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Pantothenate Kinase-Associated Neurodegeneration
Gene_reviews
Some individuals with Kufor-Rakeb syndrome have high brain iron [Schneider et al 2010]. ... Unlike PKAN, symmetric hyperintensities occur frequently in other regions of the basal ganglia (see Nuclear Gene-Encoded Leigh Syndrome Overview and Mitochondrial DNA-Associated Leigh Syndrome and NARP). ... Other disorders to consider: Neuronal ceroid-lipofuscinosis Childhood-onset hereditary ataxias (especially SCA3 and SCA7) Dystonias such as DYT1 Juvenile Huntington disease Chorea-acanthocytosis Lesch-Nyhan syndrome Wilson disease Recessive hereditary spastic paraplegia Tourette disorder [Scarano et al 2002] Neuroacanthocytosis syndromes. Neurologic disorders associated with RBC acanthocytosis are called neuroacanthocytosis syndromes. One group of neuroacanthocytosis syndromes is associated with lipid malabsorption and primarily affects the spinal cord, cerebellum, and peripheral nervous system. ... A second group of neuroacanthocytosis syndromes predominantly affects the central nervous system, in particular the basal ganglia, resulting in a chorea syndrome resembling Huntington disease.
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Congenital Adrenal Hyperplasia
Wikipedia
Young women may present with symptoms of polycystic ovarian syndrome ( oligomenorrhea , polycystic ovaries, hirsutism ). [ medical citation needed ] Males with classic CAH generally have no signs of CAH at birth. ... Morgagni 7:154–188, 1865) in 1963 for an article in The New England Journal of Medicine . 20th and 21st century [ edit ] The association of excessive sex steroid effects with diseases of the adrenal cortex have been recognized for over a century. The term adrenogenital syndrome was applied to both sex-steroid producing tumors and severe forms of CAH for much of the 20th century, before some of the forms of CAH were understood. ... ISBN 978-0891895671 . ^ Miller WL (January 2012). "The syndrome of 17,20 lyase deficiency" . The Journal of Clinical Endocrinology and Metabolism . 97 (1): 59–67. doi : 10.1210/jc.2011-2161 . ... PMID 15239019 . ^ Bongiovanni AM, Root AW (1963). "The Adrenogenital Syndrome". The New England Journal of Medicine . 268 (23): 1283–9 contd. doi : 10.1056/NEJM196306062682308 . ... Congenital adrenal hyperplasia at Curlie Classification D ICD - 11 : 5A71.01 ICD - 10 : E25.0 MeSH : D000312 v t e Adrenal gland disorder Hyperfunction Aldosterone Hyperaldosteronism Primary aldosteronism Conn syndrome Bartter syndrome Glucocorticoid remediable aldosteronism AME Liddle's syndrome 17α CAH Pseudohypoaldosteronism Cortisol Cushing's syndrome Pseudo-Cushing's syndrome Steroid-induced osteoporosis Sex hormones 21α CAH 11β CAH Hypofunction Aldosterone Hypoaldosteronism 21α CAH 11β CAH Cortisol CAH Lipoid 3β 11β 17α 21α Sex hormones 17α CAH Inborn errors of steroid metabolism Adrenal insufficiency Adrenal crisis Adrenalitis Xanthogranulomatous Addison's disease Waterhouse–Friderichsen syndrome v t e Inborn errors of steroid metabolism Mevalonate pathway HMG-CoA lyase deficiency Hyper-IgD syndrome Mevalonate kinase deficiency To cholesterol 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia CHILD syndrome Conradi-Hünermann syndrome Lathosterolosis Smith–Lemli–Opitz syndrome desmosterol path: Desmosterolosis Steroids Corticosteroid (including CAH ) aldosterone : Glucocorticoid remediable aldosteronism cortisol / cortisone : CAH 17α-hydroxylase CAH 11β-hydroxylase both: CAH 3β-dehydrogenase CAH 21-hydroxylase Apparent mineralocorticoid excess syndrome/11β-dehydrogenase Sex steroid To androgens 17α-Hydroxylase deficiency 17,20-Lyase deficiency Cytochrome b 5 deficiency 3β-Hydroxysteroid dehydrogenase deficiency 17β-Hydroxysteroid dehydrogenase deficiency 5α-Reductase deficiency Pseudovaginal perineoscrotal hypospadias To estrogens Aromatase deficiency Aromatase excess syndrome Other X-linked ichthyosis Antley–Bixler syndrome
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Variant Angina
Wikipedia
Individuals who develop cardiac chest pain are generally treated empirically as an " acute coronary syndrome ", and are immediately tested for elevations in their blood levels of enzymes such as creatine kinase isoenzymes or troponin that are markers for cardiac damage. ... American Heart Journal . 9 (2): 259–64. doi : 10.1016/S0002-8703(33)90720-6 . ^ Kemp HG, Jr; Vokonas, PS; Cohn, PF; Gorlin, R (June 1973). "The anginal syndrome associated with normal coronary arteriograms. ... "Diurnal and twenty-four hour patterning of human diseases: cardiac, vascular, and respiratory diseases, conditions, and syndromes". Sleep Medicine Reviews . 21 : 3–11. doi : 10.1016/j.smrv.2014.07.001 . ... PMID 23232800 . ^ Kounis NG (October 2016). "Kounis syndrome: an update on epidemiology, pathogenesis, diagnosis and therapeutic management". ... "Vasospastic Angina" . e-Journal of Cardiology Practice . 2 (9). v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever
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Fugue State
Wikipedia
Both global and situationally-specific amnesia are often distinguished from the organic amnesic syndrome, in that the capacity to store new memories and experiences remains intact. ... External links [ edit ] Classification D ICD - 10 : F44.1 ICD - 9-CM : 300.13 " Dissociative Fugue " from the Merck & Co. website. v t e Mental and behavioral disorders Adult personality and behavior Gender dysphoria Ego-dystonic sexual orientation Paraphilia Fetishism Voyeurism Sexual maturation disorder Sexual relationship disorder Other Factitious disorder Munchausen syndrome Intermittent explosive disorder Dermatillomania Kleptomania Pyromania Trichotillomania Personality disorder Childhood and learning Emotional and behavioral ADHD Conduct disorder ODD Emotional and behavioral disorders Separation anxiety disorder Movement disorders Stereotypic Social functioning DAD RAD Selective mutism Speech Stuttering Cluttering Tic disorder Tourette syndrome Intellectual disability X-linked intellectual disability Lujan–Fryns syndrome Psychological development ( developmental disabilities ) Pervasive Specific Mood (affective) Bipolar Bipolar I Bipolar II Bipolar NOS Cyclothymia Depression Atypical depression Dysthymia Major depressive disorder Melancholic depression Seasonal affective disorder Mania Neurological and symptomatic Autism spectrum Autism Asperger syndrome High-functioning autism PDD-NOS Savant syndrome Dementia AIDS dementia complex Alzheimer's disease Creutzfeldt–Jakob disease Frontotemporal dementia Huntington's disease Mild cognitive impairment Parkinson's disease Pick's disease Sundowning Vascular dementia Wandering Other Delirium Organic brain syndrome Post-concussion syndrome Neurotic , stress -related and somatoform Adjustment Adjustment disorder with depressed mood Anxiety Phobia Agoraphobia Social anxiety Social phobia Anthropophobia Specific social phobia Specific phobia Claustrophobia Other Generalized anxiety disorder OCD Panic attack Panic disorder Stress Acute stress reaction PTSD Dissociative Depersonalization disorder Dissociative identity disorder Fugue state Psychogenic amnesia Somatic symptom Body dysmorphic disorder Conversion disorder Ganser syndrome Globus pharyngis Psychogenic non-epileptic seizures False pregnancy Hypochondriasis Mass psychogenic illness Nosophobia Psychogenic pain Somatization disorder Physiological and physical behavior Eating Anorexia nervosa Bulimia nervosa Rumination syndrome Other specified feeding or eating disorder Nonorganic sleep Hypersomnia Insomnia Parasomnia Night terror Nightmare REM sleep behavior disorder Postnatal Postpartum depression Postpartum psychosis Sexual dysfunction Arousal Erectile dysfunction Female sexual arousal disorder Desire Hypersexuality Hypoactive sexual desire disorder Orgasm Anorgasmia Delayed ejaculation Premature ejaculation Sexual anhedonia Pain Nonorganic dyspareunia Nonorganic vaginismus Psychoactive substances, substance abuse and substance-related Drug overdose Intoxication Physical dependence Rebound effect Stimulant psychosis Substance dependence Withdrawal Schizophrenia , schizotypal and delusional Delusional Delusional disorder Folie à deux Psychosis and schizophrenia-like Brief reactive psychosis Schizoaffective disorder Schizophreniform disorder Schizophrenia Childhood schizophrenia Disorganized (hebephrenic) schizophrenia Paranoid schizophrenia Pseudoneurotic schizophrenia Simple-type schizophrenia Other Catatonia Symptoms and uncategorized Impulse control disorder Klüver–Bucy syndrome Psychomotor agitation Stereotypy
