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Sexual Anhedonia
Wikipedia
A spinal cord injury or chronic fatigue syndrome might also occasionally cause this disorder. [2] Age may also be a cause of this disorder. [3] A sudden-onset sexual anhedonia can also be a symptom of sensory neuropathy , which is most commonly the result of pyridoxine toxicity [4] (e.g., from large doses of vitamin B6 supplements). ... "Sensory Neuropathy from Pyridoxine Abuse — A New Megavitamin Syndrome - NEJM". New England Journal of Medicine . 309 (8): 445–448. doi : 10.1056/nejm198308253090801 . ... PMID 18086171 . 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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Persistent Genital Arousal Disorder
Wikipedia
Persistent genital arousal disorder Other names PGAD Specialty Sexology , neurology Persistent genital arousal disorder ( PGAD ), previously called persistent sexual arousal syndrome , [1] is spontaneous, persistent, unwanted and uncontrollable genital arousal in the absence of sexual stimulation or sexual desire , [2] [3] and is typically not relieved by orgasm . [3] [4] Instead, multiple orgasms over hours or days may be required for relief. [4] PGAD occurs in women. [4] [5] It has been compared to priapism in men. [5] [6] PGAD is rare and is not well understood. [2] [4] The literature is inconsistent with the nomenclature. ... In 2009, "persistent genital arousal dysfunction" was included in its third edition. [4] PGAD is not included in the Diagnostic and Statistical Manual of Mental Disorders ( DSM-5 ) or the International Classification of Diseases ( ICD-10 ), which may be due to the disorder requiring further research. [4] The condition has been characterized by a researcher as being a term with no scientific basis. [7] There is concern that the title may be misleading because, since the genital arousal is unwanted, it is dubious to characterize it as arousal. [7] Other researchers have suggested that the disorder be renamed "persistent genital vasocongestion disorder (PGVD)" [8] or "restless genital syndrome (ReGS)." [8] [9] Signs and symptoms [ edit ] Physical arousal caused by PGAD can be very intense and persist for extended periods, days or weeks at a time. [3] [4] Symptoms include pressure, pain, irritation, clitoral tingling, throbbing, vaginal congestion, vaginal contractions, and sometimes spontaneous orgasms. [3] Pressure, discomfort, pounding, pulsating, throbbing or engorgement may include the clitoris, labia , vagina , perineum , or the anus . [10] The symptoms may result from sexual activity or from no identified stimulus, and are not relieved by orgasm except for cases where multiple orgasms over hours or days allow for relief. [4] The symptoms can impede on home or work life. [3] [8] Women may feel embarrassment or shame, and avoid sexual relationships, because of the disorder. [3] [4] Stress can make the symptoms worse. [8] [10] Cause [ edit ] Researchers do not know the cause of PGAD, but assume that it has neurological , vascular , pharmacological , and psychological causes. [1] [4] Tarlov cysts have been speculated as a cause. [3] [10] PGAD has been associated with clitoral priapism , [11] and has been compared to priapism in men. [5] [6] It is also similar to vulvodynia , in that the causes for both are not well understood, both last for a long time, and women with either condition may be told that it is psychological rather than physical. [3] It has been additionally associated with restless legs syndrome (RLS), but a minority of women with PGAD have restless legs syndrome. [8] In some recorded cases, the syndrome was caused by or can cause a pelvic arterial-venous malformation with arterial branches to the clitoris. [10] [12] Surgical treatment was effective in this instance. [12] Diagnosis [ edit ] This section is empty. ... CS1 maint: uses authors parameter ( link ) ^ Stetka, Bret S.; De Aquino, Camila Henriques (March 3, 2015). "What Is Restless Genital Syndrome?" . Medscape . Retrieved February 8, 2018 . ^ a b c d Kevan R. ... CS1 maint: uses authors parameter ( link ) ^ a b Goldstein, Irwin (1 March 2004). "Persistent Sexual Arousal Syndrome" . Boston University Medical Campus Institute for Sexual Medicine . ... G. (2001). "Persistent Sexual Arousal Syndrome: A Newly Discovered Pattern of Female Sexuality".
