Johanson-Blizzard Syndrome (JBS)

External Ids:

Disease Ontology 12 DOID:14694 OMIM 56 243800 KEGG 36 H00571 MeSH 43 C535880 SNOMED-CT 67 75979009 MESH via Orphanet 44 C535880

ICD10 via Orphanet 33 Q87.8 UMLS via Orphanet 72 C0175692 Orphanet 58 ORPHA2315 MedGen 41 C0175692 SNOMED-CT via HPO 68 109444001 123983008 128602000 14821001 165397008 16740003 17790008 195021004 197446008 199612005 201281002 204208005 204712000 204731006 204878001 204888000 20741006 22033007 22066006 228156007 234948008 237836003 24614000 247578003 248409006 249310005 253217007 253273004 253366007 253549006 258211005 267038008 267258002 268290005 271611007 271737000 27317008 27637000 276610007 278040002 27911000 297995004 298203008 30144000 30288003 32337007 33688009 34911001 36440009 37992001 396351009 398050005 398151007 398152000 399020009 405752007 40930008 423666004 43064006 432119003 432788009 43876007 442433009 47054003 47367009 50477003 51089004 5291005 56317004 5639000 59494005 59927004 60700002 65619001 70142008 73211009 79654002 80212005 85659009 8900005 91138005 more UMLS 71 C0175692

NIH Rare Diseases : ⁵² 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 jacobsen syndrome and aplasia cutis congenita, nonsyndromic. 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 Class I MHC mediated antigen processing and presentation and Protein ubiquitination. Affiliated tissues include pancreas, heart and skin, and related phenotypes are failure to thrive and malabsorption

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.

OMIM : ⁵⁶ 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)

KEGG : ³⁶ Johanson-Blizzard syndrome is a rare, sometimes fatal disorder that is inherited in autosomal recessive pattern. Exocrine pancreatic insufficiency including decreased secretion of lipases and trypsinogen is the most consistent feature. Nasal wing hypoplasia, scalp defects, and sensorineural hearing loss are additional clinical features of the disease. The causative gene, ubiquitin-protein ligase E3 component N-recognin 1 (UBR1), is involved in protein destabilization.

UniProtKB/Swiss-Prot : ⁷³ 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.

Wikipedia : ⁷⁴ Johanson-Blizzard syndrome 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.