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Alopecia Universalis
Wikipedia
External links [ edit ] Classification D ICD - 10 : L63.1 v t e Disorders of skin appendages Nail thickness: Onychogryphosis Onychauxis color: Beau's lines Yellow nail syndrome Leukonychia Azure lunula shape: Koilonychia Nail clubbing behavior: Onychotillomania Onychophagia other: Ingrown nail Anonychia ungrouped: Paronychia Acute Chronic Chevron nail Congenital onychodysplasia of the index fingers Green nails Half and half nails Hangnail Hapalonychia Hook nail Ingrown nail Lichen planus of the nails Longitudinal erythronychia Malalignment of the nail plate Median nail dystrophy Mees' lines Melanonychia Muehrcke's lines Nail–patella syndrome Onychoatrophy Onycholysis Onychomadesis Onychomatricoma Onychomycosis Onychophosis Onychoptosis defluvium Onychorrhexis Onychoschizia Platonychia Pincer nails Plummer's nail Psoriatic nails Pterygium inversum unguis Pterygium unguis Purpura of the nail bed Racquet nail Red lunulae Shell nail syndrome Splinter hemorrhage Spotted lunulae Staining of the nail plate Stippled nails Subungual hematoma Terry's nails Twenty-nail dystrophy Hair Hair loss / Baldness noncicatricial alopecia : Alopecia areata totalis universalis Ophiasis Androgenic alopecia (male-pattern baldness) Hypotrichosis Telogen effluvium Traction alopecia Lichen planopilaris Trichorrhexis nodosa Alopecia neoplastica Anagen effluvium Alopecia mucinosa cicatricial alopecia : Pseudopelade of Brocq Central centrifugal cicatricial alopecia Pressure alopecia Traumatic alopecia Tumor alopecia Hot comb alopecia Perifolliculitis capitis abscedens et suffodiens Graham-Little syndrome Folliculitis decalvans ungrouped: Triangular alopecia Frontal fibrosing alopecia Marie Unna hereditary hypotrichosis Hypertrichosis Hirsutism Acquired localised generalised patterned Congenital generalised localised X-linked Prepubertal Acneiform eruption Acne Acne vulgaris Acne conglobata Acne miliaris necrotica Tropical acne Infantile acne / Neonatal acne Excoriated acne Acne fulminans Acne medicamentosa (e.g., steroid acne ) Halogen acne Iododerma Bromoderma Chloracne Oil acne Tar acne Acne cosmetica Occupational acne Acne aestivalis Acne keloidalis nuchae Acne mechanica Acne with facial edema Pomade acne Acne necrotica Blackhead Lupus miliaris disseminatus faciei Rosacea Perioral dermatitis Granulomatous perioral dermatitis Phymatous rosacea Rhinophyma Blepharophyma Gnathophyma Metophyma Otophyma Papulopustular rosacea Lupoid rosacea Erythrotelangiectatic rosacea Glandular rosacea Gram-negative rosacea Steroid rosacea Ocular rosacea Persistent edema of rosacea Rosacea conglobata variants Periorificial dermatitis Pyoderma faciale Ungrouped Granulomatous facial dermatitis Idiopathic facial aseptic granuloma Periorbital dermatitis SAPHO syndrome Follicular cysts " Sebaceous cyst " Epidermoid cyst Trichilemmal cyst Steatocystoma simplex multiplex Milia Inflammation Folliculitis Folliculitis nares perforans Tufted folliculitis Pseudofolliculitis barbae Hidradenitis Hidradenitis suppurativa Recurrent palmoplantar hidradenitis Neutrophilic eccrine hidradenitis Ungrouped Acrokeratosis paraneoplastica of Bazex Acroosteolysis Bubble hair deformity Disseminate and recurrent infundibulofolliculitis Erosive pustular dermatitis of the scalp Erythromelanosis follicularis faciei et colli Hair casts Hair follicle nevus Intermittent hair–follicle dystrophy Keratosis pilaris atropicans Kinking hair Koenen's tumor Lichen planopilaris Lichen spinulosus Loose anagen syndrome Menkes kinky hair syndrome Monilethrix Parakeratosis pustulosa Pili ( Pili annulati Pili bifurcati Pili multigemini Pili pseudoannulati Pili torti ) Pityriasis amiantacea Plica neuropathica Poliosis Rubinstein–Taybi syndrome Setleis syndrome Traumatic anserine folliculosis Trichomegaly Trichomycosis axillaris Trichorrhexis ( Trichorrhexis invaginata Trichorrhexis nodosa ) Trichostasis spinulosa Uncombable hair syndrome Wooly hair nevus Sweat glands Eccrine Miliaria Colloid milium Miliaria crystalline Miliaria profunda Miliaria pustulosa Miliaria rubra Occlusion miliaria Postmiliarial hypohidrosis Granulosis rubra nasi Ross’ syndrome Anhidrosis Hyperhidrosis Generalized Gustatory Palmoplantar Apocrine Body odor Chromhidrosis Fox–Fordyce disease Sebaceous Sebaceous hyperplasia v t e Human hair Classification by type Lanugo Androgenic Terminal Vellus by location Body Ear Nose Eyebrow unibrow Eyelash Underarm Chest Abdominal Pubic Leg Head hairstyles ( list ) Afro Afro puffs Asymmetric cut Bald Bangs Beehive Big hair Blowout Bob cut Bouffant Bowl cut Braid Brush cut Bun ( odango ) Bunches Burr Businessman cut Butch cut Buzz cut Caesar cut Chignon Chonmage Chupryna Comb over Conk Cornrows Crew cut Crochet braids Croydon facelift Curly hair Curtained hair Devilock Dido flip Digital perm Dreadlocks Duck's ass Eton crop Extensions Feathered hair Finger wave Flattop Fontange French braid French twist Fringe Frosted tips Hair crimping Harvard clip High and tight Hime cut Historical Christian hairstyles Hi-top fade Induction cut Ivy League Jewfro Jheri curl Kiss curl Layered hair Liberty spikes Long hair Lob cut Marcelling Mod cut Mohawk Mullet 1950s 1980s Pageboy Part Payot Pigtail Pixie cut Polish halfshaven head Pompadour Ponytail Punch perm Princeton Professional cut Queue Quiff Rattail Razor cut Regular haircut Ringlets Shag Shape-Up Shimada Short back and sides Short brush cut Short hair Spiky hair Straight hair Standard haircut Surfer hair Taper cut Temple Fade Tonsure Updo Undercut Waves Widow's peak Wings Facial hair ( list ) Beard Chinstrap Goatee Shenandoah Soul patch Van Dyke Moustache Fu Manchu handlebar horseshoe pencil toothbrush walrus Designer stubble Sideburns Hair loss cosmetic Removal waxing threading plucking chemical electric laser IPL Shaving head leg cream brush soap Razor electric safety straight other Alopecia areata totalis universalis Frictional alopecia Male-pattern hair loss Hypertrichosis Management Trichophilia Trichotillomania Pogonophobia Haircare products Brush Clay Clipper Comb Conditioner Dryer Gel Hot comb Iron Mousse Pomade Relaxer Rollers Shampoo Spray Wax Haircare techniques Backcombing Crimping Curly Girl Method Hair cutting Perm Shampoo and set Straightening Related topics Afro-textured hair ( kinky hair ) Beard and haircut laws by country Bearded lady Barber ( pole ) Eponymous hairstyle Frizz Good hair Hairdresser Hair fetishism ( pubic ) Hair follicle Hair growth Hypertrichosis Trichotillomania
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Non Scarring Hair Loss
Wikipedia
