Maturity-onset diabetes of the young type 7

Summary

Maturity-onset diabetes of the young type 7 (MONDO:0012513) is a disease caused by KLF11 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: KLF11 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 119

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	maturity-onset diabetes of the young type 7
Mondo ID	MONDO:0012513
MeSH	C566466
OMIM	610508
DOID	DOID:0111106
SNOMED CT	609574004
UMLS	C1864839
MedGen	351232
GARD	0010661
Is cancer (heuristic)	no

Also known as: diabetes mellitus MODY type 7 · KLF11 maturity-onset diabetes of the young (disease) · maturity-onset diabetes of the young (disease) caused by mutation in KLF11 · maturity-onset diabetes of the young, type 7 · maturity-onset diabetes of the young, type VII · MODY KLF11 related · MODY type 7 · MODY7 · type 7 maturity-onset diabetes of the young

Data availability: 119 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › digestive system disorder › pancreas disorder › endocrine pancreas disorder › diabetes mellitus › monogenic diabetes › maturity-onset diabetes of the young › maturity-onset diabetes of the young type 7

Related subtypes (14): maturity-onset diabetes of the young type 1, maturity-onset diabetes of the young type 2, renal cysts and diabetes syndrome, maturity-onset diabetes of the young type 3, maturity-onset diabetes of the young type 4, maturity-onset diabetes of the young type 6, maturity-onset diabetes of the young type 8, maturity-onset diabetes of the young type 9, maturity-onset diabetes of the young type 10, maturity-onset diabetes of the young type 11, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, maturity-onset diabetes of the young type 13, maturity-onset diabetes of the young type 14, maturity-onset diabetes of the young, type 12

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

119 retrieved; paginated sample, class counts are floors:

73 uncertain significance, 17 benign, 11 benign/likely benign, 10 likely benign, 8 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
330638	NM_003597.5(KLF11):c.1137C>G (p.Ser379Arg)	KLF11	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
393368	NM_003597.5(KLF11):c.953T>G (p.Leu318Arg)	KLF11	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
6498	NM_003597.5(KLF11):c.1039G>T (p.Ala347Ser)	KLF11	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
892907	NM_003597.5(KLF11):c.546C>A (p.Ser182Arg)	KLF11	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
892940	NM_003597.5(KLF11):c.1486G>A (p.Ala496Thr)	KLF11	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
894353	NM_003597.5(KLF11):c.351A>G (p.Pro117=)	KLF11	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
894381	NM_003597.5(KLF11):c.1130C>T (p.Thr377Ile)	KLF11	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
894383	NM_003597.5(KLF11):c.1304T>A (p.Phe435Tyr)	KLF11	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1336833	NM_003597.5(KLF11):c.1396A>T (p.Ser466Cys)	KLF11	Uncertain significance	criteria provided, multiple submitters, no conflicts
1337221	NM_003597.5(KLF11):c.811A>C (p.Lys271Gln)	KLF11	Uncertain significance	criteria provided, multiple submitters, no conflicts
1430360	NM_003597.5(KLF11):c.437C>T (p.Ala146Val)	KLF11	Uncertain significance	criteria provided, multiple submitters, no conflicts
1431303	NM_003597.5(KLF11):c.992G>T (p.Gly331Val)	KLF11	Uncertain significance	criteria provided, multiple submitters, no conflicts
1497699	NM_003597.5(KLF11):c.1037G>T (p.Gly346Val)	KLF11	Uncertain significance	criteria provided, multiple submitters, no conflicts
2580180	NM_003597.5(KLF11):c.308C>T (p.Thr103Ile)	KLF11	Uncertain significance	criteria provided, single submitter
2582749	NM_003597.5(KLF11):c.57C>A (p.Asp19Glu)	KLF11	Uncertain significance	no assertion criteria provided
2904307	NM_003597.5(KLF11):c.643C>A (p.Gln215Lys)	KLF11	Uncertain significance	criteria provided, multiple submitters, no conflicts
3115263	NM_003597.5(KLF11):c.1117C>G (p.Pro373Ala)	KLF11	Uncertain significance	criteria provided, multiple submitters, no conflicts
330616	NM_003597.5(KLF11):c.-146C>T	KLF11	Uncertain significance	criteria provided, single submitter
330617	NM_003597.5(KLF11):c.-104C>T	KLF11	Uncertain significance	criteria provided, multiple submitters, no conflicts
330621	NM_003597.5(KLF11):c.18C>T (p.Phe6=)	KLF11	Uncertain significance	criteria provided, single submitter
330623	NM_003597.5(KLF11):c.259A>G (p.Met87Val)	KLF11	Uncertain significance	criteria provided, multiple submitters, no conflicts
330624	NM_003597.5(KLF11):c.266C>T (p.Ala89Val)	KLF11	Uncertain significance	criteria provided, multiple submitters, no conflicts
330625	NM_003597.5(KLF11):c.305C>G (p.Ser102Trp)	KLF11	Uncertain significance	criteria provided, single submitter
330626	NM_003597.5(KLF11):c.358A>G (p.Arg120Gly)	KLF11	Uncertain significance	criteria provided, multiple submitters, no conflicts
330630	NM_003597.5(KLF11):c.689C>T (p.Ser230Phe)	KLF11	Uncertain significance	criteria provided, single submitter
330632	NM_003597.5(KLF11):c.928T>C (p.Ser310Pro)	KLF11	Uncertain significance	criteria provided, single submitter
330633	NM_003597.5(KLF11):c.994C>T (p.Pro332Ser)	KLF11	Uncertain significance	criteria provided, single submitter
330634	NM_003597.5(KLF11):c.1046C>T (p.Pro349Leu)	KLF11	Uncertain significance	criteria provided, single submitter
330635	NM_003597.5(KLF11):c.1057C>A (p.Pro353Thr)	KLF11	Uncertain significance	criteria provided, single submitter
330636	NM_003597.5(KLF11):c.1077G>A (p.Met359Ile)	KLF11	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
KLF11	Strong	Autosomal dominant	maturity-onset diabetes of the young type 7	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
KLF11	Orphanet:552	MODY

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
KLF11	HGNC:11811	ENSG00000172059	O14901	Krueppel-like factor 11	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
KLF11	Krueppel-like factor 11	Transcription factor.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
KLF11	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
oocyte	1
primordial germ cell in gonad	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
KLF11	260	ubiquitous	marker	secondary oocyte, oocyte, primordial germ cell in gonad

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KLF11	1,802

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
KLF11	O14901	49.73

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
cellular response to endothelin	1	1404.3×	0.005	KLF11
regulation of G1/S transition of mitotic cell cycle	1	306.4×	0.011	KLF11
positive regulation of apoptotic process	1	56.7×	0.041	KLF11
negative regulation of cell population proliferation	1	42.1×	0.042	KLF11
apoptotic process	1	28.7×	0.049	KLF11
negative regulation of transcription by RNA polymerase II	1	17.7×	0.066	KLF11
regulation of transcription by RNA polymerase II	1	11.7×	0.086	KLF11

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
KLF11	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	KLF11

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
KLF11	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.