IFT56

Summary

IFT56 (intraflagellar transport 56, HGNC:21882) is a protein-coding gene on chromosome 7q34, encoding Intraflagellar transport protein 56 (A0AVF1). Component of the intraflagellar transport (IFT) complex B required for transport of proteins in the motile cilium.

Predicted to enable intraciliary transport particle B binding activity. Involved in cilium assembly. Located in cilium. Part of intraciliary transport particle B.

Source: NCBI Gene 79989 — RefSeq curated summary.

At a glance

• Gene–disease (curated): biliary, renal, neurologic, and skeletal syndrome (Strong, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 150 total — 1 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 107
• MANE Select transcript: NM_024926

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21882
Approved symbol	IFT56
Name	intraflagellar transport 56
Location	7q34
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12571, dyf-13, DYF13
Ensembl gene	ENSG00000105948
Ensembl biotype	protein_coding
OMIM	617453
Entrez	79989

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 12 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000343187, ENST00000430935, ENST00000464848, ENST00000468866, ENST00000474035, ENST00000476296, ENST00000478836, ENST00000479132, ENST00000481482, ENST00000495038, ENST00000869891, ENST00000869892, ENST00000869893, ENST00000918349, ENST00000918350, ENST00000964570

RefSeq mRNA: 9 — MANE Select: NM_024926 NM_001144920, NM_001144923, NM_001287512, NM_001287513, NM_001318333, NM_001321740, NM_001321741, NM_001321742, NM_024926

CCDS: CCDS55172, CCDS55173, CCDS5852, CCDS75665, CCDS83230

Canonical transcript exons

ENST00000464848 — 18 exons

Exon	Start	End
ENSE00001944722	139189321	139191986
ENSE00002230160	139133778	139133860
ENSE00003467028	139160948	139161022
ENSE00003484288	139168344	139168397
ENSE00003501866	139181092	139181198
ENSE00003534411	139137847	139137939
ENSE00003549429	139169289	139169352
ENSE00003560076	139165132	139165234
ENSE00003575336	139178214	139178302
ENSE00003603771	139166840	139166895
ENSE00003604119	139178515	139178598
ENSE00003612366	139148206	139148377
ENSE00003616155	139147145	139147290
ENSE00003630401	139134655	139134792
ENSE00003636556	139179574	139179643
ENSE00003663981	139142256	139142305
ENSE00003677059	139187406	139187539
ENSE00003682166	139139890	139140004

Expression profiles

Bgee: expression breadth ubiquitous, 188 present calls, max score 94.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1546 / max 127.7383, expressed in 1581 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
81430	6.1546	1581

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	94.92	gold quality
epithelium of bronchus	UBERON:0002031	90.16	gold quality
bronchus	UBERON:0002185	88.78	gold quality
sperm	CL:0000019	86.01	gold quality
right uterine tube	UBERON:0001302	84.82	gold quality
mucosa of paranasal sinus	UBERON:0005030	84.31	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.10	gold quality
male germ cell	CL:0000015	83.55	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.94	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.51	gold quality
ventricular zone	UBERON:0003053	78.75	gold quality
right testis	UBERON:0004534	78.41	gold quality
calcaneal tendon	UBERON:0003701	78.28	gold quality
left testis	UBERON:0004533	78.22	gold quality
testis	UBERON:0000473	78.02	gold quality
adrenal tissue	UBERON:0018303	77.96	gold quality
islet of Langerhans	UBERON:0000006	77.77	gold quality
stromal cell of endometrium	CL:0002255	76.85	gold quality
choroid plexus epithelium	UBERON:0003911	76.39	gold quality
epithelium of nasopharynx	UBERON:0001951	75.25	silver quality
ganglionic eminence	UBERON:0004023	75.23	gold quality
cortical plate	UBERON:0005343	74.78	gold quality
caput epididymis	UBERON:0004358	74.61	gold quality
endometrium	UBERON:0001295	74.01	gold quality
right adrenal gland	UBERON:0001233	73.51	gold quality
right adrenal gland cortex	UBERON:0035827	73.13	gold quality
left adrenal gland	UBERON:0001234	72.79	gold quality
gall bladder	UBERON:0002110	72.20	gold quality
adrenal gland	UBERON:0002369	72.08	gold quality
left adrenal gland cortex	UBERON:0035825	71.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.38

