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Ataxia-Tapetoretinal Degeneration Syndrome
Orphanet
A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.
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Bockenheimer Syndrome
Orphanet
A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur.
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1p35.2 Microdeletion Syndrome
Orphanet
A very rare, chromosomal anomaly characterized by an intrauterine and postanatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominenet forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.
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16p13.2 Microdeletion Syndrome
Orphanet
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.
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Pachygyria-Intellectual Disability-Epilepsy Syndrome
Orphanet
A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.
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Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Orphanet
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.
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Brachyolmia-Amelogenesis Imperfecta Syndrome
Orphanet
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.
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Metaphyseal Dysplasia
Wikipedia
Metaphyseal dysplasia Other names Pyle's disease , [1] Pyle's syndrome , Pyle-Cohn syndrome , and Bakwin-Krida syndrome [2] This condition is inherited via an autosomal recessive manner Specialty Medical genetics Metaphyseal dysplasia , or Pyle disease, [3] is a disorder of the bones . ... ^ a b c d e "Pyle's Disease - Genetics Home Reference" . ^ Syndrome of the month. Journal of Medical Genetics, 1987, 24, 321-322 ^ a b "Pyle disease - Genetic and Rare Diseases Information Center" . ^ "Pyle metaphyseal dysplasia - Conditions - GTR - NCBI" . www.ncbi.nlm.nih.gov . ... The British Journal of Radiology . 52 (618): 431–40. doi : 10.1259/0007-1285-52-618-431 . PMID 465917 . ^ Syndrome of the month. Journal of Medical Genetics, 1987, 24, 323-324. ^ RESERVED, INSERM US14-- ALL RIGHTS. ... External links [ edit ] Classification D ICD - 10 : Q78.5 ICD - 9-CM : 756.9 OMIM : 265900 MeSH : C536252 DiseasesDB : 29227 External resources Orphanet : 3005 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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Barbiturate Dependence
Wikipedia
The abusers tend to prefer rapid acting barbiturates (amobarbital, pentobarbital, secobarbital) rather than long-acting barbiturates (barbital, phenobarbital). [6] The slowly eliminated phenobarbital lessens the severity of the withdrawal syndrome and reduces the chances of serious barbiturate withdrawal effects such as seizures. [7] A cold turkey withdrawal can in some cases lead to death. ... "Sedative-Hypnotic Drug Withdrawal Syndrome: Recognition And Treatment". Emerg Med Pract . 19 (3): 1–20. ... External links [ edit ] Classification D ICD - 10 : F13 .2 ICD - 9-CM : 304.1 v t e Psychoactive substance-related disorder General SID Substance intoxication / Drug overdose Substance-induced psychosis Withdrawal : Craving Neonatal withdrawal Post-acute-withdrawal syndrome (PAWS) SUD Substance abuse / Substance-related disorders Physical dependence / Psychological dependence / Substance dependence Combined substance use SUD Polysubstance dependence SID Combined drug intoxication (CDI) Alcohol SID Cardiovascular diseases Alcoholic cardiomyopathy Alcohol flush reaction (AFR) Gastrointestinal diseases Alcoholic liver disease (ALD): Alcoholic hepatitis Auto-brewery syndrome (ABS) Endocrine diseases