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Nonallergic Rhinitis
Wikipedia
. ^ Raphael G, Raphael MH, Kaliner M (January 1989). "Gustatory rhinitis: a syndrome of food-induced rhinorrhea" . The Journal of Allergy and Clinical Immunology . 83 (1): 110–5. doi : 10.1016/0091-6749(89)90484-3 . ... S2CID 23292869 . 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
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Perinatal Asphyxia
Wikipedia
External links [ edit ] Classification D ICD - 10 : P21 ICD - 9-CM : 768 MeSH : D001238 DiseasesDB : 1416 External resources eMedicine : ped/149 v t e Conditions originating in the perinatal period / fetal disease Maternal factors complicating pregnancy, labour or delivery placenta Placenta praevia Placental insufficiency Twin-to-twin transfusion syndrome chorion / amnion Chorioamnionitis umbilical cord Umbilical cord prolapse Nuchal cord Single umbilical artery presentation Breech birth Asynclitism Shoulder presentation Growth Small for gestational age / Large for gestational age Preterm birth / Postterm pregnancy Intrauterine growth restriction Birth trauma scalp Cephalohematoma Chignon Caput succedaneum Subgaleal hemorrhage Brachial plexus injury Erb's palsy Klumpke paralysis Affected systems Respiratory Intrauterine hypoxia Infant respiratory distress syndrome Transient tachypnea of the newborn Meconium aspiration syndrome Pleural disease Pneumothorax Pneumomediastinum Wilson–Mikity syndrome Bronchopulmonary dysplasia Cardiovascular Pneumopericardium Persistent fetal circulation Bleeding and hematologic disease Vitamin K deficiency bleeding HDN ABO Anti-Kell Rh c Rh D Rh E Hydrops fetalis Hyperbilirubinemia Kernicterus Neonatal jaundice Velamentous cord insertion Intraventricular hemorrhage Germinal matrix hemorrhage Anemia of prematurity Gastrointestinal Ileus Necrotizing enterocolitis Meconium peritonitis Integument and thermoregulation Erythema toxicum Sclerema neonatorum Nervous system Perinatal asphyxia Periventricular leukomalacia Musculoskeletal Gray baby syndrome muscle tone Congenital hypertonia Congenital hypotonia Infections Vertically transmitted infection Neonatal infection rubella herpes simplex mycoplasma hominis ureaplasma urealyticum Omphalitis Neonatal sepsis Group B streptococcal infection Neonatal conjunctivitis Other Miscarriage Perinatal mortality Stillbirth Infant mortality Neonatal withdrawal
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Prepatellar Bursitis
Wikipedia
The trauma can cause extravasation of nearby fluids into the bursa, which stimulates an inflammatory response. [2] This response occurs in two phases: The vascular phase, in which the blood flow to the surrounding area increases, and the cellular phase, in which leukocytes migrate from the blood to the affected area. [7] : p. 22 Other possible causes include gout , sarcoidosis , CREST syndrome , [6] : p. 359 diabetes mellitus , alcohol abuse , uremia , and chronic obstructive pulmonary disease . [7] : p. 22 Some cases are idiopathic , though these may be caused by trauma that the patient does not remember. [5] : pp. 607–8 The prepatellar bursa and the olecranon bursa are the two bursae that are most likely to become infected, or septic . [10] Septic bursitis typically occurs when the trauma to the knee causes an abrasion , though it is also possible for the infection to be caused by bacteria traveling through the blood from a pre-existing infection site. [11] In approximately 80% of septic cases, the infection is caused by Staphylococcus aureus ; other common infections are Streptococcus , Mycobacterium , and Brucella . [6] : p. 359 It is highly unusual for septic bursitis to be caused by anaerobes , fungi , or Gram-negative bacteria . [5] : p. 608 In very rare cases, the infection can be caused by tuberculosis . [12] Diagnosis [ edit ] There are several types of inflammation that can cause knee pain , including sprains , bursitis, and injuries to the meniscus . [9] A diagnosis of prepatellar bursitis can be made based on a physical examination and the