Cataract, and Anxiety

Diseases related with Cataract and Anxiety

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


Top matches:

Low match USHER SYNDROME TYPE 3


Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

USHER SYNDROME TYPE 3 Is also known as ush3|usher syndrome, type iii

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 3

Low match USHER SYNDROME TYPE 2


Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

USHER SYNDROME TYPE 2 Is also known as ush2

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 2

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 AMYOTROPHIC LATERAL SCLEROSIS


Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als|amyotrophic lateral sclerosis 1, autosomal dominant|fals|lou gehrig disease|charcot disease|amyotrophic lateral sclerosis 1, familial

Related symptoms:

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS

Low match USHER SYNDROME TYPE 1


Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

USHER SYNDROME TYPE 1 Is also known as ush1|retinitis pigmentosa and congenital deafness|us1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about USHER SYNDROME TYPE 1

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Is also known as vogt-spielmeyer disease|batten disease|spielmeyer-sjogren disease|jncl|neuronal ceroid lipofuscinosis, juvenile

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

Low match 1Q21.1 MICRODUPLICATION SYNDROME


1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Low match PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

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 Anxiety

Symptoms // Phenotype % cases
Depressivity Common - Between 50% and 80% cases
Visual loss Uncommon - Between 30% and 50% cases
Hallucinations Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Schizophrenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Rod-cone dystrophy Blindness Hearing impairment Hemianopia Fatigue Visual impairment Spasticity Scotoma Tremor Behavioral abnormality Dementia Iris hypopigmentation Myoclonus Nyctalopia Sensorineural hearing impairment Intellectual disability Progressive visual loss Vestibular dysfunction Abnormal electroretinogram Psychosis

