DNAH14

Summary

DNAH14 (dynein axonemal heavy chain 14, HGNC:2945) is a protein-coding gene on chromosome 1q42.12, encoding Dynein axonemal heavy chain 14 (Q0VDD8). Force generating protein of respiratory cilia.

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).

Source: NCBI Gene 127602 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC) — +1 more curated relationship
• GWAS associations: 10
• Clinical variants (ClinVar): 991 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001367479

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2945
Approved symbol	DNAH14
Name	dynein axonemal heavy chain 14
Location	1q42.12
Locus type	gene with protein product
Status	Approved
Aliases	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277
Ensembl gene	ENSG00000185842
Ensembl biotype	protein_coding
OMIM	603341
Entrez	127602

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 14 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000327794, ENST00000328556, ENST00000366848, ENST00000366849, ENST00000366850, ENST00000400952, ENST00000428003, ENST00000430092, ENST00000433124, ENST00000439375, ENST00000445597, ENST00000450490, ENST00000453375, ENST00000474127, ENST00000474801, ENST00000486657, ENST00000495456, ENST00000498360, ENST00000638635, ENST00000682510

RefSeq mRNA: 6 — MANE Select: NM_001367479 NM_001145154, NM_001349911, NM_001349912, NM_001367479, NM_001367481, NM_144989

CCDS: CCDS41472, CCDS44322, CCDS86053, CCDS91163

Canonical transcript exons

ENST00000682510 — 86 exons

Exon	Start	End
ENSE00001291490	225304908	225305089
ENSE00001291590	225324222	225324353
ENSE00001292793	225308285	225308410
ENSE00001294493	225322664	225322823
ENSE00001298711	225333291	225333506
ENSE00001298981	225277410	225277502
ENSE00001309607	225318583	225318677
ENSE00001311369	225275914	225276081
ENSE00001312350	225307461	225307569
ENSE00001316648	225324737	225324832
ENSE00001370047	225337266	225337496
ENSE00001373449	225338061	225338182
ENSE00001442749	225331437	225331577
ENSE00001551911	225123527	225123614
ENSE00001612056	225340457	225340701
ENSE00001622120	225159314	225159485
ENSE00001694013	225140768	225141021
ENSE00002204337	225204183	225204273
ENSE00002206457	225097118	225097239
ENSE00002210816	225240593	225240822
ENSE00002212321	225042835	225043114
ENSE00002215599	225353803	225353888
ENSE00002218793	225289885	225290082
ENSE00002221312	225266641	225266769
ENSE00002230531	225303156	225303347
ENSE00002238484	225051451	225051795
ENSE00002239538	225043744	225043789
ENSE00002243004	225345962	225346380
ENSE00002248392	225082549	225082739
ENSE00002248456	225117881	225117999
ENSE00002249637	224967431	224967583
ENSE00002250055	225100713	225100884
ENSE00002258577	225398520	225398666
ENSE00002260099	225206968	225207220
ENSE00002261161	225265182	225265369
ENSE00002264774	225007413	225007544
ENSE00002265129	225264197	225264261
ENSE00002266462	225152697	225152883
ENSE00002268510	225023615	225023865
ENSE00002272629	225271906	225272073
ENSE00002275146	225367805	225368032
ENSE00002280652	225259121	225259253
ENSE00002281506	225117684	225117788
ENSE00002282889	225002783	225002927
ENSE00002285699	225038694	225038823
ENSE00002286252	225205971	225206179
ENSE00002288978	224974091	224974153
ENSE00002293521	225043886	225043983
ENSE00002293599	225152005	225152073
ENSE00002296121	225050210	225050376
ENSE00002297883	225167939	225168028
ENSE00002300027	225185291	225185425
ENSE00002300061	225231073	225231151
ENSE00002300802	225257960	225258118
ENSE00002303079	225147104	225147249
ENSE00002303899	225351647	225351883
ENSE00002305815	225270735	225270866
ENSE00002308947	225079207	225079548
ENSE00002311786	225272955	225273125
ENSE00002311891	225080379	225080748
ENSE00002312665	225153750	225153826
ENSE00002313056	225252301	225252417
ENSE00002316026	225346456	225346654
ENSE00002319871	225192696	225192911
ENSE00002320138	225300869	225301030
ENSE00002322086	225119220	225119294
ENSE00002324419	225085544	225085789
ENSE00003467275	225380159	225380322
ENSE00003476119	224952670	224952779
ENSE00003504090	224954959	224955098
ENSE00003521560	225358496	225358652
ENSE00003531733	224964479	224964609
ENSE00003566641	225389734	225389873
ENSE00003566713	225381383	225381579
ENSE00003570764	224960153	224960302
ENSE00003581183	225144397	225144628
ENSE00003596361	225145326	225145379
ENSE00003601139	225392291	225392451
ENSE00003654369	225364792	225364894
ENSE00003675132	225388379	225388491
ENSE00003680539	224968759	224968874
ENSE00003681209	225360681	225360891
ENSE00003917016	225374688	225374885
ENSE00003918793	225399054	225399286
ENSE00003919613	225377237	225377436
ENSE00003921705	224929675	224929835

