ARSD

Summary

ARSD (arylsulfatase D, HGNC:717) is a protein-coding gene on chromosome Xp22.33, encoding Arylsulfatase D (P51689).

The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y.

Source: NCBI Gene 414 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 234 total — 19 pathogenic, 1 likely-pathogenic
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001669

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:717
Approved symbol	ARSD
Name	arylsulfatase D
Location	Xp22.33
Locus type	gene with protein product
Status	Approved
Aliases	ASD
Ensembl gene	ENSG00000006756
Ensembl biotype	protein_coding
OMIM	300002
Entrez	414

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000217890, ENST00000381154, ENST00000458014, ENST00000481340, ENST00000494870, ENST00000495294, ENST00000559324, ENST00000954947, ENST00000954948, ENST00000954949

RefSeq mRNA: 2 — MANE Select: NM_001669 NM_001669, NM_009589

CCDS: CCDS35196

Canonical transcript exons

ENST00000381154 — 10 exons

Exon	Start	End
ENSE00000394540	2910659	2910793
ENSE00001487651	2903972	2907632
ENSE00001603877	2909817	2909979
ENSE00001789561	2908721	2908842
ENSE00002543185	2929232	2929339
ENSE00003470838	2921903	2922024
ENSE00003477938	2917804	2918227
ENSE00003496249	2920601	2920723
ENSE00003641752	2925616	2925765
ENSE00003690102	2915556	2915692

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 97.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.6900 / max 120.8853, expressed in 1635 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198302	6.7718	1574
198301	4.1342	1488
198303	1.7840	945

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
renal medulla	UBERON:0000362	97.05	gold quality
cardia of stomach	UBERON:0001162	94.29	gold quality
pylorus	UBERON:0001166	94.21	gold quality
bronchial epithelial cell	CL:0002328	93.30	gold quality
tendon of biceps brachii	UBERON:0008188	93.10	gold quality
nipple	UBERON:0002030	92.15	gold quality
parotid gland	UBERON:0001831	92.03	gold quality
vena cava	UBERON:0004087	91.95	silver quality
buccal mucosa cell	CL:0002336	91.43	gold quality
mammary duct	UBERON:0001765	91.24	gold quality
body of pancreas	UBERON:0001150	91.22	gold quality
endometrium	UBERON:0001295	91.16	gold quality
pharyngeal mucosa	UBERON:0000355	91.12	gold quality
right uterine tube	UBERON:0001302	91.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.09	gold quality
mucosa of sigmoid colon	UBERON:0004993	89.77	gold quality
mucosa of paranasal sinus	UBERON:0005030	89.56	gold quality
superior surface of tongue	UBERON:0007371	89.30	gold quality
body of stomach	UBERON:0001161	89.16	gold quality
right lobe of liver	UBERON:0001114	88.99	gold quality
colonic mucosa	UBERON:0000317	88.92	gold quality
body of tongue	UBERON:0011876	88.92	silver quality
pancreas	UBERON:0001264	88.79	gold quality
fundus of stomach	UBERON:0001160	88.78	gold quality
trachea	UBERON:0003126	88.70	gold quality
tongue	UBERON:0001723	88.54	silver quality
stomach	UBERON:0000945	88.53	gold quality
duodenum	UBERON:0002114	88.39	gold quality
monocyte	CL:0000576	88.34	gold quality
bronchus	UBERON:0002185	88.26	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.13
E-MTAB-7303	no	573.53

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

111 targeting ARSD, 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-7110-3P	100.00	73.18	2486
HSA-MIR-4425	100.00	67.59	1049
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-6077	99.99	68.04	2299
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-556-3P	99.74	68.75	1203

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 3)

• ARSD protein level and IGVH were independently associated with the need for therapy of chronic lymphocytic leukemia patients. (PMID:22820137)
• Evaluation of Arylsulfatase D (ARSD) and long noncoding RNA ARSD-AS1 gene expression in breast cancer patients and their association with oncogenic transcription factors. (PMID:33099917)
• ARSD, a novel ERalpha downstream target gene, inhibits proliferation and migration of breast cancer cells via activating Hippo/YAP pathway. (PMID:34725332)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	arsh	ENSDARG00000002299
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): IDS (ENSG00000010404), ARSF (ENSG00000062096), ARSA (ENSG00000100299), 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 D — P51689 (reviewed: P51689)

All UniProt accessions (4): P51689, A0A140VK06, H0YMY1, H7C327

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Lysosome.

Tissue specificity. Expressed in the pancreas, kidney, liver, lung, placenta, brain and heart.

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.

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

Similarity. Belongs to the sulfatase family.

Isoforms (3)

UniProt ID	Names	Canonical?
P51689-1	1	yes
P51689-2	2, Beta
P51689-3	3, Alpha

RefSeq proteins (1): NP_001660* (*=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

UniProt features (22 total): binding site 8, glycosylation site 3, splice variant 3, sequence variant 3, active site 2, signal peptide 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P51689-F1	92.71	0.88

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): 89 (nucleophile); 150

Ligand- & substrate-binding residues (8): 357; 381; 49; 50; 89 (via 3-oxoalanine); 148; 304; 356

Post-translational modifications (1): 89

Glycosylation sites (3): 61, 128, 347

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-1663150	The activation of arylsulfatases
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-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: 69 (showing top): LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, REACTOME_SPHINGOLIPID_METABOLISM, BASAKI_YBX1_TARGETS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, THUM_SYSTOLIC_HEART_FAILURE_DN, GOMF_SULFURIC_ESTER_HYDROLASE_ACTIVITY, GOMF_ARYLSULFATASE_ACTIVITY, DODD_NASOPHARYNGEAL_CARCINOMA_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, WAMUNYOKOLI_OVARIAN_CANCER_LMP_UP, chrXp22

GO Biological Process (0):

GO Molecular Function (3): arylsulfatase activity (GO:0004065), metal ion binding (GO:0046872), hydrolase activity (GO:0016787)

GO Cellular Component (3): lysosome (GO:0005764), endoplasmic reticulum lumen (GO:0005788), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-7 pathways:

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sulfuric ester hydrolase activity	1
cation binding	1
catalytic activity	1
lytic vacuole	1
endoplasmic reticulum	1
intracellular organelle lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

950 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARSD	XG	P55808	767
ARSD	GET3	O43681	669
ARSD	PRKX	P51817	647
ARSD	CD99	P14209	618
ARSD	PNPLA4	P41247	595
ARSD	XKR3	Q5GH77	570
ARSD	GYG2	O15488	528
ARSD	SHOX	O15266	519
ARSD	TBL1X	O60907	488
ARSD	ZFX	P17010	474
ARSD	RPS4X	P12631	466
ARSD	AS3MT	Q9HBK9	460
ARSD	PUDP	Q08623	448
ARSD	EIF2S3	P41091	443
ARSD	C8orf82	Q6P1X6	434

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ARSL	FBXO21	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): ARSD (Proximity Label-MS), ARSD (Affinity Capture-MS), ARSD (Affinity Capture-MS), ARSD (Protein-peptide)

ESM2 similar proteins: A6H603, A6H751, A7Z052, D6MZJ6, O35710, O43304, O60906, O70572, O95382, O95479, P21709, P48760, P49184, P51689, P51690, P51839, P79942, Q05932, Q09M05, Q149M9, Q28DT3, Q2QDE7, Q2QDE9, Q2QDF0, Q2QDF1, Q5XIA3, Q60750, Q60HH5, Q643R3, Q68G58, Q6NVG1, Q6ZPS2, Q76MJ5, Q7TNJ2, Q8NFF5, Q90YK5, Q91X21, Q91XB0, Q924L9, Q924T7

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

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	19
Likely pathogenic	1
Uncertain significance	101
Likely benign	26
Benign	4

Top pathogenic / likely-pathogenic (20)

Variant ID	HGVS	Classification
1073287	NC_000023.10:g.(?2838632)(2878441_?)del	Pathogenic
1339979	GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449837)x0	Pathogenic
1340700	GRCh37/hg19 Xp22.33-22.32(chrX:1-4567282)x1	Pathogenic
147582	GRCh38/hg38 Xp22.33-22.31(chrX:2765636-6317066)x1	Pathogenic
150040	GRCh38/hg38 Xp22.33(chrX:1718254-3700497)x0	Pathogenic
154679	GRCh38/hg38 Xp22.33-22.31(chrX:2790845-6495923)x0	Pathogenic
1708269	GRCh37/hg19 Xp22.33(chrX:2696691-3666623)x1	Pathogenic
1807716	GRCh37/hg19 Xp22.33(chrX:2703823-3354304)x1	Pathogenic
2422194	NC_000023.10:g.(?2835825)(2878441_?)del	Pathogenic
253483	GRCh37/hg19 Xp22.33(chrX:71267-3248235)x1	Pathogenic
3062488	GRCh37/hg19 Xp22.33-22.31(chrX:168546-7545375)	Pathogenic
3148849	GRCh37/hg19 Xp22.33-22.32(chrX:168552-5388161)x1	Pathogenic
3391943	GRCh37/hg19 Xp22.33-22.32(chrX:539723-5411986)x0	Pathogenic
441781	GRCh37/hg19 Xp22.33(chrX:168546-3259868)x0	Pathogenic
441807	GRCh37/hg19 Xp22.33(chrX:168547-3880686)x0	Pathogenic
442508	GRCh37/hg19 Xp22.33-22.31(chrX:168546-7721374)x1	Pathogenic
443486	GRCh37/hg19 Xp22.33-22.32(chrX:168546-5896155)x1	Pathogenic
687367	GRCh37/hg19 Xp22.33-22.31(chrX:169790-8465951)x1	Pathogenic
816485	GRCh37/hg19 Xp22.33-22.31(chrX:60814-6043278)x0	Pathogenic
4683015	GRCh37/hg19 Xp22.33-22.31(chrX:168547-8165052)x3	Likely pathogenic