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

110 targeting IFT56, 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-4533	100.00	69.48	2758
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-95-5P	99.89	72.17	3973

Literature-anchored findings (GeneRIF, showing 3)

• TTC26 is an intraflagellar transport protein required for transport of motility-related proteins into flagella. (PMID:24596149)
• Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans. (PMID:31595528)
• Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy. (PMID:32617964)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ift56	ENSDARG00000012039
mus_musculus	Ift56	ENSMUSG00000056832
rattus_norvegicus	Ift56	ENSRNOG00000027617
drosophila_melanogaster	Ttc26	FBGN0038358
caenorhabditis_elegans		WBGENE00001129

Protein

Protein identifiers

Intraflagellar transport protein 56 — A0AVF1 (reviewed: A0AVF1)

Alternative names: Tetratricopeptide repeat protein 26

All UniProt accessions (5): A0AVF1, B7Z2T3, B7Z6R6, F8WEZ4, Q96CU4

UniProt curated annotations — full annotation on UniProt →

Function. Component of the intraflagellar transport (IFT) complex B required for transport of proteins in the motile cilium. Required for transport of specific ciliary cargo proteins related to motility, while it is neither required for IFT complex B assembly or motion nor for cilium assembly. Required for efficient coupling between the accumulation of GLI2 and GLI3 at the ciliary tips and their dissociation from the negative regulator SUFU. Plays a key role in maintaining the integrity of the IFT complex B and the proper ciliary localization of the IFT complex B components. Not required for IFT complex A ciliary localization or function. Essential for maintaining proper microtubule organization within the ciliary axoneme.

Subunit / interactions. Component of the IFT complex B. Interacts with IFT46; the interaction is direct.

Subcellular location. Cell projection. Cilium.

Disease relevance. Biliary, renal, neurologic, and skeletal syndrome (BRENS) [MIM:619534] An autosomal recessive ciliopathy with multisystemic manifestations including severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis, postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the IFT56 family.

Isoforms (3)

UniProt ID	Names	Canonical?
A0AVF1-1	1	yes
A0AVF1-2	2
A0AVF1-3	3

RefSeq proteins (9): NP_001138392, NP_001138395, NP_001274441, NP_001274442, NP_001305262, NP_001308669, NP_001308670, NP_001308671, NP_079202* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR030511	TTC26	Family

UniProt features (14 total): repeat 4, sequence variant 3, sequence conflict 3, splice variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0AVF1-F1	91.82	0.84

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5620924	Intraflagellar transport

MSigDB gene sets: 392 (showing top): RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GTGCCTT_MIR506, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_SMOOTHENED_SIGNALING_PATHWAY, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY

GO Biological Process (10): smoothened signaling pathway (GO:0007224), protein transport (GO:0015031), axoneme assembly (GO:0035082), intraciliary anterograde transport (GO:0035720), intraciliary transport involved in cilium assembly (GO:0035735), intraciliary transport (GO:0042073), cilium assembly (GO:0060271), protein localization to cilium (GO:0061512), manchette assembly (GO:1905198), spermatid development (GO:0007286)

GO Molecular Function (2): intraciliary transport particle B binding (GO:0120170), protein binding (GO:0005515)

GO Cellular Component (9): centrosome (GO:0005813), cilium (GO:0005929), intraciliary transport particle A (GO:0030991), intraciliary transport particle B (GO:0030992), ciliary basal body (GO:0036064), neuron projection (GO:0043005), ciliary tip (GO:0097542), ciliary base (GO:0097546), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Assembly of the 9+0 primary cilium	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cilium	4
intraciliary transport particle	3
cellular anatomical structure	3
cellular component assembly	2
cilium assembly	2
intraciliary transport	2
cilium organization	2
microtubule organizing center	2
plasma membrane bounded cell projection	2
protein-containing complex	2
cell surface receptor signaling pathway	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
microtubule bundle formation	1
transport along microtubule	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
protein localization to organelle	1
spermatid development	1
germ cell development	1
spermatid differentiation	1
protein-containing complex binding	1
binding	1
centriole	1
membrane-bounded organelle	1
ciliary transition zone	1
ciliary transition fiber	1

