Precocious puberty in female

Summary

Precocious puberty in female (MONDO:0018561) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	precocious puberty in female
Mondo ID	MONDO:0018561
Orphanet	435561
UMLS	C0271616
MedGen	543449
Anatomy (UBERON)	UBERON:0003100
Is cancer (heuristic)	no

Also known as: female organism precocious puberty · precocious puberty of female organism

Data availability: 1 ClinVar variant · 1 HPO phenotype.

Disease family

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › gonadal disorder › precocious puberty › precocious puberty in female

Related subtypes (2): peripheral precocious puberty, central precocious puberty

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

1 retrieved; paginated sample, class counts are floors:

1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2430281	NM_004663.5(RAB11A):c.335A>G (p.His112Arg)	RAB11A	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RAB11A	Orphanet:178469	Autosomal dominant non-syndromic intellectual disability

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
RAB11A	HGNC:9760	ENSG00000103769	P62491	Ras-related protein Rab-11A	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RAB11A	Ras-related protein Rab-11A	The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.

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)
RAB11A	Other/Unknown	no		Small_GTPase, Small_GTP-bd, P-loop_NTPase

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
esophagus squamous epithelium	1
gingiva	1
gingival epithelium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RAB11A	304	ubiquitous	marker	esophagus squamous epithelium, gingiva, gingival epithelium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RAB11A	1,377

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
RAB11A	P62491	30

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 6. 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
VxPx cargo-targeting to cilium	1	519.1×	0.008	RAB11A
Vasopressin regulates renal water homeostasis via Aquaporins	1	265.6×	0.008	RAB11A
TBC/RABGAPs	1	259.6×	0.008	RAB11A
RAB geranylgeranylation	1	173.0×	0.008	RAB11A
Translocation of SLC2A4 (GLUT4) to the plasma membrane	1	154.3×	0.008	RAB11A
Anchoring of the basal body to the plasma membrane	1	113.1×	0.009	RAB11A

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
synaptic vesicle endosomal processing	1	16852.0×	0.002	RAB11A
obsolete regulation of early endosome to recycling endosome transport	1	5617.3×	0.002	RAB11A
regulation of protein localization to centrosome	1	5617.3×	0.002	RAB11A
exosomal secretion	1	4213.0×	0.002	RAB11A
obsolete early endosome to recycling endosome transport	1	3370.4×	0.002	RAB11A
establishment of vesicle localization	1	2407.4×	0.002	RAB11A
amyloid-beta clearance by transcytosis	1	2407.4×	0.002	RAB11A
regulation of protein transport	1	2106.5×	0.002	RAB11A
positive regulation of mitotic cytokinetic process	1	2106.5×	0.002	RAB11A
establishment of protein localization to organelle	1	1872.4×	0.002	RAB11A
establishment of protein localization to membrane	1	1872.4×	0.002	RAB11A
neurotransmitter receptor transport, endosome to postsynaptic membrane	1	1872.4×	0.002	RAB11A
regulation of endocytic recycling	1	1685.2×	0.002	RAB11A
plasma membrane to endosome transport	1	1532.0×	0.002	RAB11A
vesicle-mediated transport in synapse	1	1532.0×	0.002	RAB11A
astral microtubule organization	1	1296.3×	0.002	RAB11A
protein transmembrane transport	1	1296.3×	0.002	RAB11A
regulation of vesicle-mediated transport	1	1123.5×	0.002	RAB11A
regulation of long-term neuronal synaptic plasticity	1	991.3×	0.002	RAB11A
melanosome transport	1	766.0×	0.002	RAB11A
positive regulation of G2/M transition of mitotic cell cycle	1	601.9×	0.003	RAB11A
regulation of cilium assembly	1	601.9×	0.003	RAB11A
multivesicular body assembly	1	526.6×	0.003	RAB11A
Golgi to plasma membrane protein transport	1	526.6×	0.003	RAB11A
protein localization to cell surface	1	495.6×	0.003	RAB11A
regulation of cytokinesis	1	421.3×	0.003	RAB11A
positive regulation of epithelial cell migration	1	411.0×	0.003	RAB11A
protein localization to cilium	1	401.2×	0.003	RAB11A
mitotic metaphase chromosome alignment	1	383.0×	0.003	RAB11A
mitotic spindle assembly	1	343.9×	0.003	RAB11A

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
RAB11A	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
RAB11A	2	Binding:2

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	RAB11A

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)
RAB11A	2	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.