Johanson-Blizzard Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Endocrine diseases, Fetal diseases, Ear diseases
Aliases & Descriptions for Johanson-Blizzard Syndrome:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Skin diseases, Endocrine diseases, Ear diseases
Rare neurological diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 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. last updated: 11/30/2015
MalaCards based summary: Johanson-Blizzard Syndrome, also known as nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness, is related to jacobsen syndrome and aplasia cutis congenita, nonsyndromic, and has symptoms including short stature, short nose and malabsorption. An important gene associated with Johanson-Blizzard Syndrome is UBR1 (Ubiquitin Protein Ligase E3 Component N-Recognin 1). Affiliated tissues include pancreas, skin and heart, and related mouse phenotypes are digestive/alimentary and muscle.
Disease Ontology:10 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.
UniProtKB/Swiss-Prot:67 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.
OMIM:49 Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and... (243800) more...
Symptoms by clinical synopsis from OMIM:243800
Clinical features from OMIM:243800
Symptoms:51 (show all 35)
HPO human phenotypes related to Johanson-Blizzard Syndrome:(show all 78)
MalaCards organs/tissues related to Johanson-Blizzard Syndrome:33
Pancreas, Skin, Heart, Bone, Colon, Uterus, Endothelial
MGI Mouse Phenotypes related to Johanson-Blizzard Syndrome:38
Articles related to Johanson-Blizzard Syndrome:(show top 50) (show all 55)
UniProtKB/Swiss-Prot genetic disease variations for Johanson-Blizzard Syndrome:67 (show all 18)
Clinvar genetic disease variations for Johanson-Blizzard Syndrome:5
Search GEO for disease gene expression data for Johanson-Blizzard Syndrome.
Biological processes related to Johanson-Blizzard Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Johanson-Blizzard Syndrome according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet