ARSA

Summary

ARSA (arylsulfatase A, HGNC:713) is a protein-coding gene on chromosome 22q13.33, encoding Arylsulfatase A (P15289). Hydrolyzes cerebroside sulfate.

The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene.

Source: NCBI Gene 410 — RefSeq curated summary.

At a glance

• Gene–disease (curated): metachromatic leukodystrophy (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 6
• Clinical variants (ClinVar): 1,329 total — 164 pathogenic, 134 likely-pathogenic
• Phenotypes (HPO): 66
• Druggable target: yes
• MANE Select transcript: NM_000487

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:713
Approved symbol	ARSA
Name	arylsulfatase A
Location	22q13.33
Locus type	gene with protein product
Status	Approved
Aliases	ASA
Ensembl gene	ENSG00000100299
Ensembl biotype	protein_coding
OMIM	607574
Entrez	410

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 14 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000216124, ENST00000356098, ENST00000395619, ENST00000395621, ENST00000453344, ENST00000551731, ENST00000608497, ENST00000610191, ENST00000861936, ENST00000861937, ENST00000861938, ENST00000861939, ENST00000861940, ENST00000861941, ENST00000861942, ENST00000861943, ENST00000963449

RefSeq mRNA: 6 — MANE Select: NM_000487 NM_000487, NM_001085425, NM_001085426, NM_001085427, NM_001085428, NM_001362782

CCDS: CCDS14100, CCDS46736

Canonical transcript exons

ENST00000216124 — 8 exons

Exon	Start	End
ENSE00000657812	50625579	50625681
ENSE00000657814	50625936	50626063
ENSE00000657816	50626154	50626278
ENSE00000657818	50626591	50626760
ENSE00000657820	50626834	50627052
ENSE00000878959	50627556	50628152
ENSE00003595694	50627166	50627406
ENSE00003845710	50622754	50625464

Expression profiles

Bgee: expression breadth ubiquitous, 177 present calls, max score 95.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.3543 / max 118.4096, expressed in 1803 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194802	17.3543	1803

Top tissues by expression

283 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.70	gold quality
right testis	UBERON:0004534	95.49	gold quality
granulocyte	CL:0000094	95.43	gold quality
mucosa of transverse colon	UBERON:0004991	95.35	gold quality
left testis	UBERON:0004533	95.28	gold quality
apex of heart	UBERON:0002098	93.68	gold quality
adenohypophysis	UBERON:0002196	93.34	gold quality
minor salivary gland	UBERON:0001830	93.27	gold quality
right lobe of thyroid gland	UBERON:0001119	93.20	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.03	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.88	gold quality
left lobe of thyroid gland	UBERON:0001120	92.79	gold quality
transverse colon	UBERON:0001157	92.74	gold quality
right lobe of liver	UBERON:0001114	92.70	gold quality
body of pancreas	UBERON:0001150	92.56	gold quality
body of stomach	UBERON:0001161	92.22	gold quality
left coronary artery	UBERON:0001626	92.22	gold quality
descending thoracic aorta	UBERON:0002345	92.02	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.91	gold quality
cerebellar hemisphere	UBERON:0002245	91.90	gold quality
ascending aorta	UBERON:0001496	91.86	gold quality
lower esophagus mucosa	UBERON:0035834	91.86	gold quality
thoracic aorta	UBERON:0001515	91.84	gold quality
right adrenal gland	UBERON:0001233	91.75	gold quality
spleen	UBERON:0002106	91.69	gold quality
right adrenal gland cortex	UBERON:0035827	91.69	gold quality
right coronary artery	UBERON:0001625	91.68	gold quality
cerebellar cortex	UBERON:0002129	91.62	gold quality
right atrium auricular region	UBERON:0006631	91.58	gold quality
saliva-secreting gland	UBERON:0001044	91.46	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	39.47
E-ANND-3	yes	14.61
E-MTAB-10553	yes	8.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

51 targeting ARSA, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-1324	99.46	66.57	1302
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-670-3P	99.03	68.88	2404

Literature-anchored findings (GeneRIF, showing 40)

