Distal 7q11.23 microdeletion syndrome

Summary

Distal 7q11.23 microdeletion syndrome (MONDO:0013393) is a disease with 2 cohort genes.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 2
• ClinVar variants: 2
• Phenotypes (HPO): 12

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		41	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

12 HPO clinical features (Orphanet curated; top 12 by frequency):

HPO ID	Term	Frequency
HP:0001249	Intellectual disability	Frequent (30-79%)
HP:0001250	Seizure	Frequent (30-79%)
HP:0001328	Specific learning disability	Frequent (30-79%)
HP:0000252	Microcephaly	Occasional (5-29%)
HP:0000717	Autism	Occasional (5-29%)
HP:0000718	Aggressive behavior	Occasional (5-29%)
HP:0001631	Atrial septal defect	Occasional (5-29%)
HP:0001643	Patent ductus arteriosus	Occasional (5-29%)
HP:0002132	Porencephaly	Occasional (5-29%)
HP:0002308	Chiari malformation	Occasional (5-29%)
HP:0007018	Attention deficit hyperactivity disorder	Occasional (5-29%)
HP:0007302	Bipolar affective disorder	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	distal 7q11.23 microdeletion syndrome
Mondo ID	MONDO:0013393
OMIM	613729
Orphanet	254351
UMLS	C3150999
MedGen	462349
GARD	0017218
Is cancer (heuristic)	no

Also known as: chromosome 7q11.23 deletion syndrome, distal, 1.2mb · distal del(7)(q11.23) · distal monosomy 7q11.23

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 deletion › partial deletion of chromosome 7 › partial deletion of the long arm of chromosome 7 › distal 7q11.23 microdeletion syndrome

Related subtypes (3): Williams syndrome, distal monosomy 7q36, 7q31 microdeletion 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
1330192	GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3	ABHD11	Pathogenic	criteria provided, single submitter
1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	CCDC146	Pathogenic	criteria provided, single submitter

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
ABHD11	HGNC:16407	ENSG00000106077	Q8NFV4	sn-1-specific diacylglycerol lipase ABHD11	clinvar
CCDC146	HGNC:29296	ENSG00000135205	Q8IYE0	Coiled-coil domain-containing protein 146	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ABHD11	sn-1-specific diacylglycerol lipase ABHD11	Catalyzes the hydrolysis of diacylglycerol in vitro and may function as a key regulator in lipid metabolism, namely by regulating the intracellular levels of diacylglycerol. 1,2-diacyl-sn-glycerols are the preferred substrate over 1,3-diac…
CCDC146	Coiled-coil domain-containing protein 146	Essential for sperm flagellum biogenesis and male fertility.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 2 · 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	2	1.8×	0.312

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ABHD11	Other/Unknown	no		AB_hydrolase_1, AB_hydrolase_fold
CCDC146	Other/Unknown	no

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
metanephros cortex	1
mucosa of transverse colon	1
right lobe of thyroid gland	1
bronchial epithelial cell	1
bronchus	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ABHD11	280	ubiquitous	marker	mucosa of transverse colon, metanephros cortex, right lobe of thyroid gland
CCDC146	234	broad	marker	bronchial epithelial cell, right uterine tube, bronchus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ABHD11	1,474
CCDC146	896

Structural data

PDB: 0 · AlphaFold-only: 2 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ABHD11	Q8NFV4	88.41
CCDC146	Q8IYE0	78.78

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
manchette assembly	1	648.1×	0.011	CCDC146
sperm flagellum assembly	1	337.0×	0.011	CCDC146
nucleus organization	1	280.9×	0.011	CCDC146
sperm axoneme assembly	1	234.1×	0.011	CCDC146
single fertilization	1	91.6×	0.020	CCDC146
cell morphogenesis	1	78.8×	0.020	CCDC146
spermatid development	1	72.6×	0.020	CCDC146
cell population proliferation	1	51.4×	0.024	CCDC146
lipid metabolic process	1	45.8×	0.024	ABHD11
gene expression	1	39.9×	0.025	CCDC146

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ABHD11	0	0
CCDC146	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
ABHD11	4	Binding:2, Functional:2

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	ABHD11, CCDC146

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)
ABHD11	4	—
CCDC146	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.