Rare Symptoms - Less than 30% cases


Paralysis Proteinuria Memory impairment Neurodegeneration Failure to thrive Global developmental delay Mutism Gliosis Diabetes mellitus Confusion Bruising susceptibility Neuronal loss in central nervous system Muscle fibrillation Microcephaly Muscle weakness Pain Undetectable electroretinogram Glaucoma Parkinsonism Recurrent skin infections Cardiomyopathy Mental deterioration Tapetoretinal degeneration Generalized hypotonia Seizures Muscular hypotonia Abnormal cerebellum morphology Clumsiness Abnormality of the eye Cerebral cortical atrophy Abnormality of dental enamel Aplasia/Hypoplasia of the cerebellum Subcortical cerebral atrophy Nystagmus Abnormal cochlea morphology Vestibular hypofunction Peripheral visual field loss Visual field defect Progressive hearing impairment High hypermetropia Hypertension Encephalopathy Reduced visual acuity Hyperreflexia Neoplasm Headache Hydrocephalus Myopathy Elevated urinary dopamine Adrenal pheochromocytoma Renal artery stenosis Specific learning disability Pulsatile tinnitus Episodic paroxysmal anxiety Positive regitine blocking test Hypertension associated with pheochromocytoma Hypertensive retinopathy Paraganglioma of head and neck Panic attack Episodic hyperhidrosis Extraadrenal pheochromocytoma Arthrogryposis multiplex congenita Albuminuria Elevated urinary epinephrine Hip dysplasia Recurrent paroxysmal headache Carcinoma Cranial nerve compression Constrictive median neuropathy Weight loss Pallor Hyperhidrosis Congestive heart failure Retinopathy Congenital cataract Nausea Tachycardia Hematuria Chest pain Palpitations Cafe-au-lait spot Hemangioma Dysphonia Sinus tachycardia Hypercalcemia Glomerulosclerosis Cerebral hemorrhage Aniridia Episodic abdominal pain Vocal cord paralysis Raynaud phenomenon Relative macrocephaly Flushing Conductive hearing impairment Neoplasm of the endocrine system Pheochromocytoma Paraganglioma Tetralogy of Fallot Aseptic necrosis Paroxysmal vertigo Ectropion Arrhythmia Hypogonadism Photophobia Abnormality of the liver Paresthesia Cleft upper lip Growth hormone deficiency Webbed neck Recurrent urinary tract infections Telangiectasia Lymphedema Gynecomastia Conjunctivitis Cellulitis Obesity Glomerulopathy Overweight Tubulointerstitial nephritis Corneal erosion Varicose veins Venous insufficiency Distichiasis Renal duplication Knee pain Fibrosarcoma Predominantly lower limb lymphedema Abnormality of the pulmonary vasculature Spinalarachnoid cyst Patent ductus arteriosus Abnormality of cardiovascular system morphology Elevated urinary norepinephrine Hypokalemia Episodic hypertension Immunodeficiency Osteoporosis Abdominal pain Lethargy Infertility Sleep disturbance Recurrent fractures Round face Thin skin Nephrolithiasis Generalized hirsutism Venous thrombosis Lipodystrophy Edema Premature ovarian insufficiency Acne Menorrhagia Truncal obesity Telangiectasia of the skin Generalized hyperpigmentation Attention deficit hyperactivity disorder Bipolar affective disorder Adrenal hyperplasia Pituitary adenoma Onychomycosis Metrorrhagia Cleft palate Ptosis Hip dislocation Progressive encephalopathy Autistic behavior Peripheral demyelination Extrapyramidal muscular rigidity Hirano bodies Skeletal muscle atrophy Dysphagia Areflexia Respiratory failure Dyspnea Skeletal dysplasia Nausea and vomiting Muscle cramps Tetraplegia Generalized muscle weakness Fasciculations Normal pressure hydrocephalus Sleep apnea Slurred speech Emotional lability Amyotrophic lateral sclerosis Agitation Bulbar palsy Xerostomia Frontotemporal dementia Abnormal lower motor neuron morphology Degeneration of anterior horn cells Degeneration of the lateral corticospinal tracts Pseudobulbar paralysis Loss of facial expression Dysesthesia Motor neuron atrophy Irritability Hyporeflexia Astigmatism Myopia Carious teeth Microdontia Abnormality of dental color Mild hearing impairment Abnormality of the inner ear Peripheral neuropathy Recurrent infections Gait ataxia Rigidity Abnormal pyramidal sign Supranuclear gaze palsy Unsteady gait Hemiparesis Choreoathetosis Cerebral visual impairment Truncal ataxia Language impairment Apathy Personality changes Aphasia Blurred vision Increased CSF protein Delusions Visual hallucinations Functional respiratory abnormality Laryngospasm Intellectual disability, moderate Scoliosis Vacuolated lymphocytes Autophagic vacuoles Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Concentric hypertrophic cardiomyopathy Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Presenile cataracts Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Cerebral degeneration Increased extraneuronal autofluorescent lipopigment Progressive inability to walk Short stature Hypertelorism Psychomotor deterioration Strabismus Cryptorchidism Macrocephaly Frontal bossing Talipes equinovarus Hypoplasia of the corpus callosum Atrial septal defect Hypertonia Intellectual disability, mild Hypospadias Hyperactivity Autism Gastroesophageal reflux Oromandibular dystonia Vegetative state Fatigable weakness of respiratory muscles Cerebellar atrophy Fatigable weakness of bulbar muscles Fatigable weakness of swallowing muscles Motor delay Bronchiectasis Sinusitis Decreased fertility Severe hearing impairment Chronic sinusitis Absent vestibular function Cognitive impairment Dysarthria Optic atrophy Dystonia Pendular nystagmus Cerebral atrophy Elevated serum creatine phosphokinase Pneumonia Hypertrophic cardiomyopathy Retinal degeneration Nevus Pigmentary retinopathy Generalized-onset seizure Aspiration Macular degeneration Mildly elevated creatine phosphokinase Retinal atrophy Aspiration pneumonia Lipedema



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