Expression profiles

Bgee: expression breadth ubiquitous, 172 present calls, max score 89.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.8865 / max 240.6436, expressed in 1551 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
8813	10.4078	1454
8816	2.2169	958
8812	0.6647	331
8815	0.5581	330
8817	0.4084	246
8814	0.3319	166
8818	0.2986	131

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	89.75	gold quality
right testis	UBERON:0004534	89.53	gold quality
adrenal tissue	UBERON:0018303	88.21	gold quality
testis	UBERON:0000473	86.80	gold quality
body of pancreas	UBERON:0001150	86.73	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.41	gold quality
adenohypophysis	UBERON:0002196	85.54	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.48	gold quality
buccal mucosa cell	CL:0002336	84.69	gold quality
pancreas	UBERON:0001264	84.09	gold quality
pituitary gland	UBERON:0000007	82.97	gold quality
islet of Langerhans	UBERON:0000006	82.85	gold quality
ventricular zone	UBERON:0003053	82.70	gold quality
colonic epithelium	UBERON:0000397	82.66	gold quality
right lobe of liver	UBERON:0001114	81.71	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	81.64	gold quality
left ovary	UBERON:0002119	80.94	gold quality
right uterine tube	UBERON:0001302	80.69	gold quality
metanephros cortex	UBERON:0010533	80.37	gold quality
right adrenal gland cortex	UBERON:0035827	80.01	gold quality
right ovary	UBERON:0002118	79.54	gold quality
left lobe of thyroid gland	UBERON:0001120	79.27	gold quality
left adrenal gland cortex	UBERON:0035825	78.81	gold quality
left adrenal gland	UBERON:0001234	78.67	gold quality
right adrenal gland	UBERON:0001233	78.64	gold quality
thyroid gland	UBERON:0002046	78.52	gold quality
ganglionic eminence	UBERON:0004023	78.26	gold quality
right lobe of thyroid gland	UBERON:0001119	77.99	gold quality
spinal cord	UBERON:0002240	77.90	gold quality
adrenal gland	UBERON:0002369	77.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	9.86
E-ANND-3	yes	8.99

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 4)

• Genetic variants within DNAH6, DNAH14, and DNAAF3 are associated with variation in lung function among persons with cystic fibrosis. (PMID:29323929)
• Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China. (PMID:33577779)
• DNAH14 variants are associated with neurodevelopmental disorders. (PMID:35438214)
• Circular RNA DNAH14 molecular mechanism in an experimental model of hepatocellular carcinoma treated with Cobalt chloride to mimic the hypoxia-like response of transcatheter arterial chemoembolization. (PMID:38263208)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dnah14	ENSMUSG00000047369
rattus_norvegicus	Dnah14	ENSRNOG00000070092

Paralogs (15): DNAH9 (ENSG00000007174), DNAH5 (ENSG00000039139), DNAH11 (ENSG00000105877), DNAH1 (ENSG00000114841), DNAH6 (ENSG00000115423), DNAH7 (ENSG00000118997), DNAH8 (ENSG00000124721), DNAH3 (ENSG00000158486), DNAH12 (ENSG00000174844), DNHD1 (ENSG00000179532), DNAH2 (ENSG00000183914), DYNC2H1 (ENSG00000187240), DNAH17 (ENSG00000187775), DYNC1H1 (ENSG00000197102), DNAH10 (ENSG00000197653)

Protein

Protein identifiers

Dynein axonemal heavy chain 14 — Q0VDD8 (reviewed: Q0VDD8)

Alternative names: Axonemal beta dynein heavy chain 14, Ciliary dynein heavy chain 14

All UniProt accessions (11): A0A1W2PR53, A0A804HLD3, Q0VDD8, H0YBB1, H0YBI3, H7BXS7, H7C164, H7C374, H7C3Z3, H9KV43, M9MMK7

UniProt curated annotations — full annotation on UniProt →

Function. Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly.