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Neutrophilic Eccrine Hidradenitis
Wikipedia
NEH has been reported in patients with cancer who have not received any form of chemotherapy (i.e., as a paraneoplastic syndrome ), in patients with HIV and/or AIDS , and after the use of paracetamol (acetaminophen). ... External links [ edit ] Classification D MeSH : D016575 SNOMED CT : 238754005 External resources eMedicine : article/1070937 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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Warty Dyskeratoma
Wikipedia
ISBN 0-7216-2921-0 . v t e Skin cancer of the epidermis Tumor Carcinoma BCC Forms Aberrant Cicatricial Cystic Fibroepithelioma of Pinkus Infltrative Micronodular Nodular Pigmented Polypoid Pore-like Rodent ulcer Superficial Nevoid basal cell carcinoma syndrome SCC Forms Adenoid Basaloid Clear cell Signet-ring-cell Spindle-cell Marjolin's ulcer Bowen's disease Bowenoid papulosis Erythroplasia of Queyrat Actinic keratosis Adenocarcinoma Aggressive digital papillary adenocarcinoma Extramammary Paget's disease Ungrouped Merkel cell carcinoma Microcystic adnexal carcinoma Mucinous carcinoma Primary cutaneous adenoid cystic carcinoma Verrucous carcinoma Malignant mixed tumor Benign tumors Acanthoma Forms Large cell Fissuring Clear cell Epidermolytic Melanoacanthoma Pilar sheath acanthoma Seboacanthoma Seborrheic keratosis Warty dyskeratoma Keratoacanthoma Generalized eruptive Keratoacanthoma centrifugum marginatum Multiple Solitary Wart Verruca vulgaris Verruca plana Plantar wart Periungual wart Other Epidermal nevus Syndromes Epidermal nevus syndrome Schimmelpenning syndrome Nevus comedonicus syndrome Nevus comedonicus Inflammatory linear verrucous epidermal nevus Linear verrucous epidermal nevus Pigmented hairy epidermal nevus syndrome Systematized epidermal nevus Phakomatosis pigmentokeratotica Other nevus Nevus unius lateris Patch blue nevus Unilateral palmoplantar verrucous nevus Zosteriform speckled lentiginous nevus Ungrouped Cutaneous horn v t e Oral and maxillofacial pathology Lips Cheilitis Actinic Angular Plasma cell Cleft lip Congenital lip pit Eclabium Herpes labialis Macrocheilia Microcheilia Nasolabial cyst Sun poisoning Trumpeter's wart Tongue Ankyloglossia Black hairy tongue Caviar tongue Crenated tongue Cunnilingus tongue Fissured tongue Foliate papillitis Glossitis Geographic tongue Median rhomboid glossitis Transient lingual papillitis Glossoptosis Hypoglossia Lingual thyroid Macroglossia Microglossia Rhabdomyoma Palate Bednar's aphthae Cleft palate High-arched palate Palatal cysts of the newborn Inflammatory papillary hyperplasia Stomatitis nicotina Torus palatinus Oral mucosa – Lining of mouth Amalgam tattoo Angina bullosa haemorrhagica Behçet's disease Bohn's nodules Burning mouth syndrome Candidiasis Condyloma acuminatum Darier's disease Epulis fissuratum Erythema multiforme Erythroplakia Fibroma Giant-cell Focal epithelial hyperplasia Fordyce spots Hairy leukoplakia Hand, foot and mouth disease Hereditary benign intraepithelial dyskeratosis Herpangina Herpes zoster Intraoral dental sinus Leukoedema Leukoplakia Lichen planus Linea alba Lupus erythematosus Melanocytic nevus Melanocytic oral lesion Molluscum contagiosum Morsicatio buccarum Oral cancer Benign: Squamous cell papilloma Keratoacanthoma Malignant: Adenosquamous carcinoma Basaloid squamous carcinoma Mucosal melanoma Spindle cell carcinoma Squamous cell carcinoma Verrucous carcinoma Oral florid papillomatosis Oral melanosis Smoker's melanosis Pemphigoid Benign mucous membrane Pemphigus Plasmoacanthoma Stomatitis Aphthous Denture-related Herpetic Smokeless tobacco keratosis Submucous fibrosis Ulceration Riga–Fede disease Verruca vulgaris Verruciform xanthoma White sponge nevus Teeth ( pulp , dentin , enamel ) Amelogenesis imperfecta Ankylosis Anodontia Caries Early childhood caries Concrescence Failure of eruption of teeth Dens evaginatus Talon cusp Dentin dysplasia Dentin hypersensitivity Dentinogenesis imperfecta Dilaceration Discoloration Ectopic enamel Enamel hypocalcification Enamel hypoplasia Turner's hypoplasia Enamel pearl Fluorosis Fusion Gemination Hyperdontia Hypodontia Maxillary lateral incisor agenesis Impaction Wisdom tooth impaction Macrodontia Meth mouth Microdontia Odontogenic tumors Keratocystic odontogenic tumour Odontoma Dens in dente Open contact Premature eruption Neonatal teeth Pulp calcification Pulp stone Pulp canal obliteration Pulp necrosis Pulp polyp Pulpitis Regional odontodysplasia Resorption Shovel-shaped incisors Supernumerary root Taurodontism Trauma Avulsion Cracked tooth syndrome Vertical root fracture Occlusal Tooth loss Edentulism Tooth wear Abrasion Abfraction Acid erosion Attrition Periodontium ( gingiva , periodontal ligament , cementum , alveolus ) – Gums and tooth-supporting structures Cementicle Cementoblastoma Gigantiform Cementoma Eruption cyst Epulis Pyogenic granuloma Congenital epulis Gingival enlargement Gingival cyst of the adult Gingival cyst of the newborn Gingivitis Desquamative Granulomatous Plasma cell Hereditary gingival fibromatosis Hypercementosis Hypocementosis Linear gingival erythema Necrotizing periodontal diseases Acute necrotizing ulcerative gingivitis