Cataract, and Encephalopathy

Diseases related with Cataract and Encephalopathy

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

Top matches:

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

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

ADan amyloidosis is a rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.

ADAN AMYLOIDOSIS Is also known as heredopathia ophthalmootoencephalica|dementia, familial danish|hooe|cerebellar ataxia, cataract, deafness, and dementia or psychosis|familial dementia, danish type|fdd|familial danish dementia

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cataract
  • Spasticity
  • Tremor


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ADAN AMYLOIDOSIS

Other less relevant matches:

Early infantile epileptic encephalopathy-35 is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. Many patients die in early childhood (summary by Kevelam et al., 2015)For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see {308350}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ITPA-RELATED ENCEPHALOPATHY

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

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Is also known as vogt-spielmeyer disease|batten disease|spielmeyer-sjogren disease|jncl|neuronal ceroid lipofuscinosis, juvenile

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

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

3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

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

Top 5 symptoms//phenotypes associated to Cataract and Encephalopathy

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Depressivity Myoclonus Cardiomyopathy Gait ataxia Visual impairment Global developmental delay Generalized hypotonia Blindness Headache Confusion Abnormal pyramidal sign Gliosis Neuronal loss in central nervous system Choreoathetosis Intellectual disability Dysarthria Pneumonia Peripheral neuropathy Dystonia Psychosis Cerebral atrophy Status epilepticus Irritability Microcephaly Brain atrophy Dementia

Rare Symptoms - Less than 30% cases

Clumsiness EEG abnormality Migraine Nystagmus Pes cavus Spastic paraparesis Gait disturbance Growth delay Apathy Cognitive impairment Polyneuropathy Optic atrophy Cerebellar atrophy Cerebral visual impairment Elevated serum creatine phosphokinase Hearing impairment Rod-cone dystrophy Distal sensory impairment Parkinsonism Peripheral axonal neuropathy Pigmentary retinopathy Mildly elevated creatine phosphokinase Progressive encephalopathy Flexion contracture Paraparesis Dysphagia Abnormal cerebellum morphology Abnormality of extrapyramidal motor function Increased serum lactate Hyperreflexia Myopathy Behavioral abnormality Intention tremor Rigidity Anxiety Feeding difficulties Unsteady gait Recurrent infections Hemiparesis Memory impairment Spastic gait Small hand Tetraplegia Apraxia Spastic tetraplegia Postnatal microcephaly Acute myeloid leukemia Absent speech Delayed speech and language development Drooling Progressive spasticity Restlessness Poor coordination Facial hypotonia Macroorchidism Bruxism Shuffling gait Macrocephaly Dyslexia Paraplegia Intellectual disability, mild Kyphosis Macrotia Micrognathia Excessive salivation Scoliosis Congenital neutropenia High palate Abnormality of the dentition Babinski sign 3-Methylglutaconic aciduria Muscular hypotonia of the trunk Dysgraphia Intellectual disability, severe Short neck Spastic paraplegia Upper motor neuron dysfunction Genu valgum Slender build Muscle fiber necrosis Progressive spastic paraparesis Hyperventilation Ophthalmoparesis Increased variability in muscle fiber diameter Sensory axonal neuropathy Impotence Vestibular dysfunction Axonal degeneration Gaze-evoked nystagmus Decreased number of peripheral myelinated nerve fibers Centrally nucleated skeletal muscle fibers Axonal loss Sensory ataxic neuropathy Bilateral ptosis Subsarcolemmal accumulations of abnormally shaped mitochondria Progressive external ophthalmoplegia Multiple mitochondrial DNA deletions Progressive gait ataxia Sensory ataxia Impaired distal proprioception Impaired distal vibration sensation Intestinal pseudo-obstruction Cytochrome C oxidase-negative muscle fibers Positive Romberg sign Acute encephalopathy Abnormality of mitochondrial metabolism Ragged-red muscle fibers Mania Ophthalmoplegia Juvenile cataract Sensorineural hearing impairment Muscle weakness Ptosis Areflexia Hyporeflexia Weight loss Acidosis Proximal muscle weakness Distal muscle weakness Dilated cardiomyopathy Gastroparesis Progressive hearing impairment Abnormality of eye movement Paresthesia Lactic acidosis Falls Progressive cerebellar ataxia Generalized myoclonic seizures Focal-onset seizure Opisthotonus Frequent falls Limb ataxia External ophthalmoplegia Myeloid leukemia Sensory neuropathy Myelodysplasia Hypertrophic cardiomyopathy Supranuclear gaze palsy Dysesthesia Normal pressure hydrocephalus Loss of facial expression Extrapyramidal muscular rigidity Hirano bodies Muscular hypotonia Visual loss Glaucoma Retinal degeneration Delusions Nevus Progressive visual loss Generalized-onset seizure Aspiration Macular degeneration Mutism Retinal atrophy Aspiration pneumonia Pendular nystagmus Visual hallucinations Increased CSF protein Tapetoretinal degeneration Limb tremor Neurofibrillary tangles Posterior polar cataract Cerebral amyloid angiopathy Intrauterine growth retardation Delayed myelination Epileptic encephalopathy Severe muscular hypotonia High pitched voice Delayed CNS myelination Hydrocephalus Muscle fibrillation Reduced visual acuity Paralysis Neurodegeneration Hallucinations Truncal ataxia Language impairment Personality changes Aphasia Blurred vision Visual field defect Undetectable electroretinogram Vegetative state Progressive neurologic deterioration Biliary tract abnormality Type II diabetes mellitus Cholestasis Sensorimotor neuropathy Hypergonadotropic hypogonadism Bilateral single transverse palmar creases Agitation Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Fat malabsorption Abnormal facial shape Coma Hyperactivity Respiratory failure Hypothyroidism Neonatal hypotonia Developmental regression Attention deficit hyperactivity disorder Leukemia Abnormality of movement Neutropenia Aciduria Sensory impairment Abnormality of metabolism/homeostasis Psychomotor deterioration Cerebral degeneration Oromandibular dystonia Vacuolated lymphocytes Autophagic vacuoles Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Concentric hypertrophic cardiomyopathy Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Presenile cataracts Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Increased extraneuronal autofluorescent lipopigment Cirrhosis Progressive inability to walk Epicanthus Hepatomegaly Frontal bossing Vomiting Hypogonadism Photophobia Abnormality of the liver Retinopathy Nausea Atrophy/Degeneration involving the spinal cord


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