Moyamoya disease 7

Summary

Moyamoya disease 7 (MONDO:0958202) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	moyamoya disease 7
Mondo ID	MONDO:0958202
OMIM	620687
UMLS	C5882748
MedGen	1851566
GARD	0026974
Is cancer (heuristic)	no

Data availability: 4 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › cerebrovascular disorder › intracranial arterial disease › cerebral arterial disease › Moyamoya disease › moyamoya disease 7

Related subtypes (7): moyamoya disease 1, moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome, Moyamoya disease 2, moyamoya disease 3, Moyamoya disease 5, Moyamoya disease with early-onset achalasia, Moyamoya disease 8

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

4 retrieved; paginated sample, class counts are floors:

2 uncertain significance, 2 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2691755	NM_018043.7(ANO1):c.1972A>G (p.Met658Val)	ANO1	Pathogenic	no assertion criteria provided
2691757	NM_018043.7(ANO1):c.2219C>T (p.Thr740Ile)	ANO1	Pathogenic	no assertion criteria provided
2487823	NM_018043.7(ANO1):c.508G>A (p.Glu170Lys)	ANO1	Uncertain significance	criteria provided, single submitter
4072287	NM_018043.7(ANO1):c.2410G>A (p.Val804Met)	ANO1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 0 · 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
ANO1	Moderate	Autosomal dominant	moyamoya disease 7	5

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
ANO1	HGNC:21625	ENSG00000131620	Q5XXA6	Anoctamin-1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ANO1	Anoctamin-1	Calcium-activated chloride channel (CaCC).

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)
ANO1	Other/Unknown	no		Anoctamin, Anoct_dimer, Anoctamin_TM

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
caput epididymis	1
corpus epididymis	1
seminal vesicle	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ANO1	214	broad	marker	caput epididymis, seminal vesicle, corpus epididymis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ANO1	1,344

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ANO1	Q5XXA6	77.20

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 10. 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
Induction of Cell-Cell Fusion	1	878.5×	0.011	ANO1
Late SARS-CoV-2 Infection Events	1	292.8×	0.017	ANO1
Stimuli-sensing channels	1	135.9×	0.025	ANO1
Ion channel transport	1	96.0×	0.025	ANO1
SARS-CoV-2 Infection	1	80.4×	0.025	ANO1
SARS-CoV Infections	1	55.4×	0.030	ANO1
Viral Infection Pathways	1	30.8×	0.045	ANO1
Transport of small molecules	1	25.1×	0.045	ANO1
Infectious disease	1	24.8×	0.045	ANO1
Disease	1	13.1×	0.076	ANO1

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
glial cell projection elongation	1	5617.3×	0.002	ANO1
iodide transport	1	2407.4×	0.002	ANO1
cellular response to peptide	1	1685.2×	0.002	ANO1
mucus secretion	1	1296.3×	0.002	ANO1
detection of temperature stimulus involved in sensory perception of pain	1	842.6×	0.003	ANO1
protein localization to membrane	1	601.9×	0.003	ANO1
chloride transport	1	455.5×	0.003	ANO1
cellular response to heat	1	343.9×	0.004	ANO1
chloride transmembrane transport	1	237.3×	0.005	ANO1
monoatomic ion transmembrane transport	1	208.1×	0.005	ANO1
phospholipase C-activating G protein-coupled receptor signaling pathway	1	131.7×	0.008	ANO1

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
ANO1	NITAZOXANIDE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ANO1	2	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
NITAZOXANIDE	4	ANO1
NICLOSAMIDE	4	ANO1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
ANO1	32	Binding:32

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

2 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)
NITAZOXANIDE	4	ANO1
NICLOSAMIDE	4	ANO1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	ANO1
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.