Cataract, and Cerebral atrophy

Diseases related with Cataract and Cerebral atrophy

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


Top matches:

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

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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 SEVERE NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES-STEREOTYPIC HAND MOVEMENT-BILATERAL CATARACT


Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by Schoch et al., 2017).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES-STEREOTYPIC HAND MOVEMENT-BILATERAL CATARACT

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B


Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

Low match USHER SYNDROME TYPE 1


Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

USHER SYNDROME TYPE 1 Is also known as ush1|retinitis pigmentosa and congenital deafness|us1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about USHER SYNDROME TYPE 1

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cerebral cortical atrophy Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Absent speech Cerebellar atrophy Delayed myelination Intrauterine growth retardation Generalized hypotonia Spasticity

Rare Symptoms - Less than 30% cases


Short stature Aplasia/Hypoplasia of the cerebellum Blindness Depressivity Visual loss Rod-cone dystrophy Anxiety Nyctalopia Hallucinations Abnormality of dental enamel Schizophrenia Motor delay Mutism Abnormal electroretinogram Vestibular dysfunction Strabismus Scotoma Iris hypopigmentation Hemianopia Subcortical cerebral atrophy Delayed speech and language development Micrognathia Sensorineural hearing impairment Flexion contracture Difficulty walking Sloping forehead Scoliosis Cortical gyral simplification Myopia Growth delay Ataxia Congenital cataract Irritability Brain atrophy Nystagmus Severe global developmental delay Feeding difficulties Stereotypy Kyphoscoliosis Postural tremor Foot dorsiflexor weakness Spastic gait Urinary incontinence Tetraplegia Unsteady gait Paraplegia Limb muscle weakness Abnormality of the cerebral white matter Spastic paraplegia Failure to thrive Abnormality of movement Babinski sign Agenesis of corpus callosum Gait disturbance Tremor Impaired vibratory sensation Dysarthria Hyperreflexia Intellectual disability, mild Abnormal facial shape Developmental regression Broad nasal tip Hypsarrhythmia Muscle weakness Poor head control Skeletal muscle atrophy Abnormality of the periventricular white matter Toe walking Psychosis Abnormal cochlea morphology Vestibular hypofunction Tapetoretinal degeneration Undetectable electroretinogram Chronic sinusitis Peripheral visual field loss Severe hearing impairment High hypermetropia Decreased fertility Progressive hearing impairment Sinusitis Bronchiectasis Clumsiness Progressive visual loss Lower limb hyperreflexia Abnormality of the eye Impaired continence Impaired vibration sensation at ankles Hyperreflexia in upper limbs Pollakisuria Pseudobulbar paralysis Primitive reflex Urinary retention Absent Achilles reflex Corpus callosum atrophy Mild microcephaly Loss of speech Right ventricular dilatation Exercise-induced muscle fatigue Hyperkinesis Progressive proximal muscle weakness Epileptic encephalopathy Cardiomyopathy Neuronal loss in central nervous system Gliosis Abnormal cerebellum morphology Arthrogryposis multiplex congenita Small for gestational age Prominent nasal bridge Ventriculomegaly Encephalopathy Abnormality of the inner ear Mild hearing impairment Abnormality of dental color Status epilepticus Profound global developmental delay Severe muscular hypotonia High pitched voice Delayed CNS myelination Limb tremor Neurodegeneration Microdontia Carious teeth Neutropenia Dandy-Walker malformation Cerebellar vermis hypoplasia CNS hypomyelination Rotary nystagmus Hypocupremia Choanal atresia Small cerebral cortex Restrictive ventilatory defect Prominent nose Limb-girdle muscular dystrophy Decreased serum ceruloplasmin Infantile muscular hypotonia Truncal ataxia Chorea Myalgia Lower limb spasticity Myopathy Progressive spastic paraplegia Macular atrophy Hypoplasia of the brainstem Optic nerve hypoplasia Optic disc pallor Microcornea Abnormality of the cerebrum Retinopathy Proptosis Severe short stature Cerebellar hypoplasia Microphthalmia Optic atrophy Visual impairment Hand tremor Spastic dysarthria Abnormal myelination Aplasia/Hypoplasia of the cerebellar vermis Abnormal neuron morphology Abnormality of the cerebral cortex Absent vestibular function



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Optic disc pallor, related diseases and genetic alterations Dysarthria and Chorea, related diseases and genetic alterations Visual impairment and Progressive neurologic deterioration, related diseases and genetic alterations Low-set ears and Pulmonary hypoplasia, related diseases and genetic alterations Peripheral neuropathy and Neurological speech impairment, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more