Johanson-Blizzard Syndrome

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OMIM 57 243800 Disease Ontology 12 DOID:14694 MeSH 44 C535880 SNOMED-CT 68 75979009 Orphanet 59 ORPHA2315 ICD10 via Orphanet 34 Q87.8

MESH via Orphanet 45 C535880 UMLS via Orphanet 74 C0175692 MedGen 42 C0175692 KEGG 37 H00571 SNOMED-CT via HPO 69 258211005 204878001 204888000 34911001 43064006 65619001 271611007 60700002 128602000 22066006 5639000 32337007 73211009 40930008 248409006 201281002 51089004 20741006 267038008 423666004 79654002 204208005 253217007 47054003 228156007 247578003 91138005 398151007 398152000 27911000 298203008 197446008 30144000 33688009 59927004 36440009 432788009 199612005 22033007 267258002 276610007 278040002 56317004 17790008 253549006 30288003 253366007 405752007 70142008 195021004 399020009 27637000 253273004 396351009 59494005 14821001 24614000 27317008 43876007 37992001 47367009 165397008 271737000 204712000 204731006 398050005 297995004 268290005 123983008 5291005 8900005 249310005 237836003 109444001 234948008 80212005 50477003 16740003 442433009 more UMLS 73 C0175692

NIH Rare Diseases : ⁵³ Johanson-Blizzard syndrome (JBS) is a very rare condition that affects multiple parts of the body. The severity, signs and symptoms of JBS may vary among affected individuals. Many symptoms are present at birth or early childhood. Characteristic features include intestinal malabsorption of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency); failure to thrive, contributing to short stature; abnormalities of permanent teeth; distinctive skull and facial features; and/or varying degrees of intellectual disability. JBS can be caused by changes (mutations) in the UBR1 gene and is inherited in an autosomal recessive manner.The treatment focuses on the specific symptoms that are present in each individual and may include pancreatic enzyme supplements (e.g., oral pancreatin) and vitamin supplements.

MalaCards based summary : Johanson-Blizzard Syndrome, also known as jbs, is related to pancreatitis and exocrine pancreatic insufficiency. An important gene associated with Johanson-Blizzard Syndrome is UBR1 (Ubiquitin Protein Ligase E3 Component N-Recognin 1), and among its related pathways/superpathways are SMAD Signaling Network and Ubiquitin-Proteasome Dependent Proteolysis. Affiliated tissues include pancreas, skin and bone, and related phenotypes are diabetes mellitus and intellectual disability

OMIM : ⁵⁷ Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008). (243800)

UniProtKB/Swiss-Prot : ⁷⁵ Johanson-Blizzard syndrome: This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis.

Disease Ontology : ¹² An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner.

Wikipedia : ⁷⁶ Johanson–Blizzard syndrome (JBS) is a rare, sometimes fatal autosomal recessive multisystem congenital... more...

Clinical features from OMIM:

243800

Search Clinical Trials , NIH Clinical Center for Johanson-Blizzard Syndrome

Search GEO for disease gene expression data for Johanson-Blizzard Syndrome.