Alcoholic ketoacidosis (AKA) Nervous system diseases Alcohol-related dementia (ARD) Alcohol intoxication Hangover Neurological disorders Alcoholic hallucinosis Alcoholic polyneuropathy Alcohol-related brain damage Alcohol withdrawal syndrome (AWS): Alcoholic hallucinosis Delirium tremens (DTs) Fetal alcohol spectrum disorder (FASD) Fetal alcohol syndrome (FAS) Korsakoff syndrome Positional alcohol nystagmus (PAN) Wernicke–Korsakoff syndrome (WKS, Korsakoff psychosis) Wernicke encephalopathy (WE) Respiratory tract diseases Alcohol-induced respiratory reactions Alcoholic lung disease SUD Alcoholism (alcohol use disorder (AUD)) Binge drinking Caffeine SID Caffeine-induced anxiety disorder Caffeine-induced sleep disorder Caffeinism SUD Caffeine dependence Cannabis SID Cannabis arteritis Cannabinoid hyperemesis syndrome (CHS) SUD Amotivational syndrome Cannabis use disorder (CUD) Synthetic cannabinoid use disorder Cocaine SID Cocaine intoxication Prenatal cocaine exposure (PCE) SUD Cocaine dependence Hallucinogen SID Acute intoxication from hallucinogens (bad trip) Hallucinogen persisting perception disorder (HPPD) Nicotine SID Nicotine poisoning Nicotine withdrawal SUD Nicotine dependence Opioids SID Opioid overdose SUD Opioid use disorder (OUD) Sedative / hypnotic SID Kindling (sedative–hypnotic withdrawal) benzodiazepine : SID Benzodiazepine overdose Benzodiazepine withdrawal SUD Benzodiazepine use disorder (BUD) Benzodiazepine dependence barbiturate : SID Barbiturate overdose SUD Barbiturate dependence Stimulants SID Stimulant psychosis amphetamine : SUD Amphetamine dependence Volatile solvent SID Sudden sniffing death syndrome (SSDS) Toluene toxicity SUD Inhalant abuse v t e Reinforcement disorders: Addiction and Dependence Addiction Drug Alcohol Amphetamine Cocaine Methamphetamine Methylphenidate Nicotine Opioid Behavioral Financial Gambling Shopping Palatable food Sex-related Intercourse Pornography Internet-related Internet addiction disorder Internet sex addiction Video game addiction Digital media addictions Cellular mechanisms Transcriptional ΔFosB c-Fos Cdk5 CREB GluR2 NF-κB Epigenetic G9a G9a-like protein HDAC1 HDAC2 HDAC3 HDAC4 HDAC5 HDAC9 HDAC10 SIRT1 SIRT2 ... Dependence Concepts Physical dependence Psychological dependence Withdrawal Disorders Drugs Alcoholism Amphetamine Barbiturate Benzodiazepine Caffeine Cannabis Cocaine Nicotine Opioid Non-drug stimuli Tanning dependence Treatment and management Detoxification Alcohol detoxification Drug detoxification Behavioral therapies Cognitive behavioral therapy Relapse prevention Contingency management Community reinforcement approach and family training Motivational enhancement therapy Motivational interviewing Motivational therapy Physical exercise Treatment programs Drug rehab Residential treatment center Heroin-assisted treatment Intensive outpatient program Methadone maintenance Smoking cessation Nicotine replacement therapy Tobacco cessation clinics in India Twelve-step program Support groups Addiction recovery groups List of twelve-step groups Harm reduction Category:Harm reduction Drug checking Reagent testing Low-threshold treatment programs Managed alcohol program Moderation Management Needle exchange program Responsible drug use Stimulant maintenance Supervised injection site Tobacco harm reduction See also Addiction medicine Allen Carr Category:Addiction Discrimination against drug addicts Dopamine dysregulation syndrome Cognitive control Inhibitory control Motivational salience Incentive salience Sober companion Category This article about a disease , disorder, or medical condition is a stub .
