-2-hydroxyglutaric aciduria L-2-hydroxyglutaric acidemia Severe demyelination of the white matter Generalized hypotonia Spasticity Hypertension Hydrocephalus EEG abnormality Nevus Hemiparesis Global brain atrophy Thickened skin Abnormality of retinal pigmentation Generalized hirsutism Venous thrombosis Renal hypoplasia/aplasia Arnold-Chiari malformation Melanoma Intracranial hemorrhage Chorioretinal coloboma Melanocytic nevus Generalized hyperpigmentation Syringomyelia Arachnoid cyst Meningocele Dysphasia Leukoencephalopathy Papilloma Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Cerebral cortical atrophy Irritability Generalized tonic-clonic seizures Poor speech Retinal degeneration Dyskinesia Parkinsonism Involuntary movements Visual hallucinations Tics Increased neuronal autofluorescent lipopigment Stooped posture Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Granular osmiophilic deposits (GROD) in cells Spastic tetraparesis Developmental regression Intellectual disability, progressive Horizontal nystagmus Truncal ataxia Leukodystrophy Tetraparesis Aciduria Intellectual disability, mild Benign neoplasm of the central nervous system Cerebellar atrophy Intellectual disability, severe Atrial septal defect Optic atrophy Macrocephaly Muscular hypotonia Spinal cord compression Choroid plexus papilloma Cachexia Cleft upper lip Short neck Respiratory insufficiency Diarrhea Hypospadias Pneumonia Upslanted palpebral fissure Hyperactivity Respiratory failure Macrotia Retrognathia Hydronephrosis Intellectual disability, moderate Leukemia Anal atresia Hemolytic anemia Depressed nasal bridge Chronic diarrhea Recurrent pneumonia Low anterior hairline Abnormality of the hair Sinusitis Telangiectasia Bronchiectasis Recurrent urinary tract infections Lymphoma Abnormality of the face Choanal atresia Primary amenorrhea Amenorrhea Otitis media Prominent nose Skeletal muscle atrophy Cleft palate Numerous congenital melanocytic nevi Subcapsular cataract Pain Blindness Headache Visual loss Reduced visual acuity Paralysis Generalized muscle weakness Progressive visual loss Sensorimotor neuropathy Progressive hearing impairment Oral-pharyngeal dysphagia Neurofibromas Hamartoma Axonal loss Posterior subcapsular cataract Micrognathia Retinal hamartoma Capsular cataract Juvenile posterior subcapsular lenticular opacities Unilateral vestibular Schwannoma Peripheral Schwannoma Bilateral vestibular Schwannoma Mononeuropathy Neuroma Schwannoma Vestibular Schwannoma Decreased corneal sensation Spinal cord tumor Epiretinal membrane Cortical cataract Lisch nodules Violent behavior



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Infertility, related diseases and genetic alterations Macrocephaly and Ventricular hypertrophy, related diseases and genetic alterations Brachydactyly and Delayed puberty, related diseases and genetic alterations Strabismus and Unsteady gait, related diseases and genetic alterations Sensorineural hearing impairment and Lower limb muscle weakness, related diseases and genetic alterations

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