Subunit / interactions. Consists of at least two heavy chains and a number of intermediate and light chains.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme.

Domain organisation. Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.

Similarity. Belongs to the dynein heavy chain family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q0VDD8-1	1	yes
Q0VDD8-2	2
Q0VDD8-3	3
Q0VDD8-4	4

RefSeq proteins (6): NP_001138626, NP_001336840, NP_001336841, NP_001354408, NP_001354410, NP_659426 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024317	Dhc_D4	Domain
IPR024743	Dynein_HC_stalk	Domain
IPR026983	DHC	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR035699	Dhc_AAA	Domain
IPR035706	AAA_9	Domain
IPR041228	Dhc_C	Domain
IPR041466	Dhc_AAA5_ext	Domain
IPR043157	Dynein_AAA1S	Homologous_superfamily
IPR043160	Dynein_C_barrel	Homologous_superfamily

Pfam: PF12774, PF12775, PF12777, PF12780, PF12781, PF17852, PF18199

UniProt features (30 total): splice variant 19, sequence variant 3, binding site 2, chain 1, region of interest 1, coiled-coil region 1, sequence conflict 1, short sequence motif 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q0VDD8 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

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

Ligand- & substrate-binding residues (2): 1164–1171; 1427–1434

Glycosylation sites (1): 1818

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 82 (showing top): GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_MOVEMENT, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOCC_CENTROSOME, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_DYNEIN_COMPLEX, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY, GOMF_MICROTUBULE_MOTOR_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_ISOMERASE_ACTIVITY, RAO_BOUND_BY_SALL4_ISOFORM_B, GOCC_9PLUS2_MOTILE_CILIUM

GO Biological Process (2): cilium movement involved in cell motility (GO:0060294), microtubule-based movement (GO:0007018)

GO Molecular Function (6): ATP binding (GO:0005524), minus-end-directed microtubule motor activity (GO:0008569), dynein intermediate chain binding (GO:0045505), dynein light intermediate chain binding (GO:0051959), nucleotide binding (GO:0000166), ATP hydrolysis activity (GO:0016887)

GO Cellular Component (9): microtubule (GO:0005874), axoneme (GO:0005930), dynein complex (GO:0030286), 9+2 motile cilium (GO:0097729), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), axonemal dynein complex (GO:0005858), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
protein binding	2
cilium movement	1
cell motility	1
cilium-dependent cell motility	1
microtubule-based process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
microtubule motor activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
microtubule associated complex	1
catalytic complex	1
radial spoke	1
motile cilium	1
inner dynein arm	1
outer dynein arm	1
axonemal central pair	1
axonemal doublet microtubule	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
axoneme	1
dynein complex	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

27 interactions, top by confidence:

A	B	Type	Score
RELL2	OXSR1	psi-mi:“MI:0914”(association)	0.830
CETN1	SFI1	psi-mi:“MI:0914”(association)	0.640
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
DLK1	TCAF2	psi-mi:“MI:0914”(association)	0.530
IGSF8	CLGN	psi-mi:“MI:0914”(association)	0.530
IMPDH1	BCAT2	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
DNAH14	PDIA3	psi-mi:“MI:0915”(physical association)	0.400
P		psi-mi:“MI:0914”(association)	0.350
CTLA4	TMEM120B	psi-mi:“MI:0914”(association)	0.350
PIPSL	C1orf226	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
ZNRD2	KRBA1	psi-mi:“MI:0914”(association)	0.350
CAMK2A	SMCHD1	psi-mi:“MI:0914”(association)	0.350
MICB	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
CAMK2D	SETD1A	psi-mi:“MI:0914”(association)	0.350
TNFRSF1B	MAP3K7	psi-mi:“MI:0914”(association)	0.350
IKZF5	PEX14	psi-mi:“MI:0914”(association)	0.350
LHFPL2	SRC	psi-mi:“MI:0914”(association)	0.350
DNAH14	CETN2	psi-mi:“MI:0914”(association)	0.350
CAMK2A	MAP3K7	psi-mi:“MI:0914”(association)	0.350
CAMK2D	PPM1D	psi-mi:“MI:0914”(association)	0.350
FTL		psi-mi:“MI:0914”(association)	0.350