Pericoronitis Peri-implantitis Periodontal abscess Periodontal trauma Periodontitis Aggressive As a manifestation of systemic disease Chronic Perio-endo lesion Teething Periapical, mandibular and maxillary hard tissues – Bones of jaws Agnathia Alveolar osteitis Buccal exostosis Cherubism Idiopathic osteosclerosis Mandibular fracture Microgenia Micrognathia Intraosseous cysts Odontogenic : periapical Dentigerous Buccal bifurcation Lateral periodontal Globulomaxillary Calcifying odontogenic Glandular odontogenic Non-odontogenic: Nasopalatine duct Median mandibular Median palatal Traumatic bone Osteoma Osteomyelitis Osteonecrosis Bisphosphonate-associated Neuralgia-inducing cavitational osteonecrosis Osteoradionecrosis Osteoporotic bone marrow defect Paget's disease of bone Periapical abscess Phoenix abscess Periapical periodontitis Stafne defect Torus mandibularis Temporomandibular joints , muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities Bruxism Condylar resorption Mandibular dislocation Malocclusion Crossbite Open bite Overbite Overeruption Overjet Prognathia Retrognathia Scissor bite Maxillary hypoplasia Temporomandibular joint dysfunction Salivary glands Benign lymphoepithelial lesion Ectopic salivary gland tissue Frey's syndrome HIV salivary gland disease Necrotizing sialometaplasia Mucocele Ranula Pneumoparotitis Salivary duct stricture Salivary gland aplasia Salivary gland atresia Salivary gland diverticulum Salivary gland fistula Salivary gland hyperplasia Salivary gland hypoplasia Salivary gland neoplasms Benign: Basal cell adenoma Canalicular adenoma Ductal papilloma Monomorphic adenoma Myoepithelioma Oncocytoma Papillary cystadenoma lymphomatosum Pleomorphic adenoma Sebaceous adenoma Malignant: Acinic cell carcinoma Adenocarcinoma Adenoid cystic carcinoma Carcinoma ex pleomorphic adenoma Lymphoma Mucoepidermoid carcinoma Sclerosing polycystic adenosis Sialadenitis Parotitis Chronic sclerosing sialadenitis Sialectasis Sialocele Sialodochitis Sialosis Sialolithiasis Sjögren's syndrome Orofacial soft tissues – Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia Melkersson–Rosenthal syndrome Microstomia Noma Oral Crohn's disease Orofacial granulomatosis Perioral dermatitis Pyostomatitis vegetans Other Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic disease This Epidermal nevi, neoplasms, cysts article is a stub .
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Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome
Medlineplus
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. ... Learn more about the gene associated with Blepharophimosis, ptosis, and epicanthus inversus syndrome FOXL2 Inheritance Pattern This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
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Chromosome 2q31.2 Deletion Syndrome
Omim
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome. Clinical Features Mencarelli et al. (2007) reported a 14-year-old boy with severe mental retardation, absence of speech, sleep disturbances, behavioral problems, and some dysmorphic features. ... Prontera et al. (2009) reported a 36-year-old man with a syndromic disorder associated with a de novo heterozygous 13.7-Mb deletion at chromosome 2q31.2-q32.3.
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Isolated Anorectal Malformation
Orphanet
Differential diagnosis ARM can occur in association with multisystem syndromes, such as Townes-Brocks syndrome, Currarino syndrome, Pallister-Hall syndrome, and Down syndrome (see these terms).GLI3, CDX1, MNX1, EDNRB, INTU, HHIP, CCNQ, FAM110B, MED12, FNBP1, EAF1, PROK1, DESI2, NLGN1, SIL1, AMOTL1, SGCD, SOX4, STIM1, TLR1, TTC7A, ZIC3, CASK, SOX6, TBC1D4, RCSD1, MYCN, MPRIP, RFX6, CDH18, CDK8, DKK4, CTNND2, WDPCP, TNNI3K, JAK2, ECSIT, FANCB, FOXF1, LCA5, TTLL9, BMP4, FGFR2, SHH, HOXD13, HOXA13, DKC1, NOP10, CHN1, NHP2, WRAP53, TERT, CTC1, TERC, TINF2, PARN, COL25A1, USB1, RTEL1, MAFB, GLI2, WIF1, BCL2, PIGV, WNT3A, CTNNB1, RARA, NUFIP2, EBF2, MYH14, ARMC9, FREM1, LHFPL5, MIR125B2, MIR92A2, MIR99A, CDC45, FOXD3, KIT, P2RY2, NEUROD2, MYC, MTHFR, MSX2, SMAD1, GLI1, PDGFRA, FOXD4, FGF10, FGF9, ENO2, ELAVL4, EFNB2, PCSK5, PTCH1, RPL13A, MKKS, UBR4, DKK1, CKAP4, AKR1A1, TBX4, TP63, UVRAG, RET, TP53, S100B, S100A1, RPS18, RPLP1, RPE65, MIR342
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Infant Botulism
Orphanet
The onset is subacute to acute and the disease may progress to generalized hypotonia (``floppy babies'') and respiratory failure. Cases of sudden infant death syndrome (SIDS) have been related to infant botulism. ... Differential diagnosis Differential diagnosis includes sepsis, dehydration, electrolyte imbalance, intoxication and encephalitis; it also includes metabolic disorders, myopathies, Guillain-Barré syndrome (Miller-Fisher syndrome), infantile spinal muscular atrophy (SMA1), congenital myasthenic syndromes and poliomyelitis (see these terms). ... Complications include respiratory arrest with resultant hypoxic encephalopathy and irreversible brain damage or death, cardiac arrest, inappropriate antidiuretic hormone secretion syndrome with hyponatremia, serum hyposmolality and urinary hyperosmolality, and acute otitis media related to Eustachian tube dysfunction.
