Intellectual disability, severe, and Bipolar affective disorder

Diseases related with Intellectual disability, severe and Bipolar affective disorder

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

Top matches:

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION 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

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

Other less relevant matches:

Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (OMIM ). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.Schizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective DisorderSCZD4 (OMIM ) is associated with variation in the PRODH gene (OMIM ); SCZD9 (OMIM ) with variation in the DISC1 gene (OMIM ); SCZD15 (OMIM ) with variation in the SHANK3 gene (OMIM ); SCZD16 (OMIM ) with a chromosome duplication involving the VIPR2 gene (OMIM ); SCZD17 (see {614332}) with variation in the NRXN1 gene (OMIM ); SCZD18 (OMIM ) with variation in the SLC1A1 gene (OMIM ); and SCZD19 (OMIM ) with variation in the RBM12 gene (OMIM ).For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.

SCHIZOPHRENIA; SCZD Is also known as schizophrenia with or without an affective disorder

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Behavioral abnormality
  • Depressivity
  • Dementia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA; SCZD

High 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

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION 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

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

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Bipolar affective disorder

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Anxiety Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Bipolar affective disorder. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Psychosis

Common Symptoms - More than 50% cases

Depressivity

Uncommon Symptoms - Between 30% and 50% cases

Schizophrenia Ataxia Gait disturbance Gait ataxia Hypothyroidism Autism Parkinsonism Abnormality of extrapyramidal motor function Rigidity Bradykinesia Dysarthria Dysphagia Dementia Tremor Delayed speech and language development Generalized hypotonia Hearing impairment Cataract High palate Micrognathia Aggressive behavior Mental deterioration Abnormality of the dentition Hyperreflexia EEG abnormality Dysmetria Pain Chorea Mood swings Hypertension Gastroesophageal reflux Failure to thrive Intellectual disability, mild Dysdiadochokinesis Abnormal facial shape Behavioral abnormality Hyperactivity Small for gestational age Cerebellar atrophy Cleft palate Scoliosis