BioGRID (44): DNAH14 (Affinity Capture-MS), DNAH14 (Affinity Capture-MS), CETN2 (Affinity Capture-MS), DNAH14 (Affinity Capture-MS), DNAH14 (Affinity Capture-MS), DNAH14 (Affinity Capture-MS), DNAH14 (Affinity Capture-MS), DNAH14 (Affinity Capture-MS), CETN2 (Affinity Capture-MS), DNAH14 (Affinity Capture-MS), GFAP (Affinity Capture-MS), DNAH14 (Affinity Capture-MS), DNAH14 (Affinity Capture-RNA), DNAH14 (Biochemical Activity), DNAH14 (Affinity Capture-MS)

ESM2 similar proteins: A2AKX3, A4IJ27, A4QNW7, A5WUT8, A5WWB6, A6H7E2, A6QM04, A9CB91, B1WBT0, C9JQI7, E1BC15, F1MF21, F5H4B4, O08648, O36397, O75969, P0C137, P0C139, P0C142, Q02484, Q0P4G8, Q0VDD8, Q12912, Q3TTJ4, Q4R7D5, Q5CZC0, Q5GJ75, Q5K6N0, Q63164, Q641I1, Q66HB6, Q67402, Q6AXP3, Q6IRT3, Q6NRW0, Q6NS59, Q7Z333, Q810N5, Q8BJS8, Q8C4J0

Diamond homologs: Q0VDD8, Q3V0Q1, Q6ZR08, Q923J6, E9Q8T7, M0R8U1, P37276, P38650, Q19020, Q27171, Q27802, Q39610, Q63164, Q63170, Q8BW94, Q8TD57, Q8WXX0, Q9JHU4, Q9P2D7, Q9SMH5, P78716, Q14204, Q9C0G6, P34036, P45444

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	821
Likely benign	68
Benign	29

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1678644	NM_001367479.1(DNAH14):c.6166C>T (p.Arg2056Ter)	Pathogenic
2683757	NM_001367479.1(DNAH14):c.3697C>T (p.Gln1233Ter)	Likely pathogenic

SpliceAI

15360 predictions. Top by Δscore:

Variant	Effect	Δscore
1:224952669:GCCA:G	acceptor_gain	1.0000
1:224952786:G:GG	donor_gain	1.0000
1:224954957:A:AG	acceptor_gain	1.0000
1:224954958:G:GC	acceptor_gain	1.0000
1:224954958:GA:G	acceptor_gain	1.0000
1:224954958:GAC:G	acceptor_gain	1.0000
1:224954958:GACT:G	acceptor_gain	1.0000
1:224954958:GACTT:G	acceptor_gain	1.0000
1:224955095:GAAG:G	donor_gain	1.0000
1:224955096:AAGG:A	donor_loss	1.0000
1:224955099:G:GA	donor_loss	1.0000
1:224967423:A:AG	acceptor_gain	1.0000
1:224967424:A:AG	acceptor_gain	1.0000
1:224967425:T:G	acceptor_gain	1.0000
1:224967426:CTCAG:C	acceptor_loss	1.0000
1:224967428:CAGAA:C	acceptor_loss	1.0000
1:224967429:A:AG	acceptor_gain	1.0000
1:224967430:G:GG	acceptor_gain	1.0000
1:224967430:GA:G	acceptor_gain	1.0000
1:224967430:GAA:G	acceptor_gain	1.0000
1:224967430:GAAA:G	acceptor_gain	1.0000
1:224967430:GAAAC:G	acceptor_gain	1.0000
1:225023861:ATCAG:A	donor_loss	1.0000
1:225023862:TCAG:T	donor_loss	1.0000
1:225023863:CAG:C	donor_loss	1.0000
1:225023864:AGG:A	donor_loss	1.0000
1:225023865:GGT:G	donor_loss	1.0000
1:225023866:G:A	donor_loss	1.0000
1:225023867:T:A	donor_loss	1.0000
1:225038687:A:AG	acceptor_gain	1.0000

