Cataract, and Headache

Diseases related with Cataract and Headache

In the following list you will find some of the most common rare diseases related to Cataract and Headache 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 SPORADIC CREUTZFELDT-JAKOB DISEASE


Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

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

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Other less relevant matches:

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

Low match HANAC SYNDROME


Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.

HANAC SYNDROME Is also known as hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome|autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Related symptoms:

  • Seizures
  • Strabismus
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HANAC SYNDROME

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

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 PITUITARY ADENOMA 5, MULTIPLE TYPES; PITA5


Both familial and sporadic pituitary adenomas have been found to be caused by germline mutation in the CDH23 gene. Familial pituitary adenoma types include growth hormone (GH)-secreting and nonfunctional tumors. Sporadic pituitary adenoma types include GH-secreting, nonfunctional, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors.For a general description and a discussion of genetic heterogeneity of pituitary adenomas, see PITA1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Headache
  • Pituitary adenoma


SOURCES: OMIM MENDELIAN

More info about PITUITARY ADENOMA 5, MULTIPLE TYPES; PITA5

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

Top 5 symptoms//phenotypes associated to Cataract and Headache

Symptoms // Phenotype % cases
Visual impairment Uncommon - Between 30% and 50% cases
Migraine Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Sensory neuropathy

Rare Symptoms - Less than 30% cases


Papule Vertigo Gait disturbance Corneal opacity Facial palsy Hemiparesis Unsteady gait Confusion Paralysis Subcutaneous nodule Tinnitus Neoplasm of the skin Increased intracranial pressure Mental deterioration Multiple cafe-au-lait spots Meningioma Abnormality of the retinal vasculature Astrocytoma Dysgraphia Neoplasm of the central nervous system Pseudoepiphyses of the metacarpals Occasional neurofibromas Hearing impairment Visual loss Sensorimotor neuropathy Neoplasm Irritability Apathy Reduced visual acuity Photophobia Tremor Gait ataxia Blindness Spasticity Encephalopathy Depressivity Vomiting Progressive hearing impairment Muscle weakness Polyneuropathy Atrophy/Degeneration affecting the brainstem Schwannoma Bilateral single transverse palmar creases Agitation Spastic paraparesis Paraparesis Posterior subcapsular cataract Hypergonadotropic hypogonadism Cholestasis Lisch nodules Iris hypopigmentation Neurofibromas Subcapsular cataract Abnormality of metabolism/homeostasis Retinal hemorrhage Arterial tortuosity Macroscopic hematuria Perivascular spaces Retinal arteriolar tortuosity Retinal arterial tortuosity Fat malabsorption Axonal loss Pain Generalized muscle weakness Progressive visual loss Cafe-au-lait spot Oral-pharyngeal dysphagia Hamartoma Intention tremor Type II diabetes mellitus Status epilepticus Frontal bossing Global developmental delay Epicanthus Hepatomegaly Dysarthria Coma Optic atrophy Rod-cone dystrophy Supraventricular arrhythmia Hypogonadism Abnormality of the liver Retinopathy Distal sensory impairment Cirrhosis Peripheral axonal neuropathy Pituitary adenoma Capsular cataract Nausea Decreased corneal sensation Pigmentary retinopathy Sensory impairment Cortical cataract Epiretinal membrane Ependymoma Spinal cord tumor Vestibular Schwannoma Juvenile posterior subcapsular lenticular opacities Neuroma Retinal hamartoma Mononeuropathy Bilateral vestibular Schwannoma Peripheral Schwannoma Unilateral vestibular Schwannoma Retinal vascular tortuosity Intellectual disability Raynaud phenomenon Myoclonus Personality changes Language impairment Truncal ataxia Cerebral visual impairment Hallucinations Choreoathetosis Neuronal loss in central nervous system Memory impairment Gliosis Abnormal cerebellum morphology Neurodegeneration Abnormal pyramidal sign Anxiety Rigidity Dementia Blurred vision Bilateral sensorineural hearing impairment Nystagmus Intellectual disability, mild Areflexia Congenital cataract Dry skin Urinary incontinence Progressive sensorineural hearing impairment Recurrent infections Arnold-Chiari type I malformation Hydrocele testis Hyperreflexia Hydrocephalus Myopathy Behavioral abnormality Aphasia Visual field defect Microscopic hematuria Arrhythmia Multiple renal cysts Hypoplasia of the iris Posterior embryotoxon Dilatation of the cerebral artery Cerebral hemorrhage Hemiplegia Ischemic stroke Leukoencephalopathy Muscle cramps Renal cyst Hematuria Nephropathy Stroke Elevated serum creatine phosphokinase Dilatation Muscle fibrillation Loss of facial expression Increased CSF protein Delusions Visual hallucinations Supranuclear gaze palsy Dysesthesia Normal pressure hydrocephalus Extrapyramidal muscular rigidity Renal insufficiency Hirano bodies Cranial nerve paralysis Benign neoplasm of the central nervous system Strabismus Flexion contracture Cerebellar atrophy Biliary tract abnormality



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