Cataract, and Brain atrophy

Diseases related with Cataract and Brain atrophy

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


Top matches:

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 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69


Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69 Is also known as spg69

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Cataract
  • Intellectual disability, mild
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69

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Other less relevant matches:

Low match ITPA-RELATED ENCEPHALOPATHY


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

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 USHER SYNDROME TYPE 2


Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

USHER SYNDROME TYPE 2 Is also known as ush2

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 2

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

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 INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME

Low match CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3


Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Cerebral atrophy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar atrophy Micrognathia Hearing impairment

Rare Symptoms - Less than 30% cases


Severe global developmental delay Cortical gyral simplification Microphthalmia Myopia Strabismus Congenital cataract Flexion contracture Growth delay Nystagmus Intellectual disability Delayed myelination Cerebellar hypoplasia Generalized hypotonia Sloping forehead Ventriculomegaly Arthrogryposis multiplex congenita Cerebral cortical atrophy Choanal atresia Prominent nasal bridge Optic atrophy Visual impairment Small for gestational age Gliosis Abnormal cerebellum morphology Profound global developmental delay Short stature Neuronal loss in central nervous system Abnormal neuron morphology Abnormality of the cerebral cortex Abnormality of the cerebrum Severe short stature Small cerebral cortex Low-set ears Proptosis Cutaneous photosensitivity Exercise-induced muscle fatigue Right ventricular dilatation Progressive proximal muscle weakness Talipes equinovarus Edema Restrictive ventilatory defect Limb-girdle muscular dystrophy Decreased fetal movement Hyperkinesis Infantile muscular hypotonia Truncal ataxia Retinopathy Chorea Myalgia Difficulty walking Myopathy Scoliosis Macular atrophy Hypoplasia of the brainstem Optic nerve hypoplasia Optic disc pallor Cleft palate Microcornea Prominent nose Scotoma Spasticity Irritability Dandy-Walker malformation Neutropenia Neurodegeneration Absent speech Limb tremor Delayed CNS myelination High pitched voice Severe muscular hypotonia Status epilepticus Epileptic encephalopathy Encephalopathy CNS hypomyelination Cardiomyopathy Feeding difficulties Aplasia/Hypoplasia of the cerebellar vermis Abnormal myelination Spastic dysarthria Hand tremor Progressive spastic paraplegia Lower limb spasticity Abnormality of movement Agenesis of corpus callosum Intellectual disability, mild Cerebellar vermis hypoplasia Rotary nystagmus Abnormality of the inner ear Abnormality of dental enamel Mild hearing impairment Abnormality of dental color Subcortical cerebral atrophy Hemianopia Iris hypopigmentation Abnormality of metabolism/homeostasis Vestibular dysfunction Aplasia/Hypoplasia of the cerebellum Abnormal electroretinogram Schizophrenia Hallucinations Hypocupremia Microdontia Carious teeth Nyctalopia Anxiety Rod-cone dystrophy Visual loss Depressivity Blindness Sensorineural hearing impairment Ataxia Decreased serum ceruloplasmin Rocker bottom foot



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Umbilical hernia, related diseases and genetic alterations Tremor and Arthrogryposis multiplex congenita, related diseases and genetic alterations Skeletal muscle atrophy and Tachycardia, related diseases and genetic alterations High palate and Hyperactivity, related diseases and genetic alterations Nystagmus and Obesity, related diseases and genetic alterations

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