Classification D ICD - 10 : L63-L65 v t e Disorders of skin appendages Nail thickness: Onychogryphosis Onychauxis color: Beau's lines Yellow nail syndrome Leukonychia Azure lunula shape: Koilonychia Nail clubbing behavior: Onychotillomania Onychophagia other: Ingrown nail Anonychia ungrouped: Paronychia Acute Chronic Chevron nail Congenital onychodysplasia of the index fingers Green nails Half and half nails Hangnail Hapalonychia Hook nail Ingrown nail Lichen planus of the nails Longitudinal erythronychia Malalignment of the nail plate Median nail dystrophy Mees' lines Melanonychia Muehrcke's lines Nail–patella syndrome Onychoatrophy Onycholysis Onychomadesis Onychomatricoma Onychomycosis Onychophosis Onychoptosis defluvium Onychorrhexis Onychoschizia Platonychia Pincer nails Plummer's nail Psoriatic nails Pterygium inversum unguis Pterygium unguis Purpura of the nail bed Racquet nail Red lunulae Shell nail syndrome Splinter hemorrhage Spotted lunulae Staining of the nail plate Stippled nails Subungual hematoma Terry's nails Twenty-nail dystrophy Hair Hair loss / Baldness noncicatricial alopecia : Alopecia areata totalis universalis Ophiasis Androgenic alopecia (male-pattern baldness) Hypotrichosis Telogen effluvium Traction alopecia Lichen planopilaris Trichorrhexis nodosa Alopecia neoplastica Anagen effluvium Alopecia mucinosa cicatricial alopecia : Pseudopelade of Brocq Central centrifugal cicatricial alopecia Pressure alopecia Traumatic alopecia Tumor alopecia Hot comb alopecia Perifolliculitis capitis abscedens et suffodiens Graham-Little syndrome Folliculitis decalvans ungrouped: Triangular alopecia Frontal fibrosing alopecia Marie Unna hereditary hypotrichosis Hypertrichosis Hirsutism Acquired localised generalised patterned Congenital generalised localised X-linked Prepubertal Acneiform eruption Acne Acne vulgaris Acne conglobata Acne miliaris necrotica Tropical acne Infantile acne / Neonatal acne Excoriated acne Acne fulminans Acne medicamentosa (e.g., steroid acne ) Halogen acne Iododerma Bromoderma Chloracne Oil acne Tar acne Acne cosmetica Occupational acne Acne aestivalis Acne keloidalis nuchae Acne mechanica Acne with facial edema Pomade acne Acne necrotica Blackhead Lupus miliaris disseminatus faciei Rosacea Perioral dermatitis Granulomatous perioral dermatitis Phymatous rosacea Rhinophyma Blepharophyma Gnathophyma Metophyma Otophyma Papulopustular rosacea Lupoid rosacea Erythrotelangiectatic rosacea Glandular rosacea Gram-negative rosacea Steroid rosacea Ocular rosacea Persistent edema of rosacea Rosacea conglobata variants Periorificial dermatitis Pyoderma faciale Ungrouped Granulomatous facial dermatitis Idiopathic facial aseptic granuloma Periorbital dermatitis SAPHO syndrome Follicular cysts " Sebaceous cyst " Epidermoid cyst Trichilemmal cyst Steatocystoma simplex multiplex Milia Inflammation Folliculitis Folliculitis nares perforans Tufted folliculitis Pseudofolliculitis barbae Hidradenitis Hidradenitis suppurativa Recurrent palmoplantar hidradenitis Neutrophilic eccrine hidradenitis Ungrouped Acrokeratosis paraneoplastica of Bazex Acroosteolysis Bubble hair deformity Disseminate and recurrent infundibulofolliculitis Erosive pustular dermatitis of the scalp Erythromelanosis follicularis faciei et colli Hair casts Hair follicle nevus Intermittent hair–follicle dystrophy Keratosis pilaris atropicans Kinking hair Koenen's tumor Lichen planopilaris Lichen spinulosus Loose anagen syndrome Menkes kinky hair syndrome Monilethrix Parakeratosis pustulosa Pili ( Pili annulati Pili bifurcati Pili multigemini Pili pseudoannulati Pili torti ) Pityriasis amiantacea Plica neuropathica Poliosis Rubinstein–Taybi syndrome Setleis syndrome Traumatic anserine folliculosis Trichomegaly Trichomycosis axillaris Trichorrhexis ( Trichorrhexis invaginata Trichorrhexis nodosa ) Trichostasis spinulosa Uncombable hair syndrome Wooly hair nevus Sweat glands Eccrine Miliaria Colloid milium Miliaria crystalline Miliaria profunda Miliaria pustulosa Miliaria rubra Occlusion miliaria Postmiliarial hypohidrosis Granulosis rubra nasi Ross’ syndrome Anhidrosis Hyperhidrosis Generalized Gustatory Palmoplantar Apocrine Body odor Chromhidrosis Fox–Fordyce disease Sebaceous Sebaceous hyperplasia
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Nail Biting
Wikipedia
External links [ edit ] Classification D ICD - 10 : F98.8 ( ILDS F98.810) ICD - 9-CM : 307.9 MeSH : D009259 DiseasesDB : 31465 Media related to Onychophagia at Wikimedia Commons v t e Emotional and behavioral disorders Emotional/behavioral ADHD Conduct disorder Oppositional defiant disorder Emotional/behavioral disorder (EBD) Separation anxiety Social functioning Selective mutism RAD DAD Tic disorders Tourette syndrome Speech disorders Stuttering Cluttering Stereotypic movement disorder Elimination disorders Enuresis Encopresis v t e Mental and behavioral disorders Adult personality and behavior Gender dysphoria Ego-dystonic sexual orientation Paraphilia Fetishism Voyeurism Sexual maturation disorder Sexual relationship disorder Other Factitious disorder Munchausen syndrome Intermittent explosive disorder Dermatillomania Kleptomania Pyromania Trichotillomania Personality disorder Childhood and learning Emotional and behavioral ADHD Conduct disorder ODD Emotional and behavioral disorders Separation anxiety disorder Movement disorders Stereotypic Social functioning DAD RAD Selective mutism Speech Stuttering Cluttering Tic disorder Tourette syndrome Intellectual disability X-linked intellectual disability Lujan–Fryns syndrome Psychological development ( developmental disabilities ) Pervasive Specific Mood (affective) Bipolar Bipolar I Bipolar II Bipolar NOS Cyclothymia Depression Atypical depression Dysthymia Major depressive disorder Melancholic depression Seasonal affective disorder Mania Neurological and symptomatic Autism spectrum Autism Asperger syndrome High-functioning autism PDD-NOS Savant syndrome Dementia AIDS dementia complex Alzheimer's disease Creutzfeldt–Jakob disease Frontotemporal dementia Huntington's disease Mild cognitive impairment Parkinson's disease Pick's disease Sundowning Vascular dementia Wandering Other Delirium Organic brain syndrome Post-concussion syndrome Neurotic , stress -related and somatoform Adjustment Adjustment disorder with depressed mood Anxiety Phobia Agoraphobia Social anxiety Social phobia Anthropophobia Specific social phobia Specific phobia Claustrophobia Other Generalized anxiety disorder OCD Panic attack Panic disorder Stress Acute stress reaction PTSD Dissociative Depersonalization disorder Dissociative identity disorder Fugue state Psychogenic amnesia Somatic symptom Body dysmorphic disorder Conversion disorder Ganser syndrome Globus pharyngis Psychogenic non-epileptic seizures False pregnancy Hypochondriasis Mass psychogenic illness Nosophobia Psychogenic pain Somatization disorder Physiological and physical behavior Eating Anorexia nervosa Bulimia nervosa Rumination syndrome Other specified feeding or eating disorder Nonorganic sleep Hypersomnia Insomnia Parasomnia Night terror Nightmare REM sleep behavior disorder Postnatal Postpartum depression Postpartum psychosis Sexual dysfunction Arousal Erectile dysfunction Female sexual arousal disorder Desire Hypersexuality Hypoactive sexual desire disorder Orgasm Anorgasmia Delayed ejaculation Premature ejaculation Sexual anhedonia Pain Nonorganic dyspareunia Nonorganic vaginismus Psychoactive substances, substance abuse and substance-related Drug overdose Intoxication Physical dependence Rebound effect Stimulant psychosis Substance dependence Withdrawal Schizophrenia , schizotypal and delusional Delusional Delusional disorder Folie à deux Psychosis and schizophrenia-like Brief reactive psychosis Schizoaffective disorder Schizophreniform disorder Schizophrenia Childhood schizophrenia Disorganized (hebephrenic) schizophrenia Paranoid schizophrenia Pseudoneurotic schizophrenia Simple-type schizophrenia Other Catatonia Symptoms and uncategorized Impulse control disorder Klüver–Bucy syndrome Psychomotor agitation Stereotypy