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Paroxysmal Dyskinesia
Orphanet
PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms). Epidemiology The prevalence of PD is still unknown. ... Infantile convulsion and choreoathetosis (ICCA syndrome) is considered a variant form of PKD. ... A number of genes have been associated with different forms of PD, namely: PNKD (2q35) mutations have been found to cause PNKD in families whose attacks can be triggered by caffeine and alcohol, PRRT2 (16p11.2) mutations account for some families with PKD or ICCA syndrome, and SLC2A1 (solute carrier family 2 (facilitated glucose transporter), member 1) (1p34.2 ) mutations have been identified to cause PED. ... Differential diagnosis PD can occur secondary to other disorders such as multiple sclerosis, Aicardi-Goutières syndrome (see these terms), myelopathy, cerebral palsy, cerebral infarcts and hemorrhages, focal seizures, encephalitis, radiculopathy, hypoparathyroidism, hypoglycemia and reflex sympathetic dystrophy. Antenatal diagnosis Prenatal diagnosis for pregnancies at increased risk for PRRT2 , PNKD , and SLC2A1 mutations associated with familial PKD or ICCA syndrome, PNKD, and PED respectively is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis (usually performed at 15-18 weeks' gestation) or chorionic villus sampling (usually performed at 10-12 weeks' gestation).
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Oculocutaneous Albinism Type 3
Orphanet
Differential diagnosis Differential diagnoses include the milder forms of OCA (except for OCA1A), as well as syndromes with albinism as a feature such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg syndrome type II.
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Villonodular Synovitis
Wikipedia
PMID 18794322 . v t e Diseases of joints General Arthritis Monoarthritis Oligoarthritis Polyarthritis Symptoms Joint pain Joint stiffness Inflammatory Infectious Septic arthritis Tuberculosis arthritis Crystal Chondrocalcinosis CPPD (Psudogout) Gout Seronegative Reactive arthritis Psoriatic arthritis Ankylosing spondylitis Other Juvenile idiopathic arthritis Rheumatoid arthritis Felty's syndrome Palindromic rheumatism Adult-onset Still's disease Noninflammatory Hemarthrosis Osteoarthritis Heberden's node Bouchard's nodes Osteophyte v t e Soft tissue disorders Capsular joint Synoviopathy Synovitis / Tenosynovitis Calcific tendinitis Stenosing tenosynovitis Trigger finger De Quervain syndrome Transient synovitis Ganglion cyst osteochondromatosis Synovial osteochondromatosis Plica syndrome villonodular synovitis Giant-cell tumor of the tendon sheath Bursopathy Bursitis Olecranon Prepatellar Trochanteric Subacromial Achilles Retrocalcaneal Ischial Iliopsoas Synovial cyst Baker's cyst Calcific bursitis Noncapsular joint Symptoms Ligamentous laxity Hypermobility Enthesopathy / Enthesitis / Tendinopathy upper limb Adhesive capsulitis of shoulder Impingement syndrome Rotator cuff tear Golfer's elbow Tennis elbow lower limb Iliotibial band syndrome Patellar tendinitis Achilles tendinitis Calcaneal spur Metatarsalgia Bone spur other/general: Tendinitis / Tendinosis Nonjoint Fasciopathy Fasciitis : Plantar Nodular Necrotizing Eosinophilic Fibromatosis / contracture Dupuytren's contracture Plantar fibromatosis Aggressive fibromatosis Knuckle pads This article about a disease of musculoskeletal and connective tissue is a stub .
