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RECON progeroid syndrome

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Summary

RECON progeroid syndrome (MONDO:0957266) is a disease with 3 cohort genes.

At a glance

  • Cohort genes: 3
  • ClinVar variants: 58

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameRECON progeroid syndrome
Mondo IDMONDO:0957266
OMIM620370
UMLSC5830504
MedGen1841140
GARD0028079
Is cancer (heuristic)no

Data availability: 58 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › progeroid syndrome › RECON progeroid syndrome

Related subtypes (15): Hutchinson-Gilford progeria syndrome, Wiedemann-Rautenstrauch syndrome, Werner syndrome, progeroid facial appearance with hand anomalies, XFE progeroid syndrome, Fontaine progeroid syndrome, Nestor-Guillermo progeria syndrome, mandibular hypoplasia-deafness-progeroid syndrome, progeroid and marfanoid aspect-lipodystrophy syndrome, Cockayne syndrome, mandibuloacral dysplasia progeroid syndrome, achalasia-progeroid syndrome, Fischer-Zirnsak progeroid syndrome, Marbach-Rustad progeroid syndrome, Garg-Mishra progeroid syndrome

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

58 retrieved; paginated sample, class counts are floors:

32 uncertain significance, 15 conflicting classifications of pathogenicity, 5 benign, 3 benign/likely benign, 2 likely benign, 1 likely pathogenic

ClinVarVariant (HGVS)GeneClassificationReview
4845850NM_002907.4(RECQL):c.1241_1242del (p.Cys414fs)RECQLLikely pathogeniccriteria provided, single submitter
1005037NM_002907.4(RECQL):c.1805C>T (p.Ser602Leu)PYROXD1Conflicting classifications of pathogenicitycriteria provided, conflicting classifications
1132794NM_002907.4(RECQL):c.868-2A>GRECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
1419722NM_002907.4(RECQL):c.1077A>C (p.Lys359Asn)RECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
4280897NM_002907.4(RECQL):c.1177A>T (p.Lys393Ter)RECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
545993NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter)RECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
584806NM_002907.4(RECQL):c.1465A>G (p.Ile489Val)RECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
584818NM_002907.4(RECQL):c.468T>G (p.Ile156Met)RECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
584820NM_002907.4(RECQL):c.406G>A (p.Val136Ile)RECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
584824NM_002907.4(RECQL):c.120dup (p.Val41fs)RECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
584825NM_002907.4(RECQL):c.86C>T (p.Thr29Met)RECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
730377NM_002907.4(RECQL):c.2T>C (p.Met1Thr)RECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
830287NM_002907.4(RECQL):c.742G>A (p.Ala248Thr)RECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
834493NM_002907.4(RECQL):c.1360CGT[1] (p.Arg455del)RECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
965436NM_002907.4(RECQL):c.10G>A (p.Val4Ile)RECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
972033NM_002907.4(RECQL):c.267G>A (p.Leu89=)RECQLConflicting classifications of pathogenicitycriteria provided, conflicting classifications
1011683NM_002907.4(RECQL):c.1939G>A (p.Asp647Asn)PYROXD1Uncertain significancecriteria provided, multiple submitters, no conflicts
1218186NM_002907.4(RECQL):c.1741A>G (p.Asn581Asp)PYROXD1Uncertain significancecriteria provided, multiple submitters, no conflicts
1307575NM_002907.4(RECQL):c.1795A>G (p.Arg599Gly)PYROXD1Uncertain significancecriteria provided, multiple submitters, no conflicts
1379200NM_002907.4(RECQL):c.1865A>C (p.Asn622Thr)PYROXD1Uncertain significancecriteria provided, multiple submitters, no conflicts
1781774NM_002907.4(RECQL):c.1873AAG[1] (p.Lys626del)PYROXD1Uncertain significancecriteria provided, multiple submitters, no conflicts
3222954NM_002907.4(RECQL):c.1784A>G (p.Gln595Arg)PYROXD1Uncertain significancecriteria provided, multiple submitters, no conflicts
3574537NM_002907.4(RECQL):c.1926_1928del (p.Lys643del)PYROXD1Uncertain significancecriteria provided, multiple submitters, no conflicts
3892269NM_002907.4(RECQL):c.1798-6_1798-5delPYROXD1Uncertain significancecriteria provided, single submitter
1062979NM_002907.4(RECQL):c.867+3A>TRECQLUncertain significancecriteria provided, multiple submitters, no conflicts
1305958NM_002907.4(RECQL):c.548A>C (p.Glu183Ala)RECQLUncertain significancecriteria provided, multiple submitters, no conflicts
1326671NM_002907.4(RECQL):c.792T>A (p.Asp264Glu)RECQLUncertain significancecriteria provided, multiple submitters, no conflicts
1439831NM_002907.4(RECQL):c.394+1G>ARECQLUncertain significancecriteria provided, multiple submitters, no conflicts
1441518NM_002907.4(RECQL):c.321G>C (p.Lys107Asn)RECQLUncertain significancecriteria provided, multiple submitters, no conflicts
1489174NM_002907.4(RECQL):c.779A>C (p.His260Pro)RECQLUncertain significancecriteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 19 · Orphanet: 3 · 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.

