Cataract, and Paresthesia

Diseases related with Cataract and Paresthesia

In the following list you will find some of the most common rare diseases related to Cataract and Paresthesia 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 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

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

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Other less relevant matches:

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 PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS


PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

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 CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Low match MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

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 LYMPHEDEMA-DISTICHIASIS SYNDROME


Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Related symptoms:

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Paresthesia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Myopathy 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 Paresthesia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Lower limb muscle weakness Pain Pes cavus Distal muscle weakness Gait ataxia Tremor Areflexia Gait disturbance Distal sensory impairment Seizures Visual impairment Elevated serum creatine phosphokinase Sensorineural hearing impairment Blindness Hearing impairment Arrhythmia Frequent falls Falls Edema Peripheral axonal neuropathy Mildly elevated creatine phosphokinase Reduced visual acuity Sensory impairment

Rare Symptoms - Less than 30% cases


Depressivity Dilated cardiomyopathy Encephalopathy Myoclonus Headache Mental deterioration Diarrhea Proximal muscle weakness Irritability Extrapyramidal muscular rigidity Anxiety Dysarthria Gliosis Neuronal loss in central nervous system Progressive hearing impairment Cerebral visual impairment Language impairment Polyneuropathy Pneumonia Scoliosis Increased variability in muscle fiber diameter Alopecia Hypocalcemia Centrally nucleated skeletal muscle fibers Ptosis Rod-cone dystrophy Weight loss Intestinal pseudo-obstruction Positive Romberg sign Lymphedema Sensory ataxia Decreased number of peripheral myelinated nerve fibers Axonal degeneration Segmental peripheral demyelination/remyelination Optic atrophy Cerebellar atrophy Rigidity Sensory neuropathy Onion bulb formation Distal amyotrophy Unsteady gait Areflexia of lower limbs Hyporeflexia Cardiomyopathy Limb muscle weakness Furrowed tongue Atrial flutter EMG: myopathic abnormalities Myofibrillar myopathy Atrioventricular block Restrictive cardiomyopathy Limb-girdle muscular dystrophy Akinesia Hamartomatous polyposis Tricuspid regurgitation Stomach cancer Progressive proximal muscle weakness Ventricular extrasystoles Neck muscle weakness Protein-losing enteropathy Intestinal polyposis Dystrophic fingernails Bundle branch block Right bundle branch block Heart block Difficulty climbing stairs Hypokinesia Bulbar palsy Spinal rigidity Rimmed vacuoles Respiratory insufficiency due to muscle weakness Muscle stiffness Ventricular tachycardia Decreased taste sensation Dyspnea Constipation Dilatation Congestive heart failure Myalgia Hypertrophic cardiomyopathy Facial palsy Skeletal myopathy Respiratory distress Muscular dystrophy Respiratory insufficiency Delayed speech and language development Flexion contracture Vertigo Gastrointestinal carcinoma Scapular winging Myocardial infarction Elbow flexion contracture Respiratory failure Progressive muscle weakness Palpitations Atrial fibrillation Peripheral edema Patchy alopecia Glossitis Ventricular hypertrophy Syncope Chest pain Sudden cardiac death Generalized muscle weakness Tachycardia Joint stiffness Status epilepticus Hyporeflexia of lower limbs Diabetes mellitus Webbed neck Growth hormone deficiency Bruising susceptibility Cleft upper lip Abnormality of the liver Proteinuria Photophobia Hypogonadism Telangiectasia Patent ductus arteriosus Obesity Abnormality of cardiovascular system morphology Cleft palate Atrophy/Degeneration involving the spinal cord Sensory ataxic neuropathy Subsarcolemmal accumulations of abnormally shaped mitochondria Recurrent urinary tract infections Gynecomastia Impaired distal proprioception Venous insufficiency