• Multiple alleles in a subject unaffected with metachromatic leucodystrophy (PMID:11333871)
• contribution of mutations to enzyme activity reduction and metachromatic leukodystrophy severity (PMID:11941485)
• analysis of arylsulfatase A mutations demonstrates a lack of association with Alzheimer-type dementia or Down syndrome (PMID:12459318)
• the reduced lysosomal half-life of some mutated forms of ARSA is related to deficient octamerization (PMID:12788103)
• Structures of human arylsulfatase A crystals soaked in solutions containing 4-methylumbelliferyl phosphate and O-phospho-DL-tyrosine have been determined at 2.7- and 3.2-A resolution, respectively. Phosphate and calcium binding sites are identified. (PMID:12888274)
• Metachromatic leukodystrophy Molecular analysis revealed compound heterozygosity for two novel missense mutations affecting conserved residues in the arylsulphatase A (ASA) sulphatase and carboxyterminal domains, with 89% loss of enzymatic activity. (PMID:15026521)
• missense mutation in which actual pathogenic effect was splicing-related by disrupting a potential exonic splicing enhancer (ESE) and causing a complete exon 7 skipping (PMID:15375602)
• Genetic analysis revealed homozygosity for a novel mutation in exon 3 of ARSA (F219V). (PMID:15710861)
• Enzyme replacement therapy, using ARSA, improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. (PMID:15772092)
• Homozygote for mutation of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy (PMID:16110195)
• Adeno-associated virus serotype 5-mediated brain delivery of ARSA is a potentially efficacious therapeutic strategy for metachromatic leukodystrophy patients, especially for those with rapidly progressive form of the disease. (PMID:16311251)
• Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy (PMID:16678723)
• decidual levels of arylsulphatase A showed very low values at 41 weeks, which reduced to a half at 42 weeks of gestation (PMID:17329011)
• Six DNA variants of the arylsulfatase A gene were identified: two novel frameshift mutations (c.179_180dupCA and c.1338dupC), one known nonsense mutation (p.W318X), and three known missense mutations (p.R84Q, p.G99V, and p.R288C) (PMID:17560502)
• Induction of tolerance to human ARSA in a mouse model of metachromatic leukodystrophy is reported. (PMID:17660863)
• Safety of ARSA overexpression for gene therapy of metachromatic leukodystrophy was evaluated. (PMID:17845130)
• R95Q, G144R, H393P, & C521Y cause large structural changes, & are associated with the severe phenotype of mucopolysaccharidosis VI. G137V & Y210C are thought to cause small structural changes in a limited region resulting in the attenuated phenotype. (PMID:18248830)
• 11 novel ARSA alleles in Italian patients with metachromatic leukodystrophy are described. (PMID:18693274)
• DNA sequencing revealed two novel disease-causing missense mutations in the arylsulfatase gene in patients with metachromatic leukodystrophy (PMID:18768108)
• the novel Metachromatic leukodystrophy- causing mutations in the exons 2, 5 and even in 8 of the ARSA gene described here can be classified as severe type 0, leading in homozygosity to the late infantile form Metachromatic leukodystrophy (PMID:19021637)
• We report on two patients with mental retardation, dysmorphic features and low catalytic activity of arylsulfatase A which is because of were explained, in each patients, by a deletion of 22q13 and, thereby, of one allele of ARSA. (PMID:19054018)
• Saposin B(Sap B) is not a limiting factor of the coupled Sap B-ASA reaction in mouse kidney cells even if sulfatide has accumulated to unphysiologically high levels (PMID:19224915)
• characterized eight newly identified ARSA mutations, through lentiviral vector-based expression studies on cell lines and ARSA defective murine fibroblasts. The residual activity associated with the new mutant allele correlates well with the phenotype (PMID:19606494)
• ARSA mutations in the Indian population were characterized. 4 new variant & 5 pseudodeficiency alleles were found. Protein modeling showed loss of interactions leading to conformation change. (PMID:21167507)
• case report of missense mutations p.G99D and p.T409I associated with adult-type metachromatic leukodystrophy (PMID:21265945)
• cationization of ASA and an increase of the mannose 6-phosphate content of the enzyme may promote blood-to-brain transfer of ASA, thus leading to an improved therapeutic efficacy of enzyme replacement therapy behind the BBB. (PMID:21454621)
• The presence of two most common mutations associated with Arylsulfatase A pseudodeficiency was analyzed in 56 patients with diagnosis of relapsing-remitting multiple sclerosis, by polymerase chain reaction restriction fragment length polymorphism method. (PMID:21648305)
• The purpose was to estimate the birth prevalence of Metachromatic leukodystrophy in Poland by determining population frequency of the common pathogenic ARSA gene mutations and to compare this estimate with epidemiological data. (PMID:21695197)
• This is the first report that human adipocytes express functional DAR and ARSA, suggesting a regulatory role for peripheral DA in adipose functions. (PMID:21966540)
• Studied brain uptake in the rhesus monkey of a fusion protein of arylsulfatase a and a monoclonal antibody against the human insulin receptor. (PMID:23192358)
• The interaction between SPAM1, ARSA and HSPA2 in a multimeric complex mediating sperm-egg interaction. (PMID:23209833)
• HSPA2 regulates the expression of sperm surface receptors involved in human sperm-oocyte recognition, such as arylsulfatase A and SPAM1. (PMID:23247813)
• Arylsulphatase A activity in human endometrial polyps inversely correlates with aging (PMID:23689179)
• Sixteen novel mutations that cause metachromatic leukodystrophy have been identified in the arylsulfatase A gene. (PMID:24001781)
• We report three families with Arylsulphatase A partial deficit in which we can find a high recurrence of parkinsonism among the siblings. (PMID:24989669)
• Data indicate a significant correlation between the mutation of c.622delC(p.His208Metfs*46) in the arylsulfatase A (ARSA) gene and the phenotype OF metachromatic leukodystrophy. (PMID:25297594)
• an extensive review of all the ARSA-causative variants published in the literature to date, accounting for a total of 200 ARSA allele types (review) (PMID:26462614)
• First report of arylsulfatase A pseudodeficiency (ASA-PD) allele and haplotype frequencies in a North African population, reveals relatively high prevalence of the ASA-PD allele in the Tunisian population with an intermediate genetic structure between Africans, Middle-eastern and Europeans most probably linked to the particular geographic location of Tunisia and the several population incursions throughout its history (PMID:26577183)
• siblings exhibited compound heterozygous variants {[c.302G>T]+[c.1344dupC]} in the ARSA gene, and both of the variants have been reported as disease-causing mutations previouslyfa (PMID:27374302)
• The novel p.L113P mutation in a Pakistani family with late infantile MLD has a pathogenic and destructive effect on the protein structure and function of ARSA. (PMID:28799099)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	arsa	ENSDARG00000042270
mus_musculus	Arsa	ENSMUSG00000022620
rattus_norvegicus	Arsa	ENSRNOG00000012953
drosophila_melanogaster	CG18278	FBGN0033836
drosophila_melanogaster	CG7408	FBGN0036765
drosophila_melanogaster	CG7402	FBGN0036768
drosophila_melanogaster	Sulf1	FBGN0040271
drosophila_melanogaster	CG32191	FBGN0052191
drosophila_melanogaster	CG30059	FBGN0260475
caenorhabditis_elegans		WBGENE00006308
caenorhabditis_elegans		WBGENE00006309