GeneClassificationInheritanceDiseaseRecords
RECQLModerateAutosomal recessiveRECON progeroid syndrome4
RECQL4LimitedAutosomal recessiveRECON progeroid syndrome15

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
RECQL4Orphanet:1225Baller-Gerold syndrome
RECQL4Orphanet:221016Rothmund-Thomson syndrome type 2
RECQL4Orphanet:3021RAPADILINO syndrome

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence3

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
RECQLHGNC:9948ENSG00000004700P46063ATP-dependent DNA helicase Q1gencc,clinvar
RECQL4HGNC:9949ENSG00000160957O94761ATP-dependent DNA helicase Q4gencc
PYROXD1HGNC:26162ENSG00000121350Q8WU10tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
RECQLATP-dependent DNA helicase Q1DNA helicase that plays a role in DNA damage repair and genome stability.
RECQL4ATP-dependent DNA helicase Q4An ATP-dependent DNA helicase which unwinds dsDNA with a 3’-overhang in a 3’-5’ direction.
PYROXD1tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1Flavoprotein whose role is to protect RTCB, the catalytic subunit of the tRNA ligase complex (tRNA-LC) involved in tRNA splicing and unfolded protein response, from oxidative inactivation.

Protein-family classification

Druggable: 2 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.67

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.

FamilyGenesFoldFDR
Enzyme (other)28.0×0.039
Other/Unknown10.6×0.914

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
RECQLEnzyme (other)yes3.6.4.12Helicase_C-like, DNA_helicase_ATP-dep_RecQ, DEAD/DEAH_box_helicase_dom
RECQL4Enzyme (other)yes3.6.4.12Helicase_C-like, DNA_helicase_ATP-dep_RecQ, DEAD/DEAH_box_helicase_dom
PYROXD1Other/UnknownnoFAD/NAD-linked_Rdtase_dimer_sf, FAD/NAD-binding_dom, FAD/NAD-bd_sf

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)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)3
unknown0

Top tissues across cohort

TissueCohort genes
buccal mucosa cell2
calcaneal tendon1
tibia1
lower esophagus mucosa1
mucosa of transverse colon1
ventricular zone1
colonic mucosa1
mucosa of sigmoid colon1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
RECQL289ubiquitousmarkerbuccal mucosa cell, tibia, calcaneal tendon
RECQL4212ubiquitousyeslower esophagus mucosa, ventricular zone, mucosa of transverse colon
PYROXD1295ubiquitousmarkerbuccal mucosa cell, mucosa of sigmoid colon, colonic mucosa

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

SymbolInteractor count
RECQL46,330
PYROXD11,833
RECQL1,796

Intra-cohort edges

ABSources
PYROXD1RECQLstring_interaction

Structural data

PDB: 3 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
RECQLP460637
RECQL4O947612
PYROXD1Q8WU102

