Congenital hydrocephalus

disease

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Also known as HYC3

Summary

Congenital hydrocephalus (MONDO:0016349) is a disease (an umbrella term covering 8 Mondo subtypes) caused by LDB1 (GenCC Strong), with 11 cohort genes and 1 clinical trial.

At a glance

Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
Causal gene: LDB1 (GenCC Strong)
Umbrella term: 8 Mondo subtypes
Cohort genes: 11
ClinVar variants: 19
Phenotypes (HPO): 21
Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-5 / 10 000	46.5	Europe	Validated
Prevalence at birth	6-9 / 10 000	59	United States	Validated

Signs & symptoms

Clinical features (HPO)

21 HPO clinical features (Orphanet curated; top 21 by frequency):

HPO ID	Term	Frequency
HP:0000238	Hydrocephalus	Very frequent (80-99%)
HP:0000256	Macrocephaly	Frequent (30-79%)
HP:0000324	Facial asymmetry	Frequent (30-79%)
HP:0000358	Posteriorly rotated ears	Frequent (30-79%)
HP:0000414	Bulbous nose	Frequent (30-79%)
HP:0000486	Strabismus	Frequent (30-79%)
HP:0000494	Downslanted palpebral fissures	Frequent (30-79%)
HP:0000612	Iris coloboma	Frequent (30-79%)
HP:0001249	Intellectual disability	Frequent (30-79%)
HP:0001250	Seizure	Frequent (30-79%)
HP:0001270	Motor delay	Frequent (30-79%)
HP:0002007	Frontal bossing	Frequent (30-79%)
HP:0002119	Ventriculomegaly	Frequent (30-79%)
HP:0002472	Small cerebral cortex	Frequent (30-79%)
HP:0002536	Abnormal cortical gyration	Frequent (30-79%)
HP:0030048	Colpocephaly	Frequent (30-79%)
HP:0000407	Sensorineural hearing impairment	Very rare (<1-4%)
HP:0000648	Optic atrophy	Very rare (<1-4%)
HP:0001104	Macular hypoplasia	Very rare (<1-4%)
HP:0001339	Lissencephaly	Very rare (<1-4%)
HP:0001627	Abnormal heart morphology	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital hydrocephalus
Mondo ID	MONDO:0016349
OMIM	236600
Orphanet	2185
ICD-10-CM	Q03
ICD-11	1878746673
NCIT	C98876
SNOMED CT	47032000
UMLS	C0020256
MedGen	9336
GARD	0006682
MedDRA	10010506
Is cancer (heuristic)	no

Also known as: congenital hydrocephalus · HYC3

Data availability: 19 ClinVar variants · 1 GenCC gene-disease record · 7 cell lines.

Disease family

An umbrella term covering 8 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › hydrocephalus › congenital hydrocephalus

Subtypes (8): hydrocephalus, nonsyndromic, autosomal recessive 1, autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius, hydrocephalus, nonsyndromic, autosomal recessive 2, hydrocephalus-blue sclerae-nephropathy syndrome, congenital communicating hydrocephalus, congenital non-communicating hydrocephalus, hydrocephalus, congenital, 3, with brain anomalies

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

19 retrieved; paginated sample, class counts are floors:

