Cataract, and Peripheral axonal neuropathy

Diseases related with Cataract and Peripheral axonal neuropathy

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


Top matches:

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 X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5


X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5 Is also known as cmt5x|cmtx5|optic atrophy, polyneuropathy, and deafness|rosenberg-chutorian syndrome|charcot-marie-tooth neuropathy, x-linked recessive, 5

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5

Low match ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY


Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.

ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY Is also known as adult-onset multiple mtdna deletion syndrome due to dguok deficiency|progressive external ophthalmoplegia, autosomal recessive 4

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY

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Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46


Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46 Is also known as spg46

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46

Low match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Low match INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA Is also known as pagetoid neuroskeletal syndrome|msp1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with paget disease of bone|limb-girdle muscular dystrophy with paget disease of bone|ibmpfd|lower motor neuron degener

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Cataract
  • Skeletal muscle atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA

Low match SPINOCEREBELLAR ATAXIA WITH EPILEPSY


Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.

SPINOCEREBELLAR ATAXIA WITH EPILEPSY Is also known as mitochondrial spinocerebellar ataxia with epilepsy|mscae|sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive|scae

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH EPILEPSY

Low match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Low match METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Top 5 symptoms//phenotypes associated to Cataract and Peripheral axonal neuropathy

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Gait disturbance Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Peripheral axonal neuropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Elevated serum creatine phosphokinase Distal muscle weakness Tremor Dysarthria Seizures Cardiomyopathy Increased serum lactate Cerebral cortical atrophy Global developmental delay Dysphagia Cognitive impairment Sensorineural hearing impairment Nystagmus Scoliosis Myopathy Proximal muscle weakness Sensory neuropathy Lower limb muscle weakness Paresthesia Limb muscle weakness Gait ataxia Areflexia Hyporeflexia Pes cavus Distal amyotrophy Distal sensory impairment Frequent falls Skeletal muscle atrophy Ophthalmoplegia External ophthalmoplegia Ragged-red muscle fibers Progressive external ophthalmoplegia Progressive hearing impairment Spasticity Dementia Mental deterioration Sensory axonal neuropathy Brain atrophy Visual impairment Depressivity Short stature Migraine Status epilepticus Ptosis Intellectual disability Optic atrophy Falls Cerebellar atrophy Polyneuropathy Kyphosis Sensory ataxia Sensory impairment

Rare Symptoms - Less than 30% cases


Cerebral atrophy Hypogonadism Mitochondrial myopathy Encephalopathy Decreased number of peripheral myelinated nerve fibers Flexion contracture Headache Multiple mitochondrial DNA deletions Ophthalmoparesis Subsarcolemmal accumulations of abnormally shaped mitochondria Dysphonia Peripheral demyelination Frontal bossing Respiratory failure Onion bulb formation Segmental peripheral demyelination/remyelination Increased variability in muscle fiber diameter Neuronal loss in central nervous system Gliosis High forehead Progressive muscle weakness Mutism Generalized hypotonia Cytochrome C oxidase-negative muscle fibers EMG: myopathic abnormalities Bilateral ptosis Language impairment Respiratory insufficiency Paraparesis Axonal degeneration Abnormality of mitochondrial metabolism Confusion Rod-cone dystrophy Abnormality of the foot Sensorimotor neuropathy Broad-based gait Apathy Fasciculations Mildly elevated creatine phosphokinase Long face Pectus carinatum Congenital cataract Progressive cerebellar ataxia Delayed puberty Absence seizures Inability to walk Esotropia Midface retrusion Hydrocephalus Muscular hypotonia of the trunk Generalized myoclonic seizures Brachydactyly Hip dysplasia Depressed nasal bridge Cleft palate Dilated cardiomyopathy Optic nerve hypoplasia Aciduria Delayed speech and language development Hypertrophic cardiomyopathy Positive Romberg sign Limb ataxia Muscle fiber necrosis Severe short stature Cerebral visual impairment Gastroparesis Acute encephalopathy Intestinal pseudo-obstruction Abnormality of eye movement Progressive gait ataxia Hyperventilation Axonal loss Centrally nucleated skeletal muscle fibers Gaze-evoked nystagmus Vestibular dysfunction Impaired distal vibration sensation Lactic acidosis Deeply set eye Abnormality of the skeletal system Mandibular prognathia Upslanted palpebral fissure Delayed skeletal maturation Focal-onset seizure Absent speech Short nose Myopia Impaired distal proprioception Impotence Feeding difficulties Abnormal facial shape Micrognathia Atrophy/Degeneration involving the spinal cord Sensory ataxic neuropathy Clinodactyly of the 5th finger Spondylometaphyseal dysplasia Prominent forehead Absent primary metaphyseal spongiosa Rigidity Hypothyroidism Diabetes mellitus Arrhythmia Fatigue Pain Hyperplasia of the femoral trochanters Severe global developmental delay Halberd-shaped pelvis Dumbbell-shaped metaphyses Long coccyx Abnormal metaphyseal vascular invasion Relatively short spine Snail-like ilia Flared humeral metaphysis Myalgia Muscle cramps Hypoplastic cervical vertebrae Exercise intolerance Bipolar affective disorder Insomnia Resting tremor Abnormality of the thyroid gland Coronary artery atherosclerosis Ventricular fibrillation Premature ovarian insufficiency Bradycardia Generalized muscle weakness Diplopia Left ventricular hypertrophy Ventricular hypertrophy Bradykinesia Amenorrhea Memory impairment Parkinsonism Short diaphyses Flared femoral metaphysis Kyphoscoliosis Limb undergrowth Epiphyseal dysplasia Short ribs Abnormal form of the vertebral bodies Abnormality of the metaphysis Osteoarthritis Interphalangeal joint contracture of finger Abnormality of the ribs Micromelia Multiple joint contractures Narrow chest Arthrogryposis multiplex congenita Platyspondyly Camptodactyly of finger Joint stiffness Low-set, posteriorly rotated ears Skeletal dysplasia Akinesia Short finger Anisospondyly Thoracic kyphoscoliosis Abnormal enchondral ossification Cervical instability Severe platyspondyly Pseudoarthrosis Caudal appendage Abnormality of the intervertebral disk Long thorax Rough bone trabeculation Abnormal joint morphology Acidosis Enlarged joints Flared iliac wings Abnormal cortical bone morphology Fetal akinesia sequence Aplasia/Hypoplasia of the lungs Hypoplasia of the odontoid process EEG abnormality Limb-girdle muscular dystrophy Weight loss Brisk reflexes Spastic dysarthria Corpus callosum atrophy Head tremor Impaired vibration sensation in the lower limbs Progressive spastic paraplegia Ankle clonus Impaired vibratory sensation Limb dysmetria Truncal ataxia Spastic gait Lower limb spasticity Decreased testicular size Urinary incontinence Abnormal cerebellum morphology Upper limb spasticity Reduced sperm motility Paraplegia Hepatomegaly Unsteady gait Retinopathy Abnormality of the liver Irritability Photophobia Vomiting Epicanthus Knee clonus Sperm head anomaly Abnormal tendon morphology Upper limb dysmetria Abnormal sperm morphology Jerky ocular pursuit movements Impaired vibration sensation at ankles Dysmetria Infertility Cirrhosis Motor delay Bilateral sensorineural hearing impairment Optic disc pallor Progressive visual loss Pallor Reduced visual acuity Visual loss Segmental peripheral demyelination Macular atrophy Peripheral axonal degeneration Focal segmental glomerulosclerosis Steppage gait Glomerulosclerosis Neutropenia Edema Skeletal muscle hypertrophy Impaired pain sensation Abnormality of the cerebral white matter Rhabdomyolysis Spastic paraplegia Abnormal pyramidal sign Difficulty walking Babinski sign Hypoplasia of the corpus callosum Hyperreflexia Decreased nerve conduction velocity Optic neuropathy Hepatic failure Abnormal nerve conduction velocity Kinetic tremor Areflexia of lower limbs Excessive daytime somnolence Congenital nystagmus Nausea Coma Myoclonus Shoulder girdle muscle weakness Abnormality of calvarial morphology EMG: chronic denervation signs Shoulder girdle muscle atrophy Hip pain Pelvic girdle muscle weakness Upper motor neuron dysfunction Motor axonal neuropathy Fatty replacement of skeletal muscle EMG: neuropathic changes Progressive proximal muscle weakness Frontotemporal dementia Urinary bladder sphincter dysfunction Rimmed vacuoles Abnormality of the vertebral column Dyscalculia Motor neuron atrophy Difficulty climbing stairs Pelvic girdle amyotrophy Pneumonia Blindness Weakness of muscles of respiration Abnormal motor neuron morphology Ubiquitin-positive cerebral inclusion bodies Temporal cortical atrophy Abnormality of long bone morphology Calvarial hyperostosis Semantic dementia Scapuloperoneal weakness Elevated alkaline phosphatase of bone origin Frontal cortical atrophy Pelvic girdle muscle atrophy Cranial nerve compression Pathologic fracture Generalized amyotrophy Pigmentary retinopathy Agitation Congestive heart failure Ventriculomegaly Biliary tract abnormality Fat malabsorption Iris hypopigmentation Atrophy/Degeneration affecting the brainstem Spastic paraparesis Dilatation Bilateral single transverse palmar creases Hypergonadotropic hypogonadism Cholestasis Hemiparesis Intention tremor Type II diabetes mellitus Dystonia Facial palsy Dysphasia Elevated alkaline phosphatase Aphasia Amyotrophic lateral sclerosis Alzheimer disease Spinal muscular atrophy Back pain Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Hyperlordosis Scapular winging Osteolysis Tetraparesis Lumbar hyperlordosis Waddling gait Hepatic steatosis Muscular dystrophy Limb-girdle muscle weakness



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