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Androgen Deficiency
Wikipedia
Androgen deficiency Other names Hypoandrogenism, androgen deficiency syndrome, men with hypogonadism [1] Androgen deficiency is a medical condition characterized by not enough androgenic activity in the body. ... Alternatively, it may be the result of conditions such as androgen insensitivity syndrome or hyperestrogenism . More simply, old age may also be a factor in the development of hypoandrogenism, as androgen levels decline with age. [ citation needed ] Diagnosis [ edit ] Diagnosis of androgenic deficiency in males should be based on symptoms together with at least two measurements of testosterone done first thing in the morning after a period of not eating. [1] In those without symptoms testing is not generally recommended. [1] Androgen deficiency is not usually a checked for diagnosis in healthy women. [5] Treatment [ edit ] See also: Testosterone (medication) Treatment may consist of hormone replacement therapy with androgens in those with symptoms. [1] Treatment mostly just improves sexual function in males. [1] Alternatively, gonadotropin-releasing hormone (GnRH)/ GnRH agonists or gonadotropins may be given (in the case of hypogonadotropic hypoandrogenism). ... Retrieved 5 March 2015 . v t e Gonadal disorder Ovarian Polycystic ovary syndrome Premature ovarian failure Estrogen insensitivity syndrome Hyperthecosis Testicular Enzymatic 5α-reductase deficiency 17β-hydroxysteroid dehydrogenase deficiency aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Familial male-limited precocious puberty Partial androgen insensitivity syndrome Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Complete androgen insensitivity syndrome Mild androgen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism
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Proximal Renal Tubular Acidosis
Wikipedia
The principal feature of Fanconi syndrome is bone demineralization ( osteomalacia or rickets ) due to phosphate and vitamin D wasting. ... "A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome". Am. J. Med. Genet . 23 (3): 837–47. doi : 10.1002/ajmg.1320230311 . ... Archived from the original on 2012-09-04. ^ Rochman, J; Lichtig, C; Osterweill, D; Tatarsky, I; Eidelman, S (October 1980). "Adult Fanconi's syndrome with renal tubular acidosis in association with renal amyloidosis: occurrence in a patient with chronic lymphocytic leukemia" . ... PMID 6775610 . ^ Messiaen T, Deret S, Mougenot B, et al. (2000). "Adult Fanconi syndrome secondary to light chain gammopathy. ... External links [ edit ] Classification D OMIM : 179830 MeSH : D000141 DiseasesDB : 11687 External resources MedlinePlus : 000497 Orphanet : 47159 v t e Kidney disease Glomerular disease See Template:Glomerular disease Tubules Renal tubular acidosis proximal distal Acute tubular necrosis Genetic Fanconi syndrome Bartter syndrome Gitelman syndrome Liddle's syndrome Interstitium Interstitial nephritis Pyelonephritis Balkan endemic nephropathy Vascular Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis General syndromes Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia Other Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx / pelvis Hydronephrosis Pyonephrosis Reflux nephropathy v t e Acid–base disorders Acidosis Metabolic High anion gap Ketoacidosis Diabetic ketoacidosis Alcoholic ketoacidosis Lactic Normal anion gap Hyperchloremic Renal tubular Respiratory Respiratory Alkalosis Metabolic Contraction alkalosis Respiratory Other Mixed disorder of acid-base balance Acid–base homeostasis
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Aortic Aneurysm, Familial Thoracic 1
Omim
Medial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome (154700), and vascular (type IV) Ehlers-Danlos syndrome (130050). ... No stigmata of Marfan syndrome were present. Humphries et al. (1972) reported dissecting aortic aneurysm in mother and daughter. ... Toyama et al. (1989) observed acute aortic dissection in 3 of 4 sibs without signs of Marfan syndrome. The mother died at age 55 of acute dissection, as did several of her sibs. Pyeritz (1990) pointed out that in the familial aortic dissection cases the aortic root often does not have the bulbous appearance characteristic of the Marfan syndrome. Furthermore, aortic dissection may occur with degrees of dilatation in the first part of the ascending aorta that would not ordinarily be considered dangerous in the Marfan syndrome. Vaughan et al. (2001) reported 3 families in which thoracic aortic aneurysms associated, in some individuals, with aneurysms elsewhere in the arterial tree and segregated as an autosomal dominant trait. Marfan syndrome (154700) and Ehlers-Danlos syndrome (130050) had been excluded on phenotypic grounds.