9 likely pathogenic, 6 uncertain significance, 2 likely pathogenic; risk factor, 1 conflicting classifications of pathogenicity, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
684696	NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs)	LOC100507346	Pathogenic	criteria provided, single submitter
684697	NC_000005.9:g.154735732_155604899dup		Likely pathogenic	no assertion criteria provided
39862	NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs)	CCDC88C	Likely pathogenic	criteria provided, single submitter
684695	NM_000264.5(PTCH1):c.456_457del (p.Met152fs)	PTCH1	Likely pathogenic	no assertion criteria provided
684721	NC_000005.9:g.155599390_155755985dup	SGCD	Likely pathogenic	no assertion criteria provided
4536632	NM_003074.4(SMARCC1):c.1676T>A (p.Leu559Ter)	SMARCC1	Likely pathogenic	criteria provided, single submitter
684690	NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs)	SMARCC1	Likely pathogenic	no assertion criteria provided
684691	NM_003074.4(SMARCC1):c.1577A>C (p.His526Pro)	SMARCC1	Likely pathogenic; risk factor	no assertion criteria provided
684692	NM_003074.4(SMARCC1):c.2672del (p.Lys891fs)	SMARCC1	Likely pathogenic; risk factor	no assertion criteria provided
684693	NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter)	SMARCC1	Likely pathogenic	no assertion criteria provided
684694	NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs)	SMARCC1	Likely pathogenic	no assertion criteria provided
684689	NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His)	TRIM71	Likely pathogenic	no assertion criteria provided
667381	NM_001378778.1(MPDZ):c.4171C>T (p.Arg1391Ter)	MPDZ	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
684725	NC_000005.9:g.172068277_172342131dup	DUSP1	Uncertain significance	no assertion criteria provided
684723	NC_000005.9:g.170814836_171100000dup	FGF18	Uncertain significance	no assertion criteria provided
684698	NM_016338.5(IPO11):c.-6-1400_138+1704dup	IPO11	Uncertain significance	no assertion criteria provided
237456	NM_000264.5(PTCH1):c.1503+3A>G	PTCH1	Uncertain significance	criteria provided, single submitter
684722	NC_000005.9:g.170591818_170713790dup	RANBP17	Uncertain significance	no assertion criteria provided
684688	NM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln)	TRIM71	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 15 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
LDB1	Strong	Autosomal dominant	congenital hydrocephalus

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SGCD	Orphanet:154	Familial isolated dilated cardiomyopathy
SGCD	Orphanet:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
CCDC88C	Orphanet:269510	Congenital non-communicating hydrocephalus
CCDC88C	Orphanet:423275	Spinocerebellar ataxia type 40
TRIM71	Orphanet:269505	Congenital communicating hydrocephalus
MPDZ	Orphanet:269505	Congenital communicating hydrocephalus
PTCH1	Orphanet:220386	Semilobar holoprosencephaly
PTCH1	Orphanet:2353	Schilbach-Rott syndrome
PTCH1	Orphanet:280195	Septopreoptic holoprosencephaly
PTCH1	Orphanet:280200	Microform holoprosencephaly
PTCH1	Orphanet:377	Gorlin syndrome
PTCH1	Orphanet:77301	Monosomy 9q22.3 syndrome
PTCH1	Orphanet:93924	Lobar holoprosencephaly
PTCH1	Orphanet:93925	Alobar holoprosencephaly
PTCH1	Orphanet:93926	Midline interhemispheric variant of holoprosencephaly

