C12orf57

Summary

C12orf57 (chromosome 12 open reading frame 57, HGNC:29521) is a protein-coding gene on chromosome 12p13.31, encoding Protein C10 (Q99622). In brain, may be required for corpus callosum development.

This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 113246 — RefSeq curated summary.

At a glance

• Gene–disease (curated): temtamy syndrome (Definitive, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 304 total — 14 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 37
• MANE Select transcript: NM_138425

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29521
Approved symbol	C12orf57
Name	chromosome 12 open reading frame 57
Location	12p13.31
Locus type	gene with protein product
Status	Approved
Aliases	GRCC10, C10
Ensembl gene	ENSG00000111678
Ensembl biotype	protein_coding
OMIM	615140
Entrez	113246

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000229281, ENST00000537087, ENST00000538392, ENST00000540506, ENST00000542222, ENST00000544681, ENST00000545581, ENST00000852280, ENST00000921170

RefSeq mRNA: 5 — MANE Select: NM_138425 NM_001301834, NM_001301836, NM_001301837, NM_001301838, NM_138425

CCDS: CCDS76515, CCDS76516, CCDS8571

Canonical transcript exons

ENST00000229281 — 3 exons

Exon	Start	End
ENSE00001045191	6944022	6944173
ENSE00002227940	6945771	6946002
ENSE00003477826	6944476	6944652

Expression profiles

Bgee: expression breadth ubiquitous, 145 present calls, max score 99.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 130.7357 / max 1476.2805, expressed in 1812 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
123845	80.6683	1806
123847	27.0244	1715
123846	20.9372	1742
123844	2.0836	696
123848	1.3038	806
123849	0.4909	220
123843	0.3111	73

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
thymus	UBERON:0002370	99.96	gold quality
left ovary	UBERON:0002119	99.47	gold quality
endocervix	UBERON:0000458	99.40	gold quality
ganglionic eminence	UBERON:0004023	99.40	gold quality
embryo	UBERON:0000922	99.39	gold quality
right ovary	UBERON:0002118	99.39	gold quality
pituitary gland	UBERON:0000007	99.35	gold quality
ovary	UBERON:0000992	99.35	gold quality
adenohypophysis	UBERON:0002196	99.30	gold quality
cortical plate	UBERON:0005343	99.28	gold quality
body of uterus	UBERON:0009853	99.26	gold quality
mucosa of stomach	UBERON:0001199	99.22	gold quality
ascending aorta	UBERON:0001496	99.20	gold quality
thoracic aorta	UBERON:0001515	99.19	gold quality
left uterine tube	UBERON:0001303	99.17	gold quality
left coronary artery	UBERON:0001626	99.14	gold quality
descending thoracic aorta	UBERON:0002345	99.13	gold quality
popliteal artery	UBERON:0002250	99.12	gold quality
tibial artery	UBERON:0007610	99.12	gold quality
skin of leg	UBERON:0001511	99.09	gold quality
right coronary artery	UBERON:0001625	99.05	gold quality
prostate gland	UBERON:0002367	99.05	gold quality
zone of skin	UBERON:0000014	98.98	gold quality
primary visual cortex	UBERON:0002436	98.97	gold quality
fallopian tube	UBERON:0003889	98.97	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.97	gold quality
skin of abdomen	UBERON:0001416	98.95	gold quality
hypothalamus	UBERON:0001898	98.94	gold quality
myometrium	UBERON:0001296	98.92	gold quality
right atrium auricular region	UBERON:0006631	98.90	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	80.28
E-HCAD-10	yes	51.83
E-CURD-112	yes	39.25
E-CURD-88	yes	33.39
E-GEOD-125970	yes	27.16
E-HCAD-13	yes	24.41
E-MTAB-10042	yes	7.76
E-CURD-77	no	861.83
E-HCAD-30	no	137.22
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• The findings strongly support the candidacy of C12orf57 as a gene that is mutated in a distinct syndromic form of colobomatous microphthalmia in humans. (PMID:23453665)
• Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. (PMID:24798461)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	C20H12orf57	ENSDARG00000030038
mus_musculus	Grcc10	ENSMUSG00000072772
drosophila_melanogaster	CG15387	FBGN0031403

Protein

Protein identifiers

Protein C10 — Q99622 (reviewed: Q99622)

All UniProt accessions (4): Q99622, F5GXW5, U3KQ07, U3KQ85

UniProt curated annotations — full annotation on UniProt →

Function. In brain, may be required for corpus callosum development.

