Spinocerebellar ataxia type 36

disease

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Also known as AsidanSCA36spinocerebellar ataxia 36

Summary

Spinocerebellar ataxia type 36 (MONDO:0013594) is a disease caused by NOP56 (GenCC Definitive), with 1 cohort gene and 1 clinical trial.

At a glance

Prevalence: Unknown (Worldwide) [Orphanet-validated]
Causal gene: NOP56 (GenCC Definitive)
Cohort genes: 1
ClinVar variants: 5
Phenotypes (HPO): 27
Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		100	Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

27 HPO clinical features (Orphanet curated; top 27 by frequency):

HPO ID	Term	Frequency
HP:0000365	Hearing impairment	Very frequent (80-99%)
HP:0001251	Ataxia	Very frequent (80-99%)
HP:0001260	Dysarthria	Very frequent (80-99%)
HP:0002070	Limb ataxia	Very frequent (80-99%)
HP:0002078	Truncal ataxia	Very frequent (80-99%)
HP:0000514	Slow saccadic eye movements	Frequent (30-79%)
HP:0000622	Blurred vision	Frequent (30-79%)
HP:0001288	Gait disturbance	Frequent (30-79%)
HP:0001308	Tongue fasciculations	Frequent (30-79%)
HP:0001310	Dysmetria	Frequent (30-79%)
HP:0002380	Fasciculations	Frequent (30-79%)
HP:0003202	Skeletal muscle atrophy	Frequent (30-79%)
HP:0003487	Babinski sign	Frequent (30-79%)
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	Frequent (30-79%)
HP:0012473	Tongue atrophy	Frequent (30-79%)
HP:0000508	Ptosis	Occasional (5-29%)
HP:0001347	Hyperreflexia	Occasional (5-29%)
HP:0000651	Diplopia	Very rare (<1-4%)
HP:0002015	Dysphagia	Very rare (<1-4%)
HP:0002076	Migraine	Very rare (<1-4%)
HP:0002080	Intention tremor	Very rare (<1-4%)
HP:0002321	Vertigo	Very rare (<1-4%)
HP:0002346	Head tremor	Very rare (<1-4%)
HP:0002378	Hand tremor	Very rare (<1-4%)
HP:0002607	Bowel incontinence	Very rare (<1-4%)
HP:0007018	Attention deficit hyperactivity disorder	Very rare (<1-4%)
HP:0045084	Limb myoclonus	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	spinocerebellar ataxia type 36
Mondo ID	MONDO:0013594
OMIM	614153
Orphanet	276198
DOID	DOID:0050983
ICD-11	1544814018
NCIT	C148316
SNOMED CT	711158005
UMLS	C3472711
MedGen	483339
GARD	0012367
Is cancer (heuristic)	no

Also known as: Asidan · SCA36 · spinocerebellar ataxia 36 · spinocerebellar ataxia type 36

Data availability: 5 ClinVar variants · 3 GenCC gene-disease records · 5 cell lines.

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 I › spinocerebellar ataxia type 36

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

5 retrieved; paginated sample, class counts are floors:

2 pathogenic, 1 uncertain significance, 1 benign, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
126457	NM_006392.4(NOP56):c.3+71GGCCTG[(650_?)]	LOC109504727	Pathogenic	no assertion criteria provided
31106	NM_006392.4(NOP56):c.3+71_3GGCCTG[16_?]	LOC109504727	Pathogenic	no assertion criteria provided
1298312	NM_006392.4(NOP56):c.909G>A (p.Ala303=)	NOP56	Likely pathogenic	no assertion criteria provided
1030104	NM_006392.4(NOP56):c.1475A>G (p.Gln492Arg)	NOP56	Uncertain significance	criteria provided, single submitter
126458	NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14)	LOC109504727	Benign	no assertion criteria provided

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
NOP56	Definitive	Autosomal dominant	spinocerebellar ataxia type 36	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
NOP56	Orphanet:276198	Spinocerebellar ataxia type 36

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
NOP56	HGNC:15911	ENSG00000101361	O00567	Nucleolar protein 56	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
NOP56	Nucleolar protein 56	Involved in the early to middle stages of 60S ribosomal subunit biogenesis.

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)
NOP56	Other/Unknown	no		Nop_dom, NOP58/56_N, NOSIC

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
cervix squamous epithelium	1
granulocyte	1
right hemisphere of cerebellum	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
NOP56	294	ubiquitous	marker	cervix squamous epithelium, granulocyte, right hemisphere of cerebellum

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NOP56	4,968

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
NOP56	O00567	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. 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
Association of TriC/CCT with target proteins during biosynthesis	1	292.8×	0.008	NOP56
rRNA modification in the nucleus and cytosol	1	187.2×	0.008	NOP56
Major pathway of rRNA processing in the nucleolus and cytosol	1	61.7×	0.016	NOP56

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
ribosomal small subunit biogenesis	1	227.7×	0.007	NOP56
rRNA processing	1	141.6×	0.007	NOP56

Therapeutics

Drug target analysis

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

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
NOP56	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
NOP56	1	Binding:1

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

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	1	NOP56

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
NOP56	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Cohort genes: NOP56