Cataract, and Migraine

Diseases related with Cataract and Migraine

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


Top matches:

Low match PEROXISOME BIOGENESIS DISORDER 14B; PEX14B


PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (OMIM ) spectrum' (ZSS) disorder. See PBD1B (OMIM ) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (OMIM ) for another atypical peroxisome biogenesis disorder.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 14B; PEX14B

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 SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME


Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

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Other less relevant matches:

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 CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

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 SPINOCEREBELLAR ATAXIA WITH EPILEPSY


Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.

SPINOCEREBELLAR ATAXIA WITH EPILEPSY Is also known as mitochondrial spinocerebellar ataxia with epilepsy|mscae|sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive|scae

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH EPILEPSY

Low match COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY


COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

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

Top 5 symptoms//phenotypes associated to Cataract and Migraine

Symptoms // Phenotype % cases
Visual impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Migraine. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Muscle weakness Headache Progressive hearing impairment Gait disturbance Sensory neuropathy Abnormality of the retinal vasculature Depressivity Corneal opacity Dysarthria Peripheral neuropathy Global developmental delay Increased intracranial pressure Visual loss Dementia Glaucoma Cardiomyopathy Status epilepticus Neoplasm Blindness Retinopathy Facial palsy Retinal detachment Tremor Areflexia Polyneuropathy Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases


Confusion Peripheral axonal neuropathy Encephalopathy Hypogonadism Distal sensory impairment Irritability Sensory axonal neuropathy Gait ataxia Ophthalmoparesis Optic atrophy Progressive external ophthalmoplegia Hemiparesis Mental deterioration Spasticity Intellectual disability Cerebral cortical atrophy Bilateral ptosis Paresthesia Cognitive impairment Ptosis Myopathy Vascular neoplasm Hyporeflexia Myoclonus EEG abnormality Proximal muscle weakness Ophthalmoplegia Aplasia/Hypoplasia of the cerebellum Ragged-red muscle fibers Gliosis Brain atrophy Increased serum lactate Arrhythmia Diabetes mellitus Dysphonia External ophthalmoplegia Apathy Spastic paraparesis Paraparesis Sensory ataxia Dysphagia Multiple cafe-au-lait spots Generalized muscle weakness Vertigo Sensorimotor neuropathy Hypoplasia of the iris Abnormality of the nervous system Papule Pain Occasional neurofibromas Tinnitus Subcutaneous nodule Axonal loss Pseudoepiphyses of the metacarpals Microphthalmia Neoplasm of the central nervous system Anterior synechiae of the anterior chamber Neoplasm of the skin Microcephaly Dysgraphia Astrocytoma Subsarcolemmal accumulations of abnormally shaped mitochondria Muscle cramps Multiple mitochondrial DNA deletions Meningioma Congenital cataract Cytochrome C oxidase-negative muscle fibers Photophobia Intellectual disability, mild Vomiting Rigidity Infantile spasms Myalgia Perivascular spaces Severe global developmental delay Limb muscle weakness Lower limb muscle weakness Scotoma Memory impairment Congenital glaucoma Blurred vision Amenorrhea Bradykinesia Cerebral hemorrhage Ventricular hypertrophy Left ventricular hypertrophy Hemiplegia Parkinsonism Posterior embryotoxon Hypothyroidism Anterior segment developmental abnormality Rieger anomaly Arterial tortuosity Optic neuritis Neuritis Retinal hemorrhage Retinal arteriolar tortuosity Migraine with aura Peripapillary atrophy Porencephalic cyst Hypopigmentation of the fundus Right hemiplegia Retinal arterial tortuosity Cerebral atrophy Posterior leukoencephalopathy Thalamic hemorrhage Corneal neovascularization Short stature Skeletal muscle atrophy Fatigue Supraventricular tachycardia Ectopia pupillae Increased intraocular pressure Polycoria Respiratory insufficiency Diffuse leukoencephalopathy Deeply set eye Progressive muscle weakness Abnormality of immune system physiology Abnormality of the helix Retinal dysplasia Vitreoretinopathy Sclerocornea Abnormality of the vasculature Severe vision loss Narrow nasal bridge Venous insufficiency Abnormal retinal morphology Self-injurious behavior Ectopia lentis Cachexia Intellectual disability, progressive Opacification of the corneal stroma Clonus Abnormal pupil morphology Retinoblastoma Stereotypy Abnormal vitreous humor morphology Neoplasm of the eye Uterine rupture Aplasia/Hypoplasia of the lens Abnormal cochlea morphology Retinopathy of prematurity Abnormality of the diencephalon Corneal degeneration Posterior synechiae of the anterior chamber Retinal fold Phthisis bulbi Erectile abnormalities Leukocoria Abnormal chorioretinal morphology Shallow anterior chamber Exudative vitreoretinopathy Remnants of the hyaloid vascular system Hallucinations Psychosis Diplopia Resting tremor Failure to thrive Growth delay Scoliosis Limb-girdle muscle weakness Mitochondrial myopathy Bipolar affective disorder Insomnia Abnormality of the thyroid gland Cryptorchidism Coronary artery atherosclerosis Ventricular fibrillation Premature ovarian insufficiency Mutism EMG: myopathic abnormalities Exercise intolerance Bradycardia Muscular hypotonia Hyperreflexia Intellectual disability, profound Developmental regression Hypotelorism Sleep disturbance Thin vermilion border Retinal degeneration Delayed puberty Attention deficit hyperactivity disorder Protruding ear Abnormality of the eye Intellectual disability, severe Aggressive behavior Anxiety Macrotia Autism Malar flattening Behavioral abnormality Hypertonia Intracranial hemorrhage Abnormality of mitochondrial metabolism Leukoencephalopathy Cholestasis Epicanthus Hepatomegaly Frontal bossing Rod-cone dystrophy Abnormality of the liver Unsteady gait Nausea Cirrhosis Coma Sensory impairment Pigmentary retinopathy Type II diabetes mellitus Intention tremor Hypergonadotropic hypogonadism Juvenile posterior subcapsular lenticular opacities Bilateral single transverse palmar creases Agitation Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Fat malabsorption Biliary tract abnormality Hypertension Hydrocephalus Hyperhidrosis Abnormality of the kidney Neurological speech impairment Nausea and vomiting Multicystic kidney dysplasia Polycystic kidney dysplasia Capsular cataract Unilateral vestibular Schwannoma Telangiectasia of the skin Neurofibromas Dry skin Urinary incontinence Bilateral sensorineural hearing impairment Progressive sensorineural hearing impairment Arnold-Chiari type I malformation Hydrocele testis Cranial nerve paralysis Benign neoplasm of the central nervous system Reduced visual acuity Paralysis Progressive visual loss Cafe-au-lait spot Oral-pharyngeal dysphagia Hamartoma Peripheral Schwannoma Subcapsular cataract Posterior subcapsular cataract Schwannoma Lisch nodules Cortical cataract Epiretinal membrane Ependymoma Spinal cord tumor Decreased corneal sensation Vestibular Schwannoma Neuroma Retinal hamartoma Mononeuropathy Bilateral vestibular Schwannoma Hemiplegia/hemiparesis Renal cell carcinoma Amblyopia Strabismus Decreased number of peripheral myelinated nerve fibers Centrally nucleated skeletal muscle fibers Hyperventilation Progressive gait ataxia Intestinal pseudo-obstruction Positive Romberg sign Acute encephalopathy Gastroparesis Muscle fiber necrosis Impaired distal vibration sensation Impaired distal proprioception Sensory ataxic neuropathy Atrophy/Degeneration involving the spinal cord Myopia Axonal degeneration Cerebellar atrophy Dilatation Stroke Abnormality of the cerebral white matter Hypermetropia Astigmatism Tachycardia Hematuria Nephropathy Hypopigmentation of the skin Microcornea Renal cyst Tetraplegia Spastic tetraplegia Gaze-evoked nystagmus Vestibular dysfunction Multiple renal cysts Weight loss Capillary hemangioma Arteriovenous malformation Abnormality of the cerebral vasculature Abnormality of the pancreas Pheochromocytoma Pancreatic cysts Visceral angiomatosis Abnormality of the lymphatic system Neuroendocrine neoplasm Papillary cystadenoma of the epididymis Retinal capillary hemangioma Neoplasm of the middle ear Pneumonia Pes cavus Acidosis Mildly elevated creatine phosphokinase Distal muscle weakness Dilated cardiomyopathy Abnormality of eye movement Lactic acidosis Falls Progressive cerebellar ataxia Generalized myoclonic seizures Focal-onset seizure Neuronal loss in central nervous system Frequent falls Limb ataxia Cerebral visual impairment Increased variability in muscle fiber diameter Impotence Anterior chamber synechiae



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Hypertrophic cardiomyopathy, related diseases and genetic alterations Lymphoma and Proximal muscle weakness, related diseases and genetic alterations Lymphoma and Blindness, related diseases and genetic alterations Hydrocephalus and Progressive hearing impairment, related diseases and genetic alterations Myopathy and High, narrow palate, related diseases and genetic alterations

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