Cataract, and Bipolar affective disorder

Diseases related with Cataract and Bipolar affective disorder

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


Top matches:

Medium 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

Medium 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

Medium match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

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Other less relevant matches:

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


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. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

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 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME


X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Low match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Low match DARIER DISEASE


Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.

DARIER DISEASE Is also known as keratosis follicularis|darier-white disease|dd|darier disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pain
  • Intellectual disability, mild
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DARIER DISEASE

Top 5 symptoms//phenotypes associated to Cataract and Bipolar affective disorder

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Depressivity Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Psychosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Bipolar affective disorder. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Anxiety Hypothyroidism Hearing impairment Microcephaly Immunodeficiency Short neck Short stature Ataxia Ptosis Cognitive impairment Scoliosis Inguinal hernia Gait disturbance Schizophrenia Micrognathia Generalized hypotonia Abnormality of the dentition Behavioral abnormality Hypospadias Patent ductus arteriosus Intellectual disability, mild Abnormal facial shape Acne Myopathy Fatigue Visual impairment Osteoporosis Diabetes mellitus Premature ovarian insufficiency Nasal speech Gastroesophageal reflux Parkinsonism Constipation Tremor Myalgia Bruising susceptibility Hypogonadism Cardiomyopathy Hernia Microphthalmia Amenorrhea Spina bifida Attention deficit hyperactivity disorder Gait ataxia Obesity Skeletal muscle atrophy Downslanted palpebral fissures High palate Epicanthus Low-set ears Abnormality of cardiovascular system morphology Cleft palate Anal atresia Macrocephaly Delayed speech and language development Lethargy Atrial septal defect Hydrocephalus Sensorineural hearing impairment Muscle weakness Ventricular septal defect Muscular hypotonia Hypertension Thrombocytopenia