Subcellular location. Cytoplasm.

Tissue specificity. Ubiquitously expressed, with higher expression in lung and fetal brain.

Disease relevance. Temtamy syndrome (TEMTYS) [MIM:218340] An autosomal recessive syndrome characterized by intellectual disability, variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus. The disease is caused by variants affecting the gene represented in this entry. A variant resulting in a GUG start codon may be able to produce some protein because of a consensus Kozak sequence, although less efficiently than the wild type. This would explain the phenotypic variability observed.

Similarity. Belongs to the UPF0456 family.

RefSeq proteins (5): NP_001288763, NP_001288765, NP_001288766, NP_001288767, NP_612434* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026317	Grcc10	Domain

Pfam: PF14974

UniProt features (4 total): initiator methionine 1, chain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99622-F1	81.41	0.47

Functional residue map

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

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 310 (showing top): AHRARNT_01, HORIUCHI_WTAP_TARGETS_DN, GOBP_COGNITION, GOBP_BEHAVIOR, GOBP_NEUROGENESIS, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, GOBP_VENTRICULAR_SYSTEM_DEVELOPMENT, GOBP_SKELETAL_MUSCLE_CONTRACTION, EFC_Q6, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_REGULATION_OF_STRIATED_MUSCLE_CONTRACTION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_REGULATION_OF_MUSCLE_CONTRACTION, GOBP_MUSCLE_CONTRACTION, KORKOLA_EMBRYONAL_CARCINOMA_UP

GO Biological Process (7): post-embryonic development (GO:0009791), regulation of skeletal muscle contraction (GO:0014819), corpus callosum morphogenesis (GO:0021540), third ventricle development (GO:0021678), psychomotor behavior (GO:0036343), camera-type eye morphogenesis (GO:0048593), cognition (GO:0050890)

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

GO Cellular Component (2): cytoplasm (GO:0005737), nuclear speck (GO:0016607)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
multicellular organism development	1
multicellular organismal process	1
skeletal muscle contraction	1
regulation of striated muscle contraction	1
central nervous system projection neuron axonogenesis	1
corpus callosum development	1
ventricular system development	1
anatomical structure development	1
motor behavior	1
camera-type eye development	1
eye morphogenesis	1
nervous system process	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

744 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C12orf57	HLA-B	P01889	809
C12orf57	PLAC8	Q9NZF1	769
C12orf57	HLA-A	P01891	764
C12orf57	POLR3H	Q9Y535	665
C12orf57	B2M	P01884	651
C12orf57	APLP1	P51693	628
C12orf57	TAPBP	O15533	595
C12orf57	HLA-G	P17693	594
C12orf57	HLA-C	P04222	579
C12orf57	TBL1XR1	Q9BZK7	478
C12orf57	CNOT11	Q9UKZ1	473
C12orf57	KIR3DL2	P43630	447
C12orf57	ERAP1	Q9NZ08	440
C12orf57	AGRN	O00468	431
C12orf57	PNMA2	Q9UL42	426

IntAct

48 interactions, top by confidence:

A	B	Type	Score
AKR7A3	AKR7A2	psi-mi:“MI:0914”(association)	0.890
VPS29	VPS26C	psi-mi:“MI:0914”(association)	0.760
PPP1CC	CCDC85C	psi-mi:“MI:0914”(association)	0.740
TAX1BP3	ARVCF	psi-mi:“MI:0914”(association)	0.690
TANC2	TAX1BP3	psi-mi:“MI:0914”(association)	0.690
PPP1CA	CCDC85C	psi-mi:“MI:0914”(association)	0.670
CNOT7	CAPZA2	psi-mi:“MI:0914”(association)	0.640
INSL3	C12orf57	psi-mi:“MI:0915”(physical association)	0.560
ANKK1	C12orf57	psi-mi:“MI:0915”(physical association)	0.560
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
EGLN3	FAM168B	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ARHGAP39	HMGN4	psi-mi:“MI:0914”(association)	0.350
SYNGAP1	POTEF	psi-mi:“MI:0914”(association)	0.350
SYNGAP1	POM121C	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
SYNGAP1	IGLON5	psi-mi:“MI:0914”(association)	0.350
AGAP3	AHCYL1	psi-mi:“MI:0914”(association)	0.350
C12orf57	TANC1	psi-mi:“MI:0914”(association)	0.350
CAPZB	ENAH	psi-mi:“MI:0914”(association)	0.350
VPS35	KIF2A	psi-mi:“MI:0914”(association)	0.350
YWHAB	BRAF	psi-mi:“MI:0914”(association)	0.350
RPL35A	SMCHD1	psi-mi:“MI:0914”(association)	0.350
CIMAP1A	HSPA8	psi-mi:“MI:0914”(association)	0.350
TMEM154	RPSA2	psi-mi:“MI:0914”(association)	0.350

