Developmental and epileptic encephalopathy, 72

disease

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Also known as DEE72developmental and epileptic encephalopathy 72EIEE72EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72

Summary

Developmental and epileptic encephalopathy, 72 (MONDO:0032710) is a disease caused by NEUROD2 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: NEUROD2 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 19

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	developmental and epileptic encephalopathy, 72
Mondo ID	MONDO:0032710
OMIM	618374
DOID	DOID:0112208
UMLS	C5193063
MedGen	1681879
GARD	0025725
Is cancer (heuristic)	no

Also known as: DEE72 · developmental and epileptic encephalopathy 72 · EIEE72 · EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72 · epileptic encephalopathy, early infantile, 72

Data availability: 19 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neurological disease › Mendelian neurodevelopmental disorder › genetic developmental and epileptic encephalopathy › developmental and epileptic encephalopathy, 72

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

19 retrieved; paginated sample, class counts are floors:

14 uncertain significance, 3 pathogenic, 2 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2585123	NM_006160.4(NEUROD2):c.208T>G (p.Leu70Val)	NEUROD2	Pathogenic	criteria provided, single submitter
4537452	NM_006160.4(NEUROD2):c.790G>T (p.Ala264Ser)	NEUROD2	Pathogenic	criteria provided, single submitter
625140	NM_006160.4(NEUROD2):c.401T>C (p.Met134Thr)	NEUROD2	Pathogenic	no assertion criteria provided
3773654	NM_006160.4(NEUROD2):c.398G>T (p.Arg133Leu)	NEUROD2	Likely pathogenic	criteria provided, single submitter
625139	NM_006160.4(NEUROD2):c.388G>C (p.Glu130Gln)	NEUROD2	Likely pathogenic	criteria provided, single submitter
1327115	NM_006160.4(NEUROD2):c.488T>C (p.Leu163Pro)	NEUROD2	Uncertain significance	criteria provided, single submitter
1696587	NM_006160.4(NEUROD2):c.169C>T (p.Pro57Ser)	NEUROD2	Uncertain significance	criteria provided, multiple submitters, no conflicts
1701692	NM_006160.4(NEUROD2):c.211G>A (p.Ala71Thr)	NEUROD2	Uncertain significance	criteria provided, single submitter
1706450	NM_006160.4(NEUROD2):c.940G>T (p.Asp314Tyr)	NEUROD2	Uncertain significance	criteria provided, single submitter
1805206	NM_006160.4(NEUROD2):c.517C>A (p.Leu173Ile)	NEUROD2	Uncertain significance	criteria provided, single submitter
1805399	NM_006160.4(NEUROD2):c.355T>C (p.Ser119Pro)	NEUROD2	Uncertain significance	criteria provided, single submitter
2434330	NM_006160.4(NEUROD2):c.914T>G (p.Leu305Arg)	NEUROD2	Uncertain significance	criteria provided, single submitter
2434331	NM_006160.4(NEUROD2):c.742G>A (p.Gly248Ser)	NEUROD2	Uncertain significance	criteria provided, single submitter
2434332	NM_006160.4(NEUROD2):c.905C>A (p.Pro302Gln)	NEUROD2	Uncertain significance	criteria provided, single submitter
2502367	NM_006160.4(NEUROD2):c.400A>G (p.Met134Val)	NEUROD2	Uncertain significance	criteria provided, single submitter
2687482	NM_006160.4(NEUROD2):c.82G>T (p.Glu28Ter)	NEUROD2	Uncertain significance	criteria provided, single submitter
3731474	NM_006160.4(NEUROD2):c.659G>T (p.Gly220Val)	NEUROD2	Uncertain significance	criteria provided, single submitter
4056648	NM_006160.4(NEUROD2):c.302C>A (p.Pro101His)	NEUROD2	Uncertain significance	criteria provided, single submitter
4813989	NM_006160.4(NEUROD2):c.34C>G (p.Leu12Val)	NEUROD2	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · 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
NEUROD2	Strong	Autosomal dominant	developmental and epileptic encephalopathy, 72	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
NEUROD2	Orphanet:1934	Early infantile developmental and epileptic encephalopathy

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
NEUROD2	HGNC:7763	ENSG00000171532	Q15784	Neurogenic differentiation factor 2	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
NEUROD2	Neurogenic differentiation factor 2	Transcriptional regulator implicated in neuronal determination.

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)
NEUROD2	Transcription factor	no		bHLH_dom, TF_bHLH_NeuroD, NeuroD_DUF

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
cortical plate	1
ganglionic eminence	1
right hemisphere of cerebellum	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
NEUROD2	79	tissue_specific	marker	cortical plate, ganglionic eminence, right hemisphere of cerebellum

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NEUROD2	1,561

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
NEUROD2	Q15784	60.91

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
negative regulation of synapse maturation	1	5617.3×	0.003	NEUROD2
cerebellar cortex development	1	2106.5×	0.003	NEUROD2
positive regulation of synapse maturation	1	1872.4×	0.003	NEUROD2
positive regulation of synaptic plasticity	1	1532.0×	0.003	NEUROD2
cellular response to electrical stimulus	1	1296.3×	0.003	NEUROD2
sensory organ development	1	674.1×	0.004	NEUROD2
obsolete positive regulation of DNA-binding transcription factor activity	1	601.9×	0.004	NEUROD2
associative learning	1	481.5×	0.004	NEUROD2
axon development	1	455.5×	0.004	NEUROD2
behavioral fear response	1	432.1×	0.004	NEUROD2
positive regulation of calcium-mediated signaling	1	421.3×	0.004	NEUROD2
cellular response to calcium ion	1	200.6×	0.007	NEUROD2
positive regulation of neuron differentiation	1	198.3×	0.007	NEUROD2
nervous system development	1	45.9×	0.026	NEUROD2
protein ubiquitination	1	41.4×	0.027	NEUROD2
positive regulation of transcription by RNA polymerase II	1	14.9×	0.071	NEUROD2
regulation of transcription by RNA polymerase II	1	11.7×	0.086	NEUROD2

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
NEUROD2	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	NEUROD2

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)
NEUROD2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: NEUROD2