AlphaMissense

30671 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:225192795:T:A	W1497R	0.995
1:225192795:T:C	W1497R	0.995
1:225205985:T:A	W1571R	0.995
1:225205985:T:C	W1571R	0.995
1:225324315:T:A	W2451R	0.995
1:225324315:T:C	W2451R	0.995
1:225240675:T:A	W1774R	0.993
1:225240675:T:C	W1774R	0.993
1:225381574:T:A	W3248R	0.993
1:225381574:T:C	W3248R	0.993
1:225388457:T:A	W3276R	0.993
1:225388457:T:C	W3276R	0.993
1:224967455:T:C	F302L	0.990
1:224967457:T:A	F302L	0.990
1:224967457:T:G	F302L	0.990
1:225388428:T:C	L3266P	0.990
1:225207173:T:C	L1704P	0.989
1:225252375:T:A	W1848R	0.989
1:225252375:T:C	W1848R	0.989
1:225303276:T:A	W2172R	0.988
1:225303276:T:C	W2172R	0.988
1:225240667:C:A	A1771D	0.987
1:225388437:G:C	R3269P	0.987
1:224967510:T:C	L320P	0.986
1:225007446:T:C	F356L	0.986
1:225007448:T:A	F356L	0.986
1:225007448:T:G	F356L	0.986
1:225322707:G:C	A2381P	0.986
1:225351781:T:A	W2915R	0.986
1:225351781:T:C	W2915R	0.986

dbSNP variants (sampled 300 via entrez): RS1000000294 (1:225208987 T>C), RS1000004991 (1:225396296 CG>C), RS1000011449 (1:225172669 G>A), RS1000016970 (1:224962909 C>G), RS1000027075 (1:225359424 T>C), RS1000032818 (1:225314038 T>C), RS1000037173 (1:225156515 A>G), RS1000064288 (1:225059137 C>T), RS1000066745 (1:225236083 T>G), RS1000079531 (1:225258968 C>G), RS1000084123 (1:225214542 T>C), RS1000089004 (1:225083739 T>C), RS1000089983 (1:224963208 T>A), RS1000094708 (1:225381001 AT>A,ATT), RS1000096006 (1:225036197 G>A)

Disease associations

OMIM: gene MIM:603341 | disease phenotypes: MIM:236750

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
primary ciliary dyskinesia	Disputed	AR

Mondo (3): neurodevelopmental disorder (MONDO:0700092), non-immune hydrops fetalis (MONDO:0009369), microcephaly (MONDO:0001149)

Orphanet (1): Non-immune hydrops fetalis (Orphanet:363999)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000252	Microcephaly

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST002938_18	Copper levels	2.000000e-06
GCST005851_25	Delirium	4.000000e-06
GCST006948_11	Feeling nervous	3.000000e-09
GCST008876_41	Non-lobar intracerebral hemorrhage (MTAG)	9.000000e-06
GCST010988_271	Adult body size	3.000000e-08
GCST012489_84	Heel bone mineral density x serum urate levels interaction	6.000000e-09
GCST012490_16	Femur bone mineral density x serum urate levels interaction	3.000000e-13
GCST90002392_254	Mean corpuscular volume	2.000000e-12
GCST90002397_752	Mean spheric corpuscular volume	5.000000e-10
GCST90006987_6	Gut microbiota relative abundance (Bifidobacterium)	3.000000e-06

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0009597	feeling nervous measurement
EFO:0010178	non-lobar intracerebral hemorrhage
EFO:0004531	urate measurement
EFO:0009270	heel bone mineral density
EFO:0007874	gut microbiome measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	increases expression	1
TAK-243	increases sumoylation	1
methylmercuric chloride	increases expression	1
beta-lapachone	decreases expression, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
manganese chloride	decreases expression	1
benzo(e)pyrene	increases methylation	1
abrine	increases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Gold	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Manganese	decreases expression	1
Methapyrilene	increases methylation	1
Oxygen	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	increases expression, affects cotreatment	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	increases expression	1
Particulate Matter	increases expression, increases abundance	1

Clinical trials (associated diseases)

202 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,
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
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
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
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice