Mucopolysaccharidosis, type 10

Summary

Mucopolysaccharidosis, type 10 (MONDO:0030524) is a disease caused by ARSK (GenCC Strong), with 1 cohort gene.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: ARSK (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 6

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		6	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	mucopolysaccharidosis, type 10
Mondo ID	MONDO:0030524
OMIM	619698
Orphanet	662216
DOID	DOID:0061128
UMLS	C5562064
MedGen	1794274
GARD	0025592
Is cancer (heuristic)	no

Also known as: MPS10

Data availability: 6 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › lysosomal storage disease › mucopolysaccharidosis › mucopolysaccharidosis, type 10

Related subtypes (7): mucopolysaccharidosis type 1, mucopolysaccharidosis type 6, mucopolysaccharidosis type 7, mucopolysaccharidosis type 2, mucopolysaccharidosis type 9, mucopolysaccharidosis type 3, mucopolysaccharidosis type 4

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

6 retrieved; paginated sample, class counts are floors:

3 pathogenic, 2 uncertain significance, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1332916	NM_198150.3(ARSK):c.250C>T (p.Arg84Cys)	ARSK	Pathogenic	no assertion criteria provided
1332917	NM_198150.3(ARSK):c.560T>A (p.Leu187Ter)	ARSK	Pathogenic	no assertion criteria provided
1342941	NM_198150.3(ARSK):c.1251C>G (p.Tyr417Ter)	ARSK	Pathogenic	no assertion criteria provided
4845732	NM_198150.3(ARSK):c.785dup (p.Asn262fs)	ARSK	Likely pathogenic	criteria provided, single submitter
2664211	NM_198150.3(ARSK):c.1312C>T (p.Gln438Ter)	ARSK	Uncertain significance	criteria provided, single submitter
3377667	NM_198150.3(ARSK):c.964C>G (p.Arg322Gly)	ARSK	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · 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
ARSK	Strong	Autosomal recessive	mucopolysaccharidosis, type 10	2

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ARSK	Orphanet:662216	Mucopolysaccharidosis type 10

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
ARSK	HGNC:25239	ENSG00000164291	Q6UWY0	Arylsulfatase K	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ARSK	Arylsulfatase K	Catalyzes the hydrolysis of pseudosubstrates such as p-nitrocatechol sulfate and p-nitrophenyl sulfate.

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
Phosphatase	1	83.9×	0.012

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ARSK	Phosphatase	yes	3.1.6.1	Sulfatase_N, Alkaline_phosphatase_core_sf, ARSK

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
kidney epithelium	1
sperm	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ARSK	237	ubiquitous	marker	kidney epithelium, buccal mucosa cell, sperm

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ARSK	946

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ARSK	Q6UWY0	91.50

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 9. 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
The activation of arylsulfatases	1	878.5×	0.008	ARSK
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation	1	423.0×	0.008	ARSK
Glycosphingolipid metabolism	1	300.5×	0.008	ARSK
Glycosphingolipid catabolism	1	292.8×	0.008	ARSK
Sphingolipid metabolism	1	167.9×	0.011	ARSK
Metabolism of lipids	1	31.6×	0.048	ARSK
Post-translational protein modification	1	19.2×	0.067	ARSK
Metabolism of proteins	1	12.4×	0.086	ARSK
Metabolism	1	11.6×	0.086	ARSK

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ARSK	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ARSK	3.1.6.1, 3.1.6.18	arylsulfatase (type I), glucuronate-2-sulfatase

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	1	ARSK
E	Difficult family or no structure, no drug	0

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)
ARSK	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.