Cataract, and Cerebellar atrophy

Diseases related with Cataract and Cerebellar atrophy

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


Top matches:

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24


Related symptoms:

  • Ataxia
  • Growth delay
  • Nystagmus
  • Cataract
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

Low match CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME


Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.

CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME Is also known as congenital cataract-deafness-severe developmental delay syndrome|lethal neurodegenerative disorder due to copper transport defect

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME

Low match MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY


Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

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Other less relevant matches:

Low match DYSEQUILIBRIUM SYNDROME


Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

Low match MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2


Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

Low match AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT


Autosomal dominant optic atrophy and cataract (ADOAC) is a form of autosomal dominant optic atrophy (ADOA; see this term) characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. ADOAC is caused by mutations in the OPA3 gene (19q13.32).

AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT Is also known as optic atrophy and cataract, autosomal dominant|opa3, autosomal dominant|autosomal dominant optic atrophy type 3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT

Low match ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA


Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).

ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as scar10|autosomal recessive spinocerebellar ataxia type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Low match POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME


Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME Is also known as peripheral neuropathy, fiskerstrand type|pharc syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME

Low match SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY


Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

Low match AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME


Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME Is also known as adca-dn syndrome

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Cerebellar atrophy

Symptoms // Phenotype % cases
Nystagmus Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Tremor Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Gait ataxia Microcephaly Intellectual disability Hyperreflexia Cerebral atrophy Optic atrophy Dysarthria Global developmental delay Intention tremor Progressive cerebellar ataxia Pes cavus Dysmetria Growth delay Broad-based gait Short stature Cortical gyral simplification Flexion contracture Babinski sign Generalized hypotonia Hearing impairment

Rare Symptoms - Less than 30% cases


Limb ataxia Blindness Visual impairment Congenital cataract Severe global developmental delay Gait disturbance Unsteady gait Areflexia Ptosis Cerebellar hypoplasia Intellectual disability, moderate Neonatal hypotonia Strabismus Sensorineural hearing impairment Peripheral neuropathy Absent speech Spastic gait Truncal ataxia Hypoplasia of the brainstem Polyneuropathy Abnormality of the nervous system Delayed speech and language development Posterior subcapsular cataract Intrauterine growth retardation Micrognathia Neuronal loss in central nervous system Resting tremor Sloping forehead Hypermetric saccades Diplopia Generalized-onset seizure Nyctalopia Retinal detachment Fasciculations Retinal degeneration Distal amyotrophy Distal sensory impairment Intellectual disability, mild Generalized myoclonic seizures Rod-cone dystrophy EMG abnormality Hyporeflexia Horizontal nystagmus Downbeat nystagmus Macular degeneration Slurred speech Brisk reflexes Ankle clonus Progressive gait ataxia Tortuosity of conjunctival vessels Slow saccadic eye movements Saccadic smooth pursuit Dysmetric saccades Abnormal enzyme/coenzyme activity Leg muscle stiffness Primitive reflex Hypertelorism Sensorimotor neuropathy Urinary incontinence Depressivity Dementia Diabetes mellitus Cataplexy Mental deterioration Abnormality of the cerebral white matter Sensory neuropathy Memory impairment Spastic tetraparesis Psychosis Lymphedema Abnormality of mitochondrial metabolism Atrophy/Degeneration affecting the brainstem Narcolepsy Excessive daytime sleepiness Abnormality of the cerebrospinal fluid Progressive spastic quadriplegia Pseudobulbar signs Decreased nerve conduction velocity Short nose Hammertoe Subcapsular cataract Achilles tendon contracture Stuttering Head tremor Abnormal facial shape Abnormality of the skeletal system Long philtrum Predominantly lower limb lymphedema Macrotia Coarse facial features Thin upper lip vermilion Smooth philtrum Highly arched eyebrow Tetraparesis Rhizomelia Fatigue Rigidity Posterior cortical cataract Skeletal muscle atrophy Abnormality of the cerebrum Abnormality of the cerebral cortex Abnormal neuron morphology Muscular hypotonia Cognitive impairment Motor delay Intellectual disability, severe Profound global developmental delay Abnormality of metabolism/homeostasis Pes planus Abnormality of the eye Poor speech Abnormality of movement Arachnodactyly Small cerebral cortex Choanal atresia Cerebral palsy Hypocupremia Neurodegeneration Neutropenia Dandy-Walker malformation Cerebellar vermis hypoplasia CNS hypomyelination Rotary nystagmus Decreased serum ceruloplasmin Delayed myelination Ventriculomegaly Prominent nasal bridge Small for gestational age Arthrogryposis multiplex congenita Abnormal cerebellum morphology Gliosis Brain atrophy Pachygyria Abnormality of vision Anterior cortical cataract Areflexia of lower limbs Postural tremor Limited elbow extension Central scotoma Abnormality of the thumb Dyslexia Absent Achilles reflex Positive Romberg sign Abnormality of extrapyramidal motor function Red-green dyschromatopsia Cerulean cataract Tritanomaly Limited wrist movement Extrapyramidal muscular rigidity Deviation of the 2nd finger Anterior subcapsular cataract Reduced tendon reflexes Sensory impairment Dysdiadochokinesis Retinopathy Toe walking Gaze-evoked nystagmus Nonprogressive cerebellar ataxia Microphthalmia Severe short stature Proptosis Microcornea Muscle cramps Prominent nose Optic disc pallor Optic nerve hypoplasia Macular atrophy Pain Reduced visual acuity Paresthesia Dilated third ventricle



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