-
Dent Disease 2
Omim
See also Lowe oculocerebrorenal syndrome (OCRL; 309000), an allelic disorder with a more severe phenotype including extrarenal manifestations. ... Other more variable extrarenal features among the patients included increased lactate dehydrogenase, increased creatine kinase, short stature, and umbilical hernia, some of which were reminiscent of Lowe syndrome. Bockenhauer et al. (2012) concluded that there is a broad phenotypic spectrum of OCRL mutations, suggesting that Dent disease-2 may be a mild variant of Lowe syndrome (Levin-Iaina and Dinour, 2012).
-
Autism, Susceptibility To, X-Linked 1
Omim
'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). ... Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). ... Molecular Genetics In a Swedish family in which 1 brother had typical autism and another had Asperger syndrome (ASPGX1; 300494), Jamain et al. (2003) identified a mutation in the NLGN3 gene (300336.0001), located at Xq13.
-
Intranodal Palisaded Myofibroblastoma
Wikipedia
CS1 maint: DOI inactive as of January 2021 ( link ) v t e Lymphatic disease : organ and vessel diseases Thymus Abscess Hyperplasia Hypoplasia DiGeorge syndrome Ectopic thymus Thymoma Thymic carcinoma Spleen Asplenia Asplenia with cardiovascular anomalies Accessory spleen Polysplenia Wandering spleen Splenomegaly Banti's syndrome Splenic infarction Splenic tumor Lymph node Lymphadenopathy Generalized lymphadenopathy Castleman's disease Intranodal palisaded myofibroblastoma Kikuchi disease Tonsils see Template:Respiratory pathology Lymphatic vessels Lymphangitis Lymphangiectasia Lymphedema Primary lymphedema Congenital lymphedema Lymphedema praecox Lymphedema tarda Lymphedema–distichiasis syndrome Milroy's disease Secondary lymphedema Bullous lymphedema Factitial lymphedema Postinflammatory lymphedema Postmastectomy lymphangiosarcoma Waldmann disease
-
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Orphanet
Differential diagnosis Differential diagnosis includes myelodysplastic syndromes, thalassemias, Gilbert syndrome, hereditary spherocytosis, acute erythroid leukemia (see these terms), folate, iron or vitamin B12 deficiencies as well as infections such as AIDS, malaria (see this term), kala-azar or other acquired or inherited thrombocytopenias. Wiskott-Aldrich Syndrome (see this term) should also be excluded.
-
Immunodeficiency 26
Wikipedia
Specialty Medical genetics Immunodeficiency 26 is a rare genetic syndrome. It is characterised by absent circulating B and T cells and normal natural killer cells . ... This protein acts as a sensor for damaged DNA. [ citation needed ] Diagnosis [ edit ] Diagnosis is made by examination of the circulating lymphocytes and gene sequencing. [ citation needed ] Differential diagnosis [ edit ] Ataxia telangectasia Artemis deficiency LIG4 syndrome Nijmegen breakage syndrome Severe combined immunodeficiency with Cernunnos X-linked agammaglobulinemia Management [ edit ] This section is empty.
-
Adjustment Disorder
Wikipedia
In addition, it was found that 15 of these 22 patients chose suicide methods that involved high chances of being saved. [12] Henriksson et al. (2005) states statistically that the stressors are of one-half related to parental issues and one-third in peer issues. [13] One hypothesis about AjD is that it may represent a sub-threshold clinical syndrome. [9] Risk factors [ edit ] Those exposed to repeated trauma are at greater risk, even if that trauma is in the distant past. ... ISBN 978-1585625055 External links [ edit ] Classification D ICD - 10 : F43.2 ICD - 9-CM : 309 MeSH : D000275 DiseasesDB : 33765 External resources MedlinePlus : 000932 eMedicine : med/3348 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
-
Erythema Nodosum
Wikipedia
A chest X-ray should be performed to rule out pulmonary diseases, in particular sarcoidosis and Löfgren syndrome . [4] Treatment [ edit ] Erythema nodosum is self-limiting and usually resolves itself within 3–6 weeks. ... "A double-blind trial of depot corticosteroids in Behcet's syndrome" . Rheumatology . 45 (3): 348–52. doi : 10.1093/rheumatology/kei165 . ... "A double-blind trial of colchicine in Behçet's syndrome" . Arthritis & Rheumatism . 44 (11): 2686–92. doi : 10.1002/1529-0131(200111)44:11<2686::AID-ART448>3.0.CO;2-H . ... External links [ edit ] Classification D ICD - 10 : L52 ICD - 9-CM : 695.2 , 017.1 MeSH : D004893 DiseasesDB : 4462 External resources MedlinePlus : 000881 eMedicine : derm/138 Wikimedia Commons has media related to Erythema nodosum . v t e Diseases of the skin and appendages by morphology Growths Epidermal Wart Callus Seborrheic keratosis Acrochordon Molluscum contagiosum Actinic keratosis Squamous-cell carcinoma Basal-cell carcinoma Merkel-cell carcinoma Nevus sebaceous Trichoepithelioma Pigmented Freckles Lentigo Melasma Nevus Melanoma Dermal and subcutaneous Epidermal inclusion cyst Hemangioma Dermatofibroma (benign fibrous histiocytoma) Keloid Lipoma Neurofibroma Xanthoma Kaposi's sarcoma Infantile digital fibromatosis Granular cell tumor Leiomyoma Lymphangioma circumscriptum Myxoid cyst Rashes With epidermal involvement Eczematous Contact dermatitis Atopic dermatitis Seborrheic dermatitis Stasis dermatitis Lichen simplex chronicus Darier's disease Glucagonoma syndrome Langerhans cell histiocytosis Lichen sclerosus Pemphigus foliaceus Wiskott–Aldrich syndrome Zinc deficiency Scaling Psoriasis Tinea ( Corporis Cruris Pedis Manuum Faciei ) Pityriasis rosea Secondary syphilis Mycosis fungoides Systemic lupus erythematosus Pityriasis rubra pilaris Parapsoriasis Ichthyosis Blistering Herpes simplex Herpes zoster Varicella Bullous impetigo Acute contact dermatitis Pemphigus vulgaris Bullous pemphigoid Dermatitis herpetiformis Porphyria cutanea tarda Epidermolysis bullosa simplex Papular Scabies Insect bite reactions Lichen planus Miliaria Keratosis pilaris Lichen spinulosus Transient acantholytic dermatosis Lichen nitidus Pityriasis lichenoides et varioliformis acuta Pustular Acne vulgaris Acne rosacea Folliculitis Impetigo Candidiasis Gonococcemia Dermatophyte Coccidioidomycosis Subcorneal pustular dermatosis Hypopigmented Tinea versicolor Vitiligo Pityriasis alba Postinflammatory hyperpigmentation Tuberous sclerosis Idiopathic guttate hypomelanosis Leprosy Hypopigmented mycosis fungoides Without epidermal involvement Red Blanchable Erythema Generalized Drug eruptions Viral exanthems Toxic erythema Systemic lupus erythematosus Localized