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Hereditary Hyperekplexia Overview
Gene_reviews
Conditions in which the startle response per se is normal, but the startle is triggering the actual disease-defining symptoms Neuropsychiatric syndromes, in which startle may be excessive and can be followed by additional manifestations Conditions with an Abnormal, Exaggerated Startle Complex genetic neurodevelopmental disorders in which an excessive startle response in infants and children can be associated with developmental delay/intellectual disability often resulting from an inborn error of metabolism or brain malformation (with or without microcephaly and/or epilepsy) (Table 1) are distinct from hereditary hyperekplexia and will not be discussed further in this overview. ... Complex Genetic Neurodevelopmental Disorders with an Excessive Startle Response View in own window Gene Disorder MOI Distinguishing Clinical Features Reference 1 ARHGEF9 Early-infantile epileptic encephalopathy 8 XL Severe ID Epilepsy (often intractable focal seizures or febrile seizures) Dysmorphic features OMIM 300607 ASNS Asparagine synthetase deficiency AR Profound DD & progressive encephalopathy Microcephaly Hypotonia followed by spastic quadriplegia Seizures Asparagine Synthetase Deficiency CACNA1A Early-infantile epileptic encephalopathy 42 AD Epileptic encephalopathy w/myoclonic epilepsy Myoclonic seizures provoked by tactile stimuli & spontaneous & reflex seizures to noise & touch OMIM 617106 CLPB CLPB deficiency (3-methylglutaconic aciduria) AR Congenital or infantile cataracts Neutropenia Other neurologic signs: hypotonia, spasticity, ataxia, dystonia, epilepsy, or ID CLPB Deficiency CRLF1 Crisponi syndrome AR Dysmorphic features, camptodactyly Facial & bulbar weakness Cold-Induced Sweating Syndrome Including Crisponi Syndrome CTNNB1 CTNNB1 -related syndrome AD Hyperekplexia is rare in this entity (single case report) Later onset of hyperekplexia (not congenital but in childhood) & atypical pattern (no generalized stiffness induced by startle) No congenital stiffness Progressive neurologic involvement w/additional signs (ID, ataxia, spasticity) Microcephaly Winczewska-Wiktor et al [2016] GPHN Molybdenum cofactor deficiency, complementation group C AR Intractable seizures Severe psychomotor retardation Hypotonia combined w/hyperreflexia Usually lethal in infancy OMIM 615501 HEXA Tay-Sachs disease AR DD or regression Visual impairment Epilepsy Later: macrocephaly, decerebrate posturing, dysphagia, progression to unresponsive vegetative state Hexosaminidase A Deficiency RPS6KA3 Coffin-Lowry syndrome XL ID Facial dysmorphism, tapering digits, & skeletal deformity Besides hyperekplexia, there may be other types of stimulus-induced drop attacks (e.g., cataplexy-like episodes) Coffin-Lowry Syndrome SCN8A Early-infantile epileptic encephalopathy 13 AD Epileptic encephalopathy w/DD & ID SCN8A -Related Epilepsy with Encephalopathy SLC6A9 GLYT1 encephalopathy AR Hypotonia > hypertonicity Arthrogryposis Respiratory failure Dysmorphic features Encephalopathy GLYT1 Encephalopathy SUOX Isolated sulfite oxidase deficiency AR Progressive epileptic encephalopathy Other neurologic features: opisthotonus, spastic quadriplegia, pyramidal signs Microcephaly, dysmorphic features Isolated Sulfite Oxidase Deficiency TRAK1 Early-infantile epileptic encephalopathy 68 AR Hypotonia Progressive epileptic encephalopathy OMIM 618201 TSEN54 Pontocerebellar hypoplasia type 2 AR Generalized clonus ("jitteriness") Delayed developmental (motor & cognitive) milestones Other neurologic signs: spasticity, chorea, visual impairment, epilepsy TSEN54 -Related Pontocerebellar Hypoplasia AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance; XL = X-linked 1. ... Subacute sclerosing panencephalitis Neuropsychiatric Startle Syndromes In addition to excessive startling, behavioral and/or psychiatric findings are observed in the following groups of disorders: Culture-specific syndromes, in which an exaggerated startle response, evoked by auditory, sensory, or visual stimuli occurs within a community [Meinck 2006]. ... Anxiety disorders, functional neurologic disorders Tics and Gilles de la Tourette syndrome, in which an exaggerated startle reflex has been described in some, but not all, affected individuals Management
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Mental Retardation, X-Linked 19
Omim
Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS; 303600), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. ... Clinical Features Choo et al. (1984) reported a family with nonsyndromic X-linked mental retardation that did not show linkage to fragile X syndrome (300624) or to the F9 (300746) gene on chromosome Xq27. ... Two affected individuals, then 38 and 29 years old, had none of the facial, digital, or skeletal features or the abnormal posture or gait typical of Coffin-Lowry syndrome. Furthermore, both presented with very mild mental retardation, compatible with social autonomy. ... The authors noted that 2 additional syndromic mental retardation syndromes, Coffin-Lowry and Partington syndrome (PRTS; 309510), also map to this region, suggesting that they may represent the same entity. ... Genotype/Phenotype Correlations Field et al. (2006) noted that the mutations in their report and the mutation (300075.0011) reported by Manouvrier-Hanu et al. (1999) in a family with mild Coffin-Lowry syndrome were small in-frame deletions or missense mutations affecting the serine/threonine kinase domain.IQSEC2, DLG3, GDI1, PAK3, ACSL4, ARX, MECP2, RPS6KA3, HCFC1, IL1RAPL1, TSPAN7, FTSJ1, ZNF41, DMD, CNKSR2, MID2, AGTR2, UPF3B, CXorf56, FRMPD4, ALG13, SLC9A7, RAB39B, PTCHD1, ZNF81, MED12, ZNF711, ARHGEF6, SYP, CLCN4, USP27X, USP9X, ABCG2, FRAXE, AFF2, STS, OPHN1, ALAS2, POU3F4, SERPINA4, RPS6KA6, THOC2, ANOS1, FMR1, ELK1
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Eczema Vaccinatum
Wikipedia
About. v t e Skin infections , symptoms and signs related to viruses DNA virus Herpesviridae Alpha HSV Herpes simplex Herpetic whitlow Herpes gladiatorum Herpes simplex keratitis Herpetic sycosis Neonatal herpes simplex Herpes genitalis Herpes labialis Eczema herpeticum Herpetiform esophagitis Herpes B virus B virus infection VZV Chickenpox Herpes zoster Herpes zoster oticus Ophthalmic zoster Disseminated herpes zoster Zoster-associated pain Modified varicella-like syndrome Beta Human herpesvirus 6 / Roseolovirus Exanthema subitum Roseola vaccinia Cytomegalic inclusion disease Gamma KSHV Kaposi's sarcoma Poxviridae Ortho Variola Smallpox Alastrim MoxV Monkeypox CPXV Cowpox VV Vaccinia Generalized vaccinia Eczema vaccinatum Progressive vaccinia Buffalopox Para Farmyard pox : Milker's nodule Bovine papular stomatitis Pseudocowpox Orf Sealpox Other Yatapoxvirus : Tanapox Yaba monkey tumor virus MCV Molluscum contagiosum Papillomaviridae HPV Wart / plantar wart Heck's disease Genital wart giant Laryngeal papillomatosis Butcher's wart Bowenoid papulosis Epidermodysplasia verruciformis Verruca plana Pigmented wart Verrucae palmares et plantares BPV Equine sarcoid Parvoviridae Parvovirus B19 Erythema infectiosum Reticulocytopenia Papular purpuric gloves and socks syndrome Polyomaviridae Merkel cell polyomavirus Merkel cell carcinoma RNA virus Paramyxoviridae MeV Measles Togaviridae Rubella virus Rubella Congenital rubella syndrome ("German measles" ) Alphavirus infection Chikungunya fever Picornaviridae CAV Hand, foot, and mouth disease Herpangina FMDV Foot-and-mouth disease Boston exanthem disease Ungrouped Asymmetric periflexural exanthem of childhood Post-vaccination follicular eruption Lipschütz ulcer Eruptive pseudoangiomatosis Viral-associated trichodysplasia Gianotti–Crosti syndrome v t e Adverse drug reactions Antibiotics Penicillin drug reaction Sulfonamide hypersensitivity syndrome Urticarial erythema multiforme Adverse effects of fluoroquinolones Red man syndrome Jarisch–Herxheimer reaction Hormones Steroid acne Steroid folliculitis Chemotherapy Chemotherapy-induced acral erythema Chemotherapy-induced hyperpigmentation Scleroderma-like reaction to taxanes Hydroxyurea dermopathy Exudative hyponychial dermatitis Anticoagulants Anticoagulant-induced skin necrosis Warfarin necrosis Vitamin K reaction Texier's disease Immunologics Adverse reaction to biologic agents Leukotriene receptor antagonist-associated Churg–Strauss syndrome Methotrexate-induced papular eruption Adverse reaction to cytokines Other drugs Anticonvulsant hypersensitivity syndrome Allopurinol hypersensitivity syndrome Vaccine adverse event Eczema vaccinatum Bromoderma Halogenoderma Iododerma General Skin and body membranes Acute generalized exanthematous pustulosis Bullous drug reaction Drug-induced acne Drug-induced angioedema Drug-related gingival hyperplasia Drug-induced lichenoid reaction Drug-induced lupus erythematosus Drug-induced nail changes Drug-induced pigmentation Drug-induced urticaria Stevens–Johnson syndrome Injection site reaction Linear IgA bullous dermatosis Toxic epidermal necrolysis HIV disease-related drug reaction Photosensitive drug reaction Other Drug-induced pseudolymphoma Fixed drug reaction Serum sickness-like reaction
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Sexual Relationship Disorder
Wikipedia
. ^ Report of the American Psychological Association Task Force on Appropriate Therapeutic Responses to Sexual Orientation External links [ edit ] Classification D ICD - 10 : F66.2 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 This sexuality -related article is a stub .
