JBS
MCID: JHN001
MIFTS: 52
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Johanson-Blizzard Syndrome (JBS)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Johanson-Blizzard Syndrome:
Characteristics:Orphanet epidemiological data:58
johanson-blizzard syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: infantile,stillbirth; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
death in childhood secondary to malabsorption incidence of 1 in 250,000 births HPO:31
johanson-blizzard syndrome:
Clinical modifier death in infancy death in childhood Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Skin diseases Endocrine diseases
ICD10:
33
Orphanet: 58
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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 anus, imperforate. 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 Organelle biogenesis and maintenance and protein ubiquitylation. Affiliated tissues include pancreas, skin and bone, and related phenotypes are malabsorption and short nose Disease Ontology : 12 A syndrome 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... |
Human phenotypes related to Johanson-Blizzard Syndrome:58 31 (show top 50) (show all 74)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:243800MGI Mouse Phenotypes related to Johanson-Blizzard Syndrome:45
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Cochrane evidence based reviews: johanson blizzard syndrome |
MalaCards organs/tissues related to Johanson-Blizzard Syndrome:40
Pancreas,
Skin,
Bone,
Heart,
Liver,
Colon,
Lung
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Articles related to Johanson-Blizzard Syndrome:(show top 50) (show all 101)
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ClinVar genetic disease variations for Johanson-Blizzard Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Johanson-Blizzard Syndrome:73 (show all 18)
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Search
GEO
for disease gene expression data for Johanson-Blizzard Syndrome.
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Cellular components related to Johanson-Blizzard Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Johanson-Blizzard Syndrome according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Johanson-Blizzard Syndrome according to GeneCards Suite gene sharing:
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