About: Johanson–Blizzard syndrome

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Johanson–Blizzard syndrome is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with intellectual disability, hearing loss and growth failure. It is sometimes described as a form of ectodermal dysplasia. The disorder is especially noted for causing profound developmental errors and exocrine dysfunction of the pancreas, and it is considered to be an inherited pancreatic disease.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy yago:WikicatAutosomalRecessiveDisorders yago:WikicatCongenitalDisordersOfDigestiveSystem yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:BirthDefect114465048 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Defect114464005 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	متلازمة جوهانسون-بليزارد (ar) Johanson-Blizzard-Syndrom (de) Syndrome de Johanson-Blizzard (fr) Sindrome di Johanson-Blizzard (it) Johanson–Blizzard syndrome (en) Zespół Johanson-Blizzarda (pl)
rdfs:comment	متلازمة جوهانسون-بليزارد هي نادرة، وقاتلة في بعض الأحيان تنتج من صفة متنحية تسبب عيب خلقي متعدد، يضم نمو غير طبيعي للبنكرياس والأنف وفروة الرأس، مع تخلف عقلي، وفقدان السمع وفشل في النمو. يتم وصفها في بعض الأحيان بأنها شكل من أشكال خلل التنسج الأديمي الظاهر. من الملاحظ أن تسبب هذه المتلازمة اضطراب النمو العميقة وقصور إفرازات البنكرياس، ويعتقد أن هذه المتلازمة مرض بنكرياس موروث. (ar) Das Johanson-Blizzard Syndrom (JBS) ist eine seltene, manchmal tödlich verlaufende Erbkrankheit mehrerer Organsysteme, die durch eine gestörte Entwicklung von Bauchspeicheldrüse, Nase und Kopfschwarte gekennzeichnet ist und mit Intelligenzminderung, Hörverlust und Kleinwuchs einhergeht. Die Störung wird gelegentlich als ektodermale Dysplasie beschrieben und üblicherweise als eine erblich bedingte Erkrankung der Bauchspeicheldrüse betrachtet. Die Erkrankung ist nach den amerikanischen Kinderärzten Ann J. Johanson und Robert. M. Blizzard benannt, die diese Störung 1971 erstmals beschrieben haben. (de) Johanson–Blizzard syndrome is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with intellectual disability, hearing loss and growth failure. It is sometimes described as a form of ectodermal dysplasia. The disorder is especially noted for causing profound developmental errors and exocrine dysfunction of the pancreas, and it is considered to be an inherited pancreatic disease. (en) Le syndrome de Johanson-Blizzard est une maladie génétique rare à transmission autosomique récessive décrite pour la première fois en 1971. (fr) La sindrome di Johanson-Blizzard è una malattia genetica rara a trasmissione autosomica recessiva. (it) Zespół Johanson-Blizzarda (łac. syndroma Johanson-Blizzard ang. Johanson-Blizzard syndrome, JBS) – genetycznie uwarunkowany zespół wad wrodzonych charakteryzujący się niedoczynnością zewnątrzwydzielniczą trzustki, hipoplazją skrzydełek nosa, , niedosłuchem odbiorczym oraz niepełnosprawnością intelektualną. (pl)
foaf:name	Johanson-Blizzard syndrome (en)
name	Johanson-Blizzard syndrome (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Genodermatoses Syndromes affecting the gastrointestinal tract Rare syndromes Syndromes with intellectual disability Congenital disorders of digestive system Syndromes affecting the endocrine system
Wikipage page ID	22519615 (xsd:integer)
Wikipage revision ID	1086561398 (xsd:integer)
Link from a Wikipage to another Wikipage	Cataract Proteasome Robert M. Blizzard Electrolyte Messenger RNA Molecule Muller's morphs Mutation Nerve Nucleotide Structural motif Neoplasm dbr:Bicarbonate Bone Allele Ann J. Johanson Anterior pituitary Anus Aplasia Homeostasis Homozygous Human mandible Human skull Pre-eclampsia Hypoglycemia Hypopituitarism Hypothyroidism Peptide Cyst Cystic fibrosis DNA Ubiquitin ligase Uterus Vagina Vestibule of the ear Deafness Deciduous teeth Degron Depressor septi nasi muscle Dextrocardia In vivo Infant Inflammation

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