Cohort genes → proteins

11 cohort genes, 11 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	11

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
LDB1	HGNC:6532	ENSG00000198728	Q86U70	LIM domain-binding protein 1	gencc
SGCD	HGNC:10807	ENSG00000170624	Q92629	Delta-sarcoglycan	clinvar
SMARCC1	HGNC:11104	ENSG00000173473	Q92922	SWI/SNF complex subunit SMARCC1	clinvar
RANBP17	HGNC:14428	ENSG00000204764	Q9H2T7	Ran-binding protein 17	clinvar
CCDC88C	HGNC:19967	ENSG00000015133	Q9P219	Protein Daple	clinvar
IPO11	HGNC:20628	ENSG00000086200	Q9UI26	Importin-11	clinvar
DUSP1	HGNC:3064	ENSG00000120129	P28562	Dual specificity protein phosphatase 1	clinvar
TRIM71	HGNC:32669	ENSG00000206557	Q2Q1W2	E3 ubiquitin-protein ligase TRIM71	clinvar
FGF18	HGNC:3674	ENSG00000156427	O76093	Fibroblast growth factor 18	clinvar
MPDZ	HGNC:7208	ENSG00000107186	O75970	Multiple PDZ domain protein	clinvar
PTCH1	HGNC:9585	ENSG00000185920	Q13635	Protein patched homolog 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
LDB1	LIM domain-binding protein 1	Binds to the LIM domain of a wide variety of LIM domain-containing transcription factors.
SGCD	Delta-sarcoglycan	Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
SMARCC1	SWI/SNF complex subunit SMARCC1	Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).
RANBP17	Ran-binding protein 17	May function as a nuclear transport receptor.
CCDC88C	Protein Daple	Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling.
IPO11	Importin-11	Functions in nuclear protein import as nuclear transport receptor.
DUSP1	Dual specificity protein phosphatase 1	Dual specificity phosphatase that dephosphorylates MAP kinase MAPK1/ERK2 on both ‘Thr-183’ and ‘Tyr-185’, regulating its activity during the meiotic cell cycle.
TRIM71	E3 ubiquitin-protein ligase TRIM71	E3 ubiquitin-protein ligase that cooperates with the microRNAs (miRNAs) machinery and promotes embryonic stem cells proliferation and maintenance.
FGF18	Fibroblast growth factor 18	Plays an important role in the regulation of cell proliferation, cell differentiation and cell migration.
MPDZ	Multiple PDZ domain protein	Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses.
PTCH1	Protein patched homolog 1	Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH).

Protein-family classification

Druggable: 1 · Difficult: 3 · Unknown: 7 · Druggable fraction: 0.09

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Phosphatase	1	7.6×	0.481
Scaffold/PPI	1	1.6×	0.481
Transcription factor	2	1.5×	0.481
Other/Unknown	7	1.1×	0.481

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
LDB1	Other/Unknown	no		LIM-bd/SEUSS, LID
SGCD	Other/Unknown	no		Sarcoglycan, Sarcoglycan_gamma/delta/zeta
SMARCC1	Transcription factor	no		Chromo/chromo_shadow_dom, SANT/Myb, SWIRM
RANBP17	Other/Unknown	no		Importin-beta_N, ARM-like, ARM-type_fold
CCDC88C	Other/Unknown	no		CH_dom, CH_dom_sf, HOOK_N
IPO11	Other/Unknown	no		Importin-beta_N, ARM-like, ARM-type_fold
DUSP1	Phosphatase	yes	3.1.3.16	Dual-sp_phosphatase_cat-dom, Tyr_Pase_dom, Rhodanese-like_dom
TRIM71	Transcription factor	no		Znf_B-box, NHL_repeat, Filamin/ABP280_rpt
FGF18	Other/Unknown	no		Fibroblast_GF_fam, IL1/FGF
MPDZ	Scaffold/PPI	no		PDZ, L27_dom, L27_2
PTCH1	Other/Unknown	no		SSD, TM_rcpt_patched, HMGCR/SNAP/NPC1-like_SSD

Expression context

Cohort genes with no expression data: 0.

11 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	11
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	3
ganglionic eminence	2
right uterine tube	2
heart right ventricle	2
ventricular zone	2
calcaneal tendon	2
vena cava	2
left ovary	1
left ventricle myocardium	1
skeletal muscle tissue of rectus abdominis	1
embryo	1
adrenal tissue	1
granulocyte	1
olfactory segment of nasal mucosa	1
colonic epithelium	1
primordial germ cell in gonad	1
nipple	1
urethra	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
LDB1	236	ubiquitous	marker	right uterine tube, ganglionic eminence, left ovary
SGCD	247	broad	marker	left ventricle myocardium, skeletal muscle tissue of rectus abdominis, heart right ventricle
SMARCC1	290	ubiquitous	marker	ventricular zone, embryo, ganglionic eminence
RANBP17	197	ubiquitous	marker	calcaneal tendon, male germ line stem cell (sensu Vertebrata) in testis, adrenal tissue
CCDC88C	220	ubiquitous	marker	right uterine tube, granulocyte, olfactory segment of nasal mucosa
IPO11	241	ubiquitous	marker	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, colonic epithelium
DUSP1	302	ubiquitous	marker	vena cava, nipple, urethra
TRIM71	69	broad	marker	secondary oocyte, oocyte, male germ line stem cell (sensu Vertebrata) in testis
FGF18	172	broad	marker	tendon of biceps brachii, heart right ventricle, vena cava
MPDZ	274	ubiquitous	marker	calcaneal tendon, corpus callosum, ventricular zone
PTCH1	275	ubiquitous	marker	tibia, dorsal root ganglion, trigeminal ganglion