Paralogs (16): ARSD (ENSG00000006756), IDS (ENSG00000010404), ARSF (ENSG00000062096), STS (ENSG00000101846), ARSB (ENSG00000113273), GNS (ENSG00000135677), SULF1 (ENSG00000137573), GALNS (ENSG00000141012), ARSG (ENSG00000141337), ARSL (ENSG00000157399), ARSK (ENSG00000164291), ARSJ (ENSG00000180801), SGSH (ENSG00000181523), ARSI (ENSG00000183876), SULF2 (ENSG00000196562), ARSH (ENSG00000205667)

Protein

Protein identifiers

Arylsulfatase A — P15289 (reviewed: P15289)

Alternative names: Cerebroside-sulfatase

All UniProt accessions (3): P15289, A0A0C4DFZ2, V9GYR0

UniProt curated annotations — full annotation on UniProt →

Function. Hydrolyzes cerebroside sulfate.

Subunit / interactions. Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts with SUMF1.

Subcellular location. Endoplasmic reticulum. Lysosome.

Post-translational modifications. The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD).

Disease relevance. Metachromatic leukodystrophy (MLD) [MIM:250100] An autosomal recessive disease caused by abnormal intralysosomal accumulation of cerebroside-3-sulfate in central and peripheral nervous systems, as well as other organs. MLD is clinically characterized by leukodystrophy, progressive demyelination and a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Decreased arylsulfatase A activity is detected in urine, leukocytes, and fibroblasts of affected individuals. Several forms of the disease can be distinguished according to the age at onset and disease severity: late infantile, juvenile and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency. Individuals with pseudoarylsulfatase A deficiency have low arylsulfatase A activity but lack neurological manifestations and are apparently healthy. The disease is caused by variants affecting the gene represented in this entry. Multiple sulfatase deficiency (MSD) [MIM:272200] A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. The protein represented in this entry is involved in disease pathogenesis. Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSA at residue Cys-69 that is not converted to 3-oxoalanine.

Activity regulation. Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine.

Cofactor. Binds 1 Ca(2+) ion per subunit.

Miscellaneous. The metal cofactor was first identified as magnesium ion, based on the structure of the recombinant protein, but when purified from human placenta, the protein contains 1 calcium ion per subunit.

Similarity. Belongs to the sulfatase family.

