Preferred Label : hepatocyte nuclear factor 1-beta;

MeSH definition : A hepatocyte nuclear factor that is closely related to HEPATOCYTE NUCLEAR FACTOR 1-ALPHA but is only weakly expressed in the LIVER. Mutations in hepatocyte nuclear factor 1-beta are associated with renal CYSTS and MATURITY-ONSET DIABETES MELLITUS type 5.;

MeSH synonym : hepatocyte nuclear factor 1beta; liver specific transcription factor lf b3; variant hepatic nuclear factor 1; liver specific transcription factor lf-b3; hepatocyte nuclear factor-1beta; hnf-1beta; hnf 1beta; hepatocyte nuclear factor 1 beta;

Registry Number MeSH : 138674-15-4;

Is substance : O;

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A hepatocyte nuclear factor that is closely related to HEPATOCYTE NUCLEAR FACTOR 1-ALPHA but is only weakly expressed in the LIVER. Mutations in hepatocyte nuclear factor 1-beta are associated with renal CYSTS and MATURITY-ONSET DIABETES MELLITUS type 5.

http://www.orpha.net/data/patho/PNDS/Hnf1b_FR_fr_PNDS.pdf
2020
false
false
false
France
rare diseases
general practice
critical pathways
severity of illness index
signs and symptoms
genetic testing
genetic counseling
truth disclosure
patient education as topic
continuity of patient care
hepatocyte nuclear factor 1-beta
mutation
renal cysts and diabetes syndrome
renal cysts and diabetes syndrome
renal cysts and diabetes syndrome
HNF1B-related autosomal dominant tubulointerstitial kidney disease
practice guideline
central nervous system diseases
dental enamel
dental enamel
diabetes mellitus, type 2
kidney diseases, cystic
central nervous system diseases
dental enamel
diabetes mellitus, type 2
kidney diseases, cystic
central nervous system diseases
dental enamel
diabetes mellitus, type 2
kidney diseases, cystic

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https://www.has-sante.fr/jcms/p_3167157/fr/maladie-liee-a-hnf-1
2020
false
false
false
France
critical pathways
hepatocyte nuclear factor 1-beta
general practice
professional role
continuity of patient care
case management
genetic testing
diabetes mellitus
kidney diseases
exocrine pancreatic insufficiency
diabetes mellitus
diabetes mellitus
kidney diseases
kidney diseases
exocrine pancreatic insufficiency
exocrine pancreatic insufficiency
severity of illness index
mutation
resource guides
practice guideline
chronic disease

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02/05/2025


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