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maturity-onset diabetes of the young type 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maturity-onset diabetes of the young type 11

MONDO:0013242

Also known as:BLK maturity-onset diabetes of the young (disease)MODY11maturity-onset diabetes of the young (disease) caused by mutation in BLK

Overview

Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene.

GeneticsAutosomal dominant · BLK (chr 8)

Clinical Presentation

Features include: Maturity-onset diabetes of the young, Overweight, and Obesity.

Organ System	Phenotype Count	Example Features
Hormones	1	Maturity-onset diabetes of the young

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

BLK encodes BLK proto-oncogene, Src family tyrosine kinase (505 aa). Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling. Highest expression in Cells EBV-transformed lymphocytes (103.8 TPM) and Spleen (82.1 TPM).

Maturity-onset diabetes of the young type 11 is associated with mutations in the BLK gene on chromosome 8.

The BLK protein participates in RUNX1 and ELF1, ELF2 or PAX5 bind the BLK gene promoter and RUNX1:CBFB:ELF,ELF2,PAX5:BLK gene pathways.

BLK is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Transcription Factor, and Tyrosine Kinase categories) with score 1.2.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for BLK is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for maturity-onset diabetes of the young type 11 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for maturity-onset diabetes of the young type 11.

56 publications have been identified in PubMed for maturity-onset diabetes of the young type 11. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Patient case studies	24	43%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613375

GARD

Genetic and Rare Diseases Info Center

GARD:15653

Questions for Your Care Team

→Should I pursue genetic testing for BLK, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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maturity-onset diabetes of the young type 11

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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