Cataract, and Sensory neuropathy

Diseases related with Cataract and Sensory neuropathy

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


Top matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 25


Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 25 Is also known as disc herniation with spastic paraplegia, autosomal recessive|autosomal recessive spastic paraplegia-disc herniation syndrome|spg25

Related symptoms:

  • Pain
  • Spastic paraplegia
  • Congenital cataract
  • Sensory neuropathy
  • Sensorimotor neuropathy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 25

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B


Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cataract
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

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

Mendelian

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

Learn more

Other less relevant matches:

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 NEUROFIBROMATOSIS TYPE 2


Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.

NEUROFIBROMATOSIS TYPE 2 Is also known as nf2|bilateral acoustic neurofibromatosis|central neurofibromatosis

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 2

Low match PEROXISOME BIOGENESIS DISORDER 8B; PBD8B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8B; PBD8B

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Low match SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME


Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Low match HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH


Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH ) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels.Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, {188400}) is usually a sporadic condition (Taitz et al., 1966).

HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH Is also known as hypoparathyroidism, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH

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 Sensory neuropathy

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Optic 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 Sensory neuropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Tremor Paresthesia Rigidity Spasticity Gait disturbance Frequent falls Nystagmus Hearing impairment

Rare Symptoms - Less than 30% cases


Dementia Abnormality of the nervous system Global developmental delay Cognitive impairment Blindness Dysarthria Cerebellar atrophy Reduced visual acuity Abnormality of the cerebral white matter Unsteady gait Babinski sign Extrapyramidal muscular rigidity Lower limb spasticity Hyperreflexia Myopathy Neuronal loss in central nervous system Memory impairment Irritability Depressivity Mental deterioration Pain Resting tremor Sensory impairment Areflexia Gait ataxia Pes cavus Falls Hyperparathyroidism Corpus callosum atrophy Decreased liver function Head tremor Atrophy/Degeneration affecting the brainstem Leukodystrophy Spastic paraparesis Cerebellar vermis atrophy Growth delay Very long chain fatty acid accumulation Retinal dystrophy Abnormality of mitochondrial metabolism Lymphedema Motor delay Obesity Psychosis Urinary incontinence Progressive cerebellar ataxia Primitive reflex Abnormality of the cerebrospinal fluid Dysmetria Benign neoplasm of the central nervous system Tinnitus Multiple cafe-au-lait spots Meningioma Abnormality of the retinal vasculature Predominantly lower limb lymphedema Astrocytoma Dysgraphia Neoplasm of the central nervous system Pseudoepiphyses of the metacarpals Occasional neurofibromas Hypogonadism Pseudobulbar signs Generalized hypotonia Cataplexy Failure to thrive Narcolepsy Excessive daytime sleepiness Dysphagia Constipation Neonatal hypotonia Rod-cone dystrophy Abnormality of the kidney Polydactyly Abnormality of the dentition Cerebral atrophy Decreased circulating parathyroid hormone level Congenital hypoparathyroidism Abnormality of calcium-phosphate metabolism Tetany Hyperphosphatemia Hypoparathyroidism Basal ganglia calcification Arrhythmia Seizures Alopecia Generalized tonic-clonic seizures Nephropathy Delayed eruption of teeth Cerebral calcification Hypocalcemia Abnormality of dental enamel Brittle hair Short stature Intellectual disability Polyneuropathy Urinary urgency Diabetes mellitus Postaxial polydactyly Bradykinesia Renal dysplasia Spastic gait Cone/cone-rod dystrophy Impaired vibratory sensation Toe walking Macular dystrophy Hyperesthesia Lower limb hyperreflexia Ankle clonus Distal lower limb amyotrophy Distal lower limb muscle weakness Cystic renal dysplasia Lower limb hypertonia Cranial nerve paralysis Hydrometrocolpos Increased intracranial pressure Visual field defect Neoplasm of the skin Peripheral axonal degeneration Peripheral demyelination Glomerulosclerosis Steppage gait Focal segmental glomerulosclerosis Axonal degeneration Decreased number of peripheral myelinated nerve fibers Onion bulb formation Sensory ataxia Segmental peripheral demyelination/remyelination Segmental peripheral demyelination Distal sensory impairment Muscle cramps Abnormality of extrapyramidal motor function Reduced tendon reflexes Postural tremor Limited elbow extension Central scotoma Posterior subcapsular cataract Abnormality of the thumb Dyslexia Neutropenia Distal amyotrophy Areflexia of lower limbs Abnormality of the lumbar spine Congenital cataract Sensorimotor neuropathy Paraparesis Back pain Congenital glaucoma Spinal cord compression Abnormality of peripheral nerve conduction Lower limb pain Neck pain Cervical spondylosis Peripheral axonal neuropathy Herniation of intervertebral nuclei Upper limb pain Muscle weakness Edema Hyporeflexia Distal muscle weakness Limb muscle weakness Abnormality of the foot Lower limb muscle weakness Absent Achilles reflex Positive Romberg sign Subcutaneous nodule Visual hallucinations Language impairment Apathy Personality changes Aphasia Blurred vision Spastic paraplegia Muscle fibrillation Increased CSF protein Delusions Supranuclear gaze palsy Cerebral visual impairment Dysesthesia Normal pressure hydrocephalus Loss of facial expression Hirano bodies Facial palsy Corneal opacity Papule Vertigo Migraine Truncal ataxia Hallucinations Red-green dyschromatopsia Headache Cerulean cataract Tritanomaly Limited wrist movement Deviation of the 2nd finger Anterior subcapsular cataract Anterior cortical cataract Posterior cortical cataract Hydrocephalus Behavioral abnormality Recurrent infections Choreoathetosis Encephalopathy Myoclonus Anxiety Paralysis Abnormal pyramidal sign Confusion Neurodegeneration Abnormal cerebellum morphology Gliosis Hemiparesis Dilated third ventricle



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Colitis, related diseases and genetic alterations Hepatomegaly and Recurrent fractures, related diseases and genetic alterations Macrocephaly and Tapered finger, related diseases and genetic alterations Skeletal muscle atrophy and Paralysis, related diseases and genetic alterations Micrognathia and Pulmonic stenosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more