symptomatic form of fragile X syndrome in female carrier

Summary

symptomatic form of fragile X syndrome in female carrier (MONDO:0018670) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	symptomatic form of fragile X syndrome in female carrier
Mondo ID	MONDO:0018670
Orphanet	449291
UMLS	C5681104
MedGen	1814467
GARD	0017783
Is cancer (heuristic)	no

Data availability: 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › fragile X syndrome › symptomatic form of fragile X syndrome in female carrier

Related subtypes (3): fragile X syndrome type 1, fragile X syndrome type 2, fragile X syndrome type 3

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

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 14 · Orphanet: 4 · 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
FMR1	Definitive	X-linked	fragile X syndrome	14

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FMR1	Orphanet:261483	Xq27.3q28 duplication syndrome
FMR1	Orphanet:642691	Fragile X-associated primary ovarian insufficiency
FMR1	Orphanet:908	Fragile X syndrome
FMR1	Orphanet:93256	Fragile X-associated tremor/ataxia syndrome

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
FMR1	HGNC:3775	ENSG00000102081	Q06787	Fragile X messenger ribonucleoprotein 1	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FMR1	Fragile X messenger ribonucleoprotein 1	Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsyn…

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)
FMR1	Other/Unknown	no		KH_dom, KH_dom_type_1, Agenet-like_dom

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
caput epididymis	1
corpus epididymis	1
sural nerve	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FMR1	296	ubiquitous	marker	caput epididymis, corpus epididymis, sural nerve

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FMR1	4,726

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
FMR1	Q06787	12

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
positive regulation of intracellular transport of viral material	1	16852.0×	0.001	FMR1
negative regulation of miRNA-mediated gene silencing	1	5617.3×	0.001	FMR1
regulation of translation at presynapse, modulating synaptic transmission	1	5617.3×	0.001	FMR1
negative regulation of long-term synaptic depression	1	5617.3×	0.001	FMR1
regulation of neuronal action potential	1	4213.0×	0.001	FMR1
negative regulation of voltage-gated calcium channel activity	1	3370.4×	0.001	FMR1
negative regulation of synaptic vesicle exocytosis	1	3370.4×	0.001	FMR1
host-mediated perturbation of viral RNA genome replication	1	2808.7×	0.002	FMR1
positive regulation of miRNA-mediated gene silencing	1	2407.4×	0.002	FMR1
positive regulation of long-term neuronal synaptic plasticity	1	1872.4×	0.002	FMR1
regulation of dendritic spine development	1	1685.2×	0.002	FMR1
negative regulation of cytoplasmic translation	1	1685.2×	0.002	FMR1
membraneless organelle assembly	1	1123.5×	0.002	FMR1
regulation of filopodium assembly	1	1053.2×	0.002	FMR1
positive regulation of proteasomal protein catabolic process	1	991.3×	0.002	FMR1
glutamate receptor signaling pathway	1	936.2×	0.002	FMR1
negative regulation of translational initiation	1	887.0×	0.002	FMR1
regulation of neurotransmitter secretion	1	766.0×	0.002	FMR1
positive regulation of dendritic spine development	1	766.0×	0.002	FMR1
animal organ development	1	732.7×	0.002	FMR1
positive regulation of receptor internalization	1	702.2×	0.002	FMR1
regulatory ncRNA-mediated gene silencing	1	674.1×	0.002	FMR1
stress granule assembly	1	601.9×	0.003	FMR1
positive regulation of filopodium assembly	1	561.7×	0.003	FMR1
regulation of mRNA stability	1	421.3×	0.003	FMR1
mRNA export from nucleus	1	295.6×	0.005	FMR1
mRNA transport	1	263.3×	0.005	FMR1
regulation of alternative mRNA splicing, via spliceosome	1	244.2×	0.005	FMR1
positive regulation of translation	1	227.7×	0.005	FMR1
cellular response to virus	1	200.6×	0.006	FMR1

Therapeutics

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
FMR1	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	FMR1

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)
FMR1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.