Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P62988 (
Ubiquitin
)
4,326
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Johanson-Blizzard syndrome is a very rare autosomal recessive disorder caused by mutations in the
Ubiquitin
-Protein Ligase E3 Component N-Recognin 1 (UBR1) gene. The syndrome is characterized by exocrine
pancreatic insufficiency
and a wide range of additional clinical features, including aplasia or hypoplasia of the alae nasi, oligodontia, sensorineural hearing loss, hypothyroidism, scalp defects, mental retardation, and developmental delay. Several other abnormalities in different organs, particularly anorectal, urogenital, and cardiac anomalies have been reported since the first description of this syndrome four decades ago. UBR1 gene defects are underlying the disease. Only symptomatic treatment is available. Exocrine pancreas insufficiency plus abnormal alae nasi is pathognomonic for Johanson-Blizzard syndrome.
...
PMID:Eponym: Johanson-Blizzard syndrome. 2055 22