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Coronary Steal
Wikipedia
Coronary steal (with its symptoms termed coronary steal syndrome or cardiac steal syndrome ) is a phenomenon where an alteration of circulation patterns leads to a reduction in the blood flow directed to the coronary circulation . [1] It is caused when there is narrowing of the coronary arteries and a coronary vasodilator [2] is used – "stealing" blood away from those parts of the heart. ... Hence, dipyridamole is a pharmacological success diagnostically, but a therapeutic failure because of the coronary steal phenomenon. [3] Coronary steal is also the mechanism in most drug-based cardiac stress tests ; When a patient is incapable of doing physical activity they are given a vasodilator that produces a "cardiac steal syndrome" as a diagnostic procedure. The test result is positive if the patient's symptoms reappear or if ECG alterations are seen. ... It has been associated with nitroprusside . [4] Other causes [ edit ] Coronary arteriovenous fistula between coronary artery and another cardiac chamber, like, the coronary sinus, right atrium, or right ventricle may cause steal syndrome under conditions like myocardial infarction and possible angina or ventricular arrhythmias, if the shunt is large in magnitude. [5] It can also be associated with new patterns of blood vessel growth. [6] Diagnosis [ edit ] This section is empty. You can help by adding to it . ( October 2017 ) Treatment [ edit ] It is sometimes treated by surgery. [7] See also [ edit ] Subclavian steal syndrome Vascular resistance Arteriolar vasodilator References [ edit ] ^ Gould KL (August 1989).
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Streptococcal Toxic-Shock Syndrome
Orphanet
Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection. ... Other serious manifestations include confusion, shock, renal dysfunction, acute respiratory distress syndrome (ARDS; see this term) and coma.
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Orofaciodigital Syndrome Xvii
Omim
A number sign (#) is used with this entry because of evidence that orofaciodigital syndrome XVII (OFD17) is caused by homozygous mutation in the INTU gene (610621) on chromosome 4q28. ... The authors noted that Y-shaped metacarpal is a characteristic feature of OFD6 (277170), whereas the face and hand abnormalities in the 2 children were suggestive of Mohr syndrome (OFD2; 252100). Inheritance The transmission pattern of OFD in the family reported by Toriyama et al. (2016) was consistent with autosomal recessive inheritance.
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Enthesopathy
Wikipedia
Further examples include: [ citation needed ] Adhesive capsulitis of shoulder Rotator cuff syndrome of shoulder and allied disorders Periarthritis of shoulder Scapulohumeral fibrositis Synovitis of hand or wrist Periarthritis of wrist Gluteal tendinitis Iliac crest spur Psoas tendinitis Trochanteric tendinitis Diagnosis [ edit ] Mainly by clinical examination and provocative tests by counter acting the muscle action. [ citation needed ] Treatment [ edit ] Experts state that the mainstay of treatment is basically passive stretching augmented with analgesics during acute attacks. ... Extracorporeal Shockwave therapy is also a conservative treatment that is often used before more invasive injections. [ citation needed ] References [ edit ] ^ " enthesopathy " at Dorland's Medical Dictionary External links [ edit ] Classification D ICD - 10 : M76 - M77.9 ICD - 9-CM : 726 MeSH : D012216 DiseasesDB : 18256 SNOMED CT : 23680005 v t e Soft tissue disorders Capsular joint Synoviopathy Synovitis / Tenosynovitis Calcific tendinitis Stenosing tenosynovitis Trigger finger De Quervain syndrome Transient synovitis Ganglion cyst osteochondromatosis Synovial osteochondromatosis Plica syndrome villonodular synovitis Giant-cell tumor of the tendon sheath Bursopathy Bursitis Olecranon Prepatellar Trochanteric Subacromial Achilles Retrocalcaneal Ischial Iliopsoas Synovial cyst Baker's cyst Calcific bursitis Noncapsular joint Symptoms Ligamentous laxity Hypermobility Enthesopathy / Enthesitis / Tendinopathy upper limb Adhesive capsulitis of shoulder Impingement syndrome Rotator cuff tear Golfer's elbow Tennis elbow lower limb Iliotibial band syndrome Patellar tendinitis Achilles tendinitis Calcaneal spur Metatarsalgia Bone spur other/general: Tendinitis / Tendinosis Nonjoint Fasciopathy Fasciitis : Plantar Nodular Necrotizing Eosinophilic Fibromatosis / contracture Dupuytren's contracture Plantar fibromatosis Aggressive fibromatosis Knuckle pads This article about a disease of musculoskeletal and connective tissue is a stub .