Spinalarachnoid cyst Abnormality of the pulmonary vasculature Predominantly lower limb lymphedema Fibrosarcoma Knee pain Renal duplication Distichiasis Varicose veins Conjunctivitis Corneal erosion Tubulointerstitial nephritis Overweight Glomerulopathy Cellulitis Ectropion Recurrent skin infections Multiple mitochondrial DNA deletions Impaired distal vibration sensation Right ventricular cardiomyopathy EEG abnormality Migraine Brain atrophy Generalized myoclonic seizures Progressive cerebellar ataxia Lactic acidosis Abnormality of eye movement Ophthalmoplegia Acidosis Focal-onset seizure Dysphagia Cognitive impairment Restrictive heart failure Pica Late-onset proximal muscle weakness Third degree atrioventricular block Sick sinus syndrome Increased serum lactate Dystrophic toenail Cytochrome C oxidase-negative muscle fibers Gaze-evoked nystagmus Muscle fiber necrosis Gastroparesis Acute encephalopathy Progressive gait ataxia Progressive external ophthalmoplegia Hyperventilation Axonal loss Vestibular dysfunction Limb ataxia Impotence Sensory axonal neuropathy Ophthalmoparesis Abnormality of mitochondrial metabolism Bilateral ptosis Ragged-red muscle fibers External ophthalmoplegia Clubbing of fingers Anemia Hematochezia Aphasia Visual hallucinations Delusions Increased CSF protein Muscle fibrillation Visual field defect Blurred vision Personality changes Dysesthesia Apathy Truncal ataxia Hallucinations Choreoathetosis Hemiparesis Memory impairment Abnormal cerebellum morphology Supranuclear gaze palsy Normal pressure hydrocephalus Confusion Abnormality of dental enamel Tetany Hyperphosphatemia Hypoparathyroidism Basal ganglia calcification Hyperparathyroidism Brittle hair Cerebral calcification Loss of facial expression Delayed eruption of teeth Nephropathy Generalized tonic-clonic seizures Abnormality of the dentition Short stature Intellectual disability Hirano bodies Neurodegeneration Abnormal pyramidal sign Congenital hypoparathyroidism Abnormality of the nervous system Resting tremor Limited elbow extension Postural tremor Reduced tendon reflexes Abnormality of extrapyramidal motor function Muscle cramps Segmental peripheral demyelination Posterior subcapsular cataract Peripheral axonal degeneration Focal segmental glomerulosclerosis Steppage gait Glomerulosclerosis Peripheral demyelination Neutropenia Abnormality of the foot Central scotoma Abnormality of the thumb Paralysis Posterior cortical cataract Dementia Recurrent infections Behavioral abnormality Hydrocephalus Hyperreflexia Spasticity Anterior cortical cataract Dyslexia Anterior subcapsular cataract Deviation of the 2nd finger Limited wrist movement Tritanomaly Cerulean cataract Red-green dyschromatopsia Absent Achilles reflex Abnormality of calcium-phosphate metabolism Decreased circulating parathyroid hormone level Hypomagnesemia Fatigue Malabsorption Nail dystrophy Autoimmunity Abdominal pain Splenomegaly Vomiting Macrocephaly Tapered finger Hepatomegaly Neoplasm Abnormal nerve conduction velocity Kinetic tremor Excessive daytime somnolence Congenital nystagmus Optic neuropathy Abnormality of skin pigmentation Nail dysplasia Macular atrophy Aplasia/Hypoplasia of the eyebrow Abnormality of the vasculature Xerostomia Thromboembolism Generalized hyperpigmentation Sparse body hair Colon cancer Hypoplastic toenails Anorexia Clubbing Hypoalbuminemia Hypokalemia Cachexia Abnormal intestine morphology Abnormality of the fingernails Hyperpigmentation of the skin Impaired pain sensation Skeletal muscle hypertrophy Micrognathia Abnormality of the face Hypercholesterolemia Hyperlipidemia Acanthosis nigricans Pancreatitis Clonus Insulin resistance Hypertriglyceridemia Glucose intolerance Epidermal acanthosis Pigmentary retinopathy Hypotension Dysmetria Congenital cataract Retinopathy Babinski sign Lipodystrophy Brisk reflexes Paraparesis Visual loss Sensorimotor neuropathy Broad-based gait Bilateral sensorineural hearing impairment Optic disc pallor Progressive visual loss Pallor Kyphosis Orthostatic hypotension Motor delay Generalized hypotonia Global developmental delay Decreased adipose tissue around neck Lack of facial subcutaneous fat Loss of subcutaneous adipose tissue in limbs Absence of subcutaneous fat Lipedema



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