Isoforms (2)

UniProt ID	Names	Canonical?
P15289-1	1	yes
P15289-2	2

RefSeq proteins (6): NP_000478, NP_001078894, NP_001078895, NP_001078896, NP_001078897, NP_001349711 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000917	Sulfatase_N	Domain
IPR017850	Alkaline_phosphatase_core_sf	Homologous_superfamily
IPR024607	Sulfatase_CS	Conserved_site
IPR050738	Sulfatase	Family

Pfam: PF00884, PF14707

Catalyzed reactions (Rhea), 1 shown:

• an N-acyl-1-beta-D-(3-O-sulfo)-galactosyl-sphing-4-enine + H2O = a beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine + sulfate + H(+) (RHEA:21300)

UniProt features (187 total): sequence variant 108, strand 21, helix 21, binding site 9, turn 7, disulfide bond 6, chain 3, mutagenesis site 3, glycosylation site 3, active site 2, signal peptide 1, sequence conflict 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
2AIJ	X-RAY DIFFRACTION	1.55
2HI8	X-RAY DIFFRACTION	1.64
2AIK	X-RAY DIFFRACTION	1.73
1AUK	X-RAY DIFFRACTION	2.1
1E2S	X-RAY DIFFRACTION	2.35
1E1Z	X-RAY DIFFRACTION	2.4
1E33	X-RAY DIFFRACTION	2.5
1E3C	X-RAY DIFFRACTION	2.65
1N2K	X-RAY DIFFRACTION	2.75
1N2L	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P15289-F1	96.43	0.95

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 69 (nucleophile); 125

Ligand- & substrate-binding residues (9): 150; 229; 281; 282; 302; 29; 30; 69 (via 3-oxoalanine); 123

Post-translational modifications (1): 69

Disulfide bonds (6): 156–172, 161–168, 300–414, 488–500, 489–502, 493–499

Glycosylation sites (3): 158, 184, 350

Mutagenesis-validated functional residues (3):

Position	Phenotype
69–70	strongly reduces formation of 3-oxoalanine (also known as c-formylglycine, fgly).
69	abolishes enzyme activity.
69	abolishes formation of 3-oxoalanine (also known as c-formylglycine, fgly). strongly decreases enzyme activity.

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-1663150	The activation of arylsulfatases
R-HSA-6798695	Neutrophil degranulation
R-HSA-9840310	Glycosphingolipid catabolism
R-HSA-1430728	Metabolism
R-HSA-163841	Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation
R-HSA-1660662	Glycosphingolipid metabolism
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-392499	Metabolism of proteins
R-HSA-428157	Sphingolipid metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 250 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GRUETZMANN_PANCREATIC_CANCER_DN, GOCC_SECRETORY_GRANULE, KEGG_LYSOSOME, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, MODULE_256, GOBP_LIPID_METABOLIC_PROCESS, SANSOM_APC_TARGETS_DN, GUO_HEX_TARGETS_UP, MODULE_408, IGLESIAS_E2F_TARGETS_UP, REACTOME_SPHINGOLIPID_METABOLISM, KEGG_SPHINGOLIPID_METABOLISM, GOCC_LYSOSOMAL_LUMEN, GOCC_SECRETORY_VESICLE

GO Biological Process (8): lipid metabolic process (GO:0006629), autophagy (GO:0006914), binding of sperm to zona pellucida (GO:0007339), response to nutrient (GO:0007584), response to pH (GO:0009268), response to estrogen (GO:0043627), response to ethanol (GO:0045471), response to methylmercury (GO:0051597)

GO Molecular Function (7): arylsulfatase activity (GO:0004065), cerebroside-sulfatase activity (GO:0004098), calcium ion binding (GO:0005509), sulfuric ester hydrolase activity (GO:0008484), protein binding (GO:0005515), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (13): extracellular region (GO:0005576), lysosome (GO:0005764), endoplasmic reticulum lumen (GO:0005788), azurophil granule lumen (GO:0035578), lysosomal lumen (GO:0043202), extracellular exosome (GO:0070062), acrosomal vesicle (GO:0001669), obsolete extracellular space (GO:0005615), endosome (GO:0005768), endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), membrane (GO:0016020), extrinsic component of external side of plasma membrane (GO:0031232)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation	1
Innate Immune System	1
Glycosphingolipid metabolism	1
Post-translational protein modification	1
Sphingolipid metabolism	1
Immune System	1
Metabolism of lipids	1
Metabolism	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to chemical	2
sulfuric ester hydrolase activity	2
cellular anatomical structure	2
vacuolar lumen	2
endomembrane system	2
primary metabolic process	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
sperm-egg recognition	1
response to nutrient levels	1
response to abiotic stimulus	1
response to hormone	1
response to alcohol	1
metal ion binding	1
hydrolase activity, acting on ester bonds	1
binding	1
catalytic activity	1
cation binding	1
lytic vacuole	1
endoplasmic reticulum	1
intracellular organelle lumen	1
secretory granule lumen	1
azurophil granule	1
lysosome	1
extracellular vesicle	1
secretory granule	1
cytoplasmic vesicle	1
cytoplasm	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
external side of plasma membrane	1
extrinsic component of plasma membrane	1

