Disease definition. Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia. Johanson–Blizzard syndrome (JBS) is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the . NIH Rare Diseases: Johanson-Blizzard syndrome (JBS) is a very rare condition that affects multiple parts of the body. The severity, signs and symptoms of JBS.
|Country:||Republic of Macedonia|
|Published (Last):||27 September 2015|
|PDF File Size:||9.61 Mb|
|ePub File Size:||6.46 Mb|
|Price:||Free* [*Free Regsitration Required]|
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us.
Only comments written in English can be processed. A presumably high risk for diabetes mellitus development during adolescence or adulthood has been reported. Most cases of JBS are caused by mutations of UBR1 gene 15q13 which encodes a protein highly expressed in pancreatic acinar cells.
UBR1 deficiency may contribute to gradual destruction of previously formed acinar cells starting prenatally, thereby leading to pancreatic enzymes deficiency. Diagnosis is confirmed by genetic screening of UBR1. Differential diagnosis includes cystic fibrosis, Shwachman-Diamond syndrome, Pearson Marrow-Pancreas syndrome, partial pancreatic agenesis for congenital exocrine pancreatic insufficiencyoculodentodigital dysplasia for hypoplasia of the alae nasi and Adams-Oliver syndrome for aplasia cutis congenita see these terms.
OMIM Entry – # – JOHANSON-BLIZZARD SYNDROME; JBS
Molecular testing of UBR1 confirms the diagnosis. Transmission is autosomal recessive. Inter- rather than intrafamilial variability have been described. Facial malformations bliizzard be corrected by plastic surgery.
Pancreatic insufficiency wyndrome complications of severe malnutrition e. For patients managed appropriately, survival into adulthood is the rule. Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message. InfancyNeonatal ICD Etiology Most cases of JBS are caused by mutations of UBR1 gene 15q13 which encodes a protein highly expressed in pancreatic acinar cells.
Differential diagnosis Differential diagnosis includes cystic fibrosis, Shwachman-Diamond syndrome, Pearson Marrow-Pancreas syndrome, partial pancreatic agenesis for congenital exocrine pancreatic insufficiencyoculodentodigital dysplasia for hypoplasia of the alae nasi and Adams-Oliver syndrome for aplasia cutis congenita see these terms. Genetic counseling Transmission is autosomal recessive.
Prognosis Pancreatic insufficiency and complications of severe malnutrition e. Detailed information Synrome Guidance for genetic testing Englishpdf.
Rare Disease Database
Additional information Further information on this disease Classification s 6 Gene s 1 Clinical signs and symptoms Other joyanson s 5. Health care resources for this disease Expert centres Diagnostic tests 58 Patient organisations 81 Orphan drug s 9. Specialised Social Services Eurordis directory.
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.