BioGRID (51): C12orf57 (Affinity Capture-MS), C12orf57 (Co-fractionation), C12orf57 (Affinity Capture-MS), C12orf57 (Affinity Capture-RNA), C12orf57 (Affinity Capture-MS), C12orf57 (Affinity Capture-MS), C12orf57 (Affinity Capture-MS), ANKK1 (Two-hybrid), INSL3 (Two-hybrid), C12orf57 (Affinity Capture-MS), C12orf57 (Affinity Capture-MS), C12orf57 (Affinity Capture-RNA), C12orf57 (Affinity Capture-MS), C12orf57 (Affinity Capture-MS), C12orf57 (Affinity Capture-MS)

ESM2 similar proteins: A0A8W7Q4I4, A0RHW7, A9VUB0, B4QAF0, B7GGM5, B7H6T6, B7HMD4, B7IVI6, B7JK37, B9IW28, C1EPW3, C3LI15, C3P6V6, D4B5D3, F7IW82, O05544, O29607, O35127, P07096, P07580, P0CK49, P0CK50, P0CK62, P19400, P30659, P43215, P68830, P68831, P74102, P80734, Q2J1G7, Q32KM2, Q3V4Q3, Q4P9Y9, Q52329, Q57I62, Q635X7, Q6AX50, Q6HEL5, Q6P7L0

Diamond homologs: O35127, Q32KM2, Q6AX50, Q6P7L0, Q6TH01, Q99622

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	14
Likely pathogenic	9
Uncertain significance	119
Likely benign	117
Benign	18

Top pathogenic / likely-pathogenic (23)

Variant ID	HGVS	Classification
1244254	NM_138425.4(C12orf57):c.53_54del	Pathogenic
1933844	NM_138425.4(C12orf57):c.41dup (p.Gln15fs)	Pathogenic
1964294	NM_138425.4(C12orf57):c.19C>T (p.Gln7Ter)	Pathogenic
2023867	NM_138425.4(C12orf57):c.143del (p.Gly48fs)	Pathogenic
2161002	NM_138425.4(C12orf57):c.154C>T (p.Gln52Ter)	Pathogenic
242885	NM_138425.4(C12orf57):c.53-2A>G	Pathogenic
2442369	NM_138425.4(C12orf57):c.55dup (p.Val19fs)	Pathogenic
2627440	NM_138425.4(C12orf57):c.3G>A (p.Met1Ile)	Pathogenic
2859820	NM_138425.4(C12orf57):c.4del (p.Ala2fs)	Pathogenic
41943	NM_138425.4(C12orf57):c.152T>A (p.Leu51Gln)	Pathogenic
4808688	NM_138425.4(C12orf57):c.145A>T (p.Lys49Ter)	Pathogenic
583666	NC_000012.11:g.(?7053265)(7055105_?)del	Pathogenic
662818	NM_138425.4(C12orf57):c.161_162del (p.Val54fs)	Pathogenic
802816	NM_138425.4(C12orf57):c.182del (p.Ile61fs)	Pathogenic
1202612	NR_023317.1(RNU7-1):n.40_47del	Likely pathogenic
1202615	NR_023317.1(RNU7-1):n.35G>A	Likely pathogenic
1328141	NR_023317.1(RNU7-1):n.28C>G	Likely pathogenic
1328524	NR_023317.1(RNU7-1):n.30A>G	Likely pathogenic
1993030	NM_138425.4(C12orf57):c.52+1G>C	Likely pathogenic
3775418	NM_138425.4(C12orf57):c.286_287del (p.Ala96fs)	Likely pathogenic
534668	NM_138425.4(C12orf57):c.53-1G>A	Likely pathogenic
661984	NM_138425.4(C12orf57):c.52+1G>T	Likely pathogenic
806819	NM_138425.4(C12orf57):c.174del (p.Thr59fs)	Likely pathogenic