Protein interactions among cohort

Intra-cohort edges: 2.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SMARCC1	3,999
FGF18	3,769
DUSP1	3,610
MPDZ	3,527
PTCH1	3,368
LDB1	1,845
IPO11	1,218
SGCD	1,102
TRIM71	1,101
CCDC88C	906

Intra-cohort edges

A	B	Sources
CCDC88C	MPDZ	string_interaction
IPO11	RANBP17	string_interaction

Structural data

PDB: 7 · AlphaFold-only: 4 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PTCH1	Q13635	16
LDB1	Q86U70	9
MPDZ	O75970	9
SMARCC1	Q92922	5
DUSP1	P28562	4
TRIM71	Q2Q1W2	2
FGF18	O76093	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
IPO11	Q9UI26	93.53
RANBP17	Q9H2T7	85.42
SGCD	Q92629	81.43
CCDC88C	Q9P219	65.69

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 74. Enrichment computed across 11 evidence-associated genes (8 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 8 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Negative regulation of TCF-dependent signaling by DVL-interacting proteins	1	285.5×	0.042	CCDC88C
FGFR3b ligand binding and activation	1	203.9×	0.042	FGF18
GLI proteins bind promoters of Hh responsive genes to promote transcription	1	203.9×	0.042	PTCH1
Ligand-receptor interactions	1	178.4×	0.042	PTCH1
Signaling by activated point mutants of FGFR3	1	119.0×	0.042	FGF18
FGFR3c ligand binding and activation	1	109.8×	0.042	FGF18
FGFR2c ligand binding and activation	1	109.8×	0.042	FGF18
Phospholipase C-mediated cascade; FGFR3	1	109.8×	0.042	FGF18
FGFRL1 modulation of FGFR1 signaling	1	109.8×	0.042	FGF18
FGFR4 ligand binding and activation	1	102.0×	0.042	FGF18
Phospholipase C-mediated cascade; FGFR4	1	95.2×	0.042	FGF18
Activated point mutants of FGFR2	1	84.0×	0.042	FGF18
Formation of the non-canonical BAF (ncBAF) complex	1	84.0×	0.042	SMARCC1
RAF-independent MAPK1/3 activation	1	79.3×	0.042	DUSP1
Activation of SMO	1	79.3×	0.042	PTCH1
Phospholipase C-mediated cascade; FGFR2	1	79.3×	0.042	FGF18
PI-3K cascade:FGFR3	1	79.3×	0.042	FGF18
Formation of the canonical BAF (cBAF) complex	1	79.3×	0.042	SMARCC1
Formation of the polybromo-BAF (pBAF) complex	1	79.3×	0.042	SMARCC1
SHC-mediated cascade:FGFR3	1	75.1×	0.042	FGF18
Formation of the embryonic stem cell BAF (esBAF) complex	1	75.1×	0.042	SMARCC1
PI-3K cascade:FGFR4	1	71.4×	0.042	FGF18
FRS-mediated FGFR3 signaling	1	68.0×	0.042	FGF18
SHC-mediated cascade:FGFR4	1	68.0×	0.042	FGF18
PI-3K cascade:FGFR2	1	62.1×	0.042	FGF18
FRS-mediated FGFR4 signaling	1	62.1×	0.042	FGF18
Signaling by FGFR3 in disease	1	62.1×	0.042	FGF18
SHC-mediated cascade:FGFR2	1	59.5×	0.042	FGF18
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)	1	57.1×	0.042	SMARCC1
FRS-mediated FGFR2 signaling	1	54.9×	0.042	FGF18