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Kyphosis
Wikipedia
The main goal is to return the damaged vertebra as close as possible to its original height. [19] People [ edit ] Şehzade Cihangir Mahmud I Godfrey IV, Duke of Lower Lorraine Benjamin Lay Georg Christoph Lichtenberg Margaret of Bavaria (1442–1479) Pepin the Hunchback Charles Proteus Steinmetz See also [ edit ] Ehlers–Danlos syndrome The Hunchback of Notre-Dame The Hunchback of Notre Dame (1939 film) The Hunchback of Notre Dame (1996 film) Loeys–Dietz syndrome Pott disease Igor References [ edit ] ^ Fon GT, Pitt MJ, Thies AC (May 1980). ... External links [ edit ] Kypho , definition and other related medical terms Classification D ICD - 10 : M40.0 - M40.2 , M42.0 , E64.3 , Q76.4 , M84.0 , M96.2 , M96.3 ICD - 9-CM : 732.0 , 737.0 , 737.1 , 756.19 MeSH : D007738 DiseasesDB : 21885 SNOMED CT : 414564002 External resources MedlinePlus : 001240 Patient UK : Kyphosis Wikimedia Commons has media related to Kyphosis . v t e Spinal disease Deforming Spinal curvature Kyphosis Lordosis Scoliosis Other Scheuermann's disease Torticollis Spondylopathy inflammatory Spondylitis Ankylosing spondylitis Sacroiliitis Discitis Spondylodiscitis Pott disease non inflammatory Spondylosis Spondylolysis Spondylolisthesis Retrolisthesis Spinal stenosis Facet syndrome Back pain Neck pain Upper back pain Low back pain Coccydynia Sciatica Radiculopathy Intervertebral disc disorder Schmorl's nodes Degenerative disc disease Spinal disc herniation Facet joint arthrosis v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatumPLOD1, SLC26A2, PARP1, SLC39A13, LTBP3, FHL1, FGFR3, IDUA, HLA-B, TRIO, SYNE2, KLHL41, TGFB1, SEC23B, EBP, DLL3, CPLX1, TLK2, ERLIN2, RAB3GAP1, RAB18, DKK1, ACTA1, TBX5, MAPK8IP3, EXOC6B, UBA1, BICD2, SYNE1, OBSL1, TBX2, CLCF1, ATP6V0A2, NPAP1, RAB3GAP2, SH2B1, AUTS2, WIPI2, ZBTB20, TBL2, CCDC22, ZMPSTE24, MKRN3-AS1, MFN2, WASHC5, CLIP2, WHCR, NSD2, NELFA, WNT1, MKRN3, ALMS1, NAA10, ARID1A, CUL4B, TPM2, KCNAB2, MBTPS1, CCN6, HERC2, HERC1, BAZ1B, AIP, USP8, AIFM1, CTDP1, CRLF1, PLAA, EIF2AK3, GTF2IRD1, PTDSS1, TPI1, CUL7, SEC24D, FLVCR1, ACP5, NDUFAF4, GPR101, MGME1, WNT3A, HES7, GNPTG, PHF6, CCDC8, LAS1L, FKRP, ASXL3, PUS1, ALG9, SRD5A3, TMEM43, GNPTAB, SLC52A3, CANT1, B3GALT6, TBC1D20, RIPPLY2, VPS37A, PWAR1, MESP2, VPS13B, ARID2, KANSL1, SH3PXD2B, SNORD115-1, KY, FAM111B, PWRN1, SNORD116-1, FA2H, UPF3B, ANKRD11, FGFRL1, SETD5, BCOR, DYM, P4HTM, GTPBP2, MAGEL2, MBTPS2, KLC2, NDUFAF1, SEPSECS, YARS2, PDE11A, NSDHL, VAMP1, ASXL2, UFSP2, KMT2E, ZC4H2, LMOD3, SHROOM4, ARID1B, HACE1, TRPV4, SLC5A7, FKBP10, PIEZO2, PRDM16, P3H1, ROBO3, NXN, SIL1, TAF1, TFAP2A, KLLN, L1CAM, COL1A1, GNAS, GRIA3, GTF2I, HTT, HGD, HSPG2, IDS, ERCC8, SOX11, IPW, KIF22, CHRNG, NOTCH2, LETM1, CFL2, LFNG, LIMK1, LMNA, SCARB2, MECP2, MEIS2, NDN, NEB, NEU1, TONSL, GLI3, GLE1, GLB1, GJB1, CSF1R, CTBP1, CTSK, COL11A2, COL6A3, DCC, DHCR7, TOR1A, COL6A2, ELN, COL6A1, EMD, COL5A2, ERCC6, COL5A1, COL2A1, EXTL3, EZH2, COL1A2, FOXG1, FN1, FUCA1, GABRD, GALNS, GBA, COMP, NONO, NOTCH3, RET, NPR2, BGN, ATP7A, RERE, SDHB, SDHC, SDHD, TRAPPC2, ASAH1, SKI, SMARCA4, ABCC6, BIN1, SMARCB1, ALDH3A2, SMARCC2, SMARCE1, AKT1, AGA, SNRPB, SNRPN, SON, SOX4, ACTB, SOX9, RFC2, RPS6KA3, DPF2, POLD1, ROR2, NUP88, OCRL, TNFRSF11B, P4HB, CBS, RUNX2, PIK3CA, PLOD2, PMM2, PIK3R2, COL12A1, PTEN, PTCH1, PPIB, PRKAR1A, CTSA, PRPS1, MAP2K1, RSS, SMS, LGALS1, DMD, CD6, BMP2, MPEG1, CALR, DHDDS, ALDH2, CAPG, CD38, TRIM21, CRP, PGR, MAPK1, PKD2L1, PTPN11, DYSF, RPS27, UBL4A, SFPQ, SHOX, BEST1, UTRN, TTK, TSC2, CLEC3B, THBS1, MAP3K7, PLAT, PCNA, ASPSCR1, CTPP, CD55, DAO, EPHA2, NCOA5, SEMA6A, EPHB2, CHPT1, BBX, FBN1, APH1A, IGFBP7, LBP, ASF1A, SMAD3, CD46, IL6
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Dysmetria
Wikipedia
According to the research article cited above, motor control is a learning process that utilizes APPGs. [8] Disruption of APPGs is possibly the cause of ataxia and dysmetria and upon identification of the motor primitives, clinicians may be able to isolate the specific areas responsible for the cerebellar problems. [8] There are two types of cerebellar disorders that produce dysmetria, specifically midline cerebellar syndromes and hemispheric cerebellar syndromes. Midline cerebellar syndromes can cause ocular dysmetria , a condition in which the eyes can not track an object properly and either overshoot (ahead of the object )or undershoot (lagging behind the object). Ocular dysmetria also makes it difficult to maintain fixation on a stationary object. Hemispheric cerebellar syndromes cause dysmetria in the typical motor sense that many think of when hearing the term dysmetria. A common motor syndrome that causes dysmetria is cerebellar motor syndrome, which also marked by impairments in gait (also known as ataxia ), disordered eye movements, tremor , difficulty swallowing and poor articulation . [5] As stated above, cerebellar cognitive affective syndrome (CCAS) also causes dysmetria. ... "Disorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome". J Neuropsychiatry Clin Neurosci . 16 (3): 367–78. doi : 10.1176/jnp.16.3.367 .RFC1, SNX14, SCN8A, RPL27A, STUB1, ATXN10, TTC19, GTPBP2, TMEM106B, PTRH2, AP5Z1, TIMMDC1, PNPLA8, TBL2, SACS, ATP6AP2, HIBCH, ABHD12, PLD3, WARS2, PIK3R5, ADPRS, CAMTA1, PMPCA, NFASC, SPART, SETX, POLR3A, AFG3L2, KIF1C, YME1L1, NOP56, SYNE1, ABCB7, PUM1, LNPK, TGM6, JMJD8, EBF3, BRAT1, SAMD9L, VWA3B, PRICKLE1, WDR81, SFXN4, MARS2, NDUFAF2, SLC25A46, REPS1, TCTN2, ANO10, FA2H, COA7, IRF2BPL, PIEZO2, MYORG, GJC2, COQ8A, ERMARD, NGLY1, POLR3B, CWF19L1, DARS2, MSTO1, TECPR2, PMPCB, GTF2IRD1, PEX2, PRKCG, PPP2R2B, PLP1, PDYN, OPHN1, OPA1, NEU1, MRE11, MAG, LIMK1, KCNC1, ITPR1, IFRD1, GTF2I, GRM1, GRID2, GJB1, B4GALNT1, FXN, FMR1, ELN, ATN1, CRAT, TPP1, ERCC8, CAV1, KIF1A, PRNP, RARS1, ATP1A3, RFC2, ATG5, PEX16, ADGRG1, CACNA2D2, CTDP1, BAZ1B, CACNA1G, SQSTM1, GPAA1, DEGS1, PLA2G6, ACOX2, LAGE3, XRCC4, XRCC1, CLIP2, VLDLR, UCHL1, TTPA, TOP3A, TBP, SPTBN2, SLC9A1, SCN2A, ATXN7, ATXN2, ATXN1, CCDC88C
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Aneurysm Of Sinus Of Valsalva
Wikipedia
Aortic sinus aneurysms may occur in isolation, or may been seen in association with other diseases of the aorta including Marfan syndrome , Loeys-Dietz syndrome , and bicuspid aortic valve . ... It is sometimes associated with Marfan syndrome or Loeys–Dietz syndrome , but may also result from Ehlers–Danlos syndrome , bicuspid aortic valve , [3] atherosclerosis , hypoplastic left heart syndrome , syphilis , cystic medial necrosis , chest injury, or infective endocarditis . ... External links [ edit ] Classification D ICD - 10 : Q25.4 ( EUROCAT Q25.43) ICD - 9-CM : 442.9 DiseasesDB : 32260 External resources eMedicine : med/2133 ped/2106 VIRTUAL TEE - Synopsis of SOVA with video of 2D and 3D TEE v t e Congenital vascular defects / Vascular malformation Great arteries / other arteries Aorta Patent ductus arteriosus Coarctation of the aorta Interrupted aortic arch Double aortic arch Right-sided aortic arch Overriding aorta Aneurysm of sinus of Valsalva Vascular ring Pulmonary artery Pulmonary atresia Stenosis of pulmonary artery Subclavian artery Aberrant subclavian artery Umbilical artery Single umbilical artery Great veins Superior / inferior vena cava Congenital stenosis of vena cava Persistent left superior vena cava Pulmonary vein Anomalous pulmonary venous connection ( Total , Partial ) Scimitar syndrome Arteriovenous malformation Cerebral arteriovenous malformation