Rare Symptoms - Less than 30% cases

Echolalia Proximal muscle weakness Myalgia Delusions Short stature Postural instability Urinary incontinence Abnormal cerebellum morphology Mania Basal ganglia calcification Memory impairment Frontal bossing Downslanted palpebral fissures Premature ovarian insufficiency Obsessive-compulsive behavior Hyporeflexia Pes cavus Muscular hypotonia Apathy Encephalopathy Dystonia Abnormal pyramidal sign Choreoathetosis Macrocephaly Clumsiness Dyskinesia Peripheral neuropathy Paraparesis Stereotypy Dental crowding Spastic paraparesis Attention deficit hyperactivity disorder Muscle weakness Macrotia Abnormality of skin pigmentation Abnormality of movement Epicanthus Patent ductus arteriosus Short neck Posteriorly rotated ears Poor fine motor coordination Amenorrhea Oral-pharyngeal dysphagia Hypoplasia of the corpus callosum Primary amenorrhea Bifid uvula Inguinal hernia Abnormal heart morphology Impaired distal vibration sensation Hallucinations Fatigue Congenital cataract Mask-like facies Hernia Thrombocytopenia Resting tremor Nasal speech Absent speech Abnormality of the liver Hypospadias Pulmonic stenosis Abnormality of cardiovascular system morphology Poor eye contact Frontotemporal dementia Athetosis Emotional lability Abnormality of neuronal migration High hypermetropia Dysphasia Slurred speech Progressive encephalopathy Hypocholesterolemia Abnormality of chromosome segregation Receptive language delay Microphthalmia Short nose Cerebral calcification Progressive neurologic deterioration Broad-based gait Low-set ears Central sleep apnea Muscle stiffness Expressive language delay Prominent nasal tip Abnormality of the pharynx Lewy bodies Abnormal renal morphology Speech apraxia Open bite Patent foramen ovale Abnormality of dental morphology Neonatal hypotonia Limb dysmetria Abnormality of the kidney Focal motor seizures Apnea Low-set, posteriorly rotated ears Clinodactyly Micrographia Progressive choreoathetosis Pill-rolling tremor Feeding difficulties in infancy Calcification of the small brain vessels Mandibular prognathia Dense calcifications in the cerebellar dentate nucleus Hypertelorism Strabismus Myopia Wide nasal bridge Feeding difficulties Subcutaneous hemorrhage Alcoholism Language impairment Triangular face Trigonocephaly Failure to thrive in infancy Infantile muscular hypotonia Sleep apnea Hypercholesterolemia Abnormality of the cardiovascular system Dental malocclusion Delayed myelination Hypoplasia of the maxilla Pseudohypoparathyroidism Smooth philtrum Hypermetropia Broad forehead Abnormal lower motor neuron morphology Calcinosis Wide mouth Autistic behavior Focal dystonia Orofacial dyskinesia Pectus excavatum Multiple mitochondrial DNA deletions Clinodactyly of the 5th finger External ophthalmoplegia Glucose intolerance Sensory axonal neuropathy Increased variability in muscle fiber diameter Ophthalmoparesis Abnormality of mitochondrial metabolism Dysphonia Easy fatigability Goiter Ventricular arrhythmia EMG: myopathic abnormalities Ragged-red muscle fibers Exercise intolerance Hypokinesia Hypergonadotropic hypogonadism Sensorimotor neuropathy Cerebral visual impairment Progressive muscle weakness Left ventricular hypertrophy Frequent falls Palpitations Atrial fibrillation Pigmentary retinopathy Increased serum lactate Migraine Difficulty climbing stairs Exertional dyspnea Coma Skeletal myopathy Impaired distal proprioception Nocturia Cytochrome C oxidase-negative muscle fibers Acute rhabdomyolysis Muscle fiber necrosis Gastroparesis Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Subsarcolemmal accumulations of abnormally shaped mitochondria Testicular atrophy Abnormality of the mitochondrion Absent Achilles reflex Rhabdomyolysis Reduced ejection fraction Shoulder girdle muscle weakness Hypomimic face Facial diplegia Ketosis Mitochondrial myopathy Progressive external ophthalmoplegia Gonadal dysgenesis Progressive ophthalmoplegia Hyperthyroidism Secondary amenorrhea Muscle cramps Sensory neuropathy Thin upper lip vermilion Tapered finger Sandal gap Horseshoe kidney Narrow face Gliosis Aspiration Aortic valve stenosis Anorexia Quadriceps muscle weakness Pulmonary arterial hypertension Prominent nose Single transverse palmar crease Everted lower lip vermilion Broad face Long face Oral cleft Joint hyperflexibility Facial asymmetry Prominent nasal bridge Pectus carinatum Short philtrum Respiratory tract infection Intellectual disability, moderate Cleft lip Joint laxity Shallow orbits Subvalvular aortic stenosis Lactic acidosis Hypogonadism Peripheral axonal neuropathy Abnormality of eye movement Limb muscle weakness Ophthalmoplegia Lethargy Dilated cardiomyopathy Retinopathy Facial palsy Elevated hepatic transaminase Acidosis Diabetes mellitus Osteoporosis Six lumbar vertebrae Constipation Elevated serum creatine phosphokinase Arrhythmia Hypertonia Myopathy Edema Respiratory insufficiency Skeletal muscle atrophy Visual impairment Ptosis Sensorineural hearing impairment Neuronal loss in central nervous system Distal sensory impairment Vertigo Pulmonary artery atresia Impaired T cell function Right aortic arch Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Abnormality of the endocrine system Paranoia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Meningocele Hearing abnormality Hypoparathyroidism Vitiligo Posterior embryotoxon Anal stenosis Duodenal stenosis Retinal vascular tortuosity Submucous cleft hard palate Unilateral lung agenesis Spastic paraplegia Muscular hypotonia of the trunk Pneumonia Babinski sign Kyphosis Flexion contracture Spasticity Growth delay Unilateral primary pulmonary dysgenesis Sacral meningocele Giant platelets Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Autoimmune thrombocytopenia Axonal loss Paraplegia Conductive hearing impairment Underdeveloped nasal alae Vesicoureteral reflux Hemolytic anemia Bulbous nose Anal atresia Autoimmunity Blepharophimosis Abnormality of the pinna Arthritis Umbilical hernia Specific learning disability Retrognathia Obesity Recurrent infections Immunodeficiency Atrial septal defect Hydrocephalus Ventricular septal defect Fever Anemia Renal agenesis Peripheral demyelination Autoimmune hemolytic anemia Abnormality of the hand Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Unilateral renal agenesis Psoriasiform dermatitis Rheumatoid arthritis Cholelithiasis Arnold-Chiari malformation Tetralogy of Fallot Bicuspid aortic valve Holoprosencephaly Purpura Narrow palpebral fissure Multicystic kidney dysplasia Hypocalcemia Spina bifida Renal dysplasia Open mouth Low posterior hairline Genu valgum Small hand Neurological speech impairment Limb ataxia Atrophy/Degeneration affecting the brainstem Abnormality of the thyroid gland Bowel incontinence Global brain atrophy Agitation Impotence Postural tremor Abnormal autonomic nervous system physiology Horizontal nystagmus Intention tremor Action tremor Hypotension Brain atrophy Progressive cerebellar ataxia Abnormality of the cerebral white matter Stroke Irritability Cerebral cortical atrophy Nystagmus Subungual hyperkeratotic fragments Urinary bladder sphincter dysfunction Diffuse cerebral atrophy Enlargement of parotid gland Inertia Corneal opacity Paralysis Headache Ventriculomegaly Intrauterine growth retardation Hepatomegaly Motor delay Impaired tandem gait Subcortical dementia Retrocollis Olivopontocerebellar atrophy Obsessive-compulsive trait Diffuse cerebellar atrophy Abnormal nerve conduction velocity Abnormality of brainstem morphology Pollakisuria Saccadic smooth pursuit Dysesthesia Kinetic tremor Disinhibition Astrocytosis Anal mucosal leukoplakia Plantar pits Tetraplegia Bruxism Neurofibrillary tangles Alzheimer disease Akinesia Increased body weight Juvenile cataract Progressive spastic paraparesis Excessive salivation Slender build Shuffling gait Macroorchidism Borderline personality disorder Facial hypotonia Poor coordination Restlessness Progressive spasticity Drooling Spastic gait Postnatal microcephaly Spastic tetraplegia Apraxia Preeclampsia Auditory hallucinations Acrokeratosis Hypermelanotic macule Palmar pits Fractures of the long bones Bone cyst Ridged nail Fragile nails Aniridia Fragile skin Skin vesicle Macule Abnormality of the nail Personality disorder Abnormality of the hair Thickened skin Abnormal blistering of the skin Nevus Palmoplantar keratoderma Pruritus Papule Hyperkeratosis Hyperhidrosis Social and occupational deterioration Focal white matter lesions


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