17q12 Knowledge Basedeletion syndrome · static snapshot
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HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges

Variants or deletions involving the HNF1B gene cause HNF1B-MODY. HNF1B-MODY represents a multisystem disorder extending far beyond its original classification as a monogenic form of diabetes.

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How this was derived

Indexed from **openalex** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:519. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges peer_reviewed · published 2026-06-03 · live page
Approximately half of affected individuals carry large 17q12 deletions encompassing HNF1B and neighboring genes, correlating with broader syndromic features such as intellectual disability, autism spectrum traits, and psychiatric illness.

Supporting documents (1)

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HNF1B -related disease: developmental origins, molecular mechanisms... openalex 2026-06-03 yesterday 1.00