Global developmental delay, and Bipolar affective disorder

Diseases related with Global developmental delay and Bipolar affective disorder

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

Top matches:

Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

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

Other less relevant 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

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

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

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

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

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Top 5 symptoms//phenotypes associated to Global developmental delay and Bipolar affective disorder

Symptoms // Phenotype % cases
Cognitive impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Depressivity Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Short stature Hypothyroidism Hearing impairment Schizophrenia Microcephaly Dysphagia Dysarthria Dysmetria Gait disturbance High palate Failure to thrive Chorea Cleft palate Anxiety Thrombocytopenia Delayed speech and language development Tremor Abnormal facial shape Parkinsonism Mental deterioration Scoliosis Cholelithiasis Hypertension Ptosis Pain Attention deficit hyperactivity disorder Autism Patent ductus arteriosus Inguinal hernia Gait ataxia Rigidity Aggressive behavior Posteriorly rotated ears Amenorrhea Generalized hypotonia Memory impairment Bradykinesia Cataract Dysdiadochokinesis Hyperreflexia Apathy Fatigue Hyperactivity Abnormal heart morphology Abnormality of cardiovascular system morphology Arthritis Hypoplasia of the corpus callosum Nasal speech Behavioral abnormality Psychosis Strabismus Bifid uvula Micrognathia Anemia