Protein interactions and networks

STRING

934 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IFT56	IFT46	Q9NQC8	993
IFT56	IFT70B	Q8N4P2	966
IFT56	IFT88	Q13099	948
IFT56	IFT27	Q9BW83	932
IFT56	IFT54	Q8TDR0	920
IFT56	IFT25	Q9Y547	918
IFT56	IFT22	Q9H7X7	905
IFT56	IFT52	Q9Y366	896
IFT56	IFT57	Q9NWB7	884
IFT56	IFT81	Q8WYA0	874
IFT56	IFT38	Q96AJ1	866
IFT56	IFT74	Q96LB3	859
IFT56	IFT80	Q9P2H3	833
IFT56	IFT172	Q9UG01	831
IFT56	IFT20	Q8IY31	781

IntAct

81 interactions, top by confidence:

A	B	Type	Score
IFT56	IFT70A	psi-mi:“MI:0914”(association)	0.790
IFT70A	IFT56	psi-mi:“MI:0914”(association)	0.790
IFT70B	IFT56	psi-mi:“MI:0914”(association)	0.790
IFT25	IFT56	psi-mi:“MI:0914”(association)	0.690
IFT27	IFT56	psi-mi:“MI:0914”(association)	0.690
IFT22	IFT56	psi-mi:“MI:0914”(association)	0.640
IFT46	IFT56	psi-mi:“MI:0914”(association)	0.640
IFT88	IFT56	psi-mi:“MI:0914”(association)	0.640
IFT57	IFT56	psi-mi:“MI:0914”(association)	0.640

BioGRID (82): HK3 (Affinity Capture-MS), ZNF579 (Affinity Capture-MS), TTC26 (Affinity Capture-MS), TTC26 (Affinity Capture-MS), TTC26 (Affinity Capture-MS), TTC26 (Affinity Capture-MS), TTC26 (Affinity Capture-MS), UBXN10 (Affinity Capture-MS), VCP (Affinity Capture-MS), UFD1L (Affinity Capture-MS), NPLOC4 (Affinity Capture-MS), UBXN10 (Reconstituted Complex), TTC26 (Affinity Capture-MS), TTC26 (Affinity Capture-MS), TTC26 (Affinity Capture-MS)

ESM2 similar proteins: A0A0D1E2P6, A0A0D2XVZ5, A0A0P0VG31, A0AVF1, A2WYG9, A4III8, A4QP73, A8JA42, B5X0I6, C4NYP8, D3J162, F4JIN3, J9VKM5, O00170, O08915, O42668, O97628, P91240, Q0WT48, Q13217, Q17430, Q20255, Q27968, Q4R7Z9, Q54M21, Q5FWY5, Q5JJI4, Q5JNB5, Q5PR66, Q5U2N8, Q5ZI13, Q61LA1, Q6DKK2, Q7TT47, Q7XVN7, Q86DS1, Q8BS45, Q8CC21, Q8LQJ9, Q8S2A7

Diamond homologs: A0AVF1, A4III8, A8BS40, A8JA42, Q4R7Z9, Q57ZL2, Q5PR66, Q5U2N8, Q8BS45, Q95QT8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Intraflagellar transport	14	107.9×	1e-24
Hedgehog ‘off’ state	5	34.3×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
intraciliary anterograde transport	13	360.3×	2e-30
intraciliary transport	10	175.5×	4e-19
negative regulation of keratinocyte proliferation	5	109.7×	2e-08
keratinocyte proliferation	6	109.0×	5e-10
non-motile cilium assembly	7	63.6×	5e-10
smoothened signaling pathway	10	56.6×	5e-14
cilium assembly	14	32.2×	1e-16

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	61
Likely benign	52
Benign	11