presence of risk factors in the person's medical history ; swelling and tenderness at the front of the knee, combined with a profession that requires frequent kneeling, suggest prepatellar bursitis. [2] Swelling of multiple joints along with restricted range of motion may indicate arthritis instead. [5] : p. 608 A physical examination and medical history are generally not enough to distinguish between infectious and non-infectious bursitis; aspiration of the bursal fluid is often required for this, along with a cell culture and Gram stain of the aspirated fluid. [6] : p. 360 Septic prepatellar bursitis may be diagnosed if the fluid is found to have a neutrophil count above 1500 per microliter , [5] : p. 608 a threshold significantly lower than that of septic arthritis (50,000 cells per microliter). [6] : p. 360 A tuberculosis infection can be confirmed using a radiograph of the knee and urinalysis . [12] Prevention [ edit ] It is possible to prevent the onset of prepatellar bursitis, or prevent the symptoms from worsening, by avoiding trauma to the knee or frequent kneeling. [5] : p. 610 Protective knee pads can also help prevent prepatellar bursitis for those whose professions require frequent kneeling and for athletes who play contact sports , such as American football , basketball , and wrestling . [13] Treatment [ edit ] Non-septic prepatellar bursitis can be treated with rest, the application of ice to the affected area, and anti-inflammatory drugs , particularly ibuprofen . ... External links [ edit ] Classification D ICD - 10 : M70.4 ICD - 9-CM : 726.65 External resources Patient UK : Prepatellar bursitis v t e Soft tissue disorders Capsular joint Synoviopathy Synovitis / Tenosynovitis Calcific tendinitis Stenosing tenosynovitis Trigger finger De Quervain syndrome Transient synovitis Ganglion cyst osteochondromatosis Synovial osteochondromatosis Plica syndrome villonodular synovitis Giant-cell tumor of the tendon sheath Bursopathy Bursitis Olecranon Prepatellar Trochanteric Subacromial Achilles Retrocalcaneal Ischial Iliopsoas Synovial cyst Baker's cyst Calcific bursitis Noncapsular joint Symptoms Ligamentous laxity Hypermobility Enthesopathy / Enthesitis / Tendinopathy upper limb Adhesive capsulitis of shoulder Impingement syndrome Rotator cuff tear Golfer's elbow Tennis elbow lower limb Iliotibial band syndrome Patellar tendinitis Achilles tendinitis Calcaneal spur Metatarsalgia Bone spur other/general: Tendinitis / Tendinosis Nonjoint Fasciopathy Fasciitis : Plantar Nodular Necrotizing Eosinophilic Fibromatosis / contracture Dupuytren's contracture Plantar fibromatosis Aggressive fibromatosis Knuckle pads
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Small Fiber Peripheral Neuropathy
Wikipedia
Other causes of this condition include a metabolic disorder called Fabry disease, immune disorders such as celiac disease or Sjogren syndrome, an inflammatory condition called sarcoidosis, and human immunodeficiency virus (HIV) infection. [4] Recently several studies have suggested an association between autonomic small fiber neuropathy and postural orthostatic tachycardia syndrome . [5] Other notable studies have shown a link between erythromelalgia , [6] fibromyalgia , [7] and Ehlers-Danlos Syndrome . [8] Diagnosis [ edit ] The diagnosis of small fiber neuropathy often requires ancillary testing. [9] Nerve conduction studies and electromyography are commonly used to evaluate large myelinated sensory and motor nerve fibers, but are ineffective in diagnosing small fiber neuropathies. [10] Quantitative sensory testing (QST) assesses small fiber function by measuring temperature and vibratory sensation. ... For cases without those conditions, there is only symptomatic treatment. [14] See also [ edit ] Neuropathy Polyneuropathy Wartenbergs migratory sensory neuropathy Burning feet syndrome [15] References [ edit ] ^ Overview of Small Fiber Neuropathy . ... "Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes" . Neurology . 87 (2): 155–159. doi : 10.1212/WNL.0000000000002847 . eISSN 1526-632X .
