Cataract, and Schizophrenia

Diseases related with Cataract and Schizophrenia

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


Top matches:

Medium match MONILETHRIX


Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.

MONILETHRIX Is also known as moniliform hair syndrome

Related symptoms:

  • Intellectual disability
  • Cataract
  • Cognitive impairment
  • Abnormality of the dentition
  • Hypotrichosis


SOURCES: ORPHANET MENDELIAN

More info about MONILETHRIX

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium 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

Medium match 1Q21.1 MICRODELETION SYNDROME


1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY


Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Schizophrenia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Anxiety 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 Schizophrenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Depressivity

Uncommon Symptoms - Between 30% and 50% cases


Short stature Generalized hypotonia Scoliosis Behavioral abnormality Hydrocephalus Sensorineural hearing impairment Hallucinations Muscular hypotonia Microcephaly Inguinal hernia Aggressive behavior Abnormal facial shape Macrocephaly Ataxia High palate Hypoplasia of the corpus callosum Psychosis Aplasia/Hypoplasia of the cerebellum Cerebral cortical atrophy Autism Failure to thrive Hyperactivity Intellectual disability, mild Strabismus Cryptorchidism Pectus excavatum Frontal bossing Hypertonia Intellectual disability, severe Abnormality of the skeletal system Scotoma Hemianopia Cognitive impairment Iris hypopigmentation Abnormal electroretinogram Rod-cone dystrophy High hypermetropia Vestibular dysfunction Visual loss Nyctalopia

Rare Symptoms - Less than 30% cases


Basal ganglia calcification Microphthalmia Thick lower lip vermilion Abnormal form of the vertebral bodies Epicanthus Self-injurious behavior Hypothyroidism Generalized osteoporosis Narrow iliac wings Kyphoscoliosis Pectus carinatum Obsessive-compulsive behavior Cutis marmorata Open mouth Tetralogy of Fallot Mental deterioration Specific learning disability Hypoplasia of the maxilla Patent ductus arteriosus Short distal phalanx of finger Truncus arteriosus Kyphosis Macrotia Anteverted nares Attention deficit hyperactivity disorder Gait disturbance Downslanted palpebral fissures Peripheral neuropathy Anemia Interrupted aortic arch Conductive hearing impairment Congenital cataract Broad hallux Vesicoureteral reflux Bulbous nose Joint hypermobility Joint hyperflexibility Deeply set eye Agenesis of corpus callosum Osteoporosis Protruding ear Hip dysplasia Skeletal muscle atrophy Autistic behavior Hypertelorism Intellectual disability, moderate Abnormality of the eye Progressive visual loss Progressive hearing impairment Peripheral visual field loss Vestibular hypofunction Abnormal cochlea morphology Myopia Blindness Subcortical cerebral atrophy Brittle hair Abnormality of dental enamel Neoplasm Hypospadias Atrial septal defect Talipes equinovarus Glaucoma Abnormality of the endocrine system Stooped posture Echolalia Myelomeningocele Pierre-Robin sequence Pseudoepiphyses of the metacarpals Delusions Autoimmunity Pulmonary artery atresia Meningocele Hearing abnormality Hypoparathyroidism Retinoschisis Pulmonic stenosis Vitiligo Blepharophimosis Juvenile rheumatoid arthritis Posterior embryotoxon Cataplexy Arteria lusoria Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Giant platelets Abnormality of the nasal alae Retinal vascular tortuosity Paranoia Seborrheic dermatitis Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Abnormality of the pinna Platybasia Perimembranous ventricular septal defect Graves disease Aplasia of the uterus Bipolar affective disorder Bifid uvula Anal stenosis Spina bifida Bifid sternum Bicuspid aortic valve Holoprosencephaly Purpura Narrow palpebral fissure Multicystic kidney dysplasia Hypocalcemia Renal dysplasia Arnold-Chiari malformation Thick nasal septum Primary amenorrhea Low posterior hairline Peripheral demyelination Amenorrhea Renal agenesis Underdeveloped nasal alae Chorea Uterine prolapse Abnormality of the hand Hemolytic anemia Myopathic facies Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Lumbar kyphosis Central nervous system degeneration Anal atresia Abnormality of the ear Dysmetria Inflammation of the large intestine Nasal speech Hypoplasia of the brainstem Acne Unilateral renal agenesis Apathy Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Autoimmune thrombocytopenia Muscle weakness Vascular ring Delayed closure of the anterior fontanelle Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Cutis laxa Craniofacial hyperostosis Narrow palate Coxa valga Abnormality of the hair Wide anterior fontanel Restrictive cardiomyopathy Abnormality of retinal pigmentation Abnormal aortic valve morphology Decreased body weight Myelopathy Mitral regurgitation Cerebellar vermis hypoplasia Dental malocclusion Advanced eruption of teeth Abnormal mitral valve morphology Hypoplastic fingernail Hyperextensibility of the finger joints Large hands Broad palm Abnormality of digit Thickened calvaria Progressive spasticity Loss of consciousness Atonic seizures Emphysema Abnormality of neuronal migration Anteriorly placed anus Sleep apnea Spinal canal stenosis Abnormality of dental morphology Severe sensorineural hearing impairment Soft skin Prominent supraorbital ridges Acrocyanosis Redundant skin Coarse hair Short metacarpal Umbilical hernia Perineal fistula Brachydactyly Mandibular prognathia Broad finger Delayed skeletal maturation Congestive heart failure Cardiomyopathy Ventriculomegaly Optic atrophy Abnormal tricuspid valve morphology Pes planus Depressed nasal bridge Hyperconvex fingernails Growth delay Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Coarse facial features Telecanthus Rectal prolapse Everted lower lip vermilion Premature loss of primary teeth Tetraplegia Hypodontia Delayed eruption of teeth Abnormal diaphysis morphology Single transverse palmar crease Tapered finger Highly arched eyebrow Thick vermilion border Feeding difficulties in infancy Wide nose Thick eyebrow Dilated cardiomyopathy Severe global developmental delay Thick nasal alae Neurological speech impairment Wide mouth Hyperlordosis Arthritis Motor tics Retrognathia Broad hallux phalanx Midface retrusion Malar flattening Myopathy Flexion contracture Ptosis Micrognathia Ankyloglossia Foot polydactyly Babinski sign Transposition of the great arteries Hand polydactyly Broad thumb Coarctation of aorta Sleep disturbance Short foot Iris coloboma Toe syndactyly Areflexia Pes cavus Joint laxity Synophrys Cerebral calcification Otitis media Nevus Neurodegeneration Downturned corners of mouth Distal amyotrophy Genu valgum Narrow chest Broad forehead Hypogonadism Prominent nasal bridge Abnormal pyramidal sign Developmental regression Osteopenia Narrow mouth Gait ataxia Brachycephaly Diabetes mellitus Abnormal cardiac septum morphology Hydronephrosis Sparse scalp hair Hyporeflexia Abnormality of dental color Microdontia Carious teeth Nystagmus Visual field defect Astigmatism Reduced visual acuity Patchy alopecia Abnormality of the inner ear Slow-growing hair Follicular hyperkeratosis Abnormal eyebrow morphology Abnormal eyelash morphology Abnormality of the nail Fine hair Hypotrichosis Abnormality of the dentition Mild hearing impairment Motor delay Clinodactyly of the 5th finger Spasticity Long philtrum Intrauterine growth retardation Wide nasal bridge Constrictive median neuropathy Relative macrocephaly Arthrogryposis multiplex congenita Hip dislocation Gastroesophageal reflux Absent vestibular function Clumsiness Tapetoretinal degeneration Undetectable electroretinogram Chronic sinusitis Severe hearing impairment Decreased fertility Mutism Sinusitis Bronchiectasis Bradykinesia Thickened skin Posteriorly rotated ears Aspiration Transient ischemic attack Pulmonary embolism Thromboembolism Disproportionate tall stature Ectopia lentis Atherosclerosis Pancreatitis Tall stature Precocious atherosclerosis Dental crowding Myocardial infarction Mitral valve prolapse Limitation of joint mobility Hypopigmentation of the skin Retinal detachment Hepatic steatosis Arachnodactyly Peripheral arterial stenosis Cerebral edema Dilatation Immunodeficiency Dementia Abnormal heart morphology Obesity Hernia Thrombocytopenia Absent speech Abnormality of cardiovascular system morphology Recurrent infections Cerebellar atrophy Homocystinuria Short neck Ventricular septal defect Fever Delayed speech and language development Cleft palate Hypermethioninemia Personality disorder Biconcave vertebral bodies Stroke Edema Gynecomastia Bilateral cryptorchidism Hip contracture Congenital hypothyroidism Sparse body hair Ankle clonus Mixed hearing impairment Truncal obesity Anonychia Metatarsus adductus Melanocytic nevus Restlessness Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Knee flexion contracture Paraparesis Hypergonadotropic hypogonadism Clonus Striae distensae Insulin-resistant diabetes mellitus Superiorly displaced ears Abnormal glucose tolerance Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Basilar impression Absent axillary hair Posterior polar cataract Ectopic calcification Irregular vertebral endplates Recurrent ear infections Bone cyst Tics Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Poor coordination Drumstick terminal phalanges



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