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1299377	NM_024926.4(IFT56):c.1331C>T (p.Pro444Leu)	Pathogenic
3028903	NM_024926.4(IFT56):c.1069+1G>A	Likely pathogenic
917964	NM_024926.4(IFT56):c.788A>G (p.Asn263Ser)	Likely pathogenic

SpliceAI

2569 predictions. Top by Δscore:

Variant	Effect	Δscore
7:139137826:A:AG	acceptor_gain	1.0000
7:139137827:A:G	acceptor_gain	1.0000
7:139137829:T:G	acceptor_gain	1.0000
7:139137830:A:AG	acceptor_gain	1.0000
7:139137832:A:AG	acceptor_gain	1.0000
7:139137833:T:G	acceptor_gain	1.0000
7:139137838:A:AG	acceptor_gain	1.0000
7:139137838:AACCT:A	acceptor_gain	1.0000
7:139137839:A:G	acceptor_gain	1.0000
7:139140000:TAAAG:T	donor_loss	1.0000
7:139140001:AAAGG:A	donor_loss	1.0000
7:139140002:AAGGT:A	donor_loss	1.0000
7:139140003:AGGT:A	donor_loss	1.0000
7:139140005:GTAAA:G	donor_loss	1.0000
7:139140006:T:G	donor_loss	1.0000
7:139147054:G:GT	donor_gain	1.0000
7:139148336:GCCT:G	donor_gain	1.0000
7:139148387:G:GT	donor_gain	1.0000
7:139166891:CTCAG:C	donor_loss	1.0000
7:139166892:TCAG:T	donor_loss	1.0000
7:139166893:CAGGT:C	donor_loss	1.0000
7:139166894:AGGTA:A	donor_loss	1.0000
7:139166895:GGTAA:G	donor_loss	1.0000
7:139166896:G:GC	donor_loss	1.0000
7:139166897:T:G	donor_loss	1.0000
7:139168398:G:GG	donor_gain	1.0000
7:139178513:A:AG	acceptor_gain	1.0000
7:139178514:G:GG	acceptor_gain	1.0000
7:139178514:GA:G	acceptor_gain	1.0000
7:139178514:GAGTT:G	acceptor_gain	1.0000

AlphaMissense

3684 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:139139983:G:C	A110P	1.000
7:139147209:T:C	L155P	1.000
7:139147211:A:C	S156R	1.000
7:139147213:T:A	S156R	1.000
7:139147213:T:G	S156R	1.000
7:139147218:C:A	A158D	1.000
7:139147253:G:C	A170P	1.000
7:139139984:C:A	A110D	0.999
7:139142279:C:A	R125S	0.999
7:139142280:G:C	R125P	0.999
7:139142283:T:C	L126P	0.999
7:139142291:C:G	H129D	0.999
7:139142297:G:C	A131P	0.999
7:139147175:C:G	H144D	0.999
7:139147185:T:C	L147P	0.999
7:139147202:G:C	D153H	0.999
7:139147203:A:T	D153V	0.999
7:139147209:T:A	L155H	0.999
7:139147217:G:C	A158P	0.999
7:139147220:T:C	S159P	0.999
7:139147236:G:C	R164P	0.999
7:139147254:C:A	A170D	0.999
7:139148235:C:A	A192D	0.999
7:139148240:T:C	C194R	0.999
7:139148241:G:A	C194Y	0.999
7:139148242:C:G	C194W	0.999
7:139148271:C:T	S204F	0.999
7:139148312:A:C	S218R	0.999
7:139148314:T:A	S218R	0.999
7:139148314:T:G	S218R	0.999

dbSNP variants (sampled 300 via entrez): RS1000009137 (7:139155415 C>T), RS1000029123 (7:139175099 T>C), RS1000042011 (7:139175331 A>C), RS1000066498 (7:139155023 G>A), RS1000101529 (7:139167537 G>A,C), RS1000107651 (7:139188670 G>A), RS1000153372 (7:139133769 C>A,G,T), RS1000231294 (7:139139101 T>C,G), RS1000247946 (7:139163235 A>C,G,T), RS1000271261 (7:139147840 C>T), RS1000396075 (7:139170746 A>G), RS1000405896 (7:139170331 G>A), RS1000511064 (7:139184415 G>C), RS1000526121 (7:139132573 T>G), RS1000579649 (7:139173402 T>C)

Disease associations

OMIM: gene MIM:617453 | disease phenotypes: MIM:619534, MIM:600643

GenCC curated gene-disease

Disease	Classification	Inheritance
biliary, renal, neurologic, and skeletal syndrome	Strong	Autosomal recessive

Mondo (3): hydrocephalus (MONDO:0001150), biliary, renal, neurologic, and skeletal syndrome (MONDO:0859191), Caroli disease (MONDO:0010913)

Orphanet (1): Caroli disease (Orphanet:53035)

HPO phenotypes

107 total (30 of 107 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000083	Renal insufficiency
HP:0000126	Hydronephrosis
HP:0000232	Everted lower lip vermilion
HP:0000238	Hydrocephalus
HP:0000276	Long face
HP:0000311	Round face
HP:0000316	Hypertelorism
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000411	Protruding ear
HP:0000463	Anteverted nares
HP:0000490	Deeply set eye
HP:0000582	Upslanted palpebral fissure
HP:0000589	Coloboma
HP:0000873	Diabetes insipidus
HP:0000938	Osteopenia
HP:0000952	Jaundice
HP:0000969	Edema
HP:0001159	Syndactyly
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001382	Joint hypermobility
HP:0001394	Cirrhosis
HP:0001395	Hepatic fibrosis
HP:0001396	Cholestasis
HP:0001408	Bile duct proliferation

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002831_10	Lead levels in blood	1.000000e-07
GCST010988_173	Adult body size	1.000000e-10
GCST010989_128	Body size at age 10	1.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009819	comparative body size at age 10, self-reported

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D016767	Caroli Disease	C06.130.120.127.500; C06.198.184.500; C16.131.077.245.250; C16.131.314.184.500; C16.320.184.250
D006849	Hydrocephalus	C10.228.140.602

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
bisphenol A	decreases methylation	1
trichostatin A	decreases expression	1
potassium chromate(VI)	increases expression	1
nickel sulfate	increases expression	1
CGP 52608	affects binding, increases reaction	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Air Pollutants	increases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Estradiol	affects expression	1
Methyl Methanesulfonate	increases expression	1
Silicon Dioxide	increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Vanadates	decreases expression	1
Aflatoxin M1	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01323764	PHASE4	COMPLETED	ShuntCheck Versus Radionuclide in Evaluating Shunt Function in Symptomatic NPH Patients
NCT01685450	PHASE4	UNKNOWN	NIMIP: Non Invasive Measurement of the Intracranial Pressure
NCT03513757	PHASE4	COMPLETED	Dexmedetomidine and Propofol for Pediatric MRI Sedation
NCT07547826	PHASE4	NOT_YET_RECRUITING	Efficacy and Cost-Effectiveness of Topical Vancomycin Powder in Preventing Pediatric Ventriculoperitoneal Shunt Infections Across Different Etiologies
NCT00196196	PHASE3	COMPLETED	A Precision and Accuracy Study of the Codman Valve Position Verification (VPV) System.
NCT00286104	PHASE3	COMPLETED	Impact of Ventricular Catheter Used With Antimicrobial Agents on Patients With a Ventricular Catheter
NCT01936272	PHASE3	ACTIVE_NOT_RECRUITING	Randomized Controlled Trial of Shunt vs ETV/CPC for PIH in Ugandan Infants
NCT02425761	PHASE3	UNKNOWN	The CSF Shunt Entry Site Trial
NCT02512809	PHASE3	TERMINATED	Isoflurane-induced Neuroinflammation in Children With Hydrocephalus
NCT04177914	PHASE3	RECRUITING	HCRN Endoscopic Versus Shunt Treatment of Hydrocephalus in Infants
NCT00652470	PHASE2	COMPLETED	A Study Comparing Two Treatments for Infants With Hydrocephalus
NCT05001750	PHASE1	RECRUITING	Prophylactic Antibiotics Useful With Antibiotic Impregnated External Ventricular Drains (EVDs)?
NCT01878136	PHASE1/PHASE2	WITHDRAWN	Effect of Intraventricular tPA Following Aneurysmal Subarachnoid Hemorrhage
NCT05476874	PHASE1/PHASE2	UNKNOWN	Improvement of Peritoneal Catheter Placement in VPS With a Splitable Trocar
NCT00001327	Not specified	COMPLETED	Establishing the Physiology of Syringomyelia
NCT00280904	Not specified	COMPLETED	A Registry for Comparing Catheter-Related Infection Rates Among Various Shunt Systems in the Treatment of Hydrocephalus
NCT00651950	Not specified	WITHDRAWN	Bench Study of Transcutaneous Hydrocephalic Shunt Flow Sensor Alignment Accuracy and Repeatability
NCT00652197	Not specified	COMPLETED	Monitoring Patient Cerebro-Spinal Fluid Drainage With an Ultrasonic Flow Sensor
NCT00652249	Not specified	WITHDRAWN	Diagnosing Malfunctioning Hydrocephalic Shunt Valves With a Flow Sensor
NCT00692744	Not specified	COMPLETED	Quality of Life in Elderly After Aneurysmal Subarachnoid Hemorrhage (SAH)
NCT00743457	Not specified	COMPLETED	Study of Ultrasound of the Eye for Children With Suspected Shunt Failure
NCT00875758	Not specified	COMPLETED	Optimizing Treatment of Post-hemorrhagic Ventricular Dilation in Preterm Infants
NCT00886054	Not specified	UNKNOWN	The Prediction of Intracranial Pressure and Clinical Outcome by Transcranial Doppler in Neurocritical Patients
NCT00946127	Not specified	TERMINATED	ETV Versus Shunt Surgery in Normal Pressure Hydrocephalus
NCT01108965	Not specified	COMPLETED	Study of Shunt Flow Sensor Accuracy in Extra-ventricular Drains.
NCT01191307	Not specified	TERMINATED	Assess Specific Kinds of Children Challenges for Neurologic Devices Study
NCT01556178	Not specified	COMPLETED	Blood and Cerebrospinal Fluid for Pediatric Brain Tumor Research
NCT01797627	Not specified	COMPLETED	Ventricular Size Involvement in Neuropsychological Outcomes in Pediatric Hydrocephalus
NCT01799018	Not specified	COMPLETED	Role of Proteomics and Metallomics in Cerebral Vasospasm Following Subarachnoid Hemorrhage
NCT01811589	Not specified	COMPLETED	Guided Application of Ventricular Catheters
NCT01863329	Not specified	TERMINATED	Comparison of Optic Nerve Sheath Diameter on Retrobulbar Ultrasound Before and After Drainage of Cerebrospinal Fluid in Patient With Hydrocephalus
NCT01863381	Not specified	TERMINATED	Comparison of Continuous Non-Invasive and Invasive Intracranial Pressure Measurement
NCT01865149	Not specified	UNKNOWN	Comparison of Optic Nerve Sheath Diameter on Retrobulbar Ultrasonography Before and After Drainage of Cerebrospinal Fluid in Pediatric Patient With Hydrocephalus
NCT01973764	Not specified	TERMINATED	Intraventricular Drain Insertion: Comparison of Ultrasound-guided and Landmark-based Puncture of the Ventricular System
NCT01976559	Not specified	COMPLETED	Comparison of Continuous Noninvasive and Invasive Intracranial Pressure Measurement–Celda Infusion Subprotocol
NCT02067364	Not specified	UNKNOWN	CRT ShuntCheck Fit & Function Study
NCT02230124	Not specified	ACTIVE_NOT_RECRUITING	Magnetic Resonance Elastography in Hydrocephalus
NCT02381977	Not specified	COMPLETED	Prevalence of Acute Critical Neurological Disease in Children: a Global Epidemiological Assessment
NCT02404740	Not specified	COMPLETED	Noninvasive Intracranial Pressure and Hydrocephalus Patients
NCT02408757	Not specified	TERMINATED	Sonographic Monitoring of Weaning of Cerebrospinal Fluid Drainages