Cataract, and Tremor

Diseases related with Cataract and Tremor

In the following list you will find some of the most common rare diseases related to Cataract and Tremor 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 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6


EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 Is also known as cortical myoclonic tremor with epilepsy, familial, 6|benign adult familial myoclonic epilepsy 6|fcmte6|bafme6

Related symptoms:

  • Seizures
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6

Mendelian

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

Learn more

Other less relevant matches:

Low match MEGALOCORNEA


Related symptoms:

  • Cataract
  • Tremor
  • Glaucoma
  • Astigmatism
  • Megalocornea


SOURCES: OMIM MENDELIAN

More info about MEGALOCORNEA

Low match ADAN AMYLOIDOSIS


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

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 COCKAYNE SYNDROME TYPE 3


COCKAYNE SYNDROME TYPE 3 Is also known as cockayne syndrome type iii

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 3

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 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG


For a general description of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ). Complementation group G has one of the smallest series of cases (Arlett et al., 1980).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG Is also known as xp, group g|xpgc|xeroderma pigmentosum vii|xp7

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

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

Top 5 symptoms//phenotypes associated to Cataract and Tremor

Symptoms // Phenotype % cases
Hearing impairment Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intention tremor Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Seizures

Rare Symptoms - Less than 30% cases


Cutaneous photosensitivity Abnormality of movement Generalized hypotonia Intrauterine growth retardation Short stature Intellectual disability Encephalopathy Broad-based gait Abnormality of metabolism/homeostasis Gait disturbance Skeletal muscle atrophy Infantile spasms Dysarthria Bilateral microphthalmos Hyperreflexia Congenital cataract Nystagmus Motor delay Delayed speech and language development Cognitive impairment Neoplasm of the skin Muscular hypotonia Strabismus Defective DNA repair after ultraviolet radiation damage Cerebellar hypoplasia Intellectual disability, severe Progressive cerebellar ataxia Gaze-evoked nystagmus Cortical gyral simplification Toe walking Hypoplasia of the brainstem Dysdiadochokinesis Abnormality of vision Cerebral palsy Truncal ataxia Pachygyria Arachnodactyly Cerebellar atrophy Dysmetria Poor speech Abnormality of the eye Intellectual disability, moderate Neonatal hypotonia Pes planus Gait ataxia Erythema Babinski sign Absent speech Small for gestational age Severe muscular hypotonia Mental deterioration Dementia Cerebral cortical atrophy Agenesis of corpus callosum Intellectual disability, mild Cerebral amyloid angiopathy Posterior polar cataract Neurofibrillary tangles Psychosis Mosaic corneal dystrophy Progressive spastic paraplegia Increased corneal thickness Iridodonesis Lens subluxation Corneal arcus Miosis Megalocornea Astigmatism Glaucoma Lower limb spasticity Hand tremor Pes cavus Brain atrophy Microphthalmia Growth delay Limb tremor Delayed CNS myelination High pitched voice Status epilepticus Epileptic encephalopathy Delayed myelination Irritability Spastic dysarthria Cerebral atrophy Cardiomyopathy Feeding difficulties Severe photosensitivity Carious teeth Failure to thrive Aplasia/Hypoplasia of the cerebellar vermis Abnormal myelination Nonprogressive cerebellar ataxia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Retinoblastoma, related diseases and genetic alterations Epicanthus and Ventriculomegaly, related diseases and genetic alterations Low-set ears and Abnormality of the skeletal system, related diseases and genetic alterations Peripheral neuropathy and Muscle cramps, related diseases and genetic alterations Muscle weakness and Babinski sign, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more