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 3 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 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
DNA replication2110.1×5e-04RECQL, RECQL4
double-strand break repair via homologous recombination2104.0×5e-04RECQL, RECQL4
tRNA exon ligation11872.4×0.001PYROXD1
DNA repair242.6×0.001RECQL, RECQL4
telomeric D-loop disassembly1624.1×0.003RECQL4
replication fork processing1140.4×0.009RECQL
telomere maintenance189.2×0.013RECQL4
cellular response to oxidative stress151.5×0.019PYROXD1

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 3 evidence-associated genes (33%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
RECQLLEVODOPA

Top cohort targets by molecule count

SymbolMoleculesMax phase
RECQL1154
RECQL400
PYROXD100

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
LEVODOPA4RECQL
CEFOTAXIME SODIUM4RECQL
CANDESARTAN CILEXETIL4RECQL
BEXAROTENE4RECQL
AMINOCAPROIC ACID4RECQL
FLUORESCEIN4RECQL
METHYSERGIDE4RECQL
IDARUBICIN4RECQL
OXYBUTYNIN CHLORIDE4RECQL
CISPLATIN4RECQL
AVOBENZONE4RECQL
AMPICILLIN SODIUM4RECQL
METHYSERGIDE MALEATE4RECQL
TRIMIPRAMINE MALEATE4RECQL
CEPHAPIRIN SODIUM4RECQL
ECONAZOLE NITRATE4RECQL
METHYLERGONOVINE4RECQL
ROSE BENGAL FREE ACID4RECQL
DEQUALINIUM CHLORIDE4RECQL
PROPANTHELINE BROMIDE4RECQL
VERAPAMIL HYDROCHLORIDE4RECQL
INAMRINONE4RECQL
ESTRADIOL4RECQL
ZOPICLONE4RECQL
MITOXANTRONE HYDROCHLORIDE4RECQL
NOREPINEPHRINE4RECQL
BITHIONOLATE SODIUM4RECQL
DOCUSATE4RECQL
OXYTETRACYCLINE4RECQL
RIBOFLAVIN4RECQL

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 2.

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

SymbolAssaysType breakdown
RECQL6Functional:4, Binding:2

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
RECQL3.6.4.12DNA helicase
RECQL43.6.4.12DNA helicase

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

30 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.

CompoundMax phaseCohort target (bioactivity)
LEVODOPA4RECQL
CEFOTAXIME SODIUM4RECQL
CANDESARTAN CILEXETIL4RECQL
BEXAROTENE4RECQL
AMINOCAPROIC ACID4RECQL
FLUORESCEIN4RECQL
METHYSERGIDE4RECQL
IDARUBICIN4RECQL
OXYBUTYNIN CHLORIDE4RECQL
CISPLATIN4RECQL
AVOBENZONE4RECQL
AMPICILLIN SODIUM4RECQL
METHYSERGIDE MALEATE4RECQL
TRIMIPRAMINE MALEATE4RECQL
CEPHAPIRIN SODIUM4RECQL
ECONAZOLE NITRATE4RECQL
METHYLERGONOVINE4RECQL
ROSE BENGAL FREE ACID4RECQL
DEQUALINIUM CHLORIDE4RECQL
PROPANTHELINE BROMIDE4RECQL
VERAPAMIL HYDROCHLORIDE4RECQL
INAMRINONE4RECQL
ESTRADIOL4RECQL
ZOPICLONE4RECQL
MITOXANTRONE HYDROCHLORIDE4RECQL
NOREPINEPHRINE4RECQL
BITHIONOLATE SODIUM4RECQL
DOCUSATE4RECQL
OXYTETRACYCLINE4RECQL
RIBOFLAVIN4RECQL

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1RECQL
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug1RECQL4
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug1PYROXD1

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
PYROXD10RECQL
RECQL40—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 66

This page pulls from 66 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentorphanetpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot