Johanson Blizzard syndrome

Common Name(s)

Johanson Blizzard syndrome

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 mutations in the UBR1 gene and is inherited in an autosomal recessive manner.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Johanson Blizzard syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Johanson Blizzard syndrome" returned 13 free, full-text research articles on human participants. First 3 results:

Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
 

Author(s): Maja Sukalo, Eva Schäflein, Ina Schanze, David B Everman, Nima Rezaei, Jesús Argente, Isabel Lorda-Sanchez, Charu Deshpande, Tsutomu Takahashi, Alexander Kleger, Martin Zenker

Journal: Mol Genet Genomic Med. 2017 11;5(6):774-780.

 

Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ...

Last Updated: 31 Dec 1969

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Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency.
 

Author(s): Kate M Ellery, Steven H Erdman

Journal:

 

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive syndrome characterized by dysmorphic nasal alae, ectodermal abnormalities, exocrine pancreatic insufficiency and early growth failure. Most patients are diagnosed by clinical criteria prenatally or in early infancy. Nonsense, ...

Last Updated: 31 Dec 1969

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Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation.
 

Author(s): C R Quaio, Y K Koda, D R Bertola, M Sukalo, M Zenker, C A Kim

Journal:

 

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder resulting from loss-of-function mutations in the UBR1 gene. JBS can be easily recognized by its unique clinical presentation (including exocrine pancreatic insufficiency, hypoplasia/aplasia of the alae nasi, congenital ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Johanson Blizzard syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Johanson-Blizzard syndrome.
 

Author(s): J A Hurst, M Baraitser

Journal: J. Med. Genet.. 1989 Jan;26(1):45-8.

 

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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