Distal trisomy 10q

Summary

Distal trisomy 10q (MONDO:0019884) is a disease with 2 cohort genes.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 2
• ClinVar variants: 2

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		40	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	distal trisomy 10q
Mondo ID	MONDO:0019884
MeSH	C538087
Orphanet	96102
SNOMED CT	718689000
UMLS	C2931728
MedGen	419480
GARD	0019317
NORD	934
Is cancer (heuristic)	no

Also known as: Chromosome 10, Distal Trisomy 10q · distal duplication 10q · distal trisomy type 10q · telomeric duplication 10q · trisomy 10qter

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › syndrome caused by partial chromosomal duplication › partial duplication of chromosome 10 › partial duplication of the long arm of chromosome 10 › distal trisomy 10q

Related subtypes (3): split hand-foot malformation 3, non-distal trisomy 10q, 10q22.3q23.3 microduplication 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

2 retrieved; paginated sample, class counts are floors:

2 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	A1CF	Pathogenic	no assertion criteria provided
2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
A1CF	HGNC:24086	ENSG00000148584	Q9NQ94	APOBEC1 complementation factor	clinvar
ABLIM1	HGNC:78	ENSG00000099204	O14639	Actin-binding LIM protein 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
A1CF	APOBEC1 complementation factor	Essential component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in APOB mRNA.
ABLIM1	Actin-binding LIM protein 1	May act as scaffold protein.

Protein-family classification

Druggable: 0 · Difficult: 1 · 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
Transcription factor	1	4.1×	0.455
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
A1CF	Other/Unknown	no		RRM_dom, HnRNP_R/Q_splicing_fac, Nucleotide-bd_a/b_plait_sf
ABLIM1	Transcription factor	no		Znf_LIM, Villin_headpiece, AbLIM_anchor

Expression context

Cohort genes with no expression data: 0.

2 cohort genes 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
ileal mucosa	1
jejunal mucosa	1
liver	1
cerebellar vermis	1
esophagus squamous epithelium	1
left ventricle myocardium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
A1CF	78	tissue_specific	marker	liver, jejunal mucosa, ileal mucosa
ABLIM1	299	ubiquitous	marker	left ventricle myocardium, esophagus squamous epithelium, cerebellar vermis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ABLIM1	1,576
A1CF	1,544

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
A1CF	Q9NQ94	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ABLIM1	O14639	59.86

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 9. Enrichment computed across 2 evidence-associated genes (2 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
mRNA Editing: C to U Conversion	1	634.4×	0.005	A1CF
mRNA Editing	1	634.4×	0.005	A1CF
Formation of the Editosome	1	634.4×	0.005	A1CF
DCC mediated attractive signaling	1	356.9×	0.006	ABLIM1
Netrin-1 signaling	1	219.6×	0.008	ABLIM1
Axon guidance	1	22.6×	0.053	ABLIM1
Nervous system development	1	21.5×	0.053	ABLIM1
Metabolism of RNA	1	20.8×	0.053	A1CF
Developmental Biology	1	7.2×	0.134	ABLIM1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
mRNA localization resulting in post-transcriptional regulation of gene expression	1	2808.7×	0.004	A1CF
chromosomal 5-methylcytosine DNA demethylation pathway	1	2106.5×	0.004	A1CF
negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	1	936.2×	0.005	A1CF
cytidine to uridine editing	1	702.2×	0.005	A1CF
mRNA modification	1	648.1×	0.005	A1CF
lamellipodium assembly	1	221.7×	0.012	ABLIM1
embryo implantation	1	175.5×	0.013	A1CF
animal organ morphogenesis	1	95.8×	0.021	ABLIM1
cytoskeleton organization	1	66.3×	0.027	ABLIM1
axon guidance	1	45.3×	0.032	ABLIM1
visual perception	1	39.8×	0.032	ABLIM1
mRNA processing	1	39.4×	0.032	A1CF
cilium assembly	1	36.8×	0.032	ABLIM1
transcription by RNA polymerase II	1	35.3×	0.032	ABLIM1
protein stabilization	1	33.4×	0.032	A1CF
positive regulation of transcription by RNA polymerase II	1	7.4×	0.130	ABLIM1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 0 of 2 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
A1CF	0	0
ABLIM1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; 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	2	A1CF, ABLIM1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
A1CF	0	—
ABLIM1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.