Galloway-Mowat syndrome 10

Summary

Galloway-Mowat syndrome 10 (MONDO:0030476) is a disease caused by YRDC (GenCC Strong), with 2 cohort genes.

At a glance

• Causal gene: YRDC (GenCC Strong)
• Cohort genes: 2
• ClinVar variants: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Galloway-Mowat syndrome 10
Mondo ID	MONDO:0030476
OMIM	619609
UMLS	C5562020
MedGen	1794230
GARD	0025575
Is cancer (heuristic)	no

Also known as: GAMOS10

Data availability: 4 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › Galloway-Mowat syndrome › Galloway-Mowat syndrome 10

Related subtypes (9): Galloway-Mowat syndrome 9, Galloway-Mowat syndrome 6, Galloway-Mowat syndrome 7, Galloway-Mowat syndrome 8, Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 2, X-linked, Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 5

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

4 retrieved; paginated sample, class counts are floors:

4 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1321212	NM_024640.4(YRDC):c.251C>T (p.Ala84Val)	C1orf122	Pathogenic	no assertion criteria provided
1321213	NM_024640.4(YRDC):c.721_724del (p.Val241fs)	YRDC	Pathogenic	no assertion criteria provided
1321214	NM_024640.4(YRDC):c.791TCC[1] (p.Leu265del)	YRDC	Pathogenic	no assertion criteria provided
1321215	NM_024640.4(YRDC):c.662T>C (p.Ile221Thr)	YRDC	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 1 · 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
YRDC	Strong	Autosomal recessive	Galloway-Mowat syndrome 10	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
YRDC	Orphanet:2065	Galloway-Mowat syndrome

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
YRDC	HGNC:28905	ENSG00000196449	Q86U90	Threonylcarbamoyl-AMP synthase	gencc,clinvar
C1orf122	HGNC:24789	ENSG00000197982	Q6ZSJ8	Uncharacterized protein C1orf122	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
YRDC	Threonylcarbamoyl-AMP synthase	Cytoplasmic and mitochondrial threonylcarbamoyl-AMP synthase required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 2 · 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	2	1.8×	0.312

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
YRDC	Other/Unknown	no		Sua5-like_dom, DHBP_synth_RibB-like_a/b_dom, TC-AMP_synthase_SUA5
C1orf122	Other/Unknown	no		DUF4726

Expression context

Cohort genes with no expression data: 0.

2 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
gingival epithelium	1
islet of Langerhans	1
primordial germ cell in gonad	1
C1 segment of cervical spinal cord	1
pancreatic ductal cell	1
spinal cord	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
YRDC	255	ubiquitous	marker	gingival epithelium, primordial germ cell in gonad, islet of Langerhans
C1orf122	249	ubiquitous	marker	pancreatic ductal cell, C1 segment of cervical spinal cord, spinal cord

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
YRDC	1,584
C1orf122	333

Structural data

PDB: 0 · AlphaFold-only: 2 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
YRDC	Q86U90	83.30
C1orf122	Q6ZSJ8	69.27

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. Enrichment computed across 2 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
tRNA modification in the mitochondrion	1	1038.2×	1e-03	YRDC

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
negative regulation of transport	1	5617.3×	3e-04	YRDC
tRNA threonylcarbamoyladenosine modification	1	3370.4×	3e-04	YRDC
regulation of translational fidelity	1	3370.4×	3e-04	YRDC
mitochondrial tRNA modification	1	3370.4×	3e-04	YRDC

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 0 of 2 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
YRDC	0	0
C1orf122	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; 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	2	YRDC, C1orf122

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
YRDC	0	—
C1orf122	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.