Johanson-Blizzard Syndrome (JBS)

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Disease Ontology 12 DOID:14694 OMIM 57 243800 KEGG 37 H00571 MeSH 44 C535880 SNOMED-CT 68 75979009 MESH via Orphanet 45 C535880

ICD10 via Orphanet 34 Q87.8 UMLS via Orphanet 73 C0175692 Orphanet 59 ORPHA2315 MedGen 42 C0175692 UMLS 72 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 exocrine pancreatic insufficiency and jacobsen syndrome. 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 AMPK Enzyme Complex Pathway and Cardiac muscle contraction. Affiliated tissues include pancreas, skin and bone, 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 : 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)

KEGG : ³⁷ 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 : ⁷⁴ 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 : ⁷⁵ 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.