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 11 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
prostate gland development	2	255.3×	0.004	SMARCC1, PTCH1
response to chlorate	1	766.0×	0.022	PTCH1
neural plate axis specification	1	766.0×	0.022	PTCH1
coronary vasculature morphogenesis	1	766.0×	0.022	SGCD
cell proliferation involved in metanephros development	1	766.0×	0.022	PTCH1
respiratory basal cell differentiation	1	766.0×	0.022	CCDC88C
response to retinoic acid	2	69.6×	0.022	DUSP1, PTCH1
stem cell proliferation	2	56.7×	0.022	TRIM71, PTCH1
fibroblast growth factor receptor signaling pathway	2	51.9×	0.022	TRIM71, FGF18
response to estradiol	2	36.0×	0.022	DUSP1, PTCH1
animal organ morphogenesis	2	34.8×	0.022	SMARCC1, PTCH1
neural tube closure	2	34.0×	0.022	TRIM71, PTCH1
cell differentiation involved in kidney development	1	510.7×	0.023	PTCH1
peptidyl-serine dephosphorylation	1	510.7×	0.023	DUSP1
positive regulation of endothelial cell chemotaxis to fibroblast growth factor	1	510.7×	0.023	FGF18
transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	1	383.0×	0.023	LDB1
regulation of kinase activity	1	383.0×	0.023	LDB1
negative regulation of meiotic cell cycle	1	383.0×	0.023	DUSP1
regulation of cell migration	2	28.6×	0.023	FGF18, LDB1
protein import into nucleus	2	26.2×	0.023	RANBP17, IPO11
apical constriction	1	306.4×	0.024	CCDC88C
ribosomal protein import into nucleus	1	306.4×	0.024	IPO11
epidermal cell fate specification	1	306.4×	0.024	PTCH1
intramembranous ossification	1	255.3×	0.024	FGF18
neural tube patterning	1	255.3×	0.024	PTCH1
hindlimb morphogenesis	1	255.3×	0.024	PTCH1
positive regulation of hemoglobin biosynthetic process	1	255.3×	0.024	LDB1
negative regulation of monocyte chemotaxis	1	255.3×	0.024	DUSP1
negative regulation of cell division	1	218.9×	0.025	PTCH1
mammary gland duct morphogenesis	1	218.9×	0.025	PTCH1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 10

Druggability breadth: 4 of 11 evidence-associated genes (36%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SMARCC1	1	2
LDB1	0	0
SGCD	0	0
RANBP17	0	0
CCDC88C	0	0
IPO11	0	0
DUSP1	0	0
TRIM71	0	0
FGF18	0	0
MPDZ	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MOLIBRESIB	2	SMARCC1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
SMARCC1	8	Binding:8
DUSP1	8	Binding:8
PTCH1	4	Binding:4
IPO11	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
DUSP1	3.1.3.16	protein-serine/threonine phosphatase

Pharmacogenomics

Cohort genes with a PharmGKB record: 11; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

1 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
MOLIBRESIB	2	SMARCC1

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	1	SMARCC1
C	Druggable family + PDB, no drug	1	DUSP1
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	9	LDB1, SGCD, RANBP17, CCDC88C, IPO11, TRIM71, FGF18, MPDZ, PTCH1

Undrugged target profiles

10 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
LDB1	0	—
SGCD	0	—
RANBP17	0	—
CCDC88C	0	—
IPO11	1	—
DUSP1	8	—
TRIM71	0	—
FGF18	0	—
MPDZ	0	—
PTCH1	4	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06664372	Not specified	NOT_YET_RECRUITING	Insertion of Frontal Ventricular Catheter of VP Shunt in Congenital Hydrocephalus Guided by Trans Fontanelle Ultrasound

Cohort genes: LDB1, SGCD, SMARCC1, RANBP17, CCDC88C, IPO11, DUSP1, TRIM71, FGF18, MPDZ, PTCH1