Ataxia, and Glaucoma

Diseases related with Ataxia and Glaucoma

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


Top matches:

Low match EARLY-ONSET X-LINKED OPTIC ATROPHY


Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.

EARLY-ONSET X-LINKED OPTIC ATROPHY Is also known as optic atrophy, non-leber type, with early onset|optic atrophy type 2|opa2|non-leber type optic atrophy with early-onset|optic atrophy, x-linked

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Dysarthria
  • Optic atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EARLY-ONSET X-LINKED OPTIC ATROPHY

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5 Is also known as progressive external ophthalmoplegia, autosomal dominant 5

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Ptosis
  • Dysarthria
  • Fatigue


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5

Low match OPTIC ATROPHY 1; OPA1


Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998).Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON ), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. Genetic Heterogeneity of Optic AtrophyOptic atrophy-2 (OPA2 ) maps to chromosome Xp11.4-p11.21. OPA3 (OMIM ) is caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13. OPA4 (OMIM ) maps to chromosome 18q12.2-q12.3. OPA5 (OMIM ) is caused by mutation in the DNM1L gene (OMIM ) on chromosome 12p11. OPA6 (OMIM ) maps to chromosome 8q21-q22. OPA7 (OMIM ) is caused by mutation in the TMEM126A gene (OMIM ) on chromosome 11q14. OPA8 (OMIM ) maps to chromosome 16q21-q22. OPA9 (OMIM ) is caused by mutation in the ACO2 gene (OMIM ) on chromosome 22q13; OPA10 (OMIM ) is caused by mutation in the RTN4IP1 gene (OMIM ) on chromosome 6q21; and OPA11 (OMIM ) is caused by mutation in the YME1L1 gene (OMIM ) on chromosome 10p12.

OPTIC ATROPHY 1; OPA1 Is also known as kjer-type optic atrophy|optic atrophy, kjer type|oak|optic atrophy, juvenile

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY 1; OPA1

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Other less relevant matches:

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3


Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3 Is also known as charcot-marie-tooth disease with focally folded myelin|cmt4b3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75


Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75 Is also known as spg75

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75

Low match WOLFRAM-LIKE SYNDROME


Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Visual impairment
  • Peripheral neuropathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WOLFRAM-LIKE SYNDROME

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 WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY


Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Low match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Glaucoma

Symptoms // Phenotype % cases
Ophthalmoplegia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Optic atrophy Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Visual loss Visual impairment Sensorineural hearing impairment Myopathy Intellectual disability Optic neuropathy Gait ataxia Gait disturbance Global developmental delay Horizontal nystagmus Cerebellar atrophy Babinski sign Reduced visual acuity Strabismus External ophthalmoplegia Diabetes mellitus Cognitive impairment Seizures Progressive visual loss Pallor

Rare Symptoms - Less than 30% cases


Corpus callosum atrophy Areflexia Hypogonadism Generalized hypotonia Alopecia Spasticity Ventriculomegaly Neurological speech impairment Hypertonia Difficulty walking Diabetes insipidus Hydrocephalus Hallucinations Dementia Cataract Abnormal facial shape Sensory neuropathy Hypothyroidism Delayed puberty Peripheral axonal neuropathy Progressive cerebellar ataxia Male hypogonadism Type II diabetes mellitus Temporal optic disc pallor Respiratory insufficiency Retinal detachment Progressive external ophthalmoplegia Tremor Hyporeflexia Depressivity Hyperreflexia Blindness Dysphagia Spastic paraplegia Paraplegia Neurodegeneration Abnormality of color vision Anxiety Scotoma Abnormality of mitochondrial metabolism Severe vision loss Hypoplasia of the pons Colitis Hyperactive deep tendon reflexes Uveitis Retinal atrophy Hand tremor Abnormality of the urinary system Oligomenorrhea Progeroid facial appearance Head tremor Gaze-evoked nystagmus Ulcerative colitis Abnormal autonomic nervous system physiology Recurrent urinary tract infections Impaired proprioception Gastrointestinal hemorrhage Speech apraxia Sleep disturbance Saccadic smooth pursuit Delayed menarche Iridocyclitis Abnormal involuntary eye movements Ankle clonus Postural tremor Sensory axonal neuropathy Distal amyotrophy Abnormality of mesentery morphology Abnormality of the nervous system Hypoplasia of the corpus callosum Central apnea Cerebellar hypoplasia Myoclonus Rigidity Infertility Arachnodactyly Unsteady gait Dysuria Gastric ulcer Postural instability Memory impairment Polydipsia Lower limb spasticity Old-aged sensorineural hearing impairment Truncal ataxia Type I diabetes mellitus Oculomotor apraxia Pancreatitis Adducted thumb Limb ataxia Leber optic atrophy Parietal cortical atrophy Anomalous pulmonary venous return Dextrocardia Cortical dysplasia Chorioretinal atrophy Absent septum pellucidum Occipital encephalocele Aplasia cutis congenita Acute lymphoblastic leukemia Meningocele Vitreoretinopathy Calvarial skull defect Large forehead Aplasia cutis congenita of scalp Pyloric stenosis Total anomalous pulmonary venous return Macular hypoplasia Lens luxation Band keratopathy Lymphangioma Phthisis bulbi Abnormal vitreous humor morphology Cerebellar malformation Exudative retinal detachment Peripapillary atrophy Occipital meningocele Bifid ureter Ectopia lentis Corneal dystrophy Abnormality of the sella turcica Nyctalopia Abnormal motor evoked potentials Motor delay Malabsorption Depressed nasal bridge Epicanthus Myopia Cerebral atrophy Midface retrusion Patent ductus arteriosus Retrognathia Mental deterioration Leukemia Macular degeneration Congenital cataract Joint hyperflexibility Retinal degeneration Polymicrogyria Bulbous nose Vesicoureteral reflux High myopia Thin skin Encephalocele Pachygyria Abnormality of the hair Narrow face Nephropathy Cardiomyopathy Joint stiffness Distal lower limb amyotrophy Hypermetropia Astigmatism Dysmetria Abnormal cerebellum morphology Spastic gait Clonus Leukodystrophy Paraparesis Spastic paraparesis Impaired vibratory sensation Proximal muscle weakness Abnormal pyramidal sign Spastic dysarthria Areflexia of lower limbs Titubation Hyporeflexia of lower limbs Impaired distal vibration sensation Multiple mitochondrial DNA deletions Autism Increased muscle fatiguability Abnormality of the pinna Autistic behavior Retinopathy Abnormality of the cerebral white matter Intellectual disability, moderate Bilateral ptosis Limb muscle weakness Tritanomaly Centrocecal scotoma Dyschromatopsia Abnormal amplitude of pattern reversal visual evoked potentials Microcephaly Scoliosis Pain Central scotoma Syndactyly Pes planus Facial palsy Lower limb muscle weakness Neonatal hypotonia Distal sensory impairment Polyneuropathy Brain atrophy Urinary incontinence Sensory impairment Decreased nerve conduction velocity Onion bulb formation Visual field defect Optic disc pallor Muscle cramps Abnormality of the eye Ophthalmoparesis Bilateral sensorineural hearing impairment Feeding difficulties in infancy Abnormality of the lymphatic system Renal cell carcinoma Multiple renal cysts Capillary hemangioma Arteriovenous malformation Abnormality of the cerebral vasculature Abnormality of the retinal vasculature Abnormality of the pancreas Pheochromocytoma Pancreatic cysts Visceral angiomatosis Neuroendocrine neoplasm Hemiplegia/hemiparesis Papillary cystadenoma of the epididymis Retinal capillary hemangioma Vascular neoplasm Neoplasm of the middle ear Anemia Red-green dyschromatopsia Behavioral abnormality Constipation Dysdiadochokinesis Cerebral cortical atrophy Developmental regression Telangiectasia of the skin Aplasia/Hypoplasia of the cerebellum Exercise intolerance Neoplasm Psychosis Progressive hearing impairment Schizophrenia Congenital sensorineural hearing impairment Glucose intolerance Severe postnatal growth retardation Gastrointestinal dysmotility Abnormality of the upper urinary tract Central diabetes insipidus Primary gonadal insufficiency Moderate hearing impairment Hypertension Polycystic kidney dysplasia Fatigue Arrhythmia Hyperhidrosis Abnormality of the kidney Ptosis Nausea and vomiting Hyperactive patellar reflex Absent Achilles reflex Migraine Multicystic kidney dysplasia Increased intracranial pressure Cephalocele



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