Ataxia, and Corneal opacity

Diseases related with Ataxia and Corneal opacity

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


Top matches:

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 GM1 GANGLIOSIDOSIS TYPE 3


GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.

GM1 GANGLIOSIDOSIS TYPE 3 Is also known as gangliosidosis, generalized gm1, type iii|gangliosidosis, generalized gm1, type 3|adult-onset gm1 gangliosidosis|gangliosidosis, generalized gm1, adult type|gangliosidosis, generalized gm1, chronic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 3

Low match MUCOLIPIDOSIS TYPE IV


Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE IV

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Other less relevant matches:

Low match TYROSINEMIA TYPE 2


Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.

TYROSINEMIA TYPE 2 Is also known as tyrosinemia due to tyrosine aminotransferase deficiency|keratosis palmoplantaris with corneal dystrophy|tyrosinemia due to tat deficiency|tyrosine transaminase deficiency|tyrosinosis, oculocutaneous type|tyrosine aminotransferase deficiency|keratosis palm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about TYROSINEMIA TYPE 2

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 MUCOLIPIDOSIS IV; ML4


Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Low match BILATERAL STRIOPALLIDODENTATE CALCINOSIS


Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Low match FAMILIAL DYSAUTONOMIA


Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an inherited disorder characterized by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction.

FAMILIAL DYSAUTONOMIA Is also known as dysautonomia, familial|dys|hereditary sensory and autonomic neuropathy type iii|hereditary sensory and autonomic neuropathy type 3|hsan3|hsan iii|fd|riley-day syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL DYSAUTONOMIA

Low match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Corneal opacity

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Muscular hypotonia 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 Corneal opacity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Global developmental delay Tremor Microcephaly Nystagmus Cataract Visual impairment Dysarthria Neurological speech impairment Optic atrophy Vertigo Dystonia Generalized hypotonia Reduced visual acuity Photophobia Slurred speech Delayed speech and language development Coarse facial features Absent speech Hyperreflexia Strabismus Sensory neuropathy Papule Cognitive impairment Progressive neurologic deterioration

Rare Symptoms - Less than 30% cases


Palmoplantar keratoderma Growth delay Abnormality of ganglioside metabolism Abnormality of mucopolysaccharide metabolism Emotional lability Developmental stagnation Hepatomegaly Truncal titubation Visual loss Diarrhea Dementia Cerebral cortical atrophy Synophrys Abnormal cerebellum morphology Motor delay Titubation Hyperhidrosis Unsteady gait Cerebellar atrophy Depressivity Myopia Gait ataxia Sensorineural hearing impairment Limb ataxia Oral-pharyngeal dysphagia Hypoplasia of the corpus callosum Paralysis Mask-like facies Headache Peripheral neuropathy Hearing impairment Epiphora Abnormality of movement Hypertension Occasional neurofibromas Tinnitus Chorea Pseudoepiphyses of the metacarpals Neoplasm of the central nervous system Mental deterioration Rigidity Urinary incontinence Abnormality of extrapyramidal motor function Dysgraphia Astrocytoma Abnormality of the retinal vasculature Opacification of the corneal stroma Meningioma Parkinsonism Multiple cafe-au-lait spots Athetosis Increased intracranial pressure Neoplasm of the skin Facial palsy Visceromegaly Migraine Subcutaneous nodule Intellectual disability, mild Spasticity Scoliosis Abnormality of the pulmonary artery Lewy bodies Abnormal lower motor neuron morphology Broad distal phalanx of finger Calcinosis Progressive choreoathetosis Focal dystonia Renal insufficiency Vomiting Hypoplasia of the fovea Micrographia Orofacial dyskinesia Speech apraxia Pseudohypoparathyroidism Alcoholism Pill-rolling tremor Dense calcifications in the cerebellar dentate nucleus Mood swings Calcification of the small brain vessels Focal motor seizures Subcutaneous hemorrhage Limb dysmetria Mandibular prognathia Dysdiadochokinesis Frontotemporal dementia Neuronal loss in central nervous system Dysphagia Ventriculomegaly Thrombocytopenia Encephalopathy Abnormality of the liver Abnormal pyramidal sign Dysmetria Dyskinesia Postural instability Craniofacial asymmetry Gliosis Memory impairment Cerebral calcification Progressive encephalopathy Bradykinesia Psychosis Choreoathetosis Broad-based gait Clumsiness Muscle stiffness Schizophrenia Hyporeflexia Scanning speech Abnormality of neuronal migration Basal ganglia calcification Bipolar affective disorder Areflexia Nausea and vomiting Constipation Poor head control Neuropathic arthropathy Decreased taste sensation Decreased corneal reflex Corneal ulceration Decerebrate rigidity Low anterior hairline Bilateral ptosis Episodic hyperhidrosis Increased blood urea nitrogen Postural tremor Alacrima Abnormality of the pleura Decreased number of large peripheral myelinated nerve fibers Abnormal renal physiology Abnormality of the peritoneum Involuntary movements Recurrent corneal erosions Coloboma Cerebral atrophy Anteverted nares Downslanted palpebral fissures Ptosis Neonatal hypotonia Muscular hypotonia of the trunk Congenital cataract Episodic hypertension Pulmonic stenosis High, narrow palate Hypopigmentation of the skin Apraxia Decreased sensitivity to hypoxemia Recurrent infections due to aspiration Abnormal pupil morphology Hypoxemia Recurrent respiratory infections Recurrent fractures EMG abnormality Abnormal autonomic nervous system physiology Hypohidrosis Peripheral demyelination Hypotension Sensory impairment Tachycardia Hypoplasia of the iris Nausea Hearing abnormality Cerebellar hypoplasia Feeding difficulties in infancy Abnormality of the kidney Gastroesophageal reflux Osteolysis Incoordination Fatigue Impaired pain sensation Heterochromia iridis Elevated serum creatinine Acrocyanosis Malignant hyperthermia Aseptic necrosis Episodic fever Glomerulopathy Glomerulosclerosis Brisk reflexes Orthostatic hypotension Aniridia Agitation Anhidrosis Hyponatremia Corneal erosion Palpebral edema Intrauterine growth retardation Keratitis Abnormal electroretinogram Biparietal narrowing Genu recurvatum Aplasia/Hypoplasia of the abdominal wall musculature Abnormal nasal morphology Malar flattening Hyperkeratosis Acidosis Infertility Hypoplasia of the maxilla Abnormality of the skin Abnormality of the nail Palmoplantar hyperkeratosis Male infertility Microdontia Ocular pain Hypertyrosinemia Abnormality of amino acid metabolism 4-Hydroxyphenylpyruvic aciduria Herpetiform corneal ulceration Neoplasm Muscle weakness Blindness Generalized muscle weakness Progressive visual loss Cafe-au-lait spot Sensorimotor neuropathy Progressive hearing impairment Neurofibromas Abnormality of retinal pigmentation Everted lower lip vermilion Axonal loss Generalized amyotrophy Cranial nerve paralysis Benign neoplasm of the central nervous system Short stature Skeletal muscle atrophy Hypertonia Kyphosis Pes cavus Myoclonus Platyspondyly Neurodegeneration Intention tremor Tetraparesis Abnormality of the face Spastic tetraparesis Progressive spasticity Retinopathy Abnormality of blood and blood-forming tissues Hyperactive deep tendon reflexes Loss of speech Generalized dystonia Diffuse cerebral atrophy Flared iliac wings Foam cells Facial grimacing Angiokeratoma Stuttering Hypoplastic acetabulae Anterior beaking of lumbar vertebrae Decreased beta-galactosidase activity EEG abnormality Hamartoma Subcapsular cataract Dense calvaria Hyperactivity Abnormality of abdomen morphology Increased serum ferritin Motor deterioration Decreased light- and dark-adapted electroretinogram amplitude Esodeviation Cerebral dysmyelination Dysplastic corpus callosum Hoarse cry Progressive psychomotor deterioration Oligosacchariduria Intellectual disability, severe Splenomegaly Pneumonia Joint stiffness Iron deficiency anemia Hirsutism Sleep disturbance Split hand Recurrent upper respiratory tract infections Growth abnormality Coarse hair Thickened calvaria Restlessness Dysostosis multiplex Asymmetric septal hypertrophy Heparan sulfate excretion in urine Central nervous system degeneration Thickened ribs Ovoid thoracolumbar vertebrae Severe vision loss Aspiration Posterior subcapsular cataract Juvenile posterior subcapsular lenticular opacities Schwannoma Lisch nodules Cortical cataract Epiretinal membrane Ependymoma Spinal cord tumor Decreased corneal sensation Vestibular Schwannoma Neuroma Retinal hamartoma Mononeuropathy Bilateral vestibular Schwannoma Peripheral Schwannoma Unilateral vestibular Schwannoma Capsular cataract Amblyopia Abnormal facial shape Anemia Babinski sign Skeletal dysplasia Hepatosplenomegaly Abnormality of the nervous system Developmental regression Abnormality of the cerebral white matter Abnormality of eye movement Retinal degeneration Retinal dystrophy Esotropia Spastic tetraplegia High myopia Frontal cortical atrophy



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