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Spinal Disease
Wikipedia
Some other spinal diseases include spinal muscular atrophy , ankylosing spondylitis , lumbar spinal stenosis , spina bifida , spinal tumors , osteoporosis and cauda equina syndrome . Contents 1 Types 1.1 Scoliosis 1.2 Lumbar spinal stenosis 1.3 Spina bifida 1.4 Cauda equina syndrome 1.5 Tumors 2 References 3 External links Types [ edit ] There are many recognized spinal diseases, some more common than others. ... Severity of symptoms can vary per situation. [7] Cauda equina syndrome [ edit ] Cauda equina syndrome is a rare syndrome that effects the spinal nerves in the region of the lower back called the cauda equine (Latin for "horses tail"). ... Retrieved 2017-04-04 . ^ Curley, A.E.; Kelleher, C.; Shortt, C.P.; Kiely, P.J. (2016-01-01). "Cauda Equina Syndrome: A case study and review of the literature". ... External links [ edit ] Classification D ICD - 10 : M40 - M54 ICD - 9-CM : 720 - 724 MeSH : D013122 v t e Spinal disease Deforming Spinal curvature Kyphosis Lordosis Scoliosis Other Scheuermann's disease Torticollis Spondylopathy inflammatory Spondylitis Ankylosing spondylitis Sacroiliitis Discitis Spondylodiscitis Pott disease non inflammatory Spondylosis Spondylolysis Spondylolisthesis Retrolisthesis Spinal stenosis Facet syndrome Back pain Neck pain Upper back pain Low back pain Coccydynia Sciatica Radiculopathy Intervertebral disc disorder Schmorl's nodes Degenerative disc disease Spinal disc herniation Facet joint arthrosis
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Opsismodysplasia
Wikipedia
External links [ edit ] Classification D ICD - 10 : Q77.8 OMIM : 258480 MeSH : C537122 DiseasesDB : 31936 External resources Orphanet : 2746 v t e Osteochondrodysplasia Osteodysplasia/ / osteodystrophy Diaphysis Camurati–Engelmann disease Metaphysis Metaphyseal dysplasia Jansen's metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia Epiphysis Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Osteosclerosis Raine syndrome Osteopoikilosis Osteopetrosis Other/ungrouped FLNB Boomerang dysplasia Opsismodysplasia Polyostotic fibrous dysplasia McCune–Albright syndrome Chondrodysplasia / chondrodystrophy (including dwarfism ) Osteochondroma osteochondromatosis Hereditary multiple exostoses Chondroma / enchondroma enchondromatosis Ollier disease Maffucci syndrome Growth factor receptor FGFR2 : Antley–Bixler syndrome FGFR3 : Achondroplasia Hypochondroplasia Thanatophoric dysplasia COL2A1 collagen disease Achondrogenesis type 2 Hypochondrogenesis SLC26A2 sulfation defect Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia Chondrodysplasia punctata Rhizomelic chondrodysplasia punctata Conradi–Hünermann syndrome Other dwarfism Fibrochondrogenesis Short rib – polydactyly syndrome Majewski's polydactyly syndrome Léri–Weill dyschondrosteosis
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Neuromuscular Disease
Wikipedia
Spinal muscular atrophies are disorders of lower motor neuron while amyotrophic lateral sclerosis is a mixed upper and lower motor neuron condition. [ medical citation needed ] Contents 1 Symptoms and signs 2 Causes 3 Diagnosis 4 Prognosis 5 See also 6 References 7 Further reading 8 External links Symptoms and signs [ edit ] Symptoms of neuromuscular disease may include the following: [2] [5] Numbness Paresthesia Muscle weakness Muscle atrophy Myalgia (muscle pain) Fasciculations (muscle twitches) Causes [ edit ] Neuromuscular disease can be caused by autoimmune disorders, [1] genetic/hereditary disorders [2] and some forms of the collagen disorder Ehlers–Danlos Syndrome , [6] exposure to environmental chemicals and poisoning which includes heavy metal poisoning . [3] The failure of the electrical insulation surrounding nerves, the myelin , is seen in certain deficiency diseases, such as the failure of the body's system for absorbing vitamin B-12 [3] Diseases of the motor end plate include myasthenia gravis , a form of muscle weakness due to antibodies against acetylcholine receptor, [7] and its related condition Lambert-Eaton myasthenic syndrome (LEMS). [8] Tetanus and botulism are bacterial infections in which bacterial toxins cause increased or decreased muscle tone, respectively. [9] Muscular dystrophies , including Duchenne's and Becker's , are a large group of diseases, many of them hereditary or resulting from genetic mutations , where the muscle integrity is disrupted, they lead to progressive loss of strength and decreased life span. [10] Further causes of neuromuscular diseases are : Polymyositis Inflammatory muscle disorders Polymyalgia rheumatica (or "muscle rheumatism") is an inflammatory condition that mainly occurs in the elderly; it is associated with giant-cell arteritis (It often responds to prednisolone ). [11] Polymyositis is an autoimmune condition in which the muscle is affected. [12] Rhabdomyolysis is the breakdown of muscular tissue due to any cause. [13] Tumors Smooth muscle: leiomyoma (benign) [14] Striated muscle: rhabdomyoma (benign) [15] Diagnosis [ edit ] Nerve conduction velocity (study) Diagnostic procedures that may reveal muscular disorders include direct clinical observations. ... "Neuromuscular involvement in various types of Ehlers-Danlos syndrome". Annals of Neurology . 65 (6): 687–97. doi : 10.1002/ana.21643 . PMID 19557868 . ^ Myasthenia Gravis at eMedicine ^ Lambert-Eaton Myasthenic Syndrome (LEMS) at eMedicine ^ Kumar, Vinay; Abbas, Abul K.; Aster, Jon C. (2014-09-05). ... External links [ edit ] Classification D ICD - 10 : G70.9 MeSH : D009468 External resources Orphanet : 68381 Scholia has a topic profile for Neuromuscular disease . v t e Diseases of muscle , neuromuscular junction , and neuromuscular disease Neuromuscular- junction disease autoimmune Myasthenia gravis Lambert–Eaton myasthenic syndrome Neuromyotonia Myopathy Muscular dystrophy ( DAPC ) AD Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal (most) AR Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker–Warburg XR dystrophin Becker's Duchenne Emery–Dreifuss Other structural collagen disease Bethlem myopathy PTP disease X-linked MTM adaptor protein disease BIN1-linked centronuclear myopathy cytoskeleton disease Nemaline myopathy Zaspopathy Channelopathy Myotonia Myotonia congenita Thomsen disease Neuromyotonia / Isaacs syndrome Paramyotonia congenita Periodic paralysis Hypokalemic Thyrotoxic Hyperkalemic Other Central core disease Mitochondrial myopathy MELAS MERRF KSS PEO General Inflammatory myopathy Congenital myopathy v t e Symptoms and signs relating to movement and gait Gait Gait abnormality CNS Scissor gait Cerebellar ataxia Festinating gait Marche à petit pas Propulsive gait Stomping gait Spastic gait Magnetic gait Truncal ataxia Muscular Myopathic gait Trendelenburg gait Pigeon gait Steppage gait Antalgic gait Coordination Ataxia Cerebellar ataxia Dysmetria Dysdiadochokinesia Pronator drift Dyssynergia Sensory ataxia Asterixis Abnormal movement Athetosis Tremor Fasciculation Fibrillation Posturing Abnormal posturing Opisthotonus Spasm Trismus Cramp Tetany Myokymia Joint locking Paralysis Flaccid paralysis Spastic paraplegia Spastic diplegia Spastic paraplegia Syndromes Monoplegia Diplegia / Paraplegia Hemiplegia Triplegia Tetraplegia / Quadruplegia General causes Upper motor neuron lesion Lower motor neuron lesion Weakness Hemiparesis Other Rachitic rosary Hyperreflexia Clasp-knife responseTPI1, XK, RYR1, LMNA, TRPV4, DES, TTN, EMD, ACTA1, SGCD, STMN1, MYH7, DMPK, DMD, LDB3, TTN-AS1, AR, SMN2, SNRPN, SMN1, SNURF, DNM2, SCN4A, GNE, BEST1, HSPB8, DYSF, FST, CAPN3, MTM1, GDNF, MSTN, CAV3, FXN, SOD1, DAG1, TCAP, NEB, POMT1, IGF1, LAMA2, PABPN1, FKRP, GOLGA2, CHAT, GAA, ANO5, DOK7, FLNC, HGF, CHCHD10, ACE, SBF2, SIGMAR1, TRIP4, DTNBP1, SMDT1, MAD2L1BP, MYOT, SPEG, ECEL1, ADGRG6, JSRP1, USP14, PKD1L2, MICU1, KLHL40, MGAM, EPGN, KHSRP, COPD, PKP4, KY, MIR206, DUX4, TFG, CLP1, SYNC, COQ2, SLC7A10, JPH3, DNAJC11, RIC8A, MFN1, MSTO1, CSRP3, ASCC1, ICOS, HTRA2, EIF3K, FGF21, SELENON, ZNF106, FBXL4, MACF1, TARDBP, KLC2, SYNE1, BICD2, KIF1B, STRAP, LIAS, IMMT, PLA1A, AAVS1, XPO1, DCTN1, MEF2C, MEF2A, MB, MAG, LRP4, IGFALS, HTC2, HSPD1, HSPA4, HRAS, GJB1, GFPT1, FRG1, ACSL4, DAP, VCP, COL15A1, COL4A1, CHRND, CAV2, CACNA1D, BGN, BDNF, BCL2, AVP, ATP7A, APRT, APOE, AMCN, ACTB, MFAP1, MMP2, MMP9, COX3, TNNT1, TIMP2, TIMP1, TH, TAZ, SI, SGCG, ACHE, SGCA, SCN8A, ATXN1, RYR3, RPL3, PTGS1, POLG, PMP22, PLEC, PIK3CG, PIK3CD, PIK3CB, PIK3CA, PDCD1, PAX7, NOS1, NEFL, NAIP, MYH2, MUSK, CYTB, SGCB
