◎ Sugi Atlas

Atlas / Disease / Fetal erythroblastosis

Fetal erythroblastosis

disease
On this page

Also known as erythroblastosis fetalisHDFNhemolytic disease of the fetus or newbornhemolytic disease of the foetus or newbornhemolytic disease of the newbornisoimmune hemolytic disease of the newborn

Summary

Fetal erythroblastosis (MONDO:0006760) is a disease with 1 cohort gene and 2 clinical trials.

At a glance

  • Cohort genes: 1
  • ClinVar variants: 1
  • Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namefetal erythroblastosis
Mondo IDMONDO:0006760
EFOEFO:1000937
MeSHD004899
DOIDDOID:1098
NCITC101304
SNOMED CT387705004
UMLSC0014761
MedGen4530
GARD0024468
Is cancer (heuristic)no

Also known as: erythroblastosis fetalis · HDFN · hemolytic disease of the fetus or newborn · hemolytic disease of the foetus or newborn · hemolytic disease of the newborn · isoimmune hemolytic disease of the newborn

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › anemia › microcytic anemia › fetal erythroblastosis

Related subtypes (2): hypochromic microcytic anemia, IRIDA 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

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVarVariant (HGVS)GeneClassificationReview
429191NM_001372327.1(SLC29A1):c.1159A>C (p.Thr387Pro)SLC29A1Pathogenicno assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
SLC29A1HGNC:11003ENSG00000112759Q99808Equilibrative nucleoside transporter 1clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
SLC29A1Equilibrative nucleoside transporter 1Uniporter involved in the facilitative transport of nucleