SCGB1D1

Summary

SCGB1D1 (secretoglobin family 1D member 1, HGNC:18395) is a protein-coding gene on chromosome 11q12.3, encoding Secretoglobin family 1D member 1 (O95968). May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer.

The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. This gene product represents one component of a heterodimeric molecule present in human tears whose elution profile is consistent with prostatein, a tetrameric molecule composed of three peptide components in heterodimers. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 15, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2.

Source: NCBI Gene 10648 — RefSeq curated summary.

At a glance

• Gene–disease (curated): lysosomal acid lipase deficiency (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 32
• Clinical variants (ClinVar): 813 total — 63 pathogenic, 86 likely-pathogenic
• Phenotypes (HPO): 52
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_006552

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18395
Approved symbol	SCGB1D1
Name	secretoglobin family 1D member 1
Location	11q12.3
Locus type	gene with protein product
Status	Approved
Aliases	LPHA, LIPA, MGC71958
Ensembl gene	ENSG00000168515
Ensembl biotype	protein_coding
OMIM	615060
Entrez	10648

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000306238

RefSeq mRNA: 1 — MANE Select: NM_006552 NM_006552

CCDS: CCDS8015

Canonical transcript exons

ENST00000306238 — 3 exons

Exon	Start	End
ENSE00001140684	62193399	62193539
ENSE00001140694	62192056	62192243
ENSE00001140702	62190216	62190339

Expression profiles

Bgee: expression breadth broad, 34 present calls, max score 53.64.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1086 / max 171.6081, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
114673	0.1086	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	53.64	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
periodontal ligament	UBERON:0008266	47.14	gold quality
renal glomerulus	UBERON:0000074	46.86	gold quality
metanephric glomerulus	UBERON:0004736	46.77	gold quality
nephron tubule	UBERON:0001231	46.71	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	45.35	gold quality
inferior olivary complex	UBERON:0002127	45.14	gold quality
fallopian tube	UBERON:0003889	44.95	gold quality
nasal cavity epithelium	UBERON:0005384	44.87	gold quality
oviduct epithelium	UBERON:0004804	43.83	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
nasal cavity mucosa	UBERON:0001826	41.95	gold quality
medulla oblongata	UBERON:0001896	41.74	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	41.26	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

3 targeting SCGB1D1, 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-8062	99.88	68.43	995
HSA-MIR-17-3P	99.55	66.77	1311
HSA-MIR-382-3P	98.83	67.10	1074

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
rattus_norvegicus	Scgb1d2	ENSRNOG00000020294
rattus_norvegicus	Scgb1d4	ENSRNOG00000020301
rattus_norvegicus	AABR07006242.1	ENSRNOG00000028909
rattus_norvegicus		ENSRNOG00000074874

Paralogs (2): SCGB1D2 (ENSG00000124935), SCGB1D4 (ENSG00000197745)

Protein

Protein identifiers

Secretoglobin family 1D member 1 — O95968 (reviewed: O95968)

Alternative names: Lipophilin-A

All UniProt accessions (1): O95968

UniProt curated annotations — full annotation on UniProt →

Function. May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones.

Subunit / interactions. Heterodimer of a lipophilin A and a lipophilin C (mammaglobin B) monomer associated head to head.

Subcellular location. Secreted.

Tissue specificity. Expressed in lachrymal gland, thymus, kidney, testis, ovary and salivary gland.

Similarity. Belongs to the secretoglobin family. Lipophilin subfamily.

RefSeq proteins (1): NP_006543* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016126	Secretoglobin	Family
IPR035960	Secretoglobin_sf	Homologous_superfamily

Pfam: PF01099

UniProt features (2 total): signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95968-F1	89.74	0.67

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 624 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, MODULE_172, GOBP_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_EXCRETION, GOBP_DIGESTION, MODULE_97, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_EPITHELIUM_DEVELOPMENT, MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

470 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SCGB1D1	SCGB2A1	O75556	875
SCGB1D1	LCN1	P31025	647
SCGB1D1	LACRT	Q9GZZ8	620
SCGB1D1	GOLGA6C	A6NDK9	571
SCGB1D1	LYZL1	Q6UWQ5	544
SCGB1D1	WFDC6	Q9BQY6	479
SCGB1D1	SCGB2A2	Q13296	476
SCGB1D1	PRR4	Q16378	447
SCGB1D1	SCGB1C1	Q8TD33	447
SCGB1D1	LYZ	P00695	433
SCGB1D1	CST4	P01036	405
SCGB1D1	AZGP1	P25311	398
SCGB1D1	LTF	P02788	394
SCGB1D1	ZG16B	Q96DA0	383
SCGB1D1	PIP	P12273	370