Cellulitis Abscess Boil Erythema nodosum Carcinoid syndrome Fixed drug eruption Specialized Urticaria Erythema ( Multiforme Migrans Gyratum repens Annulare centrifugum Ab igne ) Nonblanchable Purpura Macular Thrombocytopenic purpura Actinic/solar purpura Papular Disseminated intravascular coagulation Vasculitis Indurated Scleroderma / morphea Granuloma annulare Lichen sclerosis et atrophicus Necrobiosis lipoidica Miscellaneous disorders Ulcers Hair Telogen effluvium Androgenic alopecia Alopecia areata Systemic lupus erythematosus Tinea capitis Loose anagen syndrome Lichen planopilaris Folliculitis decalvans Acne keloidalis nuchae Nail Onychomycosis Psoriasis Paronychia Ingrown nail Mucous membrane Aphthous stomatitis Oral candidiasis Lichen planus Leukoplakia Pemphigus vulgaris Mucous membrane pemphigoid Cicatricial pemphigoid Herpesvirus Coxsackievirus Syphilis Systemic histoplasmosis Squamous-cell carcinoma v t e Urticaria and erythema Urticaria ( acute / chronic ) Allergic urticaria Urticarial allergic eruption Physical urticaria Cold urticaria Familial Primary cold contact urticaria Secondary cold contact urticaria Reflex cold urticaria Heat urticaria Localized heat contact urticaria Solar urticaria Dermatographic urticaria Vibratory angioedema Pressure urticaria Cholinergic urticaria Aquagenic urticaria Other urticaria Acquired C1 esterase inhibitor deficiency Adrenergic urticaria Exercise urticaria Galvanic urticaria Schnitzler syndrome Urticaria-like follicular mucinosis Angioedema Episodic angioedema with eosinophilia Hereditary angioedema Erythema Erythema multiforme / drug eruption Erythema multiforme minor Erythema multiforme major Stevens–Johnson syndrome , Toxic epidermal necrolysis panniculitis ( Erythema nodosum ) Acute generalized exanthematous pustulosis Figurate erythema Erythema annulare centrifugum Erythema marginatum Erythema migrans Erythema gyratum repens Other erythema Necrolytic migratory erythema Erythema toxicum Erythroderma Palmar erythema Generalized erythema v t e Disorders of subcutaneous fat Panniculitis Lobular without vasculitis Cold Cytophagic histiocytic Factitial Gouty Pancreatic Traumatic needle-shaped clefts Subcutaneous fat necrosis of the newborn Sclerema neonatorum Post-steroid panniculitis Lipodermatosclerosis Weber–Christian disease Lupus erythematosus panniculitis Sclerosing lipogranuloma with vasculitis: Nodular vasculitis / Erythema induratum Septal without vasculitis: Alpha-1 antitrypsin deficiency panniculitis Erythema nodosum Acute Chronic with vasculitis: Superficial thrombophlebitis Lipodystrophy Acquired generalized: Acquired generalized lipodystrophy partial: Acquired partial lipodystrophy Centrifugal abdominal lipodystrophy HIV-associated lipodystrophy Lipoatrophia annularis localized: Localized lipodystrophy Congenital Congenital generalized lipodystrophy Familial partial lipodystrophy Marfanoid–progeroid–lipodystrophy syndrome Poland syndromeHLA-DRB1, XIAP, NOD2, RPSAP35, PSMB8, ADA2, BTNL2, TNF, HLA-B, TBC1D9, VDR, USO1, RBM45, MAGI1, CLCA2, SOCS5, NXF1, SEC14L2, EIM, SMUG1, ACAD8, GPR162, TGFB1, IL22, IL23A, TUBA1C, CD207, REG1A, SELE, IL10, CDKN2A, CDKN2D, ESR1, F9, FLNB, IL1B, IL2, IL4, CXCL8, INSRR, BRAF, ITGAL, ITGB3, LTA, LY75, MIF, MMP2, NOS3, ABCB1, PTGER4, H3P13
-
Akathisia
Wikipedia
Movement disorder involving a feeling of inner restlessness Akathisia Other names Acathisia Play media Common sign of akathisia Specialty Neurology , psychiatry Symptoms Feelings of restlessness , inability to stay still, uneasy [1] Complications Violence or suicidal thoughts [2] Duration Short- or long-term [2] Causes Antipsychotics , selective serotonin reuptake inhibitors , metoclopramide , reserpine , Parkinson’s disease , untreated schizophrenia [2] Diagnostic method Based on symptoms [2] Differential diagnosis Anxiety , tic disorders , tardive dyskinesia , dystonia , medication-induced parkinsonism , restless leg syndrome [2] [3] Treatment Reduce or switch antipsychotics, correct iron deficiency [2] Medication Diphenhydramine , trazodone , benzodiazepines , benztropine , mirtazapine , beta blockers [4] [2] Frequency Relatively common [4] Akathisia is a movement disorder [5] characterized by a subjective feeling of inner restlessness accompanied by mental distress and an inability to sit still. [6] [4] Usually, the legs are most prominently affected. [2] Those affected may fidget , rock back and forth, or pace, [7] while some may just have an uneasy feeling in their body. [2] The most severe cases may result in aggression, violence or suicidal thoughts. [2] Antipsychotics , particularly the first generation antipsychotics , are a leading cause. [4] [7] Other causes may include selective serotonin reuptake inhibitors , metoclopramide , reserpine , Parkinson’s disease , and untreated schizophrenia . [2] It may also occur upon stopping antipsychotics. [2] The underlying mechanism is believed to involve dopamine . [2] Diagnosis is based on the symptoms. [2] It differs from restless leg syndrome in that akathisia is not associated with sleeping. [2] Treatment may include switching to an antipsychotic with a lower risk of the condition. [2] The antidepressant mirtazapine has demonstrated benefit, [5] and there is tentative evidence of benefit for diphenhydramine , trazodone , benzatropine and beta blockers . [2] [4] The term was first used by Czech neuropsychiatrist Ladislav Haškovec , who described the phenomenon in 1901. [1] It is from Greek a- , meaning "not", and καθίζειν kathízein , meaning "to sit", or in other words an "inability to sit". [2] Contents 1 Classification 2 Signs and symptoms 3 Causes 3.1 Medication-induced 4 Diagnosis 5 Treatment 6 Epidemiology 7 History 8 Notes 9 References 10 External links Classification [ edit ] Akathisia is usually grouped as a medication-induced movement disorder but is also seen to be a neuropsychiatric concern as it can be experienced purely subjectively with no apparent movement abnormalities. [2] Akathisia is generally associated with antipsychotics but it was already described in Parkinson's disease , and other neuropsychiatric disorders. [5] It also presents with the use of non-psychiatric medications, including calcium channel blockers , antibiotics , anti-nausea and anti-vertigo drugs . [5] Signs and symptoms [ edit ] Symptoms of akathisia are often described in vague terms such as feeling nervous, uneasy, tense, twitchy, restless, and an inability to relax. [1] Reported symptoms also include insomnia , a sense of discomfort, motor restlessness , marked anxiety, and panic. [8] Symptoms have also been said to resemble symptoms of neuropathic pain that are similar to fibromyalgia and restless legs syndrome . [9] When due to psychiatric drugs, the symptoms are side effects that usually disappear quickly and remarkably when the medication is reduced or stopped. ... Back and forth, up and down you go … you cannot get relief …“ [13] Causes [ edit ] Medication-induced [ edit ] Medication related causes of akathisia Category Examples Antipsychotics [14] Haloperidol , amisulpride , risperidone , aripiprazole , lurasidone , ziprasidone SSRIs [15] Fluoxetine , [15] paroxetine , [8] citalopram , sertraline [16] Antidepressants Venlafaxine , tricyclics , trazodone , and mirtazapine [17] Antiemetics Metoclopramide , prochlorperazine , and promethazine Drug withdrawal Antipsychotic withdrawal [2] Serotonin syndrome [18] Harmful combinations of psychotropic drugs Medication-induced akathisia is termed acute akathisia and is frequently associated with the use of antipsychotics . [10] Antipsychotics block dopamine receptors , but the pathophysiology is poorly understood. ... These include benzodiazepines , β-adrenergic blockers , and serotonin antagonists . [19] Another major cause of the syndrome is the withdrawal observed in drug-dependent individuals. ... This is why sudden cessation of opioids, cocaine, serotonergics, and other euphoria-inducing substances commonly produce RLS as a side-effect. [19] Akathisia involves increased levels of the neurotransmitter norepinephrine , which is associated with mechanisms that regulate aggression , alertness , and arousal . [20] It has been correlated with Parkinson's disease and related syndromes, and descriptions of akathisia predate the existence of pharmacologic agents. [5] Akathisia can be miscoded in side effect reports from antidepressant clinical trials as "agitation, emotional lability , and hyperkinesis (overactivity)"; misdiagnosis of akathisia as simple motor restlessness occurred, but was more properly classed as dyskinesia . [ medical citation needed ] [8] Diagnosis [ edit ] The presence and severity of akathisia can be measured using the Barnes Akathisia Scale , [21] [22] which assesses both objective and subjective criteria. [21] Precise assessment of akathisia is problematic, as there are various types making it difficult to differentiate from disorders with similar symptoms. [5] The primary distinguishing features of akathisia in comparison with other syndromes are primarily subjective characteristics, such as the feeling of inner restlessness and tension. [23] [24] Akathisia can commonly be mistaken for agitation secondary to psychotic symptoms or mood disorder , antipsychotic dysphoria, restless legs syndrome (RLS), anxiety, insomnia , drug withdrawal states, tardive dyskinesia , or other neurological and medical conditions. [19] The controversial diagnosis of "pseudoakathisia" is sometimes given. [1] Treatment [ edit ] Acute akathisia induced by medication, [10] often antipsychotics, is treated by reducing or discontinuing the medication . [2] [25] Low doses of the antidepressant mirtazapine may be of help. [5] [26] Benzodiazepines , such as lorazepam , beta blockers such as propranolol , anticholinergics such as benztropine , and serotonin antagonists such as cyproheptadine may also be of help in treating acute akathisia but are much less effective for treating chronic akathisia. [25] Vitamin B , and iron supplementation if deficient , may be of help. [2] [4] Epidemiology [ edit ] This article needs to be updated . ... [a] Later in 1960 there were reports of akathisia in response to phenothiazines (a related drug). [1] Akathisia is classified as an extrapyramidal side effect along with other movement disorders that can be caused by antipsychotics. [1] Notes [ edit ] ^ "In 1954, two separate researchers, Professor Hans Steck of Lausanne, and German psychiatrist Hans Joachim Haase provided the first unambiguous descriptions of a syndrome of abnormally reduced and restricted movement that was associated with chlorpromazine. [...]
-
Polycystic Kidney Disease
Wikipedia
Polycystic kidney disease Other names Kidney - polycystic [1] Severely affected polycystic kidneys removed at time of transplantation Specialty Nephrology Symptoms Abdominal pain [1] Types ADPKD [2] and ARPKD [3] Diagnostic method MRI, CT scan, Ultrasound [1] Treatment Antihypertensives, Life style management [4] Polycystic kidney disease ( PKD or PCKD , also known as polycystic kidney syndrome ) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. [5] These cysts may begin to develop in utero, in infancy, in childhood, or in adulthood. [6] Cysts are non-functioning tubules filled with fluid pumped into them, which range in size from microscopic to enormous, crushing adjacent normal tubules and eventually rendering them non-functional as well. ... External links [ edit ] Classification D ICD - 10 : Q61 ICD - 9-CM : 753.1 OMIM : 173900 MeSH : D007690 DiseasesDB : 10262 External resources MedlinePlus : 000502 eMedicine : med/1862 ped/1846 radio/68 radio/69 Patient UK : Polycystic kidney disease Scholia has a topic profile for Polycystic kidney disease . v t e Congenital malformations and deformations of urinary system Abdominal Kidney Renal agenesis / Potter sequence , Papillorenal syndrome cystic Polycystic kidney disease Meckel syndrome Multicystic dysplastic kidney Medullary sponge kidney Horseshoe kidney Renal ectopia Nephronophthisis Supernumerary kidney Pelvic kidney Dent's disease Alport syndrome Ureter Ectopic ureter Megaureter Duplicated ureter Pelvic Bladder Bladder exstrophy Urethra Epispadias Hypospadias Posterior urethral valves Penoscrotal transposition Vestigial Urachus Urachal cyst Urachal fistula Urachal sinus v t e Cystic diseases Respiratory system Langerhans cell histiocytosis Lymphangioleiomyomatosis Cystic bronchiectasis Skin stratified squamous: follicular infundibulum Epidermoid cyst and Proliferating epidermoid cyst Milia Eruptive vellus hair cyst outer root sheath Trichilemmal cyst and Pilar cyst and Proliferating trichilemmal cyst and Malignant trichilemmal cyst sebaceous duct Steatocystoma multiplex and Steatocystoma simplex Keratocyst nonstratified squamous: Cutaneous ciliated cyst Hidrocystoma no epithelium: Pseudocyst of the auricle Mucocele other and ungrouped: Cutaneous columnar cyst Keratin implantation cyst Verrucous cyst Adenoid cystic carcinoma Breast cyst Human musculoskeletal system Cystic hygroma Human digestive system oral cavity: Cysts of the jaws Odontogenic cyst Periapical cyst Dentigerous cyst Odontogenic keratocyst Nasopalatine duct cyst liver: Polycystic liver disease Congenital hepatic fibrosis Peliosis hepatis bile duct: Biliary hamartomas Caroli disease Choledochal cysts Bile duct hamartoma Nervous system Cystic leukoencephalopathy Genitourinary system Polycystic kidney disease Autosomal dominant polycystic kidney Autosomal recessive polycystic kidney Medullary cystic kidney disease Nephronophthisis Congenital cystic dysplasia Other conditions Hydatid cyst Von Hippel–Lindau disease Tuberous sclerosis v t e Diseases of cilia Structural receptor: Polycystic kidney disease cargo: Asphyxiating thoracic dysplasia basal body : Bardet–Biedl syndrome mitotic spindle : Meckel syndrome centrosome : Joubert syndrome Signaling Nephronophthisis Other/ungrouped Alström syndrome Primary ciliary dyskinesia Senior–Løken syndrome Orofaciodigital syndrome 1 McKusick–Kaufman syndrome Autosomal recessive polycystic kidney See also: ciliary proteins Authority control GND : 4117742-3PKD1, PKD2, PRKCSH, ANKS6, SEC63, NPHP3, PMM2, DNAJB11, MTOR, HDAC6, BICC1, PTGS2, LRP5, AGT, MYC, HIF1A, TNC, GPBAR1, SOD1, CDKN1A, CTSH, CTSB, LRP2, RPS6KB1, PLCG1, GNAS, SPP1, SLC34A1, EPAS1, PLA2G4A, PTGS1, BECN1, NOS3, PKHD1, ANGPT2, XYLT2, NPPB, PITX2, C9, PPARG, ATF1, BGLAP, CFB, NEK1, GLIS3, NPHP3-ACAD11, OFD1, PRKD1, IFT43, CDC73, SIX1, MKS1, MARK4, HDAC8, GP1BB, RREB1, TXNDC15, ALG9, CC2D2A, BBS10, TMEM107, PEX12, CEP290, TMEM231, WDR35, PEX5, TMEM138, EXOC3L2, DYNC2H1, SKIV2L, VHL, CPT2, GATA3, JMJD1C, ZDHHC24, HIRA, UFD1, MKKS, DZIP1L, BBS1, ARVCF, TRIP11, SEC24C, TTC37, KIAA0586, ANO5, COMT, TBX1, ETFA, ETFDH, ESCO2, EYA1, ETFB, ZNF423, GANAB, CFTR, TSC2, FGF2, TMEM67, AVP, REN, EDNRA, LCN2, INPP5E, CUX1, NEK8, PKD2L1, SCT, TBPL1, LPAR2, SSTR4, ADRA2B, IFT88, TAZ, TYRP1, STAT3, TULP3, TSC1, CXCR6, PRKD2, ADRA1A, ACKR3, GSK3B, APRT, MIR17, AVPR2, BCL2, BRS3, CASR, CDC25A, CCN2, CTNNB1, EDN1, EGF, PIK3CG, EPO, GPR42, KIAA0319, KIAA0319L, MXI1, TRPV4, PIK3CD, MFAP1, PIK3CB, JAK2, PIK3CA, DNER, BIRC6, MRGPRX1, AQP11, POSTN, OR10A4, ANO1, PKD1L3, YAP1, TMEM130, SPAG11B, MIR20A, VN1R17P, GPR166P, SPAG11A, TUBA1B, MGS, PKDREJ, LGR6, KIF3A, GPRC6A, TMEM207, BHD, FNIP1, PKD1L2, PTPN22, MRGPRX3, MRGPRX4, DNAAF1, OSR1, WWTR1, SLC9B2, OSER1, GPR151, PIP4K2C, CEMIP2, LPAR3, ZMYND10, CENPV, PHB2, CHP1, DCTN3, OXER1, RHO, OXSR1, GLA, EPHA3, EPHB2, ERBB2, FABP1, FGF7, FOS, FOSB, GH1, GLI1, EGFR, GLI2, GLI3, HBA1, HBA2, HGF, IGF1, IL6, IL13, EIF4EBP1, DYNC1H1, ELMO1, BUB1B, AGER, ALOX5, APC, AQP1, AQP2, AQP3, ARG1, B2M, DDR1, ACE, CALR, RUNX1, CCNF, CDC25C, CDK5, RCC1, ATF2, CSNK1E, IL18, ILK, JUN, HNF1B, CCL2, SELE, SP1, SSTR2, STAT5A, STAT5B, STAT6, STK11, TFF3, JUNB, TGFA, TGFB1, TNF, TRAF3, VEGFA, FZD4, PROM1, IFT140, RASGRF1, PTMAP4, PTMA, PTGER2, JUND, MIF, NEDD9, NOTCH2, NOTCH3, NPTX2, P2RX7, PAEP, PAX2, PCNA, PIGR, PKD3, PPARA, PREP, MAPK1, MAPK7, MAP2K5, TPTEP2-CSNK1E
-
Perioral Dermatitis
Wikipedia
Retrieved 2017-11-06 . 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
-
Hypertrichosis
Wikipedia
Hair disease characterized by hair growth that is abnormal in quantity or location "Werewolf syndrome" redirects here. It is not to be confused with Clinical lycanthropy . ... is one of the first people to be depicted with Ambras syndrome. [31] She was the only member of her family with the condition. ... Acquired Hypertrichosis: A Rare Paraneoplastic Syndrome in Various Cancers". Journal of Clinical Oncology . 24 (3): 523–524. doi : 10.1200/JCO.2005.01.2443 . ... "A hairy development in hypertrichosis: a brief review of Ambras syndrome" . Dermatology Online Journal . 13 (3): 8. PMID 18328202 . ^ "Babies develop 'werewolf syndrome' after medicine mix-up in Spain" .SLC29A3, KCNK4, SURF1, ABCC9, KMT2A, ARID1B, SLC25A24, TMEM94, TRAIP, HUWE1, SCO2, TWIST2, GNA14, PUF60, MTFMT, ARID1A, USP9X, BCS1L, UROS, TP53, GJB4, TLK2, PET100, RAB18, ABCA5, COG7, NDUFAF3, SETBP1, NDUFA13, TACO1, LIPT1, RNF125, FOXRED1, NDUFA12, IRF2BPL, NDUFAF5, SRD5A3, SLC19A3, NUS1, VPS37A, SOX11, GLB1, NAGLU, MAN2B1, LTBP3, KCNJ11, INSR, IDS, HNRNPK, GATA1, NDUFA4, ECHS1, NDUFS7, CPOX, COX15, COX10, CTSC, BLM, NDUFAF6, NDUFA2, NDUFA9, NDUFS8, SMO, SMARCB1, SMARCA4, SDHA, ASXL1, PDHA1, NDUFA10, NDUFV2, NDUFS4, NDUFV1, NDUFS3, NDUFS2, NDUFS1, NDUFB8, NDUFAF2, TRPS1, ARID2, SFXN1, ACACA, HPGDS, CASP14, BMS1, MED23, TCF12, ABCC8, SOX9, PTGDS, EGFR, CYP21A2, VEGFA
-
Vertebral Artery Dissection
Wikipedia
Vertebral artery dissection Other names Vertebral dissection Arteries of the neck, with arrows indicating the right vertebral artery Specialty Cardiology Symptoms Headache , difficulty speaking , difficulty swallowing , poor coordination Complications Stroke , subarachnoid hemorrhage Causes Trauma, Ehler's Danlos syndrome , Marfan syndrome Diagnostic method Computed tomography angiography , magnetic resonance angiography , invasive angiography Treatment Anticoagulation , angioplasty , surgery Medication Aspirin , heparin , warfarin Frequency 1.1 per 100,000 Vertebral artery dissection ( VAD ) is a flap-like tear of the inner lining of the vertebral artery , which is located in the neck and supplies blood to the brain . ... Problems may include difficulty speaking or swallowing ( lateral medullary syndrome ); this occurs in less than a fifth of cases and occurs due to dysfunction of the brainstem . ... This may be explained by the fact that the arterial wall is thinner and lacks a number of structural supports in this section. [1] [3] [12] Diagnosis [ edit ] Magnetic resonance angiogram of the neck vessels in a person with Ehlers-Danlos syndrome type IV; it shows a dissection of the left internal carotid artery, dissection of both vertebral arteries in their V1 and V2 segments and a dissection of the middle and distal third of the right subclavian artery. Such striking episodes of dissection are typical for this "vascular" subtype of Ehlers-Danlos syndrome. Various diagnostic modalities exist to demonstrate blood flow or absence thereof in the vertebral arteries. ... PMID 19099146 . ^ a b Callewaert B, Malfait F, Loeys B, De Paepe A (March 2008). "Ehlers-Danlos syndromes and Marfan syndrome". Best Pract Res Clin Rheumatol . 22 (1): 165–89. doi : 10.1016/j.berh.2007.12.005 .