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Thrombocythemia
Wikipedia
External links [ edit ] Classification D ICD - 10 : D47.3 ICD - 9-CM : 289.9 MeSH : D013922 DiseasesDB : 27591 External resources MedlinePlus : 000543 eMedicine : med/2267 ped/2238 Patient UK : Thrombocythemia v t e Disorders of bleeding and clotting Coagulation · coagulopathy · Bleeding diathesis Clotting By cause Clotting factors Antithrombin III deficiency Protein C deficiency Activated protein C resistance Protein S deficiency Factor V Leiden Prothrombin G20210A Platelets Sticky platelet syndrome Thrombocytosis Essential thrombocythemia DIC Purpura fulminans Antiphospholipid syndrome Clots Thrombophilia Thrombus Thrombosis Virchow's triad Trousseau sign of malignancy By site Deep vein thrombosis Bancroft's sign Homans sign Lisker's sign Louvel's sign Lowenberg's sign Peabody's sign Pratt's sign Rose's sign Pulmonary embolism Renal vein thrombosis Bleeding By cause Thrombocytopenia Thrombocytopenic purpura : ITP Evans syndrome TM TTP Upshaw–Schulman syndrome Heparin-induced thrombocytopenia May–Hegglin anomaly Platelet function adhesion Bernard–Soulier syndrome aggregation Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome Clotting factor Hemophilia A/VIII B/IX C/XI von Willebrand disease Hypoprothrombinemia/II Factor VII deficiency Factor X deficiency Factor XII deficiency Factor XIII deficiency Dysfibrinogenemia Congenital afibrinogenemia Signs and symptoms Bleeding Bruise Hematoma Petechia Purpura Nonthrombocytopenic purpura By site head Epistaxis Hemoptysis Intracranial hemorrhage Hyphema Subconjunctival hemorrhage torso Hemothorax Hemopericardium Pulmonary hematoma abdomen Gastrointestinal bleeding Hemobilia Hemoperitoneum Hematocele Hematosalpinx joint HemarthrosisTHPO, MPL, JAK2, CALR, ABL1, SF3B1, BCR, RPS14, LMNA, HLA-DQB1, HMGCL, IFNGR1, ZMPSTE24, SH2B3, ACAT1, MTHFD1, HBB, TTC37, PMM2, RPS19, SKIV2L, HLA-DQA1, STING1, ADA2, ELANE, ANTXR2, TBC1D24, RUNX1, TET2, IL6, CRP, MUC16, MIR146A, EPO, TPO, MIR145, VWF, NFE2, RARS1, COX8A, COPD, AGER, IFNA1, SCO2, CD177, TYMP, AR, VEGFA, NAAA, TRAF6, TFRC, KANK1, DAAM1, CD274, ADAMTS13, CXCR4, SLU7, TUBA1B, P2RY12, TRNT1, NF1, STAT5B, STAT5A, ALK, APOB, AQP1, BAX, BLVRB, CBL, CCR7, CPB2, CSF3, CSNK1A1, MECOM, F2, FANCB, HLA-DPA1, HP, HSP90AA1, IFNA2, IFNA13, IFNG, IL1B, IL4, IL10, LAIR1, PAEP, PDGFRB, PRB1, MOK, S100A8, CXCL12, MIR490
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Polymyositis
Wikipedia
Several factors were associated with lower-than-average risk, including the presence of interstitial lung disease, joint inflammation / joint pain , Raynaud's syndrome , or anti-Jo-1 antibody. [3] The malignancies that are associated are nasopharyngeal cancer , lung cancer , non-Hodgkin's lymphoma and bladder cancer , amongst others. [4] Cardiac involvement manifests itself typically as heart failure, and is present in up to 77% of patients. [2] Interstitial lung disease is found in up to 65% of patients with polymyositis, as defined by HRCT or restrictive ventilatory defects compatible with interstitial lung disease. [5] Causes [ edit ] Polymyositis is an inflammatory myopathy mediated by cytotoxic T cells with an as yet unknown autoantigen , while dermatomyositis is a humorally mediated angiopathy resulting in myositis and a typical dermatitis. [6] The cause of polymyositis is unknown and may involve viruses and autoimmune factors. ... Died from the effects of polymyositis. [11] David Lean , film director. [12] [13] Eric Samuelsen , playwright. [ citation needed ] Victor Manuel Resendiz Ruiz , wrestler. [ citation needed ] See also [ edit ] Limb girdle syndrome References [ edit ] ^ a b Strauss KW, Gonzalez-Buritica H, Khamashta MA, Hughes GR (July 1989). ... External links [ edit ] Classification D ICD - 10 : M33.2 ICD - 9-CM : 710.4 MeSH : D017285 DiseasesDB : 10343 External resources MedlinePlus : 000428 eMedicine : med/3441 emerg/474 Scholia : Q980926 v t e Systemic connective tissue disorders General Systemic lupus erythematosus Drug-induced SLE Libman–Sacks endocarditis Inflammatory myopathy Myositis Dermatopolymyositis Dermatomyositis / Juvenile dermatomyositis Polymyositis * Inclusion body myositis Scleroderma Systemic scleroderma Progressive systemic sclerosis CREST syndrome Overlap syndrome / Mixed connective tissue disease Other hypersensitivity / autoimmune Sjögren syndrome Other Behçet's disease Polymyalgia rheumatica Eosinophilic fasciitis Eosinophilia–myalgia syndrome fibrillin Marfan syndrome Congenital contractural arachnodactylyTNF, IL1B, IL6, IL1A, CYP27B1, HCP5, PTPN22, HLA-DRB1, TLR3, TRBV20OR9-2, DMD, CTLA4, HLA-DQA1, DCTN4, MMP9, DYSF, GTF2H1, TLR7, VEGFA, TLR9, SQSTM1, TLR4, EXOSC10, NT5C1A, KHDRBS1, MB, NUP62, IL17A, SMUG1, BLK, IFNB1, LILRB1, CDR3, IL15, IL2, PLAAT4, TGM2, IL4, IFNA1, ADAM17, RBM45, HMGB1, CCL21, CLEC4C, CD40LG, CD28, FAM167A, SDC1, IFIH1, HLA-B, TRIM33, HLA-C, HARS1, TIA1, NFAT5, BEST1, GNLY, CDK2AP2, OPTN, TNFAIP3, ADAM19, TYK2, TNFRSF1A, CD163, SOCS3, TIMP1, SNURF, TNFRSF1B, UTRN, TP53, CXCR4, ACR, SUB1, FSD1, NECAP2, DEFB103B, SLURP1, IL21, IGAN1, ROBO3, FSD1L, RPP14, NLRP3, GLIS3, MIR21, DEFB103A, MIR381, MIR193B, SF3B6, ISYNA1, CKLF, FOXP3, IL22, IL21R, CD207, DCPS, TGFB1, HPGDS, AGO2, IL1RAPL2, DDX58, CABIN1, HARS2, TARDBP, PUF60, LAMTOR2, CCL2, TERT, IFNA13, ELANE, ERBB3, FABP3, GPT, NR3C1, HGF, HLA-DPB1, IFNG, CNTN2, CCN1, IL2RA, IL3RA, IL6ST, IL15RA, IL18, CXCL10, DNASE1L3, DAG1, CCN2, CRP, AGER, ALOX5, AIRE, CALD1, CAMP, CD80, CD86, CD40, CD68, CDKN2A, CHI3L1, CHIT1, CLCN1, CCR7, CPM, IRF5, ISG20, KARS1, PTPRC, RIT2, S100A9, S100A11, S100B, SCN4A, ACTN3, CCL17, CCL19, CCL22, CXCL12, SMN1, SMN2, FSCN1, SNRPN, SOD1, RIEG2, PTGS2, STMN1, PTGS1, SMAD2, MEFV, MIF, MIP, MMP1, MMP2, MMP7, MYD88, MYH2, NFKB1, NOS2, PMS1, EXOSC9, POMC, PROC, H3P8
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Y Chromosome Infertility
Gene_reviews
Clinical features A history of infertility Normal physical examination in ~30% Small testes in ~70% (males with Sertoli cell-only syndrome) Laboratory features Semen analysis. ... Klinefelter syndrome can be associated with hypoandrogenism and reported reduced intellectual function. ... It has numerous causes including Y deletion, exposure to toxic chemotherapy agents or irradiation, mumps orchitis, Down syndrome, Klinefelter syndrome (47,XXY), congenital adrenal hypoplasia, isolated FSH deficiency, and hyperprolactinemia. ... The definition of Sertoli cell-only (SCO) syndrome has been the subject of confusion in the literature. ... Similarly, in about 60% of males with SCO syndrome a tiny number of tubules actually contain a few spermatozoa resulting from small foci of spermatogenesis.
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Subacromial Bursitis
Wikipedia
PMID 10826138 . ^ a b c Bigliani LU, Levine WN (1997). "Subacromial impingement syndrome" . J Bone Joint Surg Am . 79 (12): 1854–68. doi : 10.2106/00004623-199712000-00012 . ... "Diagnostic accuracy of clinical tests for the different degrees of subacromial impingement syndrome" . J Bone Joint Surg Am . 87 (7): 1446–55. doi : 10.2106/JBJS.D.02335 . ... "Efficacy of injections of corticosteroids for subacromial impingement syndrome" . J Bone Joint Surg Am . 78 (11): 1685–9. doi : 10.2106/00004623-199611000-00007 . ... "Non-operative treatment of subacromial impingement syndrome" . J Bone Joint Surg Am . 79 (5): 732–7. doi : 10.2106/00004623-199705000-00013 . ... "Vascular endothelial growth factor (VEGF) expression in the subacromial bursa is increased in patients with impingement syndrome" . J. Orthop. Res . 19 (3): 448–55. doi : 10.1016/S0736-0266(00)90021-4 .
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Idiopathic Multicentric Castleman Disease
Wikipedia
A lymph node biopsy alone is not sufficient to make the diagnosis. [ citation needed ] Laboratory testing [ edit ] Laboratory testing may demonstrate elevated C-reactive protein , decreased hemoglobin levels ( anemia ), low albumin levels, elevated creatinine , increased immunoglobulin levels, and abnormal (elevated or decreased) platelet counts. [1] Patients may also have elevations of molecules involved in inflammation ( cytokines ), such as Interleukin 6 (IL-6) and vascular endothelial growth factor (VEGF) . [4] Medical imaging [ edit ] Radiologic imaging will demonstrate enlarged lymph nodes in multiple regions, which are typically 18F-fluorodoxyglucose (FDG) avid on positron-emission tomography (PET) . [5] Associated diseases [ edit ] iMCD is commonly seen in patients with POEMS syndrome , but it is unclear if iMCD occurs as an independent disease process or a manifestation of POEMS syndrome in these patients. [5] Patients with iMCD have increased risk for solid tumors and cancers of the blood. [1] Occasionally, patients with iMCD present with lymphocytic interstitial pneumonitis . [5] TAFRO Syndrome [ edit ] iMCD patients with t hrombocytopenia, a nasarca, myelo f ibrosis, r enal dysfunction, and o rganomegaly syndrome (TAFRO syndrome) are considered to have a distinct clinical subtype of iMCD. ... Compared to iMCD patients without TAFRO syndrome, iMCD patients with TAFRO syndrome are more likely to present with severe abdominal pain, low platelet levels, progressive renal dysfunction , and normal to mildly elevated immunoglobulin levels. [6] While iMCD with TAFRO syndrome was first described in Japanese patients in 2010, cases of iMCD with TAFRO syndrome have since been reported in non-Japanese patients in many other countries. [5] Classification [ edit ] Castleman disease describes a group of at least 3 distinct disorders— Unicentric Castleman disease (UCD), human herpesvirus 8 associated multicentric Castleman disease (HHV-8-associated MCD), and idiopathic multicentric Castleman disease (iMCD) . ... Idiopathic multicentric Castleman disease [ edit ] iMCD may be further differentiated by the presence of associated diseases, such as p olyneuropathy, o rganomegaly, e ndocrinopathy, m onoclonal protein, s kin changes syndrome (POEMS syndrome), or by distinct clinical features, such as t hrombocytopenia, a nasarca, myelo f ibrosis, r enal dysfunction, and o rganomegaly syndrome (TAFRO syndrome). [5] Diagnostic criteria [ edit ] Diagnosis of iMCD requires: the presence of both major criteria, multiple regions of enlarged lymph nodes as demonstrated by medical imaging; the presence of at least two minor criteria, at least one of which must be an abnormal laboratory test; and exclusion of diseases that can mimic iMCD. [ citation needed ] Major criteria 1: multiple regions of enlarged lymph nodes [ edit ] Radiologic imaging must demonstrate enlarged lymph nodes in multiple regions. [5] Major criteria 2: microscopic analysis of lymph node biopsy consistent with iMCD [ edit ] The microscopic appearance (histology) of biopsied tissue from an enlarged lymph node must demonstrate a constellation of features consistent with Castleman disease. ... Patients with life-threatening disease, particularly those with TAFRO Syndrome, may require advanced measures such as breathing support with a mechanical ventilator or treatment with dialysis for kidney failure. [ citation needed ] Following improvement in disease status, maintenance therapy with an anti-IL-6 agent or an immunosuppressant medication is typically continued indefinitely, as withdrawal of such medications can lead to relapse. [ citation needed ] Follow-up [ edit ] Patients with iMCD require routine assessment of treatment response and disease progression. ... "Clinicopathologic analysis of TAFRO syndrome demonstrates a distinct subtype of HHV-8-negative multicentric Castleman disease" .
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False Pregnancy
Wikipedia
False pregnancy Other names Phantom pregnancy, hysterical pregnancy, pseudocyesis, delusional pregnancy Specialty Psychiatry False pregnancy (or pseudocyesis , from the Greek pseudes "false" and kyesis "pregnancy" [1] ) is the appearance of clinical or subclinical signs and symptoms associated with pregnancy although the individual is not physically carrying a baby. [2] The false belief that one is pregnant includes signs and symptoms such as tender breasts with secretions, abdominal growth, delayed menstrual periods , and subjective feelings of a moving fetus. [2] Examination , ultrasound , and pregnancy tests can be used to rule out false pregnancy. [1] False pregnancy has a prominent psychiatric component as well as physical manifestations of pregnancy . [2] It can be caused by trauma (either physical or mental), a chemical imbalance of hormones, [2] [3] and some medical conditions. [1] Contributing psychological factors include a strong desire for pregnancy or misinterpretation of objective bodily sensations. [2] [3] Although rare, [1] men can experience false pregnancy symptoms, [2] called Couvade syndrome or "sympathetic pregnancy", which can occur when their significant other is pregnant and dealing with pregnancy symptoms. [3] Psychotherapy , pharmacotherapy with antidepressants or antipsychotics , hormonal therapy , and uterine curettage are sometimes needed as treatment. [1] While extremely rare in the United States because of the frequent use of medical imaging , in developing regions such as India and sub-Saharan Africa, the incidence of false pregnancy is higher. [2] [3] Rural areas see more instances of false pregnancy because such women are less often examined by a health care professional or midwife during the duration of believed pregnancy. [2] Contents 1 Classification 2 Signs and symptoms 3 Causes and mechanism 3.1 Risk factors 4 Diagnosis 4.1 Differential 5 Management 6 Epidemiology 7 History 8 Society and culture 9 See also 10 References Classification [ edit ] In the Diagnostic and Statistical Manual of Mental Disorders ( DSM-5 ), false pregnancy is a somatic symptom disorder ; it is listed as "not elsewhere classified", meaning it is in a category by itself, different from other somatic symptom disorders such as functional neurological symptom disorder (formerly known as conversion disorders ). [2] The word pseudocyesis comes from the Greek words pseudes which means "false" and kyesis which means "pregnancy". [1] False pregnancy is sometimes referred to as "delusional pregnancy", but the distinction between the two conditions is inexact. [3] Delusional pregnancy is typically used when there are no physical signs of pregnancy, but false pregnancy can also be delusional. [4] [5] Some authors consider the two conditions can be used interchangeably for research purposes. [3] [5] Signs and symptoms [ edit ] The symptoms of pseudocyesis are similar to the symptoms of a true pregnancy. [1] Signs of false pregnancy include amenorrhea (missed periods), galactorrhea (flow of milk from breast), breast enlargement, weight gain, abdominal growth, sensations of fetal movement and contractions, [1] nausea and vomiting, [1] changes in the uterus and cervix , [1] and frequent urination. [3] Abdominal distention is the most common symptom. [2] In pseudocyetic abdominal swellings, the abdomen becomes uniformly swollen, and the navel stays inverted. ... Societal factors enforce the importance of female fertility in these countries, thus possibly contributing to pseudocyesis rates. [3] In addition to men, mothers of pregnant women may experience Couvade syndrome , and a woman can experience multiple episodes of pseudocyesis in her lifetime. [15] History [ edit ] The perception of false pregnancy has evolved over time. ... "A case of concomitant pseudocyesis and Couvade syndrome variant" . Psychopharmacology Bulletin (Case report). 