Rare Symptoms - Less than 30% cases


Arteria lusoria Intellectual disability, moderate Short philtrum Aggressive behavior Thin upper lip vermilion Growth delay Prominent nasal bridge Hyperactivity Macrotia Autism Frontal bossing Posteriorly rotated ears Clinodactyly of the 5th finger Headache Visual loss Clinodactyly Menorrhagia Pulmonic stenosis Short nose Abdominal pain Small for gestational age Platybasia Facial asymmetry Intellectual disability, severe Holoprosencephaly Purpura Multicystic kidney dysplasia Hypocalcemia Tetralogy of Fallot Specific learning disability Vesicoureteral reflux Recurrent infections Hyperthyroidism Absent speech Abnormal heart morphology Retrognathia Umbilical hernia Conductive hearing impairment Arthritis Bulbous nose Cholelithiasis Posterior embryotoxon Joint hyperflexibility Aortic valve stenosis Spasticity Abnormality of skin pigmentation Long face Flexion contracture Single transverse palmar crease Giant platelets Impaired T cell function Horseshoe kidney Primary amenorrhea Cerebellar atrophy Seborrheic dermatitis Pes cavus Truncus arteriosus Congenital cataract Meningocele Hypoparathyroidism Abnormality of extrapyramidal motor function Infertility Pectus excavatum Autoimmunity Intestinal malrotation Peripheral neuropathy Thin skin Nephrolithiasis Left ventricular hypertrophy Pain Progressive muscle weakness Exercise intolerance Dysarthria External ophthalmoplegia Generalized hirsutism Ragged-red muscle fibers EMG: myopathic abnormalities Venous thrombosis Limb muscle weakness Bradykinesia Recurrent fractures Apathy Sensory neuropathy Hyporeflexia Dementia Ophthalmoplegia Arrhythmia Cerebral atrophy Hand polydactyly Muscle cramps Memory impairment Respiratory insufficiency Proximal muscle weakness Dysphagia Rigidity Round face Migraine Increased serum lactate Recurrent skin infections Dysphonia Ophthalmoparesis Optic atrophy Osteopenia Mental deterioration Long philtrum Aseptic necrosis Sleep disturbance Talipes equinovarus Intrauterine growth retardation Feeding difficulties in infancy Wide nasal bridge Cryptorchidism Strabismus Hypertelorism Generalized hyperpigmentation Telangiectasia of the skin Truncal obesity Kyphosis Edema Adrenal hyperplasia Subsarcolemmal accumulations of abnormally shaped mitochondria Hypokalemia Lipodystrophy Sensory axonal neuropathy Telecanthus Abnormal thrombocyte morphology Resting tremor Metrorrhagia Progressive external ophthalmoplegia Mitochondrial myopathy Onychomycosis Pituitary adenoma Cytochrome C oxidase-negative muscle fibers Multiple mitochondrial DNA deletions Elevated serum creatine phosphokinase Progressive spastic paraparesis Feeding difficulties Turricephaly Mania Juvenile cataract Excessive salivation Hypoglycemia Depressed nasal bridge Brachydactyly Ventriculomegaly Abnormal lung lobation Anteverted nares Congestive heart failure Syndactyly Agenesis of corpus callosum Recurrent respiratory infections Prominent forehead High forehead Pes planus Shuffling gait Hydronephrosis Slender build Multiple suture craniosynostosis Bruxism Hypoplasia of the thymus Pneumonia Atelectasis Babinski sign Encephalopathy Dystonia Chronic obstructive pulmonary disease Hyperreflexia Abnormality of the uterus Corneal neovascularization Tetany Occipital myelomeningocele Muscular hypotonia of the trunk Abnormality of the tonsils Abnormal aortic valve morphology Abnormality of the pharynx Small earlobe Arrhinencephaly Abnormal pulmonary valve morphology Anorectal anomaly Retinal arteriolar tortuosity Hypertensive crisis Abnormal aortic arch morphology EEG abnormality Abnormal pyramidal sign Macroorchidism Choreoathetosis Facial hypotonia Poor coordination Restlessness Progressive spasticity Drooling Spastic paraparesis Paraparesis Spastic gait Postnatal microcephaly Clumsiness Patellar dislocation Spastic paraplegia Multiple renal cysts Spastic tetraplegia Apraxia Tricuspid atresia Small hand Paraplegia Abnormality of the skull Abnormal eyelid morphology Varicose veins Genu valgum Tetraplegia Double outlet right ventricle Low-set, posteriorly rotated ears Broad columella Annular pancreas Abnormality of the anus Toe clinodactyly Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Labial hypoplasia Bilateral camptodactyly Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Missing ribs Internal hemorrhage Congenital thrombocytopenia Abnormal eyelash morphology Skin vesicle Anal mucosal leukoplakia Enlargement of parotid gland Plantar pits Acrokeratosis Palmar pits Fractures of the long bones Bone cyst Ridged nail Fragile nails Aniridia Fragile skin Macule Megakaryocyte dysplasia Hypermelanotic macule Abnormality of the nail Abnormality of the hair Thickened skin Abnormal blistering of the skin Nevus Palmoplantar keratoderma Pruritus Papule Hyperkeratosis Hyperhidrosis Abnormality of the curvature of the vertebral column Bowel incontinence Wheezing Camptodactyly Talipes Microdontia Otitis media Growth hormone deficiency Webbed neck Decreased antibody level in blood Premature birth Postural instability Microcornea Iris coloboma Tachycardia Smooth philtrum Narrow chest Eczema Toe syndactyly Dolichocephaly Hip dislocation Neurological speech impairment Leukemia Finger syndactyly Skin rash Abnormal cardiac septum morphology Coloboma Craniosynostosis Postnatal growth retardation Dehydration Coarctation of aorta Transposition of the great arteries Trigonocephaly Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Chorioretinal coloboma Ectropion Pyloric stenosis Pancytopenia Infantile muscular hypotonia Tachypnea Abnormal palate morphology Azoospermia Bone marrow hypocellularity Leukodystrophy Short toe Sinusitis Short thumb Amblyopia Pachygyria Abnormal form of the vertebral bodies Foot polydactyly Open mouth Dysphasia Elevated hepatic transaminase Pigmentary retinopathy Coma Lactic acidosis Peripheral axonal neuropathy Abnormality of eye movement Dilated cardiomyopathy Retinopathy Abnormality of the liver Facial palsy Acidosis Palpitations Hypertonia Six lumbar vertebrae Subvalvular aortic stenosis Broad face Shallow orbits Sandal gap Narrow face Aspiration Anorexia Atrial fibrillation Frequent falls Dental crowding Exertional dyspnea Absent Achilles reflex Reduced ejection fraction Shoulder girdle muscle weakness Hypomimic face Facial diplegia Ketosis Gonadal dysgenesis Secondary amenorrhea Rhabdomyolysis Hypokinesia Cerebral visual impairment Difficulty climbing stairs Glucose intolerance Increased variability in muscle fiber diameter Abnormality of mitochondrial metabolism Easy fatigability Goiter Ventricular arrhythmia Hypergonadotropic hypogonadism Sensorimotor neuropathy Stereotypy Pulmonary arterial hypertension Abnormality of the mitochondrion Diplopia Limb-girdle muscle weakness Insomnia Abnormality of the thyroid gland Coronary artery atherosclerosis Ventricular fibrillation Bilateral ptosis Mutism Progressive hearing impairment Bradycardia Status epilepticus Neoplasm Ventricular hypertrophy Brain atrophy Gliosis Generalized muscle weakness Paresthesia Lower limb muscle weakness Severe global developmental delay Cerebral cortical atrophy Areflexia Sensory ataxia Hirsutism Prominent nose Dorsocervical fat pad Tapered finger Everted lower lip vermilion Oral cleft Pectus carinatum Respiratory tract infection Cleft lip Joint laxity Primary hypercortisolism Macronodular adrenal hyperplasia Moon facies Hypotension Mood changes Decreased circulating ACTH level Abdominal obesity Neoplasm of the endocrine system Increased circulating cortisol level Subarachnoid hemorrhage Striae distensae Orthostatic hypotension Agitation Increased body weight Skeletal myopathy Testicular atrophy Chronic otitis media Duodenal stenosis Perineal fistula Vascular ring Central nervous system degeneration Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Retinal vascular tortuosity Paranoia Right aortic arch Right aortic arch with mirror image branching Mood swings Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Congenital conductive hearing impairment Sacral meningocele Pierre-Robin sequence Gastrointestinal hemorrhage Overfolded helix Abnormality of the thorax Polycystic kidney dysplasia Laryngomalacia Hypopigmented skin patches Abnormality of dental enamel Aganglionic megacolon Choanal atresia Renal hypoplasia Asthma Unilateral lung agenesis Arachnodactyly Carious teeth Polyhydramnios Narrow mouth Glaucoma Upslanted palpebral fissure Malar flattening Splenomegaly Unilateral primary pulmonary dysgenesis Myelomeningocele Delusions Parkinsonism with favorable response to dopaminergic medication Anemia Underdeveloped nasal alae Chorea Bifid uvula Hemolytic anemia Dysmetria Blepharophimosis Abnormality of the pinna Hypoplasia of the corpus callosum Fever Focal white matter lesions Peripheral demyelination Quadriceps muscle weakness Progressive ophthalmoplegia Acute rhabdomyolysis Impaired distal proprioception Nocturia Impaired distal vibration sensation Muscle fiber necrosis Gastroparesis Cogwheel rigidity Renal agenesis Low posterior hairline Hearing abnormality Inflammation of the large intestine Vitiligo Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Renal dysplasia Unilateral renal agenesis Obsessive-compulsive behavior Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Abnormality of the hand Arnold-Chiari malformation Bicuspid aortic valve Narrow palpebral fissure Hallucinations Subungual hyperkeratotic fragments



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