Spinocerebellar ataxia type 41

disease

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Also known as SCA41spinocerebellar ataxia 41

Summary

Spinocerebellar ataxia type 41 (MONDO:0014626) is a disease with 1 cohort gene.

At a glance

Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
Cohort genes: 1
ClinVar variants: 11
Phenotypes (HPO): 3

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

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

Signs & symptoms

Clinical features (HPO)

3 HPO clinical features (Orphanet curated; top 3 by frequency):

HPO ID	Term	Frequency
HP:0002066	Gait ataxia	Frequent (30-79%)
HP:0002172	Postural instability	Frequent (30-79%)
HP:0006855	Cerebellar vermis atrophy	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	spinocerebellar ataxia type 41
Mondo ID	MONDO:0014626
OMIM	616410
Orphanet	458798
DOID	DOID:0111744
UMLS	C4225158
MedGen	908281
GARD	0017810
Is cancer (heuristic)	no

Also known as: SCA41 · spinocerebellar ataxia 41 · spinocerebellar ataxia type 41

Data availability: 11 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › autosomal dominant cerebellar ataxia › autosomal dominant cerebellar ataxia type III › spinocerebellar ataxia type 41

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

11 retrieved; paginated sample, class counts are floors:

8 uncertain significance, 1 pathogenic, 1 benign, 1 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1027487	NM_001130698.2(TRPC3):c.1419del (p.Val474fs)	TRPC3	Pathogenic	criteria provided, single submitter
1298311	NM_001130698.2(TRPC3):c.949G>A (p.Glu317Lys)	TRPC3	Uncertain significance	no assertion criteria provided
1801361	NM_001130698.2(TRPC3):c.2216T>C (p.Leu739Pro)	TRPC3	Uncertain significance	criteria provided, single submitter
192274	NM_001130698.2(TRPC3):c.2285G>A (p.Arg762His)	TRPC3	Uncertain significance	criteria provided, single submitter
2437338	NM_001130698.2(TRPC3):c.857C>G (p.Ser286Trp)	TRPC3	Uncertain significance	criteria provided, single submitter
2971374	NM_001130698.2(TRPC3):c.1330C>T (p.Pro444Ser)	TRPC3	Uncertain significance	criteria provided, multiple submitters, no conflicts
3242189	NM_001130698.2(TRPC3):c.2545C>A (p.Gln849Lys)	TRPC3	Uncertain significance	criteria provided, single submitter
3589814	NM_001130698.2(TRPC3):c.2054C>G (p.Thr685Ser)	TRPC3	Uncertain significance	criteria provided, single submitter
4688146	NM_001130698.2(TRPC3):c.2555T>A (p.Met852Lys)	TRPC3	Uncertain significance	criteria provided, single submitter
1342285	NM_001130698.2(TRPC3):c.117C>T (p.Gly39=)	TRPC3	Benign	criteria provided, multiple submitters, no conflicts
4819565	NM_001130698.2(TRPC3):c.1577G>A (p.Cys526Tyr)	TRPC3	Likely benign	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 1 · 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
TRPC3	Moderate	Autosomal dominant	spinocerebellar ataxia type 41	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TRPC3	Orphanet:458798	Spinocerebellar ataxia type 41

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
TRPC3	HGNC:12335	ENSG00000138741	Q13507	Short transient receptor potential channel 3	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TRPC3	Short transient receptor potential channel 3	Forms a receptor-activated non-selective calcium permeant cation channel.

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
Ion channel	1	111.5×	0.009

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TRPC3	Ion channel	yes		Ankyrin_rpt, TRPC_channel, TRPC3_channel

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
buccal mucosa cell	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TRPC3	163	broad	marker	buccal mucosa cell, secondary oocyte, oocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TRPC3	1,333

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TRPC3	Q13507	19

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 5. 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
Role of second messengers in netrin-1 signaling	1	1038.2×	0.002	TRPC3
Elevation of cytosolic Ca2+ levels	1	713.8×	0.002	TRPC3
MECP2 regulates neuronal receptors and channels	1	601.0×	0.002	TRPC3
Effects of PIP2 hydrolysis	1	456.8×	0.002	TRPC3
TRP channels	1	407.9×	0.002	TRPC3

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of cardiac muscle hypertrophy in response to stress	1	5617.3×	0.002	TRPC3
positive regulation of calcium ion transport into cytosol	1	1203.7×	0.003	TRPC3
response to ATP	1	991.3×	0.003	TRPC3
phototransduction	1	495.6×	0.005	TRPC3
regulation of cytosolic calcium ion concentration	1	383.0×	0.005	TRPC3
response to calcium ion	1	318.0×	0.005	TRPC3
calcium ion transmembrane transport	1	210.7×	0.006	TRPC3
single fertilization	1	183.2×	0.006	TRPC3
calcium ion transport	1	181.2×	0.006	TRPC3

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · 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).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TRPC3	1	2

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
CLEMIZOLE	2	TRPC3

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
TRPC3	45	Binding:45

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

1 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)
CLEMIZOLE	2	TRPC3

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	1	TRPC3
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.

Cohort genes: TRPC3