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Corticosteroid-Induced Lipodystrophy
Wikipedia
Corticosteroid-induced lipodystrophy Specialty Dermatology Corticosteroid-induced lipodystrophy ( CIL ) is a condition of abnormal fat deposition caused by corticosteroid medications. [1] Fat accumulates in the facial area (" moon face "), dorsocervical region ("buffalo hump"), and abdominal area ("pot belly" or "beer belly"), whereas the thickness of subcutaneous fat in the limbs is decreased. [1] The resulting appearance has been described as "Cushingoid", [1] in relation to the fact that it also occurs in individuals with Cushing's syndrome (abnormally high cortisol levels). [2] The condition is considered by patients to be the most distressing side effect caused by corticosteroids. [1] Short-term therapy (<3 months) with 10 to 30 mg/day of a prednisone equivalent has been reported to be associated with Cushingoid traits in 15 to 40%. [1] Long-term therapy (>3 months) with corticosteroids has been associated with Cushingoid features in 32 to 83% of individuals. [1] However, these symptoms have mostly been diagnosed in a subjective and observer-dependent manner. [1] In a prospective study, the cumulative incidence of CIL with high-dose prednisone therapy was found to be 61% after 3 months, 65% after 6 months, 68% after 9 months, and 69% after 12 months. [1] One study found that even a very low dosage of prednisone of 5 mg/day was associated with symptoms of "Cushing's syndrome". [1] It has been said that data on risk factors for CIL, such as corticosteroid dosage or duration of therapy, is surprisingly sparse. [1] Possible risk factors for CIL include high residual cortisol secretion, decreased clearance of corticosteroids, female sex, younger age (<50 years), high initial body-mass index , and high caloric intake . [1] CIL has been found to be usually reversible at prednisone-equivalent dosages of less than 10 mg/day. [1] A low-calorie diet may be considered to limit the risk of CIL or to attempt to reverse it. [1] CIL is not merely an aesthetic adverse effect, as it has been associated with features of metabolic syndrome such as insulin resistance , dyslipidemia , and high blood pressure . [1] See also [ edit ] Steroid dementia syndrome Steroid diabetes Steroid-induced osteoporosis Steroid induced skin atrophy References [ edit ] ^ a b c d e f g h i j k l m n Fardet L, Kassar A, Cabane J, Flahault A (2007). ... PMID 17867724 . ^ Pivonello R, Isidori AM, De Martino MC, Newell-Price J, Biller BM, Colao A (July 2016). "Complications of Cushing's syndrome: state of the art" (PDF) . Lancet Diabetes Endocrinol . 4 (7): 611–29. doi : 10.1016/S2213-8587(16)00086-3 .
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Metabolic Bone Disease
Wikipedia
Hypercorticism may also be a causal factor, as osteoporosis may be seen as a feature of Cushing's syndrome . References [ edit ] External links [ edit ] Classification D MeSH : D001851 v t e Bone and joint disease Bone Inflammation endocrine : Osteitis fibrosa cystica Brown tumor infection : Osteomyelitis Sequestrum Involucrum Sesamoiditis Brodie abscess Periostitis Vertebral osteomyelitis Metabolic Bone density Osteoporosis Juvenile Osteopenia Osteomalacia Paget's disease of bone Hypophosphatasia Bone resorption Osteolysis Hajdu–Cheney syndrome Ainhum Gorham's disease Other Ischaemia Avascular necrosis Osteonecrosis of the jaw Complex regional pain syndrome Hypertrophic pulmonary osteoarthropathy Nonossifying fibroma Pseudarthrosis Stress fracture Fibrous dysplasia Monostotic Polyostotic Skeletal fluorosis bone cyst Aneurysmal bone cyst Hyperostosis Infantile cortical hyperostosis Osteosclerosis Melorheostosis Pycnodysostosis Joint Chondritis Relapsing polychondritis Other Tietze's syndrome Combined Osteochondritis Osteochondritis dissecans Child leg: hip Legg–Calvé–Perthes syndrome tibia Osgood–Schlatter disease Blount's disease foot Köhler disease Sever's disease spine Scheuermann's_disease arm: wrist Kienböck's disease elbow Panner diseaseIGF1, ALPL, ESR1, KCNMA1, SLC20A1, GC, MMP2, ANKRD11, DHCR7, CYP27A1, CTC1, CYP2R1, PHOSPHO1, LRP2, DKK1, IGF1R, SOST, GLB1, PTH, ADCY10, SLIT3, MAGEC3, TNFRSF11B, HCAR2, IL6, MUC1, GREM1, SLIT2, TRAF4, POSTN, GCLC, KDM4B, SAMD4A, KDM6B, SETD2, BECN1, GALNS, ETFA, ADIPOR1, DMD, CST3, COL1A1, CA2, BCL2, TNFRSF11A, FGF23, LEP, BEST1, PCK2, SERPINF1, PHEX, PIK3CA, PIK3CB, PIK3CD, PIK3CG, B2M, PRKAA2, PRKAB1, MAPK8, LBP, HSP90AA1, TNF, UCN, UGCG, VEGFA, PRKAA1
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Radicular Pain