-
Complement Deficiency
Wikipedia
External links [ edit ] Classification D ICD - 10 : D84.1 ICD - 9-CM : 279.8 OMIM : 217000 120820 , 120900 , 610102 DiseasesDB : 1847 External resources eMedicine : med/419 ped/447 Scholia has a topic profile for Complement deficiency . v t e Lymphoid and complement disorders causing immunodeficiency Primary Antibody / humoral ( B ) Hypogammaglobulinemia X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome ( 1 2 3 4 5 ) Wiskott–Aldrich syndrome Hyper-IgE syndrome Other Common variable immunodeficiency ICF syndrome T cell deficiency ( T ) thymic hypoplasia : hypoparathyroid ( Di George's syndrome ) euparathyroid ( Nezelof syndrome Ataxia–telangiectasia ) peripheral: Purine nucleoside phosphorylase deficiency Hyper IgM syndrome ( 1 ) Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency Omenn syndrome ZAP70 deficiency Bare lymphocyte syndrome Acquired HIV/AIDS Leukopenia : Lymphocytopenia Idiopathic CD4+ lymphocytopenia Complement deficiency C1-inhibitor ( Angioedema / Hereditary angioedema ) Complement 2 deficiency / Complement 4 deficiency MBL deficiency Properdin deficiency Complement 3 deficiency Terminal complement pathway deficiency Paroxysmal nocturnal hemoglobinuria Complement receptor deficiency v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline
-
Distributive Shock
Wikipedia
Anaphylactic shock Septic shock Shock due to adrenal crisis Causes [ edit ] In addition to sepsis, distributive shock can be caused by systemic inflammatory response syndrome (SIRS) due to conditions other than infection such as pancreatitis , burns or trauma . [3] Other causes include, toxic shock syndrome (TSS), anaphylaxis (a sudden, severe allergic reaction), adrenal insufficiency , reactions to drugs or toxins , heavy metal poisoning, hepatic ( liver ) insufficiency and damage to the central nervous system . [3] Causes of adrenal insufficiency leading to distributive shock include acute worsening of chronic adrenal insufficiency, destruction or removal of the adrenal glands, suppression of adrenal gland function due to exogenous steroids, hypopituitarism and metabolic failure of hormone production. [3] Pathophysiology [ edit ] The cause of inadequate tissue perfusion (blood delivery to tissues) in distributive shock is a lack of normal responsiveness of blood vessels to vasoconstrictive agents and direct vasodilation . [4] There are four types of distributive shock. ... External links [ edit ] Surviving Sepsis Campaign v t e Shock Distributive Septic shock Neurogenic shock Anaphylactic shock Toxic shock syndrome Obstructive Abdominal compartment syndrome Low volume Hemorrhage Hypovolemia Osmotic shock Other Spinal shock Cryptic shock Vasodilatory shock v t e Intensive care medicine Health science Medicine Medical specialities Respiratory therapy General terms Intensive care unit (ICU) Neonatal intensive care unit (NICU) Pediatric intensive care unit (PICU) Coronary care unit (CCU) Critical illness insurance Conditions Organ system failure Shock sequence SIRS Sepsis Severe sepsis Septic shock Multiple organ dysfunction syndrome Other shock Cardiogenic shock Distributive shock Anaphylaxis Obstructive shock Neurogenic shock Spinal shock Vasodilatory shock Organ failure Acute renal failure Acute respiratory distress syndrome Acute liver failure Respiratory failure Multiple organ dysfunction syndrome Neonatal infection Polytrauma Coma Complications Critical illness polyneuropathy / myopathy Critical illness–related corticosteroid insufficiency Decubitus ulcers Fungemia Stress hyperglycemia Stress ulcer Iatrogenesis Methicillin-resistant Staphylococcus aureus Oxygen toxicity Refeeding syndrome Ventilator-associated lung injury Ventilator-associated pneumonia Dialytrauma Diagnosis Arterial blood gas Catheter Arterial line Central venous catheter Pulmonary artery catheter Blood cultures Screening cultures Life-supporting treatments Airway management Chest tube Dialysis Enteral feeding Goal-directed therapy Induced coma Mechanical ventilation Therapeutic hypothermia Total parenteral nutrition Tracheal intubation Drugs Analgesics Antibiotics Antithrombotics Inotropes Intravenous fluids Neuromuscular-blocking drugs Recombinant activated protein C Sedatives Stress ulcer prevention drugs Vasopressors ICU scoring systems APACHE II Glasgow Coma Scale PIM2 SAPS II SAPS III SOFA Physiology Hemodynamics Hypotension Level of consciousness Acid–base imbalance Water-electrolyte imbalance Organisations Society of Critical Care Medicine Surviving Sepsis Campaign European Society of Paediatric and Neonatal Intensive Care Related specialties Anesthesiology Cardiology Internal medicine Neurology Pediatrics Pulmonology Surgery Traumatology v t e Symptoms and signs relating to the circulatory system Chest pain Referred pain Angina Levine's sign Auscultation Heart sounds Split S2 S3 S4 Gallop rhythm Heart murmur Systolic Functional murmur Still's murmur Diastolic Pulmonary insufficiency Graham Steell murmur Continuous Carey Coombs murmur Mitral insufficiency Presystolic murmur Pericardial friction rub Heart click Bruit carotid Pulse Tachycardia Bradycardia Pulsus paradoxus doubled Pulsus bisferiens Pulsus bigeminus Pulsus alternans Other Palpitations Apex beat Cœur en sabot Jugular venous pressure Cannon A waves Hyperaemia Shock Cardiogenic Obstructive Hypovolemic Distributive See further Template:Shock Cardiovascular disease Aortic insufficiency Collapsing pulse De Musset's sign Duroziez's sign Müller's sign Austin Flint murmur Mayne's sign Other endocardium endocarditis : Roth's spot Janeway lesion / Osler's node Bracht–Wachter bodies Pericardium Cardiac tamponade / Pericardial effusion : Beck's triad Ewart's sign Other rheumatic fever : Anitschkow cell Aschoff body EKG J wave Gallavardin phenomenon Vascular disease Arterial aortic aneurysm Cardarelli's sign Oliver's sign pulmonary embolism Right heart strain radial artery sufficiency Allen's test pseudohypertension thrombus Lines of Zahn Adson's sign arteriovenous fistula Nicoladoni sign Venous Friedreich's sign Caput medusae Kussmaul's sign Trendelenburg test superior vena cava syndrome Pemberton's sign
-
Atrioventricular Block
Wikipedia
. ^ a b c Knabben, Vinicius; Chhabra, Lovely; Slane, Matthew (2019), "Third-Degree Atrioventricular Block" , StatPearls , StatPearls Publishing, PMID 31424783 , retrieved 2019-11-12 External links [ edit ] Classification D ICD - 10 : I44.0 - I44.3 ICD - 9-CM : 426.0 - 426.1 MeSH : D054537 SNOMED CT : 233917008 External resources eMedicine : med/189 Second-Degree Atrioventricular Block at eMedicine 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 feverLMNA, GNAI2, SCN5A, KCNH2, DES, KCNQ1, PRKAG2, TRPM4, TTN, ACADVL, MTM1, KCNJ5, MMP2, AGXT, SCN4B, MYBPC3, TTR, BVES, SYNE2, SYNE1, TMEM43, KCNJ2, MMP14, CACNA2D1, GLA, GPX4, FHL1, EMD, SLC25A20, NKX2-5, CALR, TDP2, ARSD, TBX5, TRIM21, ARFGEF1, GJC1, TOPORS, ITGAM, SDS, PKD2L1, CACNA1C, SMUG1, RHOA, APRT, ARID2, HCN4, TBX6, CALCR, TBX3, SSB, SLC6A8, SCN10A, CAV1, PKD2, PITX2, CUX1, FLT4, MFAP1, GATA4, KRT5, GNB2, MIR19B1
-
Allergies In Children
Wikipedia
PMID 11427385 . v t e Diseases of the respiratory system Upper RT (including URTIs , common cold ) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT / lung disease (including LRTIs ) Bronchial / obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD ) Asthma ( Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial / restrictive ( fibrosis ) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other ARDS Combined pulmonary fibrosis and emphysema Pulmonary edema Löffler's syndrome / Eosinophilic pneumonia Respiratory hypersensitivity Allergic bronchopulmonary aspergillosis Hamman-Rich syndrome Idiopathic pulmonary fibrosis Sarcoidosis Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia / pneumonitis By pathogen Viral Bacterial Pneumococcal Klebsiella Atypical bacterial Mycoplasma Legionnaires' disease Chlamydiae Fungal Pneumocystis Parasitic noninfectious Chemical / Mendelson's syndrome Aspiration / Lipid By vector/route Community-acquired Healthcare-associated Hospital-acquired By distribution Broncho- Lobar IIP UIP DIP BOOP-COP NSIP RB Other Atelectasis circulatory Pulmonary hypertension Pulmonary embolism Lung abscess Pleural cavity / mediastinum Pleural disease Pleuritis/pleurisy Pneumothorax / Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease Mediastinitis Mediastinal emphysema Other/general Respiratory failure Influenza Common cold SARS Coronavirus disease 2019 Idiopathic pulmonary haemosiderosis Pulmonary alveolar proteinosis v t e Respiratory physiology Respiration breath inhalation exhalation obligate nasal breathing respiratory rate respirometer pulmonary surfactant compliance elastic recoil hysteresivity airway resistance bronchial hyperresponsiveness constriction dilatation mechanical ventilation Control pons pneumotaxic center apneustic center medulla dorsal respiratory group ventral respiratory group chemoreceptors central peripheral pulmonary stretch receptors Hering–Breuer reflex Lung volumes VC FRC Vt dead space CC PEF calculations respiratory minute volume FEV1/FVC ratio Lung function tests spirometry body plethysmography peak flow meter nitrogen washout Circulation pulmonary circulation hypoxic pulmonary vasoconstriction pulmonary shunt Interactions ventilation (V) Perfusion (Q) Ventilation/perfusion ratio V/Q scan zones of the lung gas exchange pulmonary gas pressures alveolar gas equation alveolar–arterial gradient hemoglobin oxygen–hemoglobin dissociation curve ( Oxygen saturation 2,3-BPG Bohr effect Haldane effect ) carbonic anhydrase ( chloride shift ) oxyhemoglobin respiratory quotient arterial blood gas diffusion capacity ( DLCO ) Insufficiency high altitude death zone oxygen toxicity hypoxia v t e Allergic conditions Respiratory system Allergic rhinitis (hay fever) Asthma Hypersensitivity pneumonitis Eosinophilic pneumonia Eosinophilic granulomatosis with polyangiitis Allergic bronchopulmonary aspergillosis Farmer's lung Laboratory animal allergy Skin Angioedema Urticaria Atopic dermatitis Allergic contact dermatitis Hypersensitivity vasculitis Blood and immune system Serum sickness Circulatory system Anaphylaxis Digestive system Coeliac disease Eosinophilic gastroenteritis Eosinophilic esophagitis Food allergy Egg allergy Milk intolerance Nervous system Eosinophilic meningitis Genitourinary system Acute interstitial nephritis Other conditions Drug allergy Allergic conjunctivitis Latex allergy v t e Hypersensitivity and autoimmune diseases Type I / allergy / atopy ( IgE ) Foreign Atopic eczema Allergic urticaria Allergic rhinitis (Hay fever) Allergic asthma Anaphylaxis Food allergy common allergies include: Milk Egg Peanut Tree nut Seafood Soy Wheat Penicillin allergy Autoimmune