Rare Symptoms - Less than 30% cases

Myelomeningocele Corneal opacity Arnold-Chiari malformation Bicuspid aortic valve Rheumatoid arthritis Purpura Truncus arteriosus Psoriasiform dermatitis Nystagmus Hypocalcemia Unilateral renal agenesis Oral-pharyngeal dysphagia Mood swings Alcoholism Low-set ears Acne Inflammation of the large intestine Gliosis Autoimmune hemolytic anemia Basal ganglia calcification Progressive neurologic deterioration Meningocele Hypoparathyroidism Autoimmune thrombocytopenia Vitiligo Posterior embryotoxon Neurological speech impairment Umbilical hernia Spina bifida Epicanthus Fever Stereotypy Dental crowding Abnormality of the cardiovascular system Hypertelorism Muscular hypotonia Myopia Short neck Downslanted palpebral fissures Frontal bossing Abnormality of the dentition Gastroesophageal reflux EEG abnormality Small for gestational age Abnormality of the kidney Ventricular septal defect Hydrocephalus Echolalia Hemolytic anemia Renal dysplasia Arrhythmia Primary amenorrhea Low posterior hairline Tetralogy of Fallot Specific learning disability Renal agenesis Bulbous nose Atrial septal defect Autoimmunity Blepharophimosis Abnormality of the pinna Retrognathia Obesity Recurrent infections Immunodeficiency Microphthalmia Hernia Areflexia Hyporeflexia Obsessive-compulsive behavior Premature ovarian insufficiency Spastic paraparesis Short philtrum Pulmonic stenosis Urinary incontinence Brain atrophy Abnormal cerebellum morphology Juvenile rheumatoid arthritis Abnormality of movement Abnormality of skin pigmentation Myalgia Proximal muscle weakness Cerebral cortical atrophy Spasticity Cleft lip External ophthalmoplegia Abnormal pyramidal sign Ophthalmoplegia Dyskinesia Progressive cerebellar ataxia Neuronal loss in central nervous system Abnormality of extrapyramidal motor function Ophthalmoparesis Cerebellar atrophy Anorexia Pulmonary arterial hypertension Olivopontocerebellar atrophy Orofacial dyskinesia Muscle weakness Peripheral neuropathy Mask-like facies Postural instability Duodenal stenosis Retinal vascular tortuosity Graves disease Perimembranous ventricular septal defect Arteria lusoria Conotruncal defect Hypospadias Motor delay Hepatomegaly Poor fine motor coordination Interrupted aortic arch Aplasia of the uterus Right aortic arch Seborrheic dermatitis Resting tremor Abnormality of the thyroid gland Right aortic arch with mirror image branching Impaired T cell function Sacral meningocele Aplasia of the thymus Increased susceptibility to fractures Ascites Supranuclear gaze palsy Vertebral compression fractures Abdominal distention Hematuria Bruising susceptibility Periorbital edema Cirrhosis Lymphadenopathy Multiple myeloma Generalized myoclonic seizures Abnormality of eye movement Reduced bone mineral density Abnormal myocardium morphology Delayed puberty Abnormality of the eye Avascular necrosis of the capital femoral epiphysis Proteinuria Abnormality of the spleen Hepatosplenomegaly Generalized osteosclerosis Dyspnea Abnormal bleeding Bone pain Edema of the lower limbs Interstitial pulmonary abnormality Menorrhagia Increased antibody level in blood Hepatic fibrosis Abnormality of coagulation Decreased body weight Petechiae Increased bone mineral density Osteoarthritis Epistaxis Meningitis Pericardial effusion Pancytopenia Osteolysis Leukocytosis Clubbing Increased serum ferritin Protuberant abdomen Hepatocellular carcinoma Abdominal pain Osteomyelitis Leukopenia Gingival bleeding Oculomotor apraxia Portal hypertension Pathologic fracture Syncope Aseptic necrosis Cyanosis Abnormality of the thorax Apraxia Exertional dyspnea Osteopenia Holoprosencephaly Esodeviation Hypertonia Astigmatism Generalized tonic-clonic seizures Microtia Craniosynostosis Telecanthus Hydronephrosis Narrow mouth Flexion contracture Iris coloboma Neoplasm Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Psychotic episodes Polymicrogyria High, narrow palate Giant platelets Perisylvian polymicrogyria Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Femoral hernia Coarctation of aorta Hypoplasia of the thymus Anterior segment developmental abnormality Tetany Sclerocornea Exotropia Amblyopia Broad thumb Short palpebral fissure Velopharyngeal insufficiency Paranoia Hypersplenism Biliary tract obstruction Conductive hearing impairment Absent speech Intellectual disability, severe Horizontal supranuclear gaze palsy Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Vascular calcification Anal atresia Erlenmeyer flask deformity of the femurs Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Congenital cataract Vesicoureteral reflux Platybasia Abnormality of the ear Pulmonary artery atresia Abnormality of the endocrine system Pierre-Robin sequence Delusions Hearing abnormality Anal stenosis Submucous cleft hard palate Axonal loss Myopathic facies Underdeveloped nasal alae Hypoplasia of the brainstem Abnormality of the hand Myoclonus Narrow palpebral fissure Multicystic kidney dysplasia Hallucinations Open mouth Peripheral demyelination Osteoporosis Dysphasia Recurrent respiratory infections Vertigo Abnormality of neuronal migration Athetosis Emotional lability Slurred speech Muscle stiffness Clumsiness Broad-based gait Choreoathetosis Cerebral calcification Abnormality of the liver Frontotemporal dementia Paralysis Encephalopathy Headache Dystonia Ventriculomegaly Intrauterine growth retardation Impaired tandem gait Subcortical dementia Inertia Retrocollis Progressive encephalopathy Lewy bodies Diffuse cerebellar atrophy Sensorineural hearing impairment Severe global developmental delay Diabetes mellitus Hypogonadism Elevated serum creatine phosphokinase Cerebral atrophy Myopathy Cardiomyopathy Respiratory insufficiency Skeletal muscle atrophy Visual impairment Dense calcifications in the cerebellar dentate nucleus Abnormal lower motor neuron morphology Calcification of the small brain vessels Pill-rolling tremor Progressive choreoathetosis Micrographia Focal motor seizures Limb dysmetria Subcutaneous hemorrhage Pseudohypoparathyroidism Focal dystonia Calcinosis Obsessive-compulsive trait Impaired distal vibration sensation Lower limb muscle weakness Macular degeneration Spinocerebellar atrophy Supranuclear ophthalmoplegia Limb tremor Spinocerebellar tract degeneration Head tremor Slow saccadic eye movements Macular dystrophy Blurred vision Incoordination Pigmentary retinopathy Stroke Progressive visual loss Retinal degeneration Paraplegia Spastic paraplegia Retinopathy Reduced visual acuity Babinski sign Visual loss Blindness Optic atrophy Irritability Abnormality of the cerebral white matter Abnormal nerve conduction velocity Atrophy/Degeneration affecting the brainstem Abnormality of brainstem morphology Pollakisuria Saccadic smooth pursuit Dysesthesia Kinetic tremor Disinhibition Astrocytosis Diffuse cerebral atrophy Action tremor Urinary bladder sphincter dysfunction Bowel incontinence Distal sensory impairment Global brain atrophy Agitation Impotence Postural tremor Paraparesis Abnormal autonomic nervous system physiology Horizontal nystagmus Limb ataxia Intention tremor Hypotension Limb muscle weakness Paresthesia Delayed skeletal maturation Central sleep apnea Joint laxity Thin upper lip vermilion Macrotia Clinodactyly of the 5th finger Clinodactyly Pectus excavatum Short nose Macrocephaly Receptive language delay Expressive language delay Respiratory tract infection Prominent nasal tip Abnormality of the pharynx Hypocholesterolemia Abnormal renal morphology Speech apraxia Abnormality of chromosome segregation Poor eye contact High hypermetropia Open bite Abnormality of dental morphology Intellectual disability, moderate Pectus carinatum Trigonocephaly Horseshoe kidney Kyphosis Splenomegaly Congestive heart failure Diarrhea Growth delay Six lumbar vertebrae Subvalvular aortic stenosis Broad face Shallow orbits Sandal gap Narrow face Prominent nasal bridge Aspiration Aortic valve stenosis Prominent nose Single transverse palmar crease Tapered finger Everted lower lip vermilion Long face Oral cleft Joint hyperflexibility Facial asymmetry Language impairment Failure to thrive in infancy Sensory neuropathy Progressive hearing impairment Progressive external ophthalmoplegia Insomnia Coronary artery atherosclerosis Sensory axonal neuropathy Ventricular fibrillation Bilateral ptosis Dysphonia Mutism EMG: myopathic abnormalities Ragged-red muscle fibers Exercise intolerance Limb-girdle muscle weakness Bradycardia Diplopia Progressive muscle weakness Left ventricular hypertrophy Status epilepticus Ventricular hypertrophy Increased serum lactate Migraine Generalized muscle weakness Muscle cramps Mitochondrial myopathy Sensory ataxia Patent foramen ovale Wide mouth Infantile muscular hypotonia Sleep apnea Hypercholesterolemia Dental malocclusion Delayed myelination Triangular face Hypoplasia of the maxilla Smooth philtrum Hypermetropia Broad forehead Autistic behavior Cytochrome C oxidase-negative muscle fibers Feeding difficulties in infancy Apnea Low-set, posteriorly rotated ears Neonatal hypotonia Mandibular prognathia Intellectual disability, mild Wide nasal bridge Feeding difficulties Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Type I truncus arteriosus


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