Protein interactions and networks

STRING

1166 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARSA	PSAP	P07292	911
ARSA	GALC	P54803	859
ARSA	GUSB	P08236	838
ARSA	ASAH1	Q13510	782
ARSA	HPCA	P32076	781
ARSA	SUMF1	Q8NBK3	781
ARSA	CYB5R3	P00387	774
ARSA	GLA	P06280	754
ARSA	IDUA	P35475	690
ARSA	GLB1	P16278	689
ARSA	GBA1	P04062	662
ARSA	SMPD1	P17405	643
ARSA	HSPA2	P54652	626
ARSA	SPAM1	P38567	603
ARSA	GAL3ST1	Q99999	581

IntAct

91 interactions, top by confidence:

A	B	Type	Score
ARSA	TRIP13	psi-mi:“MI:0915”(physical association)	0.900
TRIP13	ARSA	psi-mi:“MI:0915”(physical association)	0.900
KLK5	DENND11	psi-mi:“MI:0914”(association)	0.640
SCGB1D1	MANBA	psi-mi:“MI:0914”(association)	0.640
C22orf39	ARSA	psi-mi:“MI:0915”(physical association)	0.560
ENKD1	ARSA	psi-mi:“MI:0915”(physical association)	0.560
ARSA	C22orf39	psi-mi:“MI:0915”(physical association)	0.560
ARSA	PKN1	psi-mi:“MI:0915”(physical association)	0.560
ARSA	ENKD1	psi-mi:“MI:0915”(physical association)	0.560
CCDC22	ARSA	psi-mi:“MI:0915”(physical association)	0.560
ARSA	CAMK2B	psi-mi:“MI:0915”(physical association)	0.560
PROP1	ARSA	psi-mi:“MI:0915”(physical association)	0.560
ARSA	EID2B	psi-mi:“MI:0915”(physical association)	0.560
ARSA	POU1F1	psi-mi:“MI:0915”(physical association)	0.560
ARSA	ANXA11	psi-mi:“MI:0915”(physical association)	0.560
ARSA	FOXI1	psi-mi:“MI:0915”(physical association)	0.560
VENTX	ARSA	psi-mi:“MI:0915”(physical association)	0.560
ARSA	RHOXF2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (99): TRIP13 (Two-hybrid), ARSA (Affinity Capture-MS), ARSA (Affinity Capture-MS), ARSA (Affinity Capture-MS), SUMF1 (Affinity Capture-MS), GALNS (Affinity Capture-MS), MESDC2 (Affinity Capture-MS), ZBTB43 (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), PPOX (Affinity Capture-MS), GFPT2 (Affinity Capture-MS), TRIP13 (Two-hybrid), TRIP13 (Two-hybrid), SUMF1 (Affinity Capture-MS), ZBTB43 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RPR8, O18835, O19179, O62763, O77695, O88941, O97524, P08236, P10253, P14000, P15289, P15589, P15848, P21836, P22303, P22412, P23795, P26010, P33727, P37136, P50427, P50428, P50429, P50430, P50473, P51688, P51689, P51690, P51839, P51840, P52785, P54793, Q02846, Q08DD1, Q13724, Q29499, Q32KH8, Q32KH9, Q32KJ9, Q3TYD4

Diamond homologs: P08842, P14000, P15289, P15589, P20713, P34059, P50427, P50428, P50473, P51689, P51690, P54793, Q08DD1, Q32KH5, Q32KH8, Q32KH9, Q32KJ6, Q32KJ9, Q3TYD4, Q571E4, Q5FYA8, Q5FYB0, Q60HH5, Q8BM89, Q8WNQ7, Q9X759, T2KMG4, T2KN90, P22304, P31447, Q08890, Q32KI9, Q32KJ8, Q5FYB1, Q96EG1, P33727, P50430, Q32KH7, Q8A2F6, Q8A2H2

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ARSA	“up-regulates activity”	HBB	acetylation
ARSA	“up-regulates activity”	HBA1	acetylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

1329 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	164
Likely pathogenic	134
Uncertain significance	375
Likely benign	429
Benign	46

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1041453	NM_000487.6(ARSA):c.385G>A (p.Gly129Arg)	Pathogenic
1068641	NM_000487.6(ARSA):c.685-2A>G	Pathogenic
1070652	NM_000487.6(ARSA):c.1107+1G>T	Pathogenic
1072391	NC_000022.10:g.(?51063563)(51066217_?)del	Pathogenic
1072392	NC_000022.10:g.(?51064344)(51066227_?)del	Pathogenic
1098313	NM_000487.6(ARSA):c.582del (p.Trp195fs)	Pathogenic
1177268	NM_000487.6(ARSA):c.1228_1229del (p.Thr410fs)	Pathogenic
1210332	NM_000487.6(ARSA):c.488G>C (p.Cys163Ser)	Pathogenic
1323434	NM_000487.6(ARSA):c.208_209del (p.Leu70fs)	Pathogenic
1381264	NM_000487.6(ARSA):c.731C>A (p.Ser244Ter)	Pathogenic
1406153	NM_000487.6(ARSA):c.272del (p.Pro91fs)	Pathogenic
1421225	NM_000487.6(ARSA):c.270C>A (p.Tyr90Ter)	Pathogenic
1436884	NM_000487.6(ARSA):c.157_164del (p.Gln53fs)	Pathogenic
1452278	NM_000487.6(ARSA):c.1136del (p.Pro379fs)	Pathogenic
1452818	NM_000487.6(ARSA):c.617dup (p.Ala207fs)	Pathogenic
1455014	NC_000022.10:g.(?51065065)(51065595_?)del	Pathogenic
1455794	NM_000487.6(ARSA):c.302_303delinsTT (p.Gly101Val)	Pathogenic
1457224	NM_000487.6(ARSA):c.1293T>A (p.Tyr431Ter)	Pathogenic
1460113	NM_000487.6(ARSA):c.13del (p.Ala5fs)	Pathogenic
1476243	NM_000487.6(ARSA):c.393_425del (p.Pro132_Gly142del)	Pathogenic
1685545	NM_000487.6(ARSA):c.1228dup (p.Thr410fs)	Pathogenic
1707612	NM_000487.6(ARSA):c.1030del (p.Ala344fs)	Pathogenic
1707618	NM_000487.6(ARSA):c.891_895del (p.Gly298fs)	Pathogenic
188949	NM_000487.6(ARSA):c.979+1G>A	Pathogenic
188976	NM_000487.6(ARSA):c.240dup (p.Gly81fs)	Pathogenic
189073	NM_000487.6(ARSA):c.304del (p.Leu102fs)	Pathogenic
189170	NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del)	Pathogenic
1956862	NM_000487.6(ARSA):c.311del (p.Leu104fs)	Pathogenic
1963676	NM_000487.6(ARSA):c.245G>T (p.Arg82Leu)	Pathogenic
1982373	NM_000487.6(ARSA):c.263del (p.Gly88fs)	Pathogenic

SpliceAI

1823 predictions. Top by Δscore:

Variant	Effect	Δscore
22:50625577:AC:A	donor_gain	1.0000
22:50625931:CCTA:C	donor_loss	1.0000
22:50625932:CTA:C	donor_loss	1.0000
22:50625933:TACCT:T	donor_loss	1.0000
22:50625934:A:AT	donor_loss	1.0000
22:50625935:C:T	donor_loss	1.0000
22:50626061:CGC:C	acceptor_gain	1.0000
22:50626828:ACTT:A	donor_loss	1.0000
22:50626830:TTA:T	donor_loss	1.0000
22:50626832:A:AC	donor_gain	1.0000
22:50626833:C:CA	donor_gain	1.0000
22:50626833:CG:C	donor_gain	1.0000
22:50626833:CGT:C	donor_gain	1.0000
22:50626833:CGTG:C	donor_gain	1.0000
22:50626833:CGTGA:C	donor_gain	1.0000
22:50627007:C:CT	acceptor_gain	1.0000
22:50627021:G:T	acceptor_gain	1.0000
22:50627268:T:TA	donor_gain	1.0000
22:50627550:CTTTA:C	donor_loss	1.0000
22:50627551:TTTAC:T	donor_loss	1.0000
22:50627552:TTA:T	donor_loss	1.0000
22:50627553:TAC:T	donor_loss	1.0000
22:50627891:C:CA	donor_gain	1.0000
22:50627911:T:TA	donor_gain	1.0000
22:50625607:T:A	donor_gain	0.9900
22:50626060:ACGCC:A	acceptor_loss	0.9900
22:50626062:GCCTG:G	acceptor_loss	0.9900
22:50626063:CCTG:C	acceptor_loss	0.9900
22:50626064:C:CC	acceptor_gain	0.9900
22:50626064:CTGG:C	acceptor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000378031 (22:50626508 T>C), RS1000431855 (22:50626306 A>G,T), RS1000715285 (22:50627582 C>G,T), RS1000766642 (22:50627401 G>A), RS1000945488 (22:50623060 G>C), RS1001100248 (22:50625684 G>A,C), RS1001331166 (22:50623846 C>T), RS1001680534 (22:50624044 C>T), RS1002298028 (22:50625623 A>G), RS1002388779 (22:50628560 C>G), RS1002426091 (22:50629817 C>T), RS1002441093 (22:50628330 G>C,T), RS1002825563 (22:50628738 T>G), RS1002909590 (22:50630048 A>G), RS1003164509 (22:50628535 A>G)