Eosinophilic esophagitis Type II / ADCC IgM IgG Foreign Hemolytic disease of the newborn Autoimmune Cytotoxic Autoimmune hemolytic anemia Immune thrombocytopenic purpura Bullous pemphigoid Pemphigus vulgaris Rheumatic fever Goodpasture syndrome Guillain–Barré syndrome " Type V "/ receptor Graves' disease Myasthenia gravis Pernicious anemia Type III ( Immune complex ) Foreign Henoch–Schönlein purpura Hypersensitivity vasculitis Reactive arthritis Farmer's lung Post-streptococcal glomerulonephritis Serum sickness Arthus reaction Autoimmune Systemic lupus erythematosus Subacute bacterial endocarditis Rheumatoid arthritis Type IV / cell-mediated ( T cells ) Foreign Allergic contact dermatitis Mantoux test Autoimmune Diabetes mellitus type 1 Hashimoto's thyroiditis Multiple sclerosis Coeliac disease Giant-cell arteritis Postorgasmic illness syndrome Reactive arthritis GVHD Transfusion-associated graft versus host disease Unknown/ multiple Foreign Hypersensitivity pneumonitis Allergic bronchopulmonary aspergillosis Transplant rejection Latex allergy (I+IV) Autoimmune Sjögren syndrome Autoimmune hepatitis Autoimmune polyendocrine syndrome APS1 APS2 Autoimmune adrenalitis Systemic autoimmune disease
-
Autoimmune Hypophysitis
Wikipedia
External links [ edit ] Classification D ICD - 10 : E23.6 MeSH : D000069281 DiseasesDB : 34426 SNOMED CT : 237706000 External resources Orphanet : 95506 v t e Pituitary disease Hyperpituitarism Anterior Acromegaly Hyperprolactinaemia Pituitary ACTH hypersecretion Posterior SIADH General Nelson's syndrome Hypophysitis Hypopituitarism Anterior Kallmann syndrome Growth hormone deficiency Hypoprolactinemia ACTH deficiency / Secondary adrenal insufficiency GnRH insensitivity FSH insensitivity LH/hCG insensitivity Posterior Neurogenic diabetes insipidus General Empty sella syndrome Pituitary apoplexy Sheehan's syndrome Lymphocytic hypophysitis Pituitary adenoma v t e Hypersensitivity and autoimmune diseases Type I / allergy / atopy ( IgE ) Foreign Atopic eczema Allergic urticaria Allergic rhinitis (Hay fever) Allergic asthma Anaphylaxis Food allergy common allergies include: Milk Egg Peanut Tree nut Seafood Soy Wheat Penicillin allergy Autoimmune Eosinophilic esophagitis Type II / ADCC IgM IgG Foreign Hemolytic disease of the newborn Autoimmune Cytotoxic Autoimmune hemolytic anemia Immune thrombocytopenic purpura Bullous pemphigoid Pemphigus vulgaris Rheumatic fever Goodpasture syndrome Guillain–Barré syndrome " Type V "/ receptor Graves' disease Myasthenia gravis Pernicious anemia Type III ( Immune complex ) Foreign Henoch–Schönlein purpura Hypersensitivity vasculitis Reactive arthritis Farmer's lung Post-streptococcal glomerulonephritis Serum sickness Arthus reaction Autoimmune Systemic lupus erythematosus Subacute bacterial endocarditis Rheumatoid arthritis Type IV / cell-mediated ( T cells ) Foreign Allergic contact dermatitis Mantoux test Autoimmune Diabetes mellitus type 1 Hashimoto's thyroiditis Multiple sclerosis Coeliac disease Giant-cell arteritis Postorgasmic illness syndrome Reactive arthritis GVHD Transfusion-associated graft versus host disease Unknown/ multiple Foreign Hypersensitivity pneumonitis Allergic bronchopulmonary aspergillosis Transplant rejection Latex allergy (I+IV) Autoimmune Sjögren syndrome Autoimmune hepatitis Autoimmune polyendocrine syndrome APS1 APS2 Autoimmune adrenalitis Systemic autoimmune disease
-
Tricuspid Insufficiency
Wikipedia
External links [ edit ] Classification D ICD - 10 : I07.1 , I36.1 , Q22.8 ICD - 9-CM : 397.0 MeSH : D014262 External resources MedlinePlus : 000169 eMedicine : med/2314 Scholia has a topic profile for Tricuspid insufficiency . 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 v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal OutlinePTPN11, ALPK3, NRXN1, TAB2, CNTNAP2, SDHD, RAD21, ATP6V1E1, PRKAR1A, SLC25A24, PLD1, NDUFB11, NONO, MYH11, DLL4, NCAPG2, NDE1, DVL3, FLNA, ATRX, CLIC2, COX7B, DAXX, DNMT3A, FBN1, CHST3, HADHA, HADHB, HCCS, HEPHL1, ASAP1, MTPAP, PTPN22, LOC102724197, MRPS30, TUSC2, PDAP1, PAPOLA, MUC16, GGTLC1, ACP3, ASAP2, LRPAP1, CRP, HMOX1, HP, IFNG, IL1B, IL6, LPA, COX2, TRV-AAC1-4, PAEP, REG3A, PREP, PTGS2, SRSF2, TNFRSF1A, TRI-AAT9-1, MTCO2P12
-
Encephalopathy
Wikipedia
Find sources: "Encephalopathy" – news · newspapers · books · scholar · JSTOR ( March 2008 ) ( Learn how and when to remove this template message ) Encephalopathy Specialty Neurology Encephalopathy ( / ɛ n ˌ s ɛ f ə ˈ l ɒ p ə θ i / ; from Ancient Greek : ἐνκέφαλος "brain" + πάθος "suffering") means any disorder or disease of the brain , especially chronic degenerative conditions. [1] In modern usage, encephalopathy does not refer to a single disease, but rather to a syndrome of overall brain dysfunction; this syndrome has many possible organic and inorganic causes. ... Focal neurological deficits are less common. [3] Wernicke encephalopathy can co-occur with Korsakoff alcoholic syndrome , characterized by amnestic-confabulatory syndrome: retrograde amnesia , anterograde amnesia , confabulations (invented memories), poor recall and disorientation. [4] Anti-NMDA receptor encephalitis is the most common autoimmune encephalitis. ... Migraine is the most common symptom reported. [7] Toxicity from chemotherapy [ edit ] Chemotherapy medication, for example, fludarabine can cause a permanent severe global encephalopathy. [8] Ifosfamide