SpliceAI

306 predictions. Top by Δscore:

Variant	Effect	Δscore
12:6944172:GG:G	donor_gain	1.0000
12:6944173:GG:G	donor_gain	1.0000
12:6944401:C:CA	acceptor_gain	1.0000
12:6944411:T:A	acceptor_gain	1.0000
12:6944412:G:A	acceptor_gain	1.0000
12:6945768:CAGGT:C	acceptor_loss	1.0000
12:6944408:C:A	acceptor_gain	0.9900
12:6944420:T:A	acceptor_gain	0.9900
12:6944434:C:CA	acceptor_gain	0.9900
12:6945769:A:AG	acceptor_gain	0.9900
12:6945770:G:GG	acceptor_gain	0.9900
12:6945770:GGT:G	acceptor_gain	0.9900
12:6944170:AAGGG:A	donor_loss	0.9800
12:6944171:AGGG:A	donor_loss	0.9800
12:6944173:GGTGA:G	donor_loss	0.9800
12:6944174:GTG:G	donor_loss	0.9800
12:6944175:T:G	donor_loss	0.9800
12:6944176:GAGAA:G	donor_loss	0.9800
12:6944431:C:A	acceptor_gain	0.9800
12:6944439:ACCC:A	acceptor_gain	0.9800
12:6944439:ACCCG:A	acceptor_gain	0.9800
12:6945769:AG:A	acceptor_gain	0.9800
12:6945770:GG:G	acceptor_gain	0.9800
12:6944177:AG:A	donor_loss	0.9700
12:6944399:T:TA	acceptor_gain	0.9700
12:6944417:C:A	acceptor_gain	0.9700
12:6944439:A:AG	acceptor_gain	0.9700
12:6944440:C:G	acceptor_gain	0.9700
12:6944442:C:CA	acceptor_gain	0.9700
12:6944443:G:A	acceptor_gain	0.9700

AlphaMissense

816 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:6944551:C:A	A43D	1.000
12:6944575:T:C	L51P	1.000
12:6944596:C:A	A58D	1.000
12:6944611:A:C	Q63P	1.000
12:6944620:T:A	I66N	1.000
12:6944634:T:C	F71L	1.000
12:6944635:T:C	F71S	1.000
12:6944636:C:A	F71L	1.000
12:6944636:C:G	F71L	1.000
12:6944652:G:C	G77R	1.000
12:6945777:T:A	L79H	1.000
12:6945782:T:C	F81L	1.000
12:6945783:T:C	F81S	1.000
12:6945784:T:A	F81L	1.000
12:6945784:T:G	F81L	1.000
12:6945795:T:A	V85D	1.000
12:6944482:T:A	L20H	0.999
12:6944482:T:C	L20P	0.999
12:6944538:G:C	A39P	0.999
12:6944539:C:A	A39D	0.999
12:6944560:A:T	D46V	0.999
12:6944565:G:C	G48R	0.999
12:6944566:G:A	G48D	0.999
12:6944575:T:A	L51Q	0.999
12:6944587:T:A	L55Q	0.999
12:6944587:T:C	L55P	0.999
12:6944589:C:T	P56S	0.999
12:6944590:C:A	P56H	0.999
12:6944595:G:C	A58P	0.999
12:6944602:A:C	Q60P	0.999

dbSNP variants (sampled 300 via entrez): RS1000062722 (12:6942517 C>A,T), RS1001643880 (12:6943087 C>T), RS1001989739 (12:6942775 C>T), RS1002761008 (12:6945587 G>A,C), RS1003056522 (12:6943826 G>A,C,T), RS1004494517 (12:6946368 C>G,T), RS1006252093 (12:6943973 G>A,C,T), RS1007720531 (12:6944015 G>A,C,T), RS1008339302 (12:6945052 T>C,G), RS1008666597 (12:6943648 A>G,T), RS1008724844 (12:6944264 T>A,C), RS1009250398 (12:6942270 A>G), RS1010048747 (12:6942740 G>T), RS1010684626 (12:6944496 C>G,T), RS1010719965 (12:6943899 T>A,C,G)