IntAct

42 interactions, top by confidence:

A	B	Type	Score
SCGB1D1	MANBA	psi-mi:“MI:0914”(association)	0.640
SCGB1D1	CREB3L1	psi-mi:“MI:0915”(physical association)	0.560
SCGB1D1	SLC38A1	psi-mi:“MI:0915”(physical association)	0.560
SCGB1D1	OPRM1	psi-mi:“MI:0915”(physical association)	0.560
FFAR2	SCGB1D1	psi-mi:“MI:0915”(physical association)	0.560
SCGB1D1	CHODL	psi-mi:“MI:0915”(physical association)	0.560
SCGB1D1	FAM209A	psi-mi:“MI:0915”(physical association)	0.560
SCGB1D1	FAM234B	psi-mi:“MI:0914”(association)	0.530
DDX31	IGLL5	psi-mi:“MI:0914”(association)	0.530
HBM	SCGB2A1	psi-mi:“MI:0914”(association)	0.530
SUSD3	IGLL5	psi-mi:“MI:0914”(association)	0.350
SNX27	IGLL5	psi-mi:“MI:0914”(association)	0.350
POLL	SULT1C2	psi-mi:“MI:0914”(association)	0.350
CCDC148	SCGB2A1	psi-mi:“MI:0914”(association)	0.350
SLC2A6	SCGB2A1	psi-mi:“MI:0914”(association)	0.350
	SCGB1D1	psi-mi:“MI:0914”(association)	0.350
KCNIP4	SCGB1D1	psi-mi:“MI:0914”(association)	0.350
GOLGA8A	ZNF320	psi-mi:“MI:0914”(association)	0.350
OR13C3	POTEF	psi-mi:“MI:0914”(association)	0.350
GJB5	IGLL5	psi-mi:“MI:0914”(association)	0.350
SLC25A10	SCGB2A1	psi-mi:“MI:0914”(association)	0.350
ATP11C	SCGB2A1	psi-mi:“MI:0914”(association)	0.350
SCGB1D1	IGLL5	psi-mi:“MI:0914”(association)	0.350
SCGB1D1	OPRM1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (195): SCGB1D1 (Affinity Capture-MS), SCGB1D1 (Affinity Capture-MS), SCGB1D1 (Affinity Capture-MS), SCGB1D1 (Affinity Capture-MS), SCGB1D1 (Affinity Capture-MS), LIFR (Affinity Capture-MS), VWDE (Affinity Capture-MS), SEMA4D (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), ITGA3 (Affinity Capture-MS), PLXNA2 (Affinity Capture-MS), LEPR (Affinity Capture-MS), GPR98 (Affinity Capture-MS), SEL1L3 (Affinity Capture-MS), CLSTN1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M9PDM1, A0JNP2, O09051, O75556, O95968, O95969, P02779, P02780, P02781, P02782, P04769, P06913, P09320, P0DMR2, P11684, P17559, P28902, P30438, P30440, P33578, P33579, P33580, P33680, P70664, P70668, P79897, Q02747, Q05702, Q06318, Q0PGP2, Q13296, Q16661, Q28358, Q2VPS3, Q4G0G5, Q6UGQ3, Q6XE38, Q7M742, Q7M747, Q8CGZ9

Diamond homologs: A0JNP2, O95968, O95969, P02781, P02782, Q6XE38, P06913, P11684, P02779, P17559, Q06318, Q2VPS3, Q65C83, Q8MKG2, Q8VD96, Q9TS45

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	63
Likely pathogenic	86
Uncertain significance	256
Likely benign	276
Benign	36

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069094	NM_000235.4(LIPA):c.37del (p.Val13fs)	Pathogenic
1076884	NC_000010.10:g.(?91005423)(91007415_?)del	Pathogenic
1323237	NM_000235.4(LIPA):c.412G>T (p.Glu138Ter)	Pathogenic
1350454	NM_000235.4(LIPA):c.1024G>C (p.Gly342Arg)	Pathogenic
1383305	NM_000235.4(LIPA):c.771_774del (p.Leu256_Cys257insTer)	Pathogenic
1404815	NM_000235.4(LIPA):c.951T>A (p.Tyr317Ter)	Pathogenic
1417455	NM_000235.4(LIPA):c.854del (p.Pro285fs)	Pathogenic
1457231	NC_000010.10:g.(?90974565)(91007425_?)del	Pathogenic
1458797	NC_000010.10:g.(?90982258)(90988165_?)del	Pathogenic
1459690	NM_000235.4(LIPA):c.600_603dup (p.Pro202fs)	Pathogenic
1459866	NM_000235.4(LIPA):c.652C>T (p.Arg218Ter)	Pathogenic
1685926	NM_000235.4(LIPA):c.647T>A (p.Leu216Ter)	Pathogenic
1723279	NC_000010.10:g.(90986762_90987956)_(90988156_91005432)del	Pathogenic
2002860	NM_000235.4(LIPA):c.618dup (p.Ala207fs)	Pathogenic
2085713	NM_000235.4(LIPA):c.511del (p.Val171fs)	Pathogenic
208594	NM_000235.4(LIPA):c.253C>T (p.Gln85Ter)	Pathogenic
2145326	NM_000235.4(LIPA):c.984C>A (p.Tyr328Ter)	Pathogenic
2741248	NM_000235.4(LIPA):c.780_781del (p.Cys261fs)	Pathogenic
2746123	NM_000235.4(LIPA):c.78dup (p.Thr27fs)	Pathogenic
2808179	NM_000235.4(LIPA):c.964C>T (p.Gln322Ter)	Pathogenic
2836288	NM_000235.4(LIPA):c.618_627del (p.Ala207fs)	Pathogenic
2858809	NM_000235.4(LIPA):c.892del (p.Gln298fs)	Pathogenic
2865584	NM_000235.4(LIPA):c.245del (p.Val82fs)	Pathogenic
2877630	NM_000235.4(LIPA):c.293_295del (p.Asn98_Leu99delinsIle)	Pathogenic
289986	NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer)	Pathogenic
3244811	NC_000010.10:g.(?90974585)(91007408_?)del	Pathogenic
3244812	NC_000010.10:g.(?90974585)(90974838_?)del	Pathogenic
3244813	NC_000010.10:g.(?90974585)(90988175_?)del	Pathogenic
3244814	NC_000010.10:g.(?90974585)(90975786_?)del	Pathogenic
3338830	NM_000235.4(LIPA):c.229+1G>A	Pathogenic

SpliceAI

2651 predictions. Top by Δscore:

Variant	Effect	Δscore
10:89215057:TAACT:T	acceptor_gain	1.0000
10:89215058:AACT:A	acceptor_gain	1.0000
10:89215060:CT:C	acceptor_gain	1.0000
10:89215062:C:CC	acceptor_gain	1.0000
10:89215067:A:AC	acceptor_gain	1.0000
10:89216006:CAGC:C	acceptor_gain	1.0000
10:89216007:AGCC:A	acceptor_loss	1.0000
10:89216009:CCT:C	acceptor_loss	1.0000
10:89216010:C:CC	acceptor_gain	1.0000
10:89216011:T:A	acceptor_loss	1.0000
10:89222578:CTAGA:C	acceptor_gain	1.0000
10:89222579:TAGA:T	acceptor_gain	1.0000
10:89222583:C:CC	acceptor_gain	1.0000
10:89227005:C:CC	acceptor_gain	1.0000
10:89228218:T:TA	donor_gain	1.0000
10:89245670:CCATA:C	donor_loss	1.0000
10:89245672:ATAC:A	donor_loss	1.0000
10:89245673:TACCT:T	donor_loss	1.0000
10:89245674:A:AG	donor_loss	1.0000
10:89245675:C:A	donor_loss	1.0000
10:89245792:CT:C	acceptor_gain	1.0000
10:89245794:C:CC	acceptor_gain	1.0000
10:89247537:CCA:C	donor_gain	1.0000
10:89247646:CATT:C	acceptor_gain	1.0000
10:89247648:TT:T	acceptor_gain	1.0000
10:89247650:C:CC	acceptor_gain	1.0000
10:89305960:A:AG	acceptor_gain	1.0000
10:89305961:G:GG	acceptor_gain	1.0000
10:89338660:GTGA:G	acceptor_gain	1.0000
10:89383317:A:AG	acceptor_gain	1.0000

