Neurodevelopmental disorder with parkinsonism or other movement abnormalities

Summary

Neurodevelopmental disorder with parkinsonism or other movement abnormalities (MONDO:0980990) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	neurodevelopmental disorder with parkinsonism or other movement abnormalities
Mondo ID	MONDO:0980990
OMIM	621506
DOID	DOID:0051076
Is cancer (heuristic)	no

Data availability: 5 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › neurodevelopmental disorder › neurodevelopmental disorder with parkinsonism or other movement abnormalities

Related subtypes (20): intellectual disability, microcephaly, Williams syndrome, Aicardi syndrome, Hao-Fountain syndrome, toluene embryopathy, alternating hemiplegia, atypical Rett syndrome, neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, complex neurodevelopmental disorder, Mendelian neurodevelopmental disorder, TCF7L2-related neurodevelopmental disorder, neurodevelopmental disorder with seizures and brain abnormalities, Yoon-Bellen neurodevelopmental syndrome, neurodevelopmental disorder with microcephaly, hypotonia, and absent language, neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss, neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, neurodevelopmental disorder with seizures and impaired intellectual and language development, Ebstein-Bezieau neurodevelopmental syndrome, Luo-Agrawal neurodevelopmental syndrome

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

5 retrieved; paginated sample, class counts are floors:

4 pathogenic, 1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
4795949	NM_020964.3(EPG5):c.4862G>A (p.Arg1621Gln)	EPG5	Pathogenic	no assertion criteria provided
4795950	NM_020964.3(EPG5):c.6938G>A (p.Cys2313Tyr)	EPG5	Pathogenic	no assertion criteria provided
4795951	NM_020964.3(EPG5):c.3570C>A (p.Tyr1190Ter)	EPG5	Pathogenic	no assertion criteria provided
4795953	EPG5, 18-BP INS	EPG5	Pathogenic	no assertion criteria provided
718870	NM_020964.3(EPG5):c.5308G>A (p.Asp1770Asn)	EPG5	Benign	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
EPG5	Orphanet:1493	Vici syndrome

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
EPG5	HGNC:29331	ENSG00000152223	Q9HCE0	Ectopic P granules protein 5 homolog	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
EPG5	Ectopic P granules protein 5 homolog	Involved in autophagy.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · 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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
EPG5	Other/Unknown	no		Autophagy-related_EPG5, TPR_Epg5, TPR_Epg5_mid

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
bone marrow cell	1
buccal mucosa cell	1
pancreatic ductal cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
EPG5	260	ubiquitous	marker	pancreatic ductal cell, buccal mucosa cell, bone marrow cell

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
EPG5	1,054

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
EPG5	Q9HCE0	1

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
nucleotide transport	1	16852.0×	4e-04	EPG5
interferon-mediated signaling pathway	1	16852.0×	4e-04	EPG5
photoreceptor cell differentiation	1	8426.0×	4e-04	EPG5
inclusion body assembly	1	8426.0×	4e-04	EPG5
maintenance of protein complex location	1	8426.0×	4e-04	EPG5
protein aggregate center assembly	1	8426.0×	4e-04	EPG5
cellular response to dsDNA	1	8426.0×	4e-04	EPG5
response to type III interferon	1	5617.3×	4e-04	EPG5
homeostasis of number of retina cells	1	5617.3×	4e-04	EPG5
mucosal immune response	1	2407.4×	9e-04	EPG5
toll-like receptor 9 signaling pathway	1	1872.4×	0.001	EPG5
host-mediated modulation of intestinal microbiota composition	1	1532.0×	0.001	EPG5
autophagosome maturation	1	351.1×	0.004	EPG5
endosome to lysosome transport	1	337.0×	0.004	EPG5
response to unfolded protein	1	300.9×	0.005	EPG5
endocytic recycling	1	267.5×	0.005	EPG5
neuron apoptotic process	1	185.2×	0.007	EPG5
gene expression	1	79.9×	0.015	EPG5
ubiquitin-dependent protein catabolic process	1	74.2×	0.015	EPG5
defense response to virus	1	69.3×	0.015	EPG5
inflammatory response	1	37.7×	0.027	EPG5

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
EPG5	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	EPG5

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)
EPG5	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.