Wikipedia
Friday, 20 January 2017 External links [ edit ] Classification D ICD - 10 : M54.1 ICD - 9-CM : 729.2 MeSH : D011843 DiseasesDB : 29521 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 Soft tissue disorders Capsular joint Synoviopathy Synovitis / Tenosynovitis Calcific tendinitis Stenosing tenosynovitis Trigger finger De Quervain syndrome Transient synovitis Ganglion cyst osteochondromatosis Synovial osteochondromatosis Plica syndrome villonodular synovitis Giant-cell tumor of the tendon sheath Bursopathy Bursitis Olecranon Prepatellar Trochanteric Subacromial Achilles Retrocalcaneal Ischial Iliopsoas Synovial cyst Baker's cyst Calcific bursitis Noncapsular joint Symptoms Ligamentous laxity Hypermobility Enthesopathy / Enthesitis / Tendinopathy upper limb Adhesive capsulitis of shoulder Impingement syndrome Rotator cuff tear Golfer's elbow Tennis elbow lower limb Iliotibial band syndrome Patellar tendinitis Achilles tendinitis Calcaneal spur Metatarsalgia Bone spur other/general: Tendinitis / Tendinosis Nonjoint Fasciopathy Fasciitis : Plantar Nodular Necrotizing Eosinophilic Fibromatosis / contracture Dupuytren's contracture Plantar fibromatosis Aggressive fibromatosis Knuckle pads
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Hereditary Paraganglioma-Pheochromocytoma Syndromes
Gene_reviews
Genetic counseling. The hereditary PGL/PCC syndromes are inherited in an autosomal dominant manner. ... Individuals with hereditary PGL/PCC syndromes should be evaluated by imaging for tumor localization. ... Most GISTs associated with hereditary PGL/PCC syndromes occur in the stomach and are often multifocal (>40%). ... Nomenclature The hereditary PGL/PCC syndromes were initially referred to as the hereditary paraganglioma syndromes prior to the discovery of their association with pheochromocytomas. ... Differential Diagnosis The differential diagnosis of hereditary PGL/PCC syndromes includes sporadic PCC and PGL or other syndromes that predispose to PCC or PGL development.
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Amaurosis Fugax
Wikipedia
However, it is also not uncommon for these patients to have no other symptoms. [18] One comprehensive review found a two to nineteen percent incidence of amaurosis fugax among these patients. [19] Systemic lupus erythematosus [20] [21] Periarteritis nodosa [22] Eosinophilic vasculitis [23] Hyperviscosity syndrome [24] Polycythemia [25] Hypercoagulability [26] Protein C deficiency [27] Antiphospholipid antibodies [28] Anticardiolipin antibodies [29] Lupus anticoagulant [30] [31] Thrombocytosis [29] Subclavian steal syndrome Malignant hypertension can cause ischemia of the optic nerve head leading to transient monocular visual loss. [32] Drug abuse-related intravascular emboli [8] Iatrogenic : Amaurosis fugax can present as a complication following carotid endarterectomy , carotid angiography , cardiac catheterization , and cardiac bypass . [29] Ocular origin [ edit ] Ocular causes include: Iritis [33] Keratitis [24] Blepharitis [24] Optic disc drusen [29] Posterior vitreous detachment [24] Closed-angle glaucoma [34] Transient elevation of intraocular pressure [8] [33] Intraocular hemorrhage [8] Coloboma [29] Myopia [29] Orbital hemangioma [35] Orbital osteoma [36] Keratoconjunctivitis sicca [29] testing Neurologic origin [ edit ] Neurological causes include: Optic neuritis [8] Compressive optic neuropathies [8] [29] Papilledema : "The underlying mechanism for visual obscurations in all of these patients appear to be transient ischemia of the optic nerve head consequent to increased tissue pressure. ... If the full diagnostic workup is completely normal, patient observation is recommended. [8] See also [ edit ] Ocular ischemic syndrome Amaurosis Hemianopsia References [ edit ] ^ a b Benavente O, Eliasziw M, Streifler JY, Fox AJ, Barnett HJ, Meldrum H (October 2001). ... "Transient visual symptoms in systemic lupus erythematosus and antiphospholipid syndrome". Ocul. Immunol. Inflamm . 9 (1): 49–57. doi : 10.1076/ocii.9.1.49.3980 . ... "Eosinophilic vasculitis leading to amaurosis fugax in a patient with acquired immunodeficiency syndrome". Arch. Intern. Med . 