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Pitted Keratolysis
Wikipedia
Pitted keratolysis Other names Keratolysis plantare sulcatum, Keratoma plantare sulcatum, Ringed keratolysis, [1] and sweaty sock syndrome [2] Right foot affected with pitted keratolysis Specialty Dermatology Symptoms Large, crater-like holes on the foot Causes Corynebacterium species and other bacteria Differential diagnosis Athlete's foot ( Tinea pedis ), erythrasma , hyperhidrosis Prevention Keeping the feet dry, antiperspirants Treatment Antibiotics Pitted keratolysis (also known as Keratolysis plantare sulcatum, [1] Keratoma plantare sulcatum, [1] and Ringed keratolysis [1] ) is a bacterial skin infection of the foot. [2] The infection is characterized by craterlike pits on the sole of the feet and toes, particularly weight bearing areas. ... External links [ edit ] Classification D ICD - 10 : L08.8 ( ILDS L08.850) DiseasesDB : 31346 v t e Bacterial skin disease Gram +ve Firmicutes Staphylococcus Staphylococcal scalded skin syndrome Impetigo Toxic shock syndrome Streptococcus Impetigo Cutaneous group B streptococcal infection Streptococcal intertrigo Cutaneous Streptococcus iniae infection Erysipelas / Chronic recurrent erysipelas Scarlet fever Corynebacterium Erythrasma Listeriosis Clostridium Gas gangrene Dermatitis gangrenosa Mycoplasma Erysipeloid of Rosenbach Actinobacteria Mycobacterium-related: Aquarium granuloma Borderline lepromatous leprosy Borderline leprosy Borderline tuberculoid leprosy Buruli ulcer Erythema induratum Histoid leprosy Lepromatous leprosy Leprosy Lichen scrofulosorum Lupus vulgaris Miliary tuberculosis Mycobacterium avium-intracellulare complex infection Mycobacterium haemophilum infection Mycobacterium kansasii infection Papulonecrotic tuberculid Primary inoculation tuberculosis Rapid growing mycobacterium infection Scrofuloderma Tuberculosis cutis orificialis Tuberculosis verrucosa cutis Tuberculous cellulitis Tuberculous gumma Tuberculoid leprosy Cutaneous actinomycosis Nocardiosis Cutaneous diphtheria infection Arcanobacterium haemolyticum infection Group JK corynebacterium sepsis Gram -ve Proteobacteria α: Endemic typhus Epidemic typhus Scrub typhus North Asian tick typhus Queensland tick typhus Flying squirrel typhus Trench fever Bacillary angiomatosis African tick bite fever American tick bite fever Rickettsia aeschlimannii infection Rickettsialpox Rocky Mountain spotted fever Human granulocytotropic anaplasmosis Human monocytotropic ehrlichiosis Flea-borne spotted fever Japanese spotted fever Mediterranean spotted fever Flinders Island spotted fever Verruga peruana Brill–Zinsser disease Brucellosis Cat-scratch disease Oroya fever Ehrlichiosis ewingii infection β: Gonococcemia / Gonorrhea / Primary gonococcal dermatitis Melioidosis Cutaneous Pasteurella hemolytica infection Meningococcemia Glanders Chromobacteriosis infection γ: Pasteurellosis Tularemia Vibrio vulnificus Rhinoscleroma Haemophilus influenzae cellulitis Pseudomonal pyoderma / Pseudomonas hot-foot syndrome / Hot tub folliculitis / Ecthyma gangrenosum / Green nail syndrome Q fever Salmonellosis Shigellosis Plague Granuloma inguinale Chancroid Aeromonas infection ε: Helicobacter cellulitis Other Syphilid Syphilis Chancre Yaws Pinta Bejel Chlamydia infection Leptospirosis Rat-bite fever Lyme disease Lymphogranuloma venereum Unspecified pathogen Abscess Periapical abscess Boil/furuncle Hospital furunculosis Carbuncle Cellulitis Paronychia / Pyogenic paronychia Perianal cellulitis Acute lymphadenitis Pilonidal cyst Pyoderma Folliculitis Superficial pustular folliculitis Sycosis vulgaris Pimple Ecthyma Pitted keratolysis Trichomycosis axillaris Necrotizing fascitis Gangrene Chronic undermining burrowing ulcers Fournier gangrene Elephantiasis nostras Blistering distal dactylitis Botryomycosis Malakoplakia Gram-negative folliculitis Gram-negative toe web infection Pyomyositis Blastomycosis-like pyoderma Bullous impetigo Chronic lymphangitis Recurrent toxin-mediated perineal erythema Tick-borne lymphadenopathy Tropical ulcer
