{"orpha":97352,"name":"Pellagra","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97352/","orphanet_url":"https://www.orpha.net/en/disease/detail/97352","names":{"fr":{"name":"Pellagre","definition":"La pellagre est un trouble nutritionnel causé par une carence en niacine (vitamine B3) ou son précurseur (tryptophane), surtout observé en Asie et en Afrique où il est généralement dû à la malnutrition. Elle est caractérisée par une dermatite (érythème symétrique dans les zones exposées à la lumière pouvant s'accompagner de vésicules et de bulles, et qui se développe en peau hyperkératotique et hyperpigmentée), des symptômes gastrointestinaux (diarrhée) et des troubles neuropsychiatriques (démence). La pellagre peut mettre en jeu le pronostic vital en l'absence d'une prise en charge appropriée."},"de":{"name":"Pellagra","definition":"Die Pellagra ist eine ernährungsbedingte Störung, verursacht durch Mangel an Niacin (Vitamin B3) oder seiner Vorstufe (Tryptophan), die hauptsächlich in Asien und Afrika auftritt und durch ungenügende Ernährung verursacht wird. Die Krankheit ist gekennzeichnet durch Dermatitis (symmetrisches lichtabhängiges Erythem, evtl. mit Bläschen und Blasen, das in hyperkeratotische und hyperpigmentierte Haut übergehen kann.), gastrointestinale Symptome (Diarrhoe) und neuropsychiatrische Störungen (Demenz). Sie ist ohne korrekte Behandlung lebensbedrohlich."},"es":{"name":"Pelagra","definition":"La pelagra es un trastorno nutricional causado por un déficit de niacina (vitamina B3) o su precursor (triptófano) que se observa sobre todo en Asia y África, donde generalmente se debe a una alimentación pobre. Se caracteriza por dermatitis (eritema fotodistribuido simétricamente que puede ir acompañado por vesículas y bullas, y que evoluciona a una piel hiperqueratótica e hiperpigmentada), síntomas gastrointestinales (diarrea), y trastornos neuropsiquiátricos (demencia). Puede llegar a ser mortal sin un manejo correcto."},"it":{"name":"Pellagra","definition":"La pellagra è un disturbo alimentare causato dal deficit di niacina (vitamina B3) o del suo precursore (triptofano), che si osserva soprattutto in Asia e in Africa, dove in genere è dovuto alla malnutrizione. È caratterizzata da dermatite (eritema fotodistribuito simmetrico, che può associarsi a vescicole e bolle, e che si sviluppa sulla cute iperpigmentata e ipercheratosica), sintomi gastrointestinali (diarrea) e disturbi neuropsichiatrici (demenza). In assenza di una corretta presa in carico, può essere potenzialmente letale."},"nl":{"name":"Pellagra","definition":"Een voedingsstoornis, veroorzaakt door deficiëntie van niacine (vitamine B3) of de precursor ervan (tryptofaan), en vooral waargenomen in Azië en Afrika waar het doorgaans te wijten is aan ondervoeding. Pellagra wordt gekenmerkt door dermatitis (erytheem met symmetrische distributie volgens een lichtgevoelig patroon, mogelijk vergezeld van vesikels en blaren, dat ontwikkelt tot hyperkeratotische en gehyperpigmenteerde huid), gastro-intestinale symptomen (diarree), en neuropsychiatrische aandoeningen (dementie). Zonder correct ziektebeheer kan de aandoening levensbedreigend zijn."},"pt":{"name":"Pelagra"},"pl":{"name":"Pelagra"},"cs":{"name":"Pelagra"},"uk":{"name":"Пеллагра","definition":"Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management."},"zh":{"name":"糙皮病","definition":"糙皮病是一种由烟酸(维生素B3)或其前体(色氨酸)缺乏引起的营养紊乱，主要在营养不良常见的亚洲和非洲被观察到。它的特征是皮炎(对称性光分布红斑，可能伴有水泡和大疱性红斑，并发展为角化过度和皮肤色素沉着)、胃肠道症状(腹泻)和神经精神障碍(痴呆症)。该病如果没有正确的管理，可能会危及生命。"},"tr":{"name":"Pelegra"}},"xrefs":[{"source":"ICD-10","code":"E52","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5B5C.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1108993080"},{"source":"MONDO","code":"0019975","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010383","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0030783","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10014","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10029400","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":90077,"name":"Other acquired skin disease","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-01","source":"34882669[PMID]_33471377[PMID]_32491660[PMID]","terms":[{"hpo":"HP:0100497","label":"Vitamin B3 deficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100825","label":"Cheilitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031258","label":"Delirium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005263","label":"Gastritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000206","label":"Glossitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010280","label":"Stomatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032448","label":"Achlorhydria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031987","label":"Diminished ability to concentrate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033505","label":"Livedo reticularis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025300","label":"Malar rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100653","label":"Optic neuritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null}]}}