146 (10): 2059–60. doi : 10.1001/archinte.146.10.2059 . ... External links [ edit ] Classification D ICD - 10 : G45.3 ICD - 9-CM : 362.34 MeSH : D020757 DiseasesDB : 501 External resources MedlinePlus : 000784 eMedicine : neuro/480 v t e Diseases of the human eye Adnexa Eyelid Inflammation Stye Chalazion Blepharitis Entropion Ectropion Lagophthalmos Blepharochalasis Ptosis Blepharophimosis Xanthelasma Ankyloblepharon Eyelash Trichiasis Madarosis Lacrimal apparatus Dacryoadenitis Epiphora Dacryocystitis Xerophthalmia Orbit Exophthalmos Enophthalmos Orbital cellulitis Orbital lymphoma Periorbital cellulitis Conjunctiva Conjunctivitis allergic Pterygium Pseudopterygium Pinguecula Subconjunctival hemorrhage Globe Fibrous tunic Sclera Scleritis Episcleritis Cornea Keratitis herpetic acanthamoebic fungal Exposure Photokeratitis Corneal ulcer Thygeson's superficial punctate keratopathy Corneal dystrophy Fuchs' Meesmann Corneal ectasia Keratoconus Pellucid marginal degeneration Keratoglobus Terrien's marginal degeneration Post-LASIK ectasia Keratoconjunctivitis sicca Corneal opacity Corneal neovascularization Kayser–Fleischer ring Haab's striae Arcus senilis Band keratopathy Vascular tunic Iris Ciliary body Uveitis Intermediate uveitis Hyphema Rubeosis iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Lens Cataract Congenital cataract Childhood cataract Aphakia Ectopia lentis Retina Retinitis Chorioretinitis Cytomegalovirus retinitis Retinal detachment Retinoschisis Ocular ischemic syndrome / Central retinal vein occlusion Central retinal artery occlusion Branch retinal artery occlusion Retinopathy diabetic hypertensive Purtscher's of prematurity Bietti's crystalline dystrophy Coats' disease Sickle cell Macular degeneration Retinitis pigmentosa Retinal haemorrhage Central serous retinopathy Macular edema Epiretinal membrane (Macular pucker) Vitelliform macular dystrophy Leber's congenital amaurosis Birdshot chorioretinopathy Other Glaucoma / Ocular hypertension / Primary juvenile glaucoma Floater Leber's hereditary optic neuropathy Red eye Globe rupture Keratomycosis Phthisis bulbi Persistent fetal vasculature / Persistent hyperplastic primary vitreous Persistent tunica vasculosa lentis Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc Optic neuritis optic papillitis Papilledema Foster Kennedy syndrome Optic atrophy Optic disc drusen Optic neuropathy Ischemic anterior (AION) posterior (PION) Kjer's Leber's hereditary Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns–Sayre syndrome palsies Oculomotor (III) Fourth-nerve (IV) Sixth-nerve (VI) Other strabismus Esotropia / Exotropia Hypertropia Heterophoria Esophoria Exophoria Cyclotropia Brown's syndrome Duane syndrome Other binocular Conjugate gaze palsy Convergence insufficiency Internuclear ophthalmoplegia One and a half syndrome Refraction Refractive error Hyperopia Myopia Astigmatism Anisometropia / Aniseikonia Presbyopia Vision disorders Blindness Amblyopia Leber's congenital amaurosis Diplopia Scotoma Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Anopsia Hemianopsia binasal bitemporal homonymous Quadrantanopia subjective Asthenopia Hemeralopia Photophobia Scintillating scotoma Pupil Anisocoria Argyll Robertson pupil Marcus Gunn pupil Adie syndrome Miosis Mydriasis Cycloplegia Parinaud's syndrome Other Nystagmus Childhood blindness Infections Trachoma Onchocerciasis v t e Cerebrovascular diseases including stroke Ischaemic stroke Brain Anterior cerebral artery syndrome Middle cerebral artery syndrome Posterior cerebral artery syndrome Amaurosis fugax Moyamoya disease Dejerine–Roussy syndrome Watershed stroke Lacunar stroke Brain stem Brainstem stroke syndrome Medulla Medial medullary syndrome Lateral medullary syndrome Pons Medial pontine syndrome / Foville's Lateral pontine syndrome / Millard-Gubler Midbrain Weber's syndrome Benedikt syndrome Claude's syndrome Cerebellum Cerebellar stroke syndrome Extracranial arteries Carotid artery stenosis precerebral Anterior spinal artery syndrome Vertebrobasilar insufficiency Subclavian steal syndrome Classification Brain ischemia Cerebral infarction Classification Transient ischemic attack Total anterior circulation infarct Partial anterior circulation infarct Other CADASIL Binswanger's disease Transient global amnesia Haemorrhagic stroke Extra-axial Epidural Subdural Subarachnoid Cerebral/Intra-axial Intraventricular Brainstem Duret haemorrhages General Intracranial hemorrhage Aneurysm Intracranial aneurysm Charcot–Bouchard aneurysm Other Cerebral vasculitis Cerebral venous sinus thrombosisJAK2, ADRA2B, CNTN2, TRNQ, TRNS1, TRNS2, TRNW, NOTCH3, PIK3CA, PMS1, PMS2, RPS20, MLX, TRNH, TGFBR2, TP53, SH2B3, FAN1, PTPN22, MLH3, ADA2, TET2, SEMA4A, TRNL1, TRNF, BMPR1A, ND6, CALR, CTNND2, MSH6, HLA-B, IL12B, KRAS, EPCAM, MLH1, MPL, MSH2, COX1, COX2, COX3, ND1, ND4, ND5, SAMD12, MMP1, SPP1, GIP, F5, F2