intellectual disability, X-linked 88

Summary

intellectual disability, X-linked 88 (MONDO:0010454) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	intellectual disability, X-linked 88
Mondo ID	MONDO:0010454
OMIM	300852
DOID	DOID:0112053
UMLS	C3275444
MedGen	477075
GARD	0022692
Is cancer (heuristic)	no

Also known as: intellectual disability, X-linked 88 · intellectual disability, XMEN-linked 88 · mental retardation, X-linked 88 · MRX88

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › neurodevelopmental disorder › intellectual disability › non-syndromic intellectual disability › non-syndromic X-linked intellectual disability › intellectual disability, X-linked 88

Related subtypes (51): intellectual disability, X-linked 23, intellectual disability, X-linked 20, intellectual disability, X-linked 14, intellectual disability, X-linked 50, intellectual disability, X-linked 21, intellectual disability, X-linked 58, intellectual disability, X-linked 72, intellectual disability, X-linked 53, intellectual disability, X-linked 73, intellectual disability, X-linked 42, intellectual disability, X-linked 63, intellectual disability, X-linked, with or without seizures, ARX-related, intellectual disability, X-linked 2, intellectual disability, X-linked 81, intellectual disability, X-linked 46, intellectual disability, X-linked 77, intellectual disability, X-linked 45, intellectual disability, X-linked 84, intellectual disability, X-linked 82, intellectual disability, X-linked 30, intellectual disability, X-linked 91, intellectual disability, X-linked 93, chromosome Xp11.22 duplication syndrome, intellectual disability, X-linked 95, intellectual disability, X-linked 96, intellectual disability, X-linked 97, intellectual disability, X-linked 19, intellectual disability, X-linked 89, intellectual disability, X-linked 41, intellectual disability, X-linked 90, intellectual disability, X-linked 92, intellectual disability, X-linked 99, intellectual disability, X-linked 100, intellectual disability, X-linked 101, intellectual disability, X-linked 102, intellectual disability, X-linked 61, intellectual disability, X-linked 103, intellectual disability, X-linked 104, intellectual disability, X-linked 105, intellectual disability, X-linked 1, methylmalonic acidemia with homocystinuria, type cblX, FRAXE intellectual disability, intellectual disability, X-linked 9, intellectual developmental disorder, X-linked 108, intellectual disability, X-linked 106, intellectual disability, X-linked 107, intellectual developmental disorder, X-linked 110, intellectual developmental disorder, X-linked 111, intellectual developmental disorder, X-linked 112, intellectual developmental disorder, X-linked 113, intellectual developmental disorder, X-linked 114

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

1 retrieved; paginated sample, class counts are floors:

1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
11716	NM_000686.5(AGTR2):c.62G>T (p.Gly21Val)	AGTR2	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

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
AGTR2	Orphanet:777	X-linked non-syndromic intellectual disability

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
AGTR2	HGNC:338	ENSG00000180772	P50052	Type-2 angiotensin II receptor	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
AGTR2	Type-2 angiotensin II receptor	Receptor for angiotensin II, a vasoconstricting peptide.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
GPCR	1	23.9×	0.042

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
AGTR2	GPCR	yes		ATII_AT2_rcpt, ATII_rcpt, GPCR_Rhodpsn

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
adrenal tissue	1
ileal mucosa	1
smooth muscle tissue	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
AGTR2	77	tissue_specific	marker	adrenal tissue, ileal mucosa, smooth muscle tissue

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
AGTR2	1,878

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
AGTR2	P50052	7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 7. Enrichment computed across 1 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Class A/1 (Rhodopsin-like receptors)	1	74.2×	0.030	AGTR2
Peptide ligand-binding receptors	1	74.2×	0.030	AGTR2
GPCR ligand binding	1	64.2×	0.030	AGTR2
GPCR downstream signalling	1	43.4×	0.030	AGTR2
Signaling by GPCR	1	40.1×	0.030	AGTR2
G alpha (i) signalling events	1	39.0×	0.030	AGTR2
Signal Transduction	1	10.2×	0.098	AGTR2