Disease associations

OMIM: gene MIM:615140 | disease phenotypes: MIM:218340, MIM:619487, MIM:300345

GenCC curated gene-disease

Disease	Classification	Inheritance
temtamy syndrome	Definitive	Autosomal recessive

Mondo (7): temtamy syndrome (MONDO:0009033), Aicardi-Goutieres syndrome 9 (MONDO:0030362), intellectual disability (MONDO:0001071), hydronephrosis (MONDO:0005510), vesicoureteral reflux (MONDO:0006007), attention deficit-hyperactivity disorder (MONDO:0007743), microphthalmia, isolated, with coloboma (MONDO:0000170)

Orphanet (3): Temtamy syndrome (Orphanet:1777), Colobomatous microphthalmia (Orphanet:98938), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

37 total (30 of 37 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000276	Long face
HP:0000316	Hypertelorism
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000394	Lop ear
HP:0000444	Convex nasal ridge
HP:0000494	Downslanted palpebral fissures
HP:0000545	Myopia
HP:0000567	Chorioretinal coloboma
HP:0000568	Microphthalmia
HP:0000612	Iris coloboma
HP:0000678	Dental crowding
HP:0000685	Hypoplasia of teeth
HP:0000742	Self-mutilation
HP:0001083	Ectopia lentis
HP:0001156	Brachydactyly
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001256	Mild intellectual disability
HP:0001263	Global developmental delay
HP:0001274	Agenesis of corpus callosum
HP:0001276	Hypertonia
HP:0001659	Aortic regurgitation
HP:0001762	Talipes equinovarus
HP:0001763	Pes planus
HP:0001885	Short 2nd toe
HP:0002007	Frontal bossing
HP:0002119	Ventriculomegaly

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010002_206	Refractive error	3.000000e-62

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D006869	Hydronephrosis	C12.050.351.968.419.307; C12.200.777.419.307; C12.950.419.307
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D014718	Vesico-Ureteral Reflux	C12.050.351.968.829.920; C12.200.777.829.920; C12.950.829.920
C537463	Microphthalmia associated with colobomatous cyst (supp.)
C536959	Temtamy syndrome (supp.)

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
Valproic Acid	decreases expression, affects expression, affects cotreatment	7
Cyclosporine	increases expression	4
sodium arsenite	increases expression	2
Benzo(a)pyrene	increases methylation, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression, increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	decreases expression, increases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects cotreatment, decreases expression	1
arsenite	increases reaction, affects binding	1
benzo(e)pyrene	increases methylation	1
perfluorooctane sulfonic acid	increases expression	1
chloropicrin	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
nabiximols	increases expression	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Cadmium	increases expression, increases abundance	1
Cisplatin	increases expression	1
Diuron	decreases expression	1
Doxorubicin	increases expression	1
Estradiol	decreases expression	1
Formaldehyde	increases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Ivermectin	decreases expression	1
Methapyrilene	increases methylation	1
Methyl Methanesulfonate	increases expression	1

