Cataract, and Hyperreflexia

Diseases related with Cataract and Hyperreflexia

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


Top matches:

Low match ALG2-CDG


ALG2-CDG is a form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.

ALG2-CDG Is also known as congenital disorder of glycosylation type 1i|cdg ii|cdgii|cdg syndrome type ii|mannosyltransferase 2 deficiency|carbohydrate deficient glycoprotein syndrome type ii|cdg1i|congenital disorder of glycosylation type ii|cdg-ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG2-CDG

Low match PEROXISOME BIOGENESIS DISORDER 10B; PBD10B


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10B; PBD10B

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

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Other less relevant matches:

Low match HYPOMYELINATION-CONGENITAL CATARACT SYNDROME


Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

HYPOMYELINATION-CONGENITAL CATARACT SYNDROME Is also known as hypomyelination and congenital cataract: hcc

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOMYELINATION-CONGENITAL CATARACT SYNDROME

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 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 SPORADIC CREUTZFELDT-JAKOB DISEASE


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

Low match PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME


Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

Low match MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID


MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID

Top 5 symptoms//phenotypes associated to Cataract and Hyperreflexia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Tremor Ataxia Generalized hypotonia Dysarthria Gait ataxia Intellectual disability, moderate Intention tremor Truncal ataxia Motor delay Cognitive impairment Abnormal pyramidal sign

Rare Symptoms - Less than 30% cases


Scoliosis Abnormality of metabolism/homeostasis Skeletal muscle atrophy Rigidity Gait disturbance Abnormal cerebellum morphology Cerebellar atrophy Cerebellar hypoplasia Babinski sign Muscle weakness Congenital cataract Poor speech Dysmetria Progressive cerebellar ataxia Intellectual disability, mild Peripheral neuropathy Toe walking Broad-based gait Hepatomegaly Visual impairment Strabismus Microcephaly Short stature Muscular hypotonia of the trunk CNS hypomyelination Memory impairment Neuronal loss in central nervous system Hemiparesis Choreoathetosis Hallucinations Cystic renal dysplasia Cerebral visual impairment Language impairment Gliosis Personality changes Aphasia Blurred vision Visual field defect Muscle fibrillation Apathy Confusion Neurodegeneration Dementia Myopathy Behavioral abnormality Headache Recurrent infections Depressivity Encephalopathy Myoclonus Unsteady gait Reduced visual acuity Anxiety Mental deterioration Irritability Paralysis Increased connective tissue Increased CSF protein Spinal rigidity Delusions Difficulty walking Muscular dystrophy Polydactyly Hyperlordosis Abnormality of the kidney Proximal muscle weakness Abnormality of the cerebral white matter Cerebral calcification Dilatation Progressive neurologic deterioration Elevated serum creatine phosphokinase Hyporeflexia Respiratory insufficiency Postnatal microcephaly Ectopic kidney Hydrocephalus Lower limb spasticity Visual hallucinations Spastic gait Flexion contracture Increased variability in muscle fiber diameter Supranuclear gaze palsy Congenital muscular dystrophy Dysesthesia Gowers sign Normal pressure hydrocephalus Edema Loss of facial expression Extrapyramidal muscular rigidity Progressive muscle weakness Hirano bodies Cryptorchidism Ventriculomegaly Blindness Fatigue Tortuosity of conjunctival vessels Pachygyria Absent speech Pes planus Neonatal hypotonia Abnormality of the eye Abnormality of movement Arachnodactyly Cerebral palsy Delayed speech and language development Abnormality of vision Dysdiadochokinesis Hypoplasia of the brainstem Cortical gyral simplification Gaze-evoked nystagmus Nonprogressive cerebellar ataxia Intellectual disability, severe Muscular hypotonia Developmental regression High forehead Coloboma Iris coloboma Hypsarrhythmia Abnormality of coagulation Low-set ears Posteriorly rotated ears Jaundice Neurogenic bladder Spastic paraplegia Paraparesis Nephrocalcinosis Spastic paraparesis Prolonged neonatal jaundice Inverted nipples Feeding difficulties Lower limb muscle weakness Abnormal enzyme/coenzyme activity Ankle clonus Fasciculations Horizontal nystagmus EMG abnormality Macular degeneration Slurred speech Brisk reflexes Progressive gait ataxia Limb ataxia Slow saccadic eye movements Saccadic smooth pursuit Dysmetric saccades Leg muscle stiffness Hypermetric saccades Downbeat nystagmus Diplopia Generalized-onset seizure Polyneuropathy Motor polyneuropathy Leukodystrophy Decreased motor nerve conduction velocity Axonal degeneration Axonal loss Onion bulb formation Titubation Lower limb amyotrophy Retinal detachment Loss of ability to walk Cerebral hypomyelination Cerebral white matter atrophy Truncal titubation Progressive cataract Ptosis Pes cavus Increased adipose tissue



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Spinal muscular atrophy, related diseases and genetic alterations Congestive heart failure and Arrhythmia, related diseases and genetic alterations Ptosis and Hydrocephalus, related diseases and genetic alterations Cardiomyopathy and Microtia, related diseases and genetic alterations Peripheral neuropathy and Hydronephrosis, related diseases and genetic alterations

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