SpliceAI

1761 predictions. Top by Δscore:

Variant	Effect	Δscore
X:2908719:A:AC	donor_gain	1.0000
X:2908719:ACTGT:A	donor_gain	1.0000
X:2908720:C:CC	donor_gain	1.0000
X:2908720:CTGT:C	donor_gain	1.0000
X:2908720:CTGTC:C	donor_gain	1.0000
X:2917799:CTTA:C	donor_loss	1.0000
X:2917800:TTA:T	donor_loss	1.0000
X:2917801:TACCT:T	donor_loss	1.0000
X:2917803:C:CT	donor_loss	1.0000
X:2908712:GGTAC:G	donor_loss	0.9900
X:2908713:GTAC:G	donor_loss	0.9900
X:2908714:TAC:T	donor_loss	0.9900
X:2908715:ACT:A	donor_loss	0.9900
X:2908716:CT:C	donor_loss	0.9900
X:2908717:TC:T	donor_loss	0.9900
X:2908718:CA:C	donor_loss	0.9900
X:2908719:A:T	donor_loss	0.9900
X:2908842:CCTGA:C	acceptor_gain	0.9900
X:2908850:C:CT	acceptor_gain	0.9900
X:2908851:A:C	acceptor_gain	0.9900
X:2909806:T:C	donor_gain	0.9900
X:2909812:CGTA:C	donor_loss	0.9900
X:2909815:A:T	donor_loss	0.9900
X:2909975:CCCAC:C	acceptor_gain	0.9900
X:2909976:CCAC:C	acceptor_gain	0.9900
X:2909976:CCACC:C	acceptor_gain	0.9900
X:2909977:CAC:C	acceptor_gain	0.9900
X:2909977:CACC:C	acceptor_gain	0.9900
X:2910158:C:CA	donor_gain	0.9900
X:2917802:A:AC	donor_gain	0.9900

AlphaMissense

3866 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:2918220:C:A	W149C	0.999
X:2918220:C:G	W149C	0.999
X:2918222:A:G	W149R	0.999
X:2918222:A:T	W149R	0.999
X:2921943:G:C	S92R	0.997
X:2921943:G:T	S92R	0.997
X:2921945:T:G	S92R	0.997
X:2918157:A:C	F170L	0.994
X:2918157:A:T	F170L	0.994
X:2918159:A:G	F170L	0.994
X:2918224:T:A	K148I	0.994
X:2918148:G:C	F173L	0.993
X:2918148:G:T	F173L	0.993
X:2918150:A:G	F173L	0.993
X:2910727:T:A	D356V	0.991
X:2907348:A:G	W569R	0.990
X:2907348:A:T	W569R	0.990
X:2918213:C:A	G152C	0.990
X:2909876:G:C	S413R	0.989
X:2909876:G:T	S413R	0.989
X:2909878:T:G	S413R	0.989
X:2918158:A:G	F170S	0.989
X:2918221:C:G	W149S	0.989
X:2907502:A:C	F517L	0.988
X:2907502:A:T	F517L	0.988
X:2907504:A:G	F517L	0.988
X:2909955:T:A	E387V	0.988
X:2917907:A:G	W254R	0.988
X:2917907:A:T	W254R	0.988
X:2918227:C:A	G147V	0.988

dbSNP variants (sampled 300 via entrez): RS1000070987 (X:2929980 C>T), RS1000145381 (X:2926708 T>C), RS1000682894 (X:2912675 C>T), RS1000897865 (X:2923173 C>G,T), RS1001189832 (X:2910244 TG>T), RS1001371503 (X:2923552 T>G), RS1001623819 (X:2931067 C>A,T), RS1001819771 (X:2922310 G>A), RS1002145079 (X:2913358 GC>G), RS1002522364 (X:2914242 T>A,C), RS1002885191 (X:2924021 A>C), RS1003048932 (X:2904092 G>C), RS1003151078 (X:2915060 A>G), RS1003204952 (X:2914561 CTG>C), RS1003471049 (X:2916284 T>G)

Disease associations

OMIM: gene MIM:300002 | disease phenotypes: MIM:302950, MIM:602497

GenCC curated gene-disease

Mondo (3): X-linked chondrodysplasia punctata 1 (MONDO:0010555), Klinefelter syndrome (MONDO:0006823), chondrodysplasia punctata, brachytelephalangic, autosomal (MONDO:0011238)