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_B2T7	Abcam HEK293T C12orf57 KO	Transformed cell line	Female
CVCL_VE76	PFIZi028-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT00152750	PHASE4	UNKNOWN	Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD
NCT00181571	PHASE4	COMPLETED	A Double-Blind Comparison of Concerta and Placebo in Adults With Attention Deficit Hyperactivity Disorder
NCT00181675	PHASE4	COMPLETED	A Double-Blind Comparison of Galantamine HBr and Placebo in Adults With Attention Deficit Hyperactivity Disorder
NCT00181714	PHASE4	COMPLETED	Prevention of Cigarette Smoking in Attention Deficit Hyperactivity Disorder (ADHD) Youth With Concerta
NCT00181948	PHASE4	COMPLETED	Strattera Treatment in Children With ADHD Who Have Poor Response to Stimulant Therapy
NCT00181987	PHASE4	COMPLETED	Concerta in the Treatment of ADHD in Youth and Adults With Bipolar Disorder
NCT00190736	PHASE4	COMPLETED	Efficacy and Safety of Once-Daily Atomoxetine Hydrochloride in Adults With ADHD Over an Extended Period of Time (6 Months)
NCT00190775	PHASE4	COMPLETED	A Randomized, Double-Blind Comparison of Placebo and Atomoxetine Hydrochloride Given Once a Day in Adults With Attention-Deficit/Hyperactivity Disorder (ADHD)
NCT00190879	PHASE4	COMPLETED	Placebo-Controlled Study of Atomoxetine Hydrochloride in the Treatment of Adults With ADHD and Comorbid Social Anxiety Disorder
NCT00190957	PHASE4	COMPLETED	Atomoxetine Treatment of Adults With ADHD and Comorbid Alcohol Abuse
NCT00191035	PHASE4	COMPLETED	Maintenance of Benefit With Atomoxetine Hydrochloride in Adolescents With ADHD
NCT00191048	PHASE4	COMPLETED	Treatment With Atomoxetine Hydrochloride in Children and Adolescents With ADHD
NCT00191633	PHASE4	COMPLETED	Study of Atomoxetine in Children With ADHD to Assess Symptomatic and Functional Outcomes
NCT00191906	PHASE4	COMPLETED	Comparison of Atomoxetine and Placebo in Children With Attention-Deficit/Hyperactivity Disorder (ADHD) and/or Reading Disorder (RD)
NCT00216918	PHASE4	COMPLETED	Neuropsychological Functioning in Children With Attention-Deficit/Hyperactivity Disorder.
NCT00221962	PHASE4	COMPLETED	Study of Aripiprazole (Abilify) in Children With ADHD (Attention Deficit Hyperactivity Disorder)
NCT00223561	PHASE4	COMPLETED	Methylphenidate and Driving Ability in Adult Patients With Attention-Deficit Hyperactivity Disorder
NCT00299234	PHASE4	TERMINATED	Atomoxetine for Children With Acquired Attentional Disorders Following Completion of Chemotherapy for ALL
NCT00302406	PHASE4	COMPLETED	Naturalistic Substitution of Concerta in Adult Subject With ADHD Receiving Immediate Release Methylphenidate
NCT00305370	PHASE4	COMPLETED	Aripiprazole Associated With Methylphenidate in Children and Adolescents With Bipolar Disorder and ADHD
NCT00381758	PHASE4	COMPLETED	The COMACS Study: A Comparison of Methylphenidates in an Analog Classroom Setting
NCT00406354	PHASE4	COMPLETED	Comparison of Atomoxetine Versus Placebo in Children and Adolescents With ADHD and Comorbid ODD in Germany
NCT00434213	PHASE4	COMPLETED	Characterization of Dermal Reactions in Pediatric Patients With ADHD Using DAYTRANA
NCT00468143	PHASE4	COMPLETED	A Within-Subject Cross-Over Comparison Between Immediate Release and Extended Release Adderall
NCT00471354	PHASE4	COMPLETED	A Study for Patients With Attention-Deficit/Hyperactivity Disorder Treated With Atomoxetine
NCT00483106	PHASE4	COMPLETED	Clinical and Pharmacogenetic Study of Attention Deficit With Hyperactivity Disorder (ADHD)
NCT00485849	PHASE4	COMPLETED	A Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behaviour Problems in Children With ASD
NCT00485875	PHASE4	COMPLETED	Safety and Efficacy of Switching From a Stimulant Medication to Atomoxetine in Children and Adolescents With ADHD
NCT00486122	PHASE4	COMPLETED	Evaluation of Continuous Symptom Treatment of ADHD
NCT00500071	PHASE4	COMPLETED	Dose-Optimization Study Evaluating the Efficacy, Safety and Tolerability of Vyvanse (Lisdexamfetamine Dimesylate) in Children Aged 6-12 Diagnosed With ADHD
NCT00506727	PHASE4	COMPLETED	Analog Classroom Study Comparison of ADDERALL XR With STRATTERA in Children Aged 6-12 With ADHD
NCT00510276	PHASE4	COMPLETED	Treatment of Attention-Deficit/Hyperactivity Disorder (ADHD) With Atomoxetine in Young Adults and Its Effects on Functional Outcomes
NCT00517504	PHASE4	COMPLETED	Methylphenidate Study in Young Children With Developmental Disorders
NCT00517647	PHASE4	COMPLETED	Atomoxetine Pilot Study in Preschool Children With ADHD
NCT00518232	PHASE4	COMPLETED	A Study to Determine Effective and Tolerable Titration Scheme for OROS-Methylphenidate in Children With Attention-deficit Hyperactivity Disorder
NCT00530257	PHASE4	COMPLETED	Study of the Effects of Osmotic-Release Oral System (OROS) Methylphenidate (Concerta) on Attention and Memory