congenital disorder of glycosylation, type IIaa

Summary

congenital disorder of glycosylation, type IIaa (MONDO:0957540) 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	congenital disorder of glycosylation, type IIaa
Mondo ID	MONDO:0957540
OMIM	620454
UMLS	C5830651
MedGen	1841287
GARD	0026860
Is cancer (heuristic)	no

Data availability: 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › congenital disorder of glycosylation › congenital disorder of glycosylation type II › congenital disorder of glycosylation, type IIaa

Related subtypes (25): MGAT2-congenital disorder of glycosylation, leukocyte adhesion deficiency type II, SLC35A2-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation, B4GALT1-congenital disorder of glycosylation, COG7-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation, COG1-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation, SLC39A8-CDG, CCDC115-CDG, TMEM199-CDG, congenital disorder of glycosylation, type IIr, congenital disorder of glycosylation, type iit, congenital disorder of glycosylation, type 2v, congenital disorder of glycosylation, type IIw, congenital disorder of glycosylation, type IIq, congenital disorder of glycosylation, type IIy, congenital disorder of glycosylation, type IIz, congenital disorder of glycosylation, type IIbb, congenital disorder of glycosylation, type IIcc

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: 2 · 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
STX5	Moderate	Autosomal recessive	congenital disorder of glycosylation	2

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
STX5	HGNC:11440	ENSG00000162236	Q13190	Syntaxin-5	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
STX5	Syntaxin-5	Mediates endoplasmic reticulum to Golgi transport.

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)
STX5	Other/Unknown	no		T_SNARE_dom, Syntaxin/epimorphin_CS, SNARE

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
blood	1
bone marrow cell	1
granulocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
STX5	143	ubiquitous	marker	bone marrow cell, blood, granulocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
STX5	2,669

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
STX5	Q13190	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 21. 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
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane	1	475.8×	0.019	STX5
Cargo concentration in the ER	1	335.9×	0.019	STX5
Intra-Golgi traffic	1	259.6×	0.019	STX5
Protein localization	1	190.3×	0.019	STX5
COPII-mediated vesicle transport	1	163.1×	0.019	STX5
RHOG GTPase cycle	1	148.3×	0.019	STX5
RHOC GTPase cycle	1	146.4×	0.019	STX5
ER to Golgi Anterograde Transport	1	132.8×	0.019	STX5
COPI-mediated anterograde transport	1	109.8×	0.019	STX5
Intra-Golgi and retrograde Golgi-to-ER traffic	1	104.8×	0.019	STX5
Transport to the Golgi and subsequent modification	1	102.9×	0.019	STX5
RHOA GTPase cycle	1	74.6×	0.023	STX5
Asparagine N-linked glycosylation	1	60.1×	0.025	STX5
RHO GTPase cycle	1	60.1×	0.025	STX5
Membrane Trafficking	1	37.1×	0.035	STX5
Vesicle-mediated transport	1	34.8×	0.035	STX5
Signaling by Rho GTPases	1	34.2×	0.035	STX5
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1	33.5×	0.035	STX5
Post-translational protein modification	1	19.2×	0.058	STX5
Metabolism of proteins	1	12.4×	0.085	STX5
Signal Transduction	1	10.2×	0.098	STX5

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
Golgi disassembly	1	2808.7×	0.003	STX5
early endosome to Golgi transport	1	1296.3×	0.003	STX5
regulation of Golgi organization	1	1123.5×	0.003	STX5
obsolete vesicle docking	1	766.0×	0.003	STX5
vesicle fusion	1	601.9×	0.003	STX5
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	1	337.0×	0.005	STX5
retrograde transport, endosome to Golgi	1	205.5×	0.006	STX5
positive regulation of protein catabolic process	1	203.0×	0.006	STX5
endoplasmic reticulum to Golgi vesicle-mediated transport	1	135.9×	0.008	STX5
intracellular protein transport	1	64.8×	0.015	STX5

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
STX5	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	STX5

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)
STX5	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.