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Usual Interstitial Pneumonia
Wikipedia
Since the medical term for conditions of unknown cause is "idiopathic", the clinical term for UIP of unknown cause is idiopathic pulmonary fibrosis (IPF). [2] Examples of known causes of UIP include connective tissue diseases (primarily rheumatoid arthritis ), drug toxicity, chronic hypersensitivity pneumonitis , asbestosis and Hermansky–Pudlak syndrome . [2] Diagnosis [ edit ] Usual interstitial pneumonia seen on CT scan. ... External links [ edit ] Classification D ICD - 10 : J84.1 ICD - 9-CM : 515 DiseasesDB : 4815 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 proteinosisSFTPC, WNT5A, MUC5B, ESR1, STAT3, SFTPA2, MMP3, PLAU, FAM13A, ATP11A, HIF1A, GPER1, TERT, TERC, PARN, DSP, RTEL1, STN1, DPP9, CCL2, CCR7, MPO, VEGFA, SPP1, CXCR4, SLC27A5, NR4A3, RGS6, PDPN, CCL21, CD274, ATL1, SLC2A10, PARP9, AZIN2, GADL1, CCL22, ABCA3, CCL7, CCL5, ASCL1, CCND1, CD34, CEL, COL1A2, COL4A5, DCN, DKC1, STX2, FOXF1, TNC, IL4, IL13, ADAM11, MMP2, SERPINE1, PGR, MAPK7, PRTN3, PTGS2, PTPRC, AR, S100A4, RASA1
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Borna Disease
Wikipedia
Borna disease viruses 1 and 2 Specialty Veterinary medicine Borna disease , also known as sad horse disease , [1] is an infectious neurological syndrome [2] of warm-blooded animals, caused by Borna disease viruses 1 and 2 (BoDV-1/2), both of which are members of the species Mammalian 1 orthobornavirus . ... "Borna disease virus antibodies and the deficit syndrome of schizophrenia" . Schizophr. ... External links [ edit ] Classification D ICD - 9-CM : 062.9 MeSH : D001890 DiseasesDB : 1529 v t e Zoonotic viral diseases (A80–B34, 042–079 ) Arthropod -borne Mosquito -borne Bunyavirales Arbovirus encephalitides : La Crosse encephalitis LACV Batai virus BATV Bwamba Fever BWAV California encephalitis CEV Jamestown Canyon encephalitis Tete virus Tahyna virus TAHV Viral hemorrhagic fevers : Rift Valley fever RVFV Bunyamwera fever BUNV Ngari virus NRIV Flaviviridae Arbovirus encephalitides : Japanese encephalitis JEV Australian encephalitis MVEV KUNV Saint Louis encephalitis SLEV Usutu virus West Nile fever WNV Viral hemorrhagic fevers : Dengue fever DENV-1-4 Yellow fever YFV Zika fever Zika virus Togaviridae Arbovirus encephalitides : Eastern equine encephalomyelitis EEEV Western equine encephalomyelitis WEEV Venezuelan equine encephalomyelitis VEEV Chikungunya CHIKV O'nyong'nyong fever ONNV Pogosta disease Sindbis virus Ross River fever RRV Semliki Forest virus Reoviridae Banna virus encephalitis Tick -borne Bunyavirales Viral hemorrhagic fevers : Bhanja virus Crimean–Congo hemorrhagic fever (CCHFV) Heartland virus Severe fever with thrombocytopenia syndrome ( Huaiyangshan banyangvirus ) Tete virus Flaviviridae Arbovirus encephalitides : Tick-borne encephalitis TBEV Powassan encephalitis POWV Viral hemorrhagic fevers : Omsk hemorrhagic fever OHFV Kyasanur Forest disease KFDV AHFV Langat virus LGTV Orthomyxoviridae Bourbon virus Reoviridae Colorado tick fever CTFV Kemerovo tickborne viral fever Sandfly -borne Bunyavirales Adria virus (ADRV) Oropouche fever Oropouche virus Pappataci fever Toscana virus Sandfly fever Naples virus Rhabdoviridae Chandipura virus Mammal -borne Rodent -borne Arenaviridae Viral hemorrhagic fevers : Lassa fever LASV Venezuelan hemorrhagic fever GTOV Argentine hemorrhagic fever JUNV Brazilian hemorrhagic fever SABV Bolivian hemorrhagic fever MACV LUJV CHPV Bunyavirales Hemorrhagic fever with renal syndrome DOBV HTNV PUUV SEOV AMRV THAIV Hantavirus pulmonary syndrome ANDV SNV Herpesviridae Murid gammaherpesvirus 4 Bat -borne Filoviridae BDBV SUDV TAFV Marburg virus disease MARV RAVV Rhabdoviridae Rabies ABLV MOKV DUVV LBV CHPV Paramyxoviridae Henipavirus encephalitis HeV NiV Coronaviridae SARS-related coronavirus SARS-CoV MERS-CoV SARS-CoV-2 Primate -borne Herpesviridae Macacine alphaherpesvirus 1 Retroviridae Simian foamy virus HTLV-1 HTLV-2 Poxviridae Tanapox Yaba monkey tumor virus Multiple vectors Rhabdoviridae Rabies RABV Mokola virus Poxviridae Monkeypox