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
regulation of systemic arterial blood pressure by circulatory renin-angiotensin	1	16852.0×	7e-04	AGTR2
brain renin-angiotensin system	1	8426.0×	7e-04	AGTR2
G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger	1	8426.0×	7e-04	AGTR2
regulation of metanephros size	1	8426.0×	7e-04	AGTR2
angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure	1	5617.3×	7e-04	AGTR2
positive regulation of metanephric glomerulus development	1	5617.3×	7e-04	AGTR2
negative regulation of neurotrophin TRK receptor signaling pathway	1	4213.0×	8e-04	AGTR2
nitric oxide-cGMP-mediated signaling	1	1532.0×	0.002	AGTR2
negative regulation of heart rate	1	1296.3×	0.002	AGTR2
positive regulation of branching involved in ureteric bud morphogenesis	1	802.5×	0.003	AGTR2
negative regulation of blood vessel endothelial cell migration	1	732.7×	0.003	AGTR2
exploration behavior	1	648.1×	0.003	AGTR2
positive regulation of extrinsic apoptotic signaling pathway	1	455.5×	0.004	AGTR2
blood vessel remodeling	1	383.0×	0.004	AGTR2
vasodilation	1	366.4×	0.004	AGTR2
regulation of blood pressure	1	221.7×	0.006	AGTR2
neuron apoptotic process	1	185.2×	0.007	AGTR2
negative regulation of cell growth	1	144.0×	0.009	AGTR2
brain development	1	79.5×	0.015	AGTR2
cell surface receptor signaling pathway	1	64.1×	0.018	AGTR2
inflammatory response	1	37.7×	0.029	AGTR2
G protein-coupled receptor signaling pathway	1	36.2×	0.029	AGTR2
positive regulation of DNA-templated transcription	1	27.9×	0.036	AGTR2

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
AGTR2	IRBESARTAN

Top cohort targets by molecule count

Symbol	Molecules	Max phase
AGTR2	19	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
IRBESARTAN	4	AGTR2
LOSARTAN	4	AGTR2
SARALASIN	4	AGTR2
LOSARTAN POTASSIUM	4	AGTR2
CANDESARTAN CILEXETIL	4	AGTR2
TELMISARTAN	4	AGTR2
OLMESARTAN MEDOXOMIL	4	AGTR2
DICLOFENAC	4	AGTR2
AZILSARTAN MEDOXOMIL	4	AGTR2
ANGIOTENSIN II	4	AGTR2
BENAZEPRIL	4	AGTR2
MICONAZOLE	4	AGTR2
CANDESARTAN	3	AGTR2
OLMESARTAN	3	AGTR2
ANGIOTENSIN	3	AGTR2
FORASARTAN	2	AGTR2
PRATOSARTAN	2	AGTR2
TASOSARTAN	2	AGTR2
OLODANRIGAN	2	AGTR2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
AGTR2	244	Binding:188, Functional:56

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
AGTR2	244

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

19 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.

Compound	Max phase	Cohort target (bioactivity)
IRBESARTAN	4	AGTR2
LOSARTAN	4	AGTR2
SARALASIN	4	AGTR2
LOSARTAN POTASSIUM	4	AGTR2
CANDESARTAN CILEXETIL	4	AGTR2
TELMISARTAN	4	AGTR2
OLMESARTAN MEDOXOMIL	4	AGTR2
DICLOFENAC	4	AGTR2
AZILSARTAN MEDOXOMIL	4	AGTR2
ANGIOTENSIN II	4	AGTR2
BENAZEPRIL	4	AGTR2
MICONAZOLE	4	AGTR2
CANDESARTAN	3	AGTR2
OLMESARTAN	3	AGTR2
ANGIOTENSIN	3	AGTR2
FORASARTAN	2	AGTR2
PRATOSARTAN	2	AGTR2
TASOSARTAN	2	AGTR2
OLODANRIGAN	2	AGTR2

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	AGTR2
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	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.