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Diffuse Infiltrative Lymphocytosis Syndrome
Wikipedia
Diffuse infiltrative lymphocytosis syndrome Specialty Immunology Diffuse infiltrative lymphocytosis syndrome occurs in HIV positive patients with low CD4 counts. [1] [2] It is similar to Sjögren's syndrome , [3] with painless parotid and submandibular swelling, and sicca symptoms. The syndrome typically improves with HAART . [ citation needed ] References [ edit ] ^ Snow, James Byron; Ballenger, John Jacob (2009). ... Retrieved 1 July 2010 . v t e Leukaemias , lymphomas and related disease B cell ( lymphoma , leukemia ) (most CD19 CD20 ) By development/ marker TdT+ ALL ( Precursor B acute lymphoblastic leukemia/lymphoma ) CD5 + naive B cell ( CLL/SLL ) mantle zone ( Mantle cell ) CD22 + Prolymphocytic CD11c+ ( Hairy cell leukemia ) CD79a + germinal center / follicular B cell ( Follicular Burkitt's GCB DLBCL Primary cutaneous follicle center lymphoma ) marginal zone / marginal zone B-cell ( Splenic marginal zone MALT Nodal marginal zone Primary cutaneous marginal zone lymphoma ) RS ( CD15 +, CD30 +) Classic Hodgkin lymphoma ( Nodular sclerosis ) CD20+ ( Nodular lymphocyte predominant Hodgkin lymphoma ) PCDs / PP ( CD38 +/ CD138 +) see immunoproliferative immunoglobulin disorders By infection KSHV ( Primary effusion ) EBV Lymphomatoid granulomatosis Post-transplant lymphoproliferative disorder Classic Hodgkin lymphoma Burkitt's lymphoma HCV Splenic marginal zone lymphoma HIV ( AIDS-related lymphoma ) Helicobacter pylori ( MALT lymphoma ) Cutaneous Diffuse large B-cell lymphoma Intravascular large B-cell lymphoma Primary cutaneous marginal zone lymphoma Primary cutaneous immunocytoma Plasmacytoma Plasmacytosis Primary cutaneous follicle center lymphoma T/NK T cell ( lymphoma , leukemia ) (most CD3 CD4 CD8 ) By development/ marker TdT+ : ALL ( Precursor T acute lymphoblastic leukemia/lymphoma ) prolymphocyte ( Prolymphocytic ) CD30+ ( Anaplastic large-cell lymphoma Lymphomatoid papulosis type A ) Cutaneous MF+variants indolent: Mycosis fungoides Pagetoid reticulosis Granulomatous slack skin aggressive: Sézary disease Adult T-cell leukemia/lymphoma Non-MF CD30 -: Non-mycosis fungoides CD30− cutaneous large T-cell lymphoma Pleomorphic T-cell lymphoma Lymphomatoid papulosis type B CD30 +: CD30+ cutaneous T-cell lymphoma Secondary cutaneous CD30+ large-cell lymphoma Lymphomatoid papulosis type A Other peripheral Hepatosplenic Angioimmunoblastic Enteropathy-associated T-cell lymphoma Peripheral T-cell lymphoma not otherwise specified ( Lennert lymphoma ) Subcutaneous T-cell lymphoma By infection HTLV-1 ( Adult T-cell leukemia/lymphoma ) NK cell / (most CD56 ) Aggressive NK-cell leukemia Blastic NK cell lymphoma T or NK EBV ( Extranodal NK-T-cell lymphoma / Angiocentric lymphoma ) Large granular lymphocytic leukemia Lymphoid+ myeloid Acute biphenotypic leukaemia Lymphocytosis Lymphoproliferative disorders ( X-linked lymphoproliferative disease Autoimmune lymphoproliferative syndrome ) Leukemoid reaction Diffuse infiltrative lymphocytosis syndrome Cutaneous lymphoid hyperplasia Cutaneous lymphoid hyperplasia with bandlike and perivascular patterns with nodular pattern Jessner lymphocytic infiltrate of the skin General Hematological malignancy leukemia Lymphoproliferative disorders Lymphoid leukemias v t e HIV / AIDS topics HIV/AIDS HIV HIV Lentivirus structure and genome subtypes CDC classification disease progression rates HIV/AIDS diagnosis management pathophysiology prevention research vaccination PrEP WHO disease staging system for HIV infection and disease Children Teens / Adults Countries by AIDS prevalence rate Conditions Signs and symptoms AIDS-defining clinical condition Diffuse infiltrative lymphocytosis syndrome Lipodystrophy Nephropathy Neurocognitive disorders Pruritus Superinfection Tuberculosis co-infection HIV Drug Resistance Database Innate resistance to HIV Serostatus HIV-positive people Nutrition Pregnancy History History Epidemiology Multiple sex partners Timeline AIDS Museum Timothy Ray Brown Women and HIV/AIDS Social AIDS orphan Catholic Church and HIV/AIDS Circumcision and HIV Criminal transmission Discrimination against people Economic impact Cost of treatment HIV-affected community HIV/AIDS activism HIV/AIDS denialism Red ribbon Safe sex Sex education List of HIV-positive people People With AIDS Self-Empowerment Movement HIV/AIDS in the porn industry Culture Discredited HIV/AIDS origins theories International AIDS Conference International AIDS Society Joint United Nations Programme on HIV/AIDS (UNAIDS) Media portrayal of HIV/AIDS Misconceptions about HIV/AIDS President's Emergency Plan for AIDS Relief (PEPFAR) The SING Campaign Solidays Treatment Action Campaign World AIDS Day YAA/Youthforce "Free Me" Larry Kramer Gay Men's Health Crisis ACT UP Silence=Death Project HIV/AIDS pandemic by region / country Africa Angola Benin Botswana Democratic Republic of the Congo Egypt Eswatini Ethiopia Ghana Guinea Côte d'Ivoire (Ivory Coast) Kenya Lesotho Madagascar Malawi Mali Mozambique Namibia Niger Nigeria Rwanda Senegal Tanzania South Africa Uganda Zambia Zimbabwe North America Canada Mexico El Salvador Guatemala Honduras Nicaragua United States New York City Caribbean Haiti Jamaica Dominican Republic South America Bolivia Brazil Colombia Guyana Peru Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Cambodia China (PRC) ( Yunnan ) East Timor India Indonesia Iran Iraq Japan Jordan North Korea Laos Malaysia Myanmar (Burma) Nepal Pakistan Philippines Saudi Arabia Sri Lanka Taiwan (ROC) Thailand United Arab Emirates Turkey Vietnam Europe United Kingdom Russia Ukraine Oceania Australia New Zealand Papua New Guinea List of countries by HIV/AIDS adult prevalence rate List of HIV/AIDS cases and deaths registered by region This article about a disease , disorder, or medical condition is a stub .