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6-Pyruvoyltetrahydropterin Synthase Deficiency
Wikipedia
External links [ edit ] Classification D ICD - 10 : E70.1 OMIM : 261640 MeSH : C535325 External resources Orphanet : 13 Online Mendelian Inheritance in Man (OMIM): 261640 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 Metabolic disorders of vitamins , coenzymes, and cofactors B7 Biotin / MCD Biotinidase deficiency Holocarboxylase synthetase deficiency Other B B5 ( Pantothenate kinase-associated neurodegeneration ) B12 ( Methylmalonic acidemia ) Other vitamin Familial isolated vitamin E deficiency Nonvitamin cofactor Tetrahydrobiopterin deficiency Molybdenum cofactor deficiency This genetic disorder article is a stub .
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Deafness, X-Linked 2
Omim
See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the POU3F4 and CHM (300390) genes on Xq21; isolated choroideremia (303100) is caused by mutation in the CHM gene. ... Nance et al. (1970, 1971) observed a similar family of European extraction, indicating that this is a bona fide syndrome; in this family, hearing loss was of mixed type. The existence of this syndrome had been suggested by Olson and Lehman (1968). ... They also pointed out that their unlinked family lacked the findings in the temporal bone on CT scan described by Phelps et al. (1991) as typical of the gusher-deafness syndrome. Using probe pHU16, which defines the anonymous DNA site DXS26, Bach et al. (1992) found microdeletion in 2 of 13 unrelated male probands with this disorder. ... Both deletions were contained completely within 1 of the known DFN3 deletions, but 1 of them did not overlap with 2 previously described deletions in patients with contiguous gene syndromes consisting of DFN3, choroideremia, and mental retardation.
- Multicentric Reticulohistiocytosis Gard
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Sterile Multifocal Osteomyelitis With Periostitis And Pustulosis
Orphanet
Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies.
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Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Omim
Jammes et al. (1973) described 2 brothers with a new mental retardation syndrome characterized by macrocephaly, hypertelorism, downward slanted palpebral slits, protruding tongue, kyphoscoliosis, and marked difficulty walking.
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Brain Calcification, Rajab Type
Orphanet
The absence of progressive deterioration of the neurological functions is characteristic of the disease. Epidemiology The syndrome has been described in eight children from two interrelated families.
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Craniosynostosis, Boston Type
Orphanet
Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly.
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Sporadic Fetal Brain Disruption Sequence
Orphanet
Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment.
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Congenital Pseudoarthrosis Of The Limbs
Orphanet
Congenital pseudoarthrosis of the limbs is a rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures.
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Hypothalamic Hamartomas With Gelastic Seizures
Orphanet
Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas.
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Humeral Agenesis/hypoplasia
Orphanet
Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations.
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Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Orphanet
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability.
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Intermediate Isolated Anorectal Malformation
Orphanet
Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis).