Trichotillomania

Summary

Trichotillomania (MONDO:0013189) is a disease with 1 cohort gene and 44 clinical trials. Top therapeutic interventions include dronabinol, memantine, and methylphenidate.

At a glance

• Cohort genes: 1
• ClinVar variants: 6
• Clinical trials: 44

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	trichotillomania
Mondo ID	MONDO:0013189
MeSH	D014256
OMIM	613229
DOID	DOID:0050587
ICD-10-CM	F63.3
ICD-11	1253999657
NCIT	C94336
SNOMED CT	17155009
UMLS	C0040953
MedGen	21654
Is cancer (heuristic)	no

Also known as: trichotillomania · trichotillomania, multifactorial · TTM

Data availability: 6 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › psychiatric disorder › impulse control disorder › trichotillomania

Related subtypes (6): kleptomania, intermittent explosive disorder, pyromania, Kluver-Bucy syndrome, pathological gambling, primary polydipsia

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

6 retrieved; paginated sample, class counts are floors:

5 uncertain significance, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1578	NM_001281503.2(SLITRK1):c.1264del (p.Leu422fs)	SLITRK1	Pathogenic	no assertion criteria provided
1030106	NM_001281503.2(SLITRK1):c.707T>C (p.Ile236Thr)	SLITRK1	Uncertain significance	criteria provided, single submitter
3576348	NM_001281503.2(SLITRK1):c.1040G>A (p.Cys347Tyr)	SLITRK1	Uncertain significance	criteria provided, single submitter
3892509	NM_001281503.2(SLITRK1):c.1594G>C (p.Glu532Gln)	SLITRK1	Uncertain significance	criteria provided, single submitter
3892510	NM_001281503.2(SLITRK1):c.2037C>A (p.Asn679Lys)	SLITRK1	Uncertain significance	criteria provided, single submitter
3892511	NM_001281503.2(SLITRK1):c.516C>A (p.Asn172Lys)	SLITRK1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 0 · 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
SLITRK1	Limited	Unknown	trichotillomania	4

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SLITRK1	HGNC:20297	ENSG00000178235	Q96PX8	SLIT and NTRK-like protein 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SLITRK1	SLIT and NTRK-like protein 1	It is involved in synaptogenesis and promotes excitatory synapse differentiation.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SLITRK1	Other/Unknown	no		Cys-rich_flank_reg_C, Leu-rich_rpt, Leu-rich_rpt_typical-subtyp

Expression context

Cohort genes with no expression data: 0.

1 cohort gene 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)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
Brodmann (1909) area 23	1
Brodmann (1909) area 46	1
prefrontal cortex	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SLITRK1	86	broad	marker	Brodmann (1909) area 46, prefrontal cortex, Brodmann (1909) area 23

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SLITRK1	2,283

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SLITRK1	Q96PX8	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Receptor-type tyrosine-protein phosphatases	1	571.0×	0.005	SLITRK1
Protein-protein interactions at synapses	1	265.6×	0.006	SLITRK1
Neuronal System	1	44.3×	0.023	SLITRK1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
homeostatic process	1	1685.2×	0.004	SLITRK1
norepinephrine metabolic process	1	1532.0×	0.004	SLITRK1
vocalization behavior	1	887.0×	0.004	SLITRK1
positive regulation of axonogenesis	1	581.1×	0.004	SLITRK1
synaptic membrane adhesion	1	581.1×	0.004	SLITRK1
regulation of presynapse assembly	1	543.6×	0.004	SLITRK1
neuron projection extension	1	526.6×	0.004	SLITRK1
adult behavior	1	468.1×	0.004	SLITRK1
positive regulation of synapse assembly	1	244.2×	0.006	SLITRK1
synapse assembly	1	230.8×	0.006	SLITRK1
axonogenesis	1	160.5×	0.008	SLITRK1
multicellular organism growth	1	137.0×	0.009	SLITRK1
endocytosis	1	95.2×	0.011	SLITRK1
gene expression	1	79.9×	0.013	SLITRK1

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Acetylcysteine, Aripiprazole, Cannabidiol, Dronabinol, Inositol, Memantine, Milk Thistle, Naltrexone, Valbenazine.

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SLITRK1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

0 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.

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	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	SLITRK1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
SLITRK1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 44.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	22
PHASE2	16
PHASE4	2
PHASE2/PHASE3	2
PHASE1/PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00182507	PHASE4	COMPLETED	Olanzapine in the Treatment of Hair Pulling (Trichotillomania)
NCT00552266	PHASE4	UNKNOWN	Methylphenidate in ADHD With Trichotillomania
NCT05796752	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Behavioral Treatment and Memantine in Body Focused Repetitive Behaviors
NCT03530800	PHASE2/PHASE3	COMPLETED	Dronabinol in Trichotillomania and Other Body Focused Repetitive Behaviors
NCT05207085	PHASE2	RECRUITING	Efficacy of Valbenazine for the Treatment of Trichotillomania in Adults
NCT05545891	PHASE2	NOT_YET_RECRUITING	Aripiprazole in Body Focused Repetitive Behaviors
NCT07282769	PHASE2	NOT_YET_RECRUITING	Semaglutide (Wegovy) Treatment for Trichotillomania
NCT00354770	PHASE2	COMPLETED	N-Acetyl Cysteine in Trichotillomania
NCT00740909	PHASE1/PHASE2	COMPLETED	Cognitive Behavioral Therapy for Trichotillomania
NCT00775229	PHASE2	COMPLETED	Naltrexone in the Treatment of Trichotillomania
NCT00872742	PHASE2	COMPLETED	Testing a New Therapy for Trichotillomania
NCT00993265	PHASE2	COMPLETED	N-Acetylcysteine for Pediatric Trichotillomania
NCT01093976	PHASE2	COMPLETED	Marinol in Trichotillomania or Obsessive Compulsive Disorder
NCT01118637	PHASE2	COMPLETED	Stepped Care in the Treatment of Trichotillomania
NCT01654523	PHASE2	COMPLETED	Awareness Enhancement and Monitoring Device for Treatment of Trichotillomania
NCT01875445	PHASE2	COMPLETED	Inositol in Trichotillomania
NCT01968343	PHASE2	COMPLETED	Trichotillomania: Group Cognitive-Behavioral Therapy
NCT02473913	PHASE2	COMPLETED	Milk Thistle in Trichotillomania in Children and Adults
NCT03797521	PHASE2	COMPLETED	A Study in Patients With Trichotillomania
NCT04792645	PHASE2	COMPLETED	Memantine in Body Focused Repetitive Behaviors
NCT04978428	PHASE2	COMPLETED	Epidiolex in Obsessive Compulsive Disorder and Related Disorders
NCT04455152	PHASE1	COMPLETED	Self-control and Body-focused Repetitive Behaviors
NCT01075672	Not specified	ACTIVE_NOT_RECRUITING	Outcomes of Cognitive Behavioral Therapy (CBT) Interventions Provided by Unlicensed Professionals
NCT02747771	Not specified	RECRUITING	Cognitive Behavioral Group Therapy for Trichotillomania (Hair Pulling Disorder)
NCT05118633	Not specified	NOT_YET_RECRUITING	Technology Assisted Treatment for Trichotillomania
NCT07224126	Not specified	RECRUITING	Technology Assisted Treatment of Trichotillomania: Open Trial
NCT00004550	Not specified	COMPLETED	Evaluation and Follow-up of Individuals With Obsessive-Compulsive Disorder and Related Conditions
NCT00043563	Not specified	COMPLETED	Cognitive Behavioral Treatment of Pediatric Trichotillomania
NCT00917098	Not specified	COMPLETED	Examining Behavior Therapy for Trichotillomania in Children and Adolescents
NCT00947154	Not specified	COMPLETED	Trial of Aripiprazole in Trichotillomania
NCT01445444	Not specified	COMPLETED	Habit Reversal Training for Children and Adolescents With Trichotillomania
NCT01638975	Not specified	COMPLETED	Response Inhibition Training for Individuals With Trichotillomania
NCT01878110	Not specified	COMPLETED	Efficacy of COMB (Comprehensive Behavioral) Model of Treatment of Trichotillomania
NCT01984333	Not specified	COMPLETED	Online Response Inhibition Training for Trichotillomania
NCT02044237	Not specified	COMPLETED	Online Treatment of Trichotillomania
NCT02059980	Not specified	COMPLETED	Developing Effective Response Inhibition Training for Symptom Relief in OCD and Trichotillomania
NCT02771886	Not specified	COMPLETED	Evaluation of a Brief Surf the Urge Intervention
NCT02794753	Not specified	UNKNOWN	Cognitive Training in Patients With Trichotillomania (Hair-pulling Disorder)
NCT03486041	Not specified	COMPLETED	Comprehensive Behavioral (ComB) Model of Treatment for Trichotillomania
NCT03545152	Not specified	COMPLETED	Non-pharmacological Interventions on Cognitive Functions in Older People With Mild Cognitive Impairment

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DRONABINOL	4	2
MEMANTINE	4	1
METHYLPHENIDATE	4	1
OLANZAPINE	4	1
VALBENAZINE	4	1
INOSITOL	3	1
MILK THISTLE	3	1