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Bowenoid Papulosis
Wikipedia
External links [ edit ] Classification D DiseasesDB : 33257 External resources eMedicine : article/1131696 v t e Skin infections , symptoms and signs related to viruses DNA virus Herpesviridae Alpha HSV Herpes simplex Herpetic whitlow Herpes gladiatorum Herpes simplex keratitis Herpetic sycosis Neonatal herpes simplex Herpes genitalis Herpes labialis Eczema herpeticum Herpetiform esophagitis Herpes B virus B virus infection VZV Chickenpox Herpes zoster Herpes zoster oticus Ophthalmic zoster Disseminated herpes zoster Zoster-associated pain Modified varicella-like syndrome Beta Human herpesvirus 6 / Roseolovirus Exanthema subitum Roseola vaccinia Cytomegalic inclusion disease Gamma KSHV Kaposi's sarcoma Poxviridae Ortho Variola Smallpox Alastrim MoxV Monkeypox CPXV Cowpox VV Vaccinia Generalized vaccinia Eczema vaccinatum Progressive vaccinia Buffalopox Para Farmyard pox : Milker's nodule Bovine papular stomatitis Pseudocowpox Orf Sealpox Other Yatapoxvirus : Tanapox Yaba monkey tumor virus MCV Molluscum contagiosum Papillomaviridae HPV Wart / plantar wart Heck's disease Genital wart giant Laryngeal papillomatosis Butcher's wart Bowenoid papulosis Epidermodysplasia verruciformis Verruca plana Pigmented wart Verrucae palmares et plantares BPV Equine sarcoid Parvoviridae Parvovirus B19 Erythema infectiosum Reticulocytopenia Papular purpuric gloves and socks syndrome Polyomaviridae Merkel cell polyomavirus Merkel cell carcinoma RNA virus Paramyxoviridae MeV Measles Togaviridae Rubella virus Rubella Congenital rubella syndrome ("German measles" ) Alphavirus infection Chikungunya fever Picornaviridae CAV Hand, foot, and mouth disease Herpangina FMDV Foot-and-mouth disease Boston exanthem disease Ungrouped Asymmetric periflexural exanthem of childhood Post-vaccination follicular eruption Lipschütz ulcer Eruptive pseudoangiomatosis Viral-associated trichodysplasia Gianotti–Crosti syndrome v t e Tumors of the male urogenital system Testicles Sex cord– gonadal stromal Sertoli–Leydig cell tumour Sertoli cell tumour Leydig cell tumour Germ cell G Seminoma Spermatocytic tumor Germ cell neoplasia in situ NG Embryonal carcinoma Endodermal sinus tumor Gonadoblastoma Teratoma Choriocarcinoma Embryoma Prostate Adenocarcinoma High-grade prostatic intraepithelial neoplasia HGPIN Small-cell carcinoma Transitional cell carcinoma Penis Carcinoma Extramammary Paget's disease Bowen's disease Bowenoid papulosis Erythroplasia of Queyrat Hirsuties coronae glandis 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 This infection-related cutaneous condition article is a stub .
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Cardiac-Urogenital Syndrome
Omim
A number sign (#) is used with this entry because of evidence that cardiac-urogenital syndrome (CUGS) is caused by heterozygous mutation in the MYRF gene (608329) on chromosome 11q12. Description Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism (Pinz et al., 2018). ... Cardiac defects included atrial and ventricular septal defects, hypoplastic left heart, dextrocardia, tetralogy of Fallot, and scimitar syndrome. Urogenital anomalies included ambiguous genitalia, undescended testes, 46,XY complete gonadal dysgenesis (Swyer syndrome with female genitalia), and blind-ending vagina with absence of internal genital organs in an XX patient. ... Noting that a monozygotic female twin pair was discordant for CDH, the authors suggested that the manifestation of CDH in this syndrome depends on other genetic, environmental, or stochastic factors. Molecular Genetics In 2 unrelated male infants with cardiac-urogenital syndrome, Pinz et al. (2018) identified heterozygosity for de novo mutations in the MYRF gene, a splice site variant (608329.0002) and a nonsense mutation (R840X; 608329.0003), respectively, that were not found in the gnomAD database.
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Psychomotor Retardation
Wikipedia
External links [ edit ] Classification D ICD - 9-CM : 308.2 MeSH : D011596 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