AlphaMissense

570 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:62192189:G:C	K63N	0.949
11:62192189:G:T	K63N	0.949
11:62192100:T:C	F34L	0.914
11:62192102:C:A	F34L	0.914
11:62192102:C:G	F34L	0.914
11:62192145:T:C	F49L	0.892
11:62192147:T:A	F49L	0.892
11:62192147:T:G	F49L	0.892
11:62192188:A:C	K63T	0.844
11:62192101:T:C	F34S	0.777
11:62192172:G:C	A58P	0.773
11:62192101:T:G	F34C	0.772
11:62192187:A:G	K63E	0.761
11:62192070:T:C	C24R	0.749
11:62192146:T:G	F49C	0.740
11:62192124:T:C	F42L	0.735
11:62192126:C:A	F42L	0.735
11:62192126:C:G	F42L	0.735
11:62192146:T:C	F49S	0.732
11:62192230:T:G	I77S	0.730
11:62192137:T:A	L46H	0.727
11:62192188:A:T	K63M	0.720
11:62192222:A:C	R74S	0.707
11:62192222:A:T	R74S	0.707
11:62192125:T:G	F42C	0.706
11:62192230:T:C	I77T	0.705
11:62192072:C:G	C24W	0.701
11:62192230:T:A	I77N	0.691
11:62192080:T:A	L27H	0.674
11:62192125:T:C	F42S	0.674

dbSNP variants (sampled 300 via entrez): RS1000071212 (11:62193135 C>T), RS1000499068 (11:62189657 G>A), RS1000960646 (11:62193310 G>A), RS1001103529 (11:62190685 G>A,C), RS1001263317 (11:62190834 T>C), RS1001365538 (11:62190183 A>G,T), RS1002130118 (11:62192500 T>A), RS1002182713 (11:62192798 G>A), RS1002467175 (11:62191105 T>C), RS1003316543 (11:62192697 G>A), RS1004344622 (11:62189250 G>A), RS1004965000 (11:62188248 T>C), RS1005405594 (11:62190236 A>C), RS1005764233 (11:62192482 C>A,T), RS1005988309 (11:62191257 T>C)

Disease associations

OMIM: gene MIM:615060 | disease phenotypes: MIM:620151, MIM:278000

GenCC curated gene-disease

Disease	Classification	Inheritance
lysosomal acid lipase deficiency	Definitive	Autosomal recessive
Wolman disease	Supportive	Autosomal recessive
cholesteryl ester storage disease	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
lysosomal acid lipase deficiency	Definitive	AR

Mondo (4): Wolman disease (MONDO:0019148), lysosomal acid lipase deficiency (MONDO:0800449), cholesteryl ester storage disease (MONDO:0019149), (MONDO:0010204)

Orphanet (3): Wolman disease (Orphanet:75233), Lysosomal acid lipase deficiency (Orphanet:275761), Cholesteryl ester storage disease (Orphanet:75234)

HPO phenotypes

52 total (30 of 52 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000846	Adrenal insufficiency
HP:0000952	Jaundice
HP:0000989	Pruritus
HP:0001263	Global developmental delay
HP:0001394	Cirrhosis
HP:0001395	Hepatic fibrosis
HP:0001397	Hepatic steatosis
HP:0001399	Hepatic failure
HP:0001405	Periportal fibrosis
HP:0001409	Portal hypertension
HP:0001433	Hepatosplenomegaly
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001522	Death in infancy
HP:0001538	Protuberant abdomen
HP:0001541	Ascites
HP:0001744	Splenomegaly
HP:0001873	Thrombocytopenia
HP:0001882	Decreased total leukocyte count
HP:0001903	Anemia
HP:0001945	Fever
HP:0001971	Hypersplenism
HP:0002013	Vomiting
HP:0002014	Diarrhea
HP:0002017	Nausea and vomiting
HP:0002040	Esophageal varix
HP:0002155	Hypertriglyceridemia
HP:0002240	Hepatomegaly
HP:0002570	Steatorrhea

GWAS associations

32 associations (top):

Study	Trait	p-value
GCST000999_18	Coronary heart disease	3.000000e-13
GCST001079_1	Coronary heart disease	4.000000e-08
GCST002446_1	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	4.000000e-274
GCST002446_7	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	3.000000e-21
GCST002449_6	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	0.000000e+00
GCST002449_8	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	7.000000e-147
GCST003116_22	Coronary artery disease	5.000000e-12
GCST003117_9	Myocardial infarction	3.000000e-13
GCST003194_27	Fibrinogen levels	2.000000e-08
GCST004613_18	Sum neutrophil eosinophil counts	6.000000e-09
GCST004629_91	Neutrophil count	7.000000e-09
GCST004787_47	Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease)	4.000000e-16
GCST005194_57	Coronary artery disease	3.000000e-22
GCST005195_9	Coronary artery disease	2.000000e-21
GCST005196_35	Coronary artery disease	2.000000e-24
GCST005956_12	Waist-to-hip ratio adjusted for BMI	2.000000e-06
GCST005956_2	Waist-to-hip ratio adjusted for BMI	1.000000e-08
GCST005962_37	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	5.000000e-07
GCST005962_51	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-07
GCST007614_20	C-reactive protein levels	2.000000e-09
GCST007615_30	C-reactive protein levels	3.000000e-08
GCST008957_4	Hormone measurements	2.000000e-07
GCST010479_15	Coronary artery disease	3.000000e-16
GCST010866_145	Coronary artery disease	4.000000e-29
GCST010867_71	Coronary artery disease	1.000000e-09
GCST011364_16	Myocardial infarction	2.000000e-09
GCST011365_38	Myocardial infarction	1.000000e-20
GCST011496_5	Abdominal aortic aneurysm	1.000000e-10
GCST90002389_450	Lymphocyte percentage of white cells	7.000000e-09
GCST90002398_179	Neutrophil count	3.000000e-21

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005680	omega-6 polyunsaturated fatty acid measurement
EFO:0004833	neutrophil count
EFO:0004842	eosinophil count
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004458	C-reactive protein measurement
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D015223	Wolman Disease	C16.320.565.398.641.201.500; C16.320.565.595.201.500; C16.614.947; C18.452.584.563.641.201.500; C18.452.648.398.641.201.500; C18.452.648.595.201.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
propionaldehyde	increases expression	1
potassium persulfate	increases expression	1
butyraldehyde	increases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Estradiol	affects cotreatment, increases expression	1
Progesterone	affects cotreatment, increases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01757184	PHASE3	COMPLETED	Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency
NCT00383448	PHASE2	COMPLETED	HSCT for High Risk Inherited Inborn Errors
NCT00668564	PHASE2	TERMINATED	Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
NCT01488097	PHASE2	COMPLETED	Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency
NCT02112994	PHASE2	COMPLETED	Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency
NCT02193867	PHASE2	TERMINATED	Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT04532047	PHASE1	RECRUITING	PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
NCT00176904	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Inborn Errors of Metabolism
NCT01371825	PHASE2/PHASE3	COMPLETED	Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency
NCT01307098	PHASE1/PHASE2	COMPLETED	Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase Deficiency
NCT00005900	Not specified	UNKNOWN	Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
NCT01358370	Not specified	COMPLETED	A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype
NCT01528917	Not specified	COMPLETED	An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype
NCT01633489	Not specified	RECRUITING	Lysosomal Acid Lipase (LAL) Deficiency Registry
NCT01716728	Not specified	UNKNOWN	Identification of Undiagnosed Lysosomal Acid Lipase Deficiency
NCT01884220	Not specified	COMPLETED	Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up
NCT02345421	Not specified	TERMINATED	A Study to Identify and Characterize LAL-D Patients in High-risk Populations
NCT02376751	Not specified	NO_LONGER_AVAILABLE	An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency
NCT02926872	Not specified	TERMINATED	Screening for Lysosomal Acid Lipase Deficiency
NCT03564002	Not specified	UNKNOWN	Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT03984149	Not specified	UNKNOWN	Lipa Gene Mutation in PED-LIPIGEN (Pediatric FH Subjects)
NCT04652713	Not specified	COMPLETED	Breakfast for Young Women
NCT04792671	Not specified	UNKNOWN	Prevalence and Risk Factors of Women Mental Health Disorders
NCT05368038	Not specified	ENROLLING_BY_INVITATION	ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
NCT05619900	Not specified	RECRUITING	Registry of Patients Diagnosed With Lysosomal Storage Diseases
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06287658	Not specified	UNKNOWN	The Effect of Kegel Exercise and Ba Duan Jin Applications on Premenopausal Women With Urinary Incontinence
NCT07455864	Not specified	RECRUITING	Lysosomal Acid Lipase Deficiency in Risk Groups
NCT01791452	Not specified	UNKNOWN	Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study
NCT02372513	Not specified	COMPLETED	National Lysosomal Acid Lipase Deficiency Study
NCT02383641	Not specified	WITHDRAWN	Biomarker for Wolman Disease (BioWolman)