Disease associations

OMIM: gene MIM:607574 | disease phenotypes: MIM:250100, MIM:108600, MIM:312080, MIM:619418, MIM:215700

GenCC curated gene-disease

Disease	Classification	Inheritance
metachromatic leukodystrophy, juvenile form	Definitive	Autosomal recessive
metachromatic leukodystrophy	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
metachromatic leukodystrophy	Definitive	AR

Mondo (15): metachromatic leukodystrophy (MONDO:0018868), neurodevelopmental disorder (MONDO:0700092), metachromatic leukodystrophy, juvenile form (MONDO:0009591), metachromatic leukodystrophy, late infantile form (MONDO:0017729), lysosomal storage disease (MONDO:0002561), intellectual disability (MONDO:0001071), metachromatic leukodystrophy, adult form (MONDO:0017730), congenital nervous system disorder (MONDO:0002320), spastic ataxia (MONDO:0017845), leukodystrophy (MONDO:0019046), primary amenorrhea (MONDO:1060208), autosomal recessive sideroblastic anemia (MONDO:0016828), frontotemporal dementia (MONDO:0017276), neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 (MONDO:0030375), citrullinemia (MONDO:0015991)

Orphanet (11): Metachromatic leukodystrophy (Orphanet:512), Metachromatic leukodystrophy, juvenile form (Orphanet:309263), Metachromatic leukodystrophy, late infantile form (Orphanet:309256), Lysosomal disease (Orphanet:68366), Metachromatic leukodystrophy, adult form (Orphanet:309271), Spastic ataxia (Orphanet:316226), Leukodystrophy (Orphanet:68356), Autosomal recessive sideroblastic anemia (Orphanet:260305), Frontotemporal dementia (Orphanet:282), Citrullinemia (Orphanet:187), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

66 total (30 of 66 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000648	Optic atrophy
HP:0000649	Abnormality of visual evoked potentials
HP:0000712	Emotional lability
HP:0000716	Depression
HP:0000726	Dementia
HP:0000736	Short attention span
HP:0000738	Hallucinations
HP:0000746	Delusion
HP:0000762	Decreased nerve conduction velocity
HP:0001082	Cholecystitis
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001265	Hyporeflexia
HP:0001268	Mental deterioration
HP:0001283	Bulbar palsy
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001324	Muscle weakness
HP:0001332	Dystonia
HP:0001347	Hyperreflexia
HP:0001939	Abnormality of metabolism/homeostasis
HP:0002066	Gait ataxia
HP:0002072	Chorea
HP:0002080	Intention tremor

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002147_20	Fibrinogen	3.000000e-08
GCST004122_13	Fibrinogen levels	3.000000e-08
GCST004642_2	QT interval (ambient particulate matter interaction)	1.000000e-06
GCST007447_2	vWF and FVIII levels	5.000000e-08
GCST009733_93	Urinary metabolite levels in chronic kidney disease	9.000000e-13
GCST90011899_89	Aspartate aminotransferase levels	2.000000e-14

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004682	QT interval
EFO:0008255	particulate matter air pollution measurement
EFO:0004630	factor VIII measurement
EFO:0005116	urinary metabolite measurement
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D020159	Citrullinemia	C10.228.140.163.100.937.374; C16.320.565.100.940.374; C16.320.565.189.937.374; C18.452.132.100.937.374; C18.452.648.100.940.374; C18.452.648.189.937.374
D057180	Frontotemporal Dementia	C10.228.140.380.266.299; C10.574.950.300.299; C18.452.845.800.300.299; F03.615.400.380.299
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D007966	Leukodystrophy, Metachromatic	C10.228.140.163.100.362.550; C10.228.140.163.100.435.825.850.500; C10.228.140.695.625.550; C10.314.400.550; C16.320.565.189.362.550; C16.320.565.189.435.825.850.500; C16.320.565.398.641.803.925.500; C16.320.565.595.554.825.850.500; C18.452.132.100.362.550; C18.452.132.100.435.825.850.500; C18.452.584.563.641.803.925.500; C18.452.648.189.362.550; C18.452.648.189.435.825.850.500; C18.452.648.398.641.803.925.500; C18.452.648.595.554.825.850.500
D016464	Lysosomal Storage Diseases	C16.320.565.595; C18.452.648.595
D065886	Neurodevelopmental Disorders	F03.625
C564815	Spastic Ataxia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2193 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2071421	Efficacy	3	methylphenidate	Attention Deficit Disorder with Hyperactivity

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2071421	ARSA	3	0.00	1	methylphenidate

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, increases mutagenesis	2
Tobacco Smoke Pollution	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
glycidyl methacrylate	decreases expression	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CD 437	decreases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
nutlin 3	affects cotreatment, increases expression, increases secretion	1
bisphenol B	increases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
MT19c compound	decreases expression	1
bisphenol AF	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Calcitriol	increases expression, affects cotreatment	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression, increases secretion	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diazinon	increases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Ozone	affects expression, increases abundance	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Testosterone	affects cotreatment, increases expression	1
Tetrachlorodibenzodioxin	affects expression	1

ChEMBL screening assays

4 unique, capped per target: 3 binding, 1 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3215185	Functional	PubChem BioAssay. qHTS screen for enhancers of Arylsulfatase A (ASA1): LOPAC Validation Assay. (Class of assay: confirmatory)	PubChem BioAssay data set
CHEMBL5098109	Binding	Inhibition of ARSA (unknown origin) using 4-methylumbelliferyl sulfate (4-MUS) as a substrate by fluorescent assay	Recent advances of quinones as a privileged structure in drug discovery. — Eur J Med Chem

Cellosaurus cell lines

7 cell lines: 4 cancer cell line, 1 finite cell line, 1 induced pluripotent stem cell, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_6B33	GM00197	Finite cell line	Male
CVCL_A4WI	MPIi007-A	Induced pluripotent stem cell	Male
CVCL_D1LJ	Abcam K-562 ARSA KO	Cancer cell line	Female
CVCL_D2I5	Abcam Raji ARSA KO	Cancer cell line	Male
CVCL_D5F7	HeLa::TMEM192-3xHA ARSA partial KO	Cancer cell line	Female
CVCL_UQ16	Abcam Jurkat ARSA KO	Cancer cell line	Male
CVCL_YP18	ARSA-/- immortalized MSC	Transformed cell line	Sex unspecified

Clinical trials (associated diseases)

263 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT04283227	PHASE3	ACTIVE_NOT_RECRUITING	OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT00654433	PHASE3	TERMINATED	ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
NCT00383448	PHASE2	COMPLETED	HSCT for High Risk Inherited Inborn Errors
NCT01043640	PHASE2	COMPLETED	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
NCT01303146	PHASE2	COMPLETED	Efficacy METAZYM for the Treatment Metachromatic Leukodystrophy Treated With Hematopoietic Stem Cell Transplantation
NCT02171104	PHASE2	ACTIVE_NOT_RECRUITING	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT03392987	PHASE2	COMPLETED	A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD)
NCT03771898	PHASE2	ACTIVE_NOT_RECRUITING	A Study of Intrathecal SHP611 in Children With Metachromatic Leukodystrophy
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT06130228	PHASE2	UNKNOWN	Nutritional Therapy in Late-onset Pompe Disease
NCT00418561	PHASE1	COMPLETED	Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT00215527	PHASE1	TERMINATED	Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I
NCT00744692	PHASE1	COMPLETED	Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders
NCT00786968	PHASE1	TERMINATED	Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I
NCT01003912	PHASE1	WITHDRAWN	Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders
NCT05119764	Not specified	COMPLETED	Manual Lymphatic Drainage Before and After Total Knee Replacement, a Single-center Observer-blinded Randomized Controlled Trial
NCT00176904	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Inborn Errors of Metabolism
NCT01372228	PHASE1/PHASE2	TERMINATED	Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
NCT01510028	PHASE1/PHASE2	COMPLETED	Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD)
NCT01560182	PHASE1/PHASE2	COMPLETED	Gene Therapy for Metachromatic Leukodystrophy (MLD)
NCT01801709	PHASE1/PHASE2	COMPLETED	Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy
NCT01887938	PHASE1/PHASE2	COMPLETED	An Efficacy and Safety Study of HGT-1110 in Participants With Metachromatic Leukodystrophy
NCT02559830	PHASE1/PHASE2	UNKNOWN	Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
NCT00004378	Not specified	COMPLETED	Stem Cell Transplantation (SCT) for Genetic Diseases
NCT00005900	Not specified	UNKNOWN	Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation