Cataract, and Polyneuropathy

Diseases related with Cataract and Polyneuropathy

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


Top matches:

Medium match AGEL AMYLOIDOSIS


AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

Medium 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

Medium match PEROXISOME BIOGENESIS DISORDER 14B; PEX14B


PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (OMIM ) spectrum' (ZSS) disorder. See PBD1B (OMIM ) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (OMIM ) for another atypical peroxisome biogenesis disorder.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 14B; PEX14B

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Other less relevant matches:

Medium match POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME


Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME Is also known as peripheral neuropathy, fiskerstrand type|pharc syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME

Medium 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

Medium 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

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 5A


Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 5A Is also known as spg5a

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 5A

Medium match PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


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 PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Medium match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Medium 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

Top 5 symptoms//phenotypes associated to Cataract and Polyneuropathy

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Tremor Spasticity Global developmental delay Intellectual disability Rod-cone dystrophy Optic atrophy Sensorimotor neuropathy Hyperreflexia Babinski sign Pes cavus Distal sensory impairment Seizures Areflexia Sensory impairment Paraparesis Sensory neuropathy Muscle weakness Scoliosis Generalized hypotonia Intention tremor Gait disturbance Urinary incontinence Cerebellar atrophy Congenital cataract Lower limb muscle weakness

Rare Symptoms - Less than 30% cases


Dry skin Photophobia Progressive hearing impairment Blindness Headache Bilateral sensorineural hearing impairment Vomiting Cognitive impairment Flexion contracture Spastic paraparesis Hyporeflexia Depressivity Atrophy/Degeneration affecting the brainstem Peripheral axonal neuropathy Abnormality of the cerebral white matter Mental deterioration Visual impairment Hepatomegaly Cerebral atrophy Visual loss Hammertoe Spastic gait Broad-based gait Distal amyotrophy Dysmetria Nyctalopia Gait ataxia Progressive visual loss Migraine Intellectual disability, mild Onion bulb formation Motor delay Abnormal cerebellum morphology Retinopathy Poor speech Lower limb amyotrophy Cardiomyopathy Strabismus Diffuse white matter abnormalities Cholestasis Ankle clonus Impaired vibration sensation in the lower limbs Upper limb muscle weakness Upper limb spasticity Atrophy of the spinal cord Hyperintensity of cerebral white matter on MRI Limb dysmetria Failure to thrive Muscular hypotonia Hypergonadotropic hypogonadism Urinary urgency Impaired distal proprioception Upper limb dysmetria Hypertelorism Upper limb amyotrophy Growth delay Impaired vibratory sensation Iris hypopigmentation Abnormal nerve conduction velocity Segmental peripheral demyelination/remyelination Dysphagia Difficulty walking Fat malabsorption Spastic paraplegia Limb muscle weakness Agitation Status epilepticus Paraplegia Apathy Lower limb spasticity Limb ataxia Truncal ataxia Bilateral single transverse palmar creases Abnormality of the urinary system Hemiparesis Coma Type II diabetes mellitus Rhizomelia Calcific stippling Short 5th metacarpal Distal lower limb amyotrophy Anosmia Decreased liver function Abnormal electroretinogram Steatorrhea Areflexia of lower limbs Elevated levels of phytanic acid Ichthyosis Autistic behavior Skeletal dysplasia Autism Arrhythmia Congestive heart failure Hypocholesterolemia Esodeviation Polyneuritis Epicanthus Pigmentary retinopathy Nausea Wide nasal bridge Very long chain fatty acid accumulation Cirrhosis Malar flattening Osteoporosis Flat face Retinal dystrophy Single transverse palmar crease Frontal bossing Unsteady gait Confusion Abnormality of the liver Abnormal bleeding Irritability Hypogonadism Depressed nasal ridge Encephalopathy Kinetic tremor Resting tremor Excessive daytime somnolence Decreased motor nerve conduction velocity Generalized amyloid deposition Feeding difficulties Muscular hypotonia of the trunk Intellectual disability, moderate Developmental regression Abnormal pyramidal sign Leukodystrophy CNS hypomyelination Axonal degeneration Cardiac amyloidosis Axonal loss Titubation Motor polyneuropathy Loss of ability to walk Cerebral hypomyelination Cerebral white matter atrophy Truncal titubation Progressive cataract Bilateral facial palsy Lattice corneal dystrophy Arnold-Chiari type I malformation Palpitations Renal insufficiency Glaucoma Proteinuria Paralysis Corneal opacity Everted lower lip vermilion Hypotension Nephrotic syndrome Abnormal autonomic nervous system physiology Mild proteinuria Cutis laxa Corneal dystrophy Bulbar palsy Orthostatic hypotension Amyloidosis Abnormality of abdomen morphology Bulbar signs Facial paralysis Progressive sensorineural hearing impairment Hydrocele testis Congenital nystagmus Paresthesia Pseudobulbar signs Predominantly lower limb lymphedema Dilated third ventricle Kyphosis Elevated serum creatine phosphokinase Reduced visual acuity Pallor Distal muscle weakness Falls Narcolepsy Optic disc pallor Frequent falls Language impairment Skeletal muscle hypertrophy Mildly elevated creatine phosphokinase Macular atrophy Impaired pain sensation Optic neuropathy Cataplexy Excessive daytime sleepiness Retinal degeneration Abnormality of the nervous system Generalized myoclonic seizures Decreased nerve conduction velocity Subcapsular cataract Posterior subcapsular cataract Achilles tendon contracture Stuttering Dementia Diabetes mellitus Progressive cerebellar ataxia Abnormality of the cerebrospinal fluid Memory impairment Neuronal loss in central nervous system Psychosis Lymphedema Abnormality of mitochondrial metabolism Ptosis Head tremor Primitive reflex Biliary tract abnormality



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