48 (3): 29–32. ... Classification D ICD - 10 : F45.8 ICD - 9-CM : 300.11 MeSH : D011555 DiseasesDB : 29264 v t e Mental and behavioral disorders Adult personality and behavior Gender dysphoria Ego-dystonic sexual orientation Paraphilia Fetishism Voyeurism Sexual maturation disorder Sexual relationship disorder Other Factitious disorder Munchausen syndrome Intermittent explosive disorder Dermatillomania Kleptomania Pyromania Trichotillomania Personality disorder Childhood and learning Emotional and behavioral ADHD Conduct disorder ODD Emotional and behavioral disorders Separation anxiety disorder Movement disorders Stereotypic Social functioning DAD RAD Selective mutism Speech Stuttering Cluttering Tic disorder Tourette syndrome Intellectual disability X-linked intellectual disability Lujan–Fryns syndrome Psychological development ( developmental disabilities ) Pervasive Specific Mood (affective) Bipolar Bipolar I Bipolar II Bipolar NOS Cyclothymia Depression Atypical depression Dysthymia Major depressive disorder Melancholic depression Seasonal affective disorder Mania Neurological and symptomatic Autism spectrum Autism Asperger syndrome High-functioning autism PDD-NOS Savant syndrome Dementia AIDS dementia complex Alzheimer's disease Creutzfeldt–Jakob disease Frontotemporal dementia Huntington's disease Mild cognitive impairment Parkinson's disease Pick's disease Sundowning Vascular dementia Wandering Other Delirium Organic brain syndrome Post-concussion syndrome Neurotic , stress -related and somatoform Adjustment Adjustment disorder with depressed mood Anxiety Phobia Agoraphobia Social anxiety Social phobia Anthropophobia Specific social phobia Specific phobia Claustrophobia Other Generalized anxiety disorder OCD Panic attack Panic disorder Stress Acute stress reaction PTSD Dissociative Depersonalization disorder Dissociative identity disorder Fugue state Psychogenic amnesia Somatic symptom Body dysmorphic disorder Conversion disorder Ganser syndrome Globus pharyngis Psychogenic non-epileptic seizures False pregnancy Hypochondriasis Mass psychogenic illness Nosophobia Psychogenic pain Somatization disorder Physiological and physical behavior Eating Anorexia nervosa Bulimia nervosa Rumination syndrome Other specified feeding or eating disorder Nonorganic sleep Hypersomnia Insomnia Parasomnia Night terror Nightmare REM sleep behavior disorder Postnatal Postpartum depression Postpartum psychosis Sexual dysfunction Arousal Erectile dysfunction Female sexual arousal disorder Desire Hypersexuality Hypoactive sexual desire disorder Orgasm Anorgasmia Delayed ejaculation Premature ejaculation Sexual anhedonia Pain Nonorganic dyspareunia Nonorganic vaginismus Psychoactive substances, substance abuse and substance-related Drug overdose Intoxication Physical dependence Rebound effect Stimulant psychosis Substance dependence Withdrawal Schizophrenia , schizotypal and delusional Delusional Delusional disorder Folie à deux Psychosis and schizophrenia-like Brief reactive psychosis Schizoaffective disorder Schizophreniform disorder Schizophrenia Childhood schizophrenia Disorganized (hebephrenic) schizophrenia Paranoid schizophrenia Pseudoneurotic schizophrenia Simple-type schizophrenia Other Catatonia Symptoms and uncategorized Impulse control disorder Klüver–Bucy syndrome Psychomotor agitation Stereotypy v t e Pathology of pregnancy , childbirth and the puerperium Pregnancy Pregnancy with abortive outcome Abortion Ectopic pregnancy Abdominal Cervical Interstitial Ovarian Heterotopic Embryo loss Fetal resorption Molar pregnancy Miscarriage Stillbirth Oedema , proteinuria and hypertensive disorders Gestational hypertension Pre-eclampsia HELLP syndrome Eclampsia Other, predominantly related to pregnancy Digestive system Acute fatty liver of pregnancy Gestational diabetes Hepatitis E Hyperemesis gravidarum Intrahepatic cholestasis of pregnancy Integumentary system / dermatoses of pregnancy Gestational pemphigoid Impetigo herpetiformis Intrahepatic cholestasis of pregnancy Linea nigra Prurigo gestationis Pruritic folliculitis of pregnancy Pruritic urticarial papules and plaques of pregnancy (PUPPP) Striae gravidarum Nervous system Chorea gravidarum Blood Gestational thrombocytopenia Pregnancy-induced hypercoagulability Maternal care related to the fetus and amniotic cavity amniotic fluid Oligohydramnios Polyhydramnios Braxton Hicks contractions chorion / amnion Amniotic band syndrome Chorioamnionitis Chorionic hematoma Monoamniotic twins Premature rupture of membranes Obstetrical bleeding Antepartum placenta Circumvallate placenta Monochorionic twins Placenta accreta Placenta praevia Placental abruption Twin-to-twin transfusion syndrome Labor Amniotic fluid embolism Cephalopelvic disproportion Dystocia Shoulder dystocia Fetal distress Locked twins Nuchal cord Obstetrical bleeding Postpartum Pain management during childbirth placenta Placenta accreta Preterm birth Postmature birth Umbilical cord prolapse Uterine inversion Uterine rupture Vasa praevia Puerperal Breastfeeding difficulties Low milk supply Cracked nipples Breast engorgement Childbirth-related posttraumatic stress disorder Diastasis symphysis pubis Postpartum bleeding Peripartum cardiomyopathy Postpartum depression Postpartum psychosis Postpartum thyroiditis Puerperal fever Puerperal mastitis Other Concomitant conditions Diabetes mellitus Systemic lupus erythematosus Thyroid disorders Maternal death Sexual activity during pregnancy Category Authority control GND : 4337195-4
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Myoclonus
Wikipedia
The syndrome has much more severe symptoms ranging from multiple seizures daily, learning disabilities, abnormal findings in electroencephalogram (EEG). ... If it is a symptom of a more complex and disturbing sleep disorders , such as restless legs syndrome , it may require medical treatment. ... People suffering from benign fasciculation syndrome can often experience myoclonic jerking of limbs, fingers and thumbs. ... See also [ edit ] Periodic limb movement disorder Benign fasciculation syndrome Restless legs syndrome Fasciculation Brain Zaps (SSRI withdrawal) Clonus Fahr's syndrome References [ edit ] ^ Lava, Neil. ... Retrieved 1 September 2015 . ^ Lance JW (1986). "Action myoclonus, Ramsay Hunt syndrome, and other cerebellar myoclonic syndromes".MECP2, SGCE, PSEN1, CSTB, PRRT2, PRNP, KCNC1, POLG, SLC2A1, TAF1, KIF5A, ADCY5, APP, NOL3, SNCA, KCNQ2, NEU1, PRKCG, PSEN2, ANO3, ATXN2, SCN1A, SCN2A, SCN8A, FARS2, SLC1A2, NHLRC1, AFG3L2, NKX2-1, STXBP1, TBP, GOSR2, TH, NUP62, CASK, NFASC, PLCB1, DENND5A, CUX2, SZT2, ATP13A2, ABCA7, TRAK1, FRRS1L, CIZ1, SLC6A5, FBXO7, NDUFAF3, PARS2, NECAP1, CHMP2B, KIF1B, CNKSR2, ZNHIT3, TOMM40, GPHN, AP5Z1, MTHFS, STAMBP, DNAJC6, HIBCH, SYNJ1, ST3GAL5, CERS1, CPLX1, PIGQ, LIAS, PLPBP, PIGL, SYNGAP1, PNKP, CTSF, CNPY3, AARS1, BSCL2, TOE1, DHDDS, DNAJC5, CLPB, TRIM8, COG8, PIGO, LMNB2, ATAD1, PIGY, SLC25A46, RFT1, PGAP3, SLC52A3, EFHC1, SLC25A22, NUS1, GLYCTK, SIK1, ARX, C9orf72, PHACTR1, TSEN54, PIGW, SLC13A5, HCN1, SAMD12, SDHAF1, ST20-MTHFS, UBA5, KCTD17, CYFIP2, VPS13D, PGAP2, AP3B2, PSAT1, MECR, TRAPPC12, GLRX5, PIGP, ACTL6B, WWOX, TREM2, CLN6, MTPAP, PNPO, FOXRED1, CARS2, POMGNT1, PIGV, CCDC88A, NGLY1, TWNK, PRDM8, COQ8A, TBC1D24, GUF1, IRF2BPL, ARV1, SLC52A2, TMEM231, PLA2G6, YWHAG, MRE11, NUP214, GNAQ, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2D, HTT, HLA-DQB1, HMGCL, CACNA1E, GNAO1, KCNA1, KCNA2, KCNB1, KCNC3, KCND3, KCNQ3, CACNA1B, CACNA1A, CLN3, SCARB2, GLRB, TRNF, CHD2, CLTC, CTNND2, TPP1, CYP27A1, DAB1, CLCN4, DDC, DNM1, ATN1, EEF1A2, GLRA1, CLN8, FGF12, GABRB2, GABRB3, GABRG2, GAMT, GBA, GCSH, GLDC, ATP6, CLN5, TRNI, QDPR, SCN3A, SDHA, SDHD, ST3GAL3, SLC6A1, SMS, SORL1, SPTAN1, CDKL5, CNTN2, ASAH1, TCF20, AMT, TSPYL1, TYROBP, ADSL, XPA, ADAR, USP7, EPM2A, ADRA2B, TRNK, SC5D, ATM, PPP3CA, TRNL1, TRNP, NAGA, NDUFV1, NEUROD2, NTRK2, SERPINI1, ATP6V1A, PODXL, PIGA, MAPK10, PURA, PPT1, PSAP, PTS, APOE, GCH1, TOR1A, CYP2D6, BRCA2, MFSD8, ZBTB38, PRICKLE1, COL6A4P1, CAMK2A, TMEM240, ATP1A3, AAAS, IL10, CYP2C19, PIK3C2A, PRKRA, UCN, TPO, TCN2, POLR1C, MARCHF6, RASA2, SLC27A4, SETX, CNTNAP2, DCX, MAPT, LY6E, LEP, REM1, ISYNA1, IL6, RMND1, SLC7A10, FLAD1, FAME3