Orphanet (1): Brachytelephalangic chondrodysplasia punctata (Orphanet:79345)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007713	Klinefelter Syndrome	C12.050.351.875.253.795.500; C12.200.706.316.795.500; C12.800.316.795.500; C16.131.260.830.835.500; C16.131.939.316.795.500; C16.320.180.830.835.500; C19.391.119.795.500; C19.391.482.629

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	3
Valproic Acid	affects expression, decreases expression, increases expression	3
sodium arsenite	affects methylation, increases expression	2
entinostat	decreases expression, affects cotreatment	2
(+)-JQ1 compound	increases expression	2
Vorinostat	affects cotreatment, increases expression, decreases expression	2
Air Pollutants	decreases expression	2
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
propionaldehyde	decreases expression	1
bisphenol A	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	increases expression	1
nickel sulfate	increases expression	1
pentanal	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment, decreases expression	1
belinostat	decreases expression	1
abrine	decreases expression	1
dorsomorphin	decreases expression, increases expression, affects cotreatment	1
NSC 689534	affects binding, increases expression	1
Temozolomide	decreases expression	1
Acetaminophen	increases expression	1
Aldehydes	decreases expression	1
Carbamazepine	affects expression	1
Copper	affects binding, increases expression	1
Coumestrol	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1
Methotrexate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02408445	PHASE4	COMPLETED	Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment
NCT03325647	PHASE4	COMPLETED	TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY
NCT05498090	PHASE4	UNKNOWN	Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome
NCT06294990	PHASE4	RECRUITING	Klinefelter Syndrome and Testosterone Treatment in Puberty
NCT05586802	PHASE3	RECRUITING	Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome
NCT00348946	PHASE2	COMPLETED	Androgen Effect on Klinefelter Syndrome Motor Outcome
NCT02061384	PHASE2	COMPLETED	RA-2 13-cis Retinoic Acid (Isotretinoin)
NCT01206270	PHASE2/PHASE3	COMPLETED	Androgen for Leydig Cell Proliferation
NCT00347464	Not specified	WITHDRAWN	Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome
NCT00523835	Not specified	COMPLETED	Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome
NCT00891852	Not specified	UNKNOWN	Non-Invasive Determination of Fetal Chromosome Abnormalities
NCT00896272	Not specified	COMPLETED	Adaptation Among Adolescents and Adults With Klinefelter Syndrome
NCT00999310	Not specified	COMPLETED	Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome
NCT01585831	Not specified	COMPLETED	Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome
NCT01678261	Not specified	COMPLETED	X-chromosome Inactivation, Epigenetics and the Transcriptome
NCT01690013	Not specified	COMPLETED	Life Quality and Health in Patients With Klinefelter Syndrome
NCT01750632	Not specified	COMPLETED	Subcapsular Orchiectomy in Men With Klinefelter Syndrome
NCT01817296	Not specified	COMPLETED	Klinefelter Fertility Preservation
NCT01918280	Not specified	COMPLETED	Fertility Preservation in Cases of Klinefelter Syndrome.
NCT02414295	Not specified	COMPLETED	Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection
NCT02430584	Not specified	UNKNOWN	Whole Blood Specimen Collection From Pregnant Subjects
NCT02461303	Not specified	TERMINATED	Fertility Assessment in Patients With Klinefelter Syndrome
NCT02526628	Not specified	COMPLETED	Thrombosis and Neurocognition in Klinefelter Syndrome
NCT02723305	Not specified	COMPLETED	Cardiometabolic Profiles of Boys With Klinefelter Syndrome
NCT02787486	Not specified	COMPLETED	Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
NCT02788136	Not specified	COMPLETED	Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter Syndrome
NCT03396562	Not specified	RECRUITING	The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
NCT03836300	Not specified	ENROLLING_BY_INVITATION	Parent and Infant Inter(X)Action Intervention (PIXI)
NCT04252001	Not specified	NOT_YET_RECRUITING	Growing up With the Young Endocrine Support System (YESS!)
NCT04803474	Not specified	UNKNOWN	Turner And Klinefelter Treatment Target Study
NCT05014997	Not specified	COMPLETED	TyG Index Levels in Klinefelter Syndrome
NCT05425953	Not specified	UNKNOWN	Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype
NCT05581147	Not specified	RECRUITING	Thyroid Function and Structure in Klinefelter Syndrome
NCT05997706	Not specified	UNKNOWN	Unraveling the Klinefelter’s Disease Physiopathology
NCT06687252	Not specified	COMPLETED	Retrospective Analysis of the Neonatal Management of Patients with an Antenatal Diagnosis of Genital Development Variation At the Hospital of Lyon
NCT07142135	Not specified	ENROLLING_BY_INVITATION	Long-term Systematic Follow-up of Patients With Klinefelter Syndrome Followed at the Department of Growth and Reproduction, Rigshospitalet