can cause a severe encephalopathy (but it can be reversible with stopping use of the drug and starting the use of methylene blue ). [8] Bevacizumab and other anti–vascular endothelial growth factor medication can cause posterior reversible encephalopathy syndrome. [8] Diagnosis [ edit ] Blood tests , cerebrospinal fluid examination by lumbar puncture (also known as spinal tap), brain imaging studies, electroencephalography (EEG), and similar diagnostic studies may be used to differentiate the various causes of encephalopathy. ... See also [ edit ] Brain damage Neuroscience Neurological disorder Psychoorganic syndrome References [ edit ] ^ The British Medical Association (BMA) (2002). ... External links [ edit ] Classification D ICD - 10 : G93.4 ICD - 9-CM : 348.30 MeSH : D001927 v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis v t e Organ failure General Heart failure Respiratory failure Liver failure Acute Chronic Renal failure Acute Chronic Encephalopathy Multiple Multiple organ dysfunction syndromeTGFB1, KCNQ2, TH, ALB, SCO1, OTC, APP, TSC1, ATP1A2, TYMS, NOTCH3, SLC6A5, CYP2A6, STAMBP, MPO, MAT1A, CTC1, LAMC3, RNASET2, CDK5R1, IFNB1, CP, IFNG, OGG1, TREX1, TSC2, SLC1A1, PRNP, PTEN, TJP1, MECP2, STXBP1, SCN1A, SLC19A3, TBCD, SCN8A, BSCL2, CPT2, ATP1A3, DNM1L, SLC2A1, WWOX, CHD2, SZT2, CACNA1A, UBA5, NDUFS4, LIAS, ITPA, SLC1A2, GABRB3, NDUFV2, GPT2, LYRM7, SERPINI1, TSFM, TBCE, ETHE1, PARS2, ND5, CLPB, SLC13A5, NDUFS1, SLC25A20, GABRG2, TUFM, ATP6V1A, TRNL1, TRAPPC12, YWHAG, KCNA2, FBXL4, KCNB1, ASNS, TRAK1, CNKSR2, DGUOK, CUX2, NDUFAF2, TBCK, DNM1, ATAD1, IBA57, ND1, NDUFS3, NDUFV1, NDUFS2, CYC1, NDUFB10, COX1, NDUFB9, NDUFB3, NDUFA6, NDUFA1, ND2, COX2, COQ9, ND3, TRNW, TRNV, TRNS2, TRNS1, TRNQ, NDUFS6, TRNF, COX3, CYTB, ND6, CACNA1B, NAXD, NDUFS8, SLC6A9, TRIT1, NDUFS7, UGT1A1, AMT, LIPT2, NDUFB11, TIMMDC1, ACAD9, SLC25A1, SLC22A5, CDKL5, ACY1, ACTL6B, AARS1, SCN3A, TMEM70, RANBP2, NDUFAF1, ATP5F1A, ATP5F1D, HCN1, MAPK10, PPP3CA, PNPO, FOXRED1, CLP1, TMEM126B, TWNK, NDUFAF4, AMACR, NTRK2, MST1, TRNC, TRNK, HIBCH, FGF12, DHDDS, SYNJ1, CLTC, HMGCL, COG8, NUBPL, NADK2, GRIN2D, RNASEH2C, EEF1A2, CYFIP2, GPR35, KYNU, COX15, GABRB2, GLYCTK, GLUL, GLDC, GBA, GCSH, TCF4, SIK1, RNASEH2B, AP3B2, NUS1, NDUFAF3, NDUFA11, TIMM50, COQ2, ACSF3, DLD, FADD, NAXE, GCDH, ARV1, SERAC1, SLC35A1, NECAP1, SUCLG1, SYNGAP1, NAGS, NDUFAF5, SCN2A, FOXG1, IL6, TNF, GFAP, GNAO1, ARX, GRIN1, POLG, F2, GABRA1, WDR45, SAMHD1, PCDH19, SMC1A, IQSEC2, CASR, KCNT1, LAMC2, ABCB6, RARS2, ITIH4, CSF2, VEGFA, EIF2B1, SPTAN1, CCL2, MOG, PIGA, NFU1, EIF2B4, EIF2B2, GRIN2B, FARS2, GRIN2A, EIF2S2, MTOR, PPARGC1A, PRDX2, CXXC1, ERVW-1, TPK1, CLDN10, TRIM13, COQ4, FRRS1L, SCO2, TARDBP, NR1I3, TK2, ERVK-20, UFM1, ARR3, CARD14, IL10, TANGO2, GSTM1, GPT, ERVK-6, CXADR, BRAT1, NALCN, GCH1, C4BPA, BCS1L, MFF, ASS1, APOE, TTC19, STX2, SPG7, ATP8A2, FH, CCR2, CXADRP1, PGAP1, RMND1, GFM1, PRRT2, PRKAR1A, PPT1, ISCA2, CYP2R1, STX1B, RTN4IP1, PRND, RTP1, HT, SPATA5, CNTNAP2, STON1-GTF2A1L, KCNT2, SLC26A5, IGLON5, NEDD4L, C20orf181, LINC01672, GTPBP3, PARP9, PHGDH, RHOBTB2, PIGT, BCL11A, PDP1, AHI1, TESC, MTPAP, SEPSECS, ATAD3A, KCNQ5, PSAT1, SLC2A4RG, HPGDS, COQ8A, APEX2, NTNG2, VARS2, AARS2, EPG5, IFIH1, IRF2BPL, PINK1, TARS2, C19orf12, LIPT1, SETDB2, ATAD3B, SLA2, FGF21, PLCB1, A2M, NCDN, EPO, GABRA3, FRA16D, FXN, FOLR1, FGG, ETFA, EEF1A1, LRCH1, EDA, DPT, DNMT3A, DYNC1H1, DNAH8, DLG3, GABRA5, GOT2, GSTM2, HLA-B, HMBS, HMGB1, IDH3A, IFNA1, IFNA13, IL1A, IL1B, CXCL8, CXCR2, IL17A, KCNC1, KCNQ3, LAMP2, CYB5R3, DHCR7, ACE, CASP3, ACHE, ADORA2A, AFM, AFP, ALK, ALPL, ANGPT1, ANGPT2, ATP5F1E, BCHE, BRAF, VPS51, MYRF, CA2, CAV1, CYP2B6, CD68, CEL, TPP1, CLN3, CLN5, CCR3, COX10, CPOX, CSF1R, CSF3, CSNK1E, CTLA4, CYBB, CYLD, SMAD3, MARS1, MBP, ADGRG1, TNFRSF1A, TTR, TWIST1, UCN, SLC35A2, UGP2, VARS1, VDR, NUP214, PDHX, CUL4B, AIFM1, ARHGEF2, LGI1, NRXN3, TLR4, ABCG2, HAND2, BAG3, CST8, BCAP31, SLC25A13, SLC25A15, TUBB4A, GNB5, GJB6, SLC27A5, GTF2A1L, STON1, NTNG1, TM7SF2, TLR3, MDH1, PTPRC, MEF2C, MPV17, MTR, MTX1, MUC1, NEFL, OPA1, SERPINE1, PRKN, ABCB1, SERPINA1, PLXNA1, POMC, PPARA, PURA, ADAM17, RAD51, PLAAT4, S100A1, S100B, SCN4A, CCL4, SDHA, SLC6A1, SLC12A3, NAT2, SOX10, SST, STX1A, SURF1, SNCA
-
Cystinuria
Wikipedia
External links [ edit ] Classification D ICD - 10 : E72.0 ICD - 9-CM : 270.0 OMIM : 220100 MeSH : D003555 DiseasesDB : 3339 External resources MedlinePlus : 000346 eMedicine : med/498 v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria v t e Genetic disorder , membrane: Solute carrier disorders 1-10 SLC1A3 Episodic ataxia 6 SLC2A1 De Vivo disease SLC2A5 Fructose malabsorption SLC2A10 Arterial tortuosity syndrome SLC3A1 Cystinuria SLC4A1 Hereditary spherocytosis 4 / Hereditary elliptocytosis 4 SLC4A11 Congenital endothelial dystrophy type 2 Fuchs' dystrophy 4 SLC5A1 Glucose-galactose malabsorption SLC5A2 Renal glycosuria SLC5A5 Thyroid dyshormonogenesis type 1 SLC6A19 Hartnup disease SLC7A7 Lysinuric protein intolerance SLC7A9 Cystinuria 11-20 SLC11A1 Crohn's disease SLC12A3 Gitelman syndrome SLC16A1 HHF7 SLC16A2 Allan–Herndon–Dudley syndrome SLC17A5 Salla disease SLC17A8 DFNA25 21-40 SLC26A2 Multiple epiphyseal dysplasia 4 Achondrogenesis type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia SLC26A4 Pendred syndrome SLC35C1 CDOG 2C SLC39A4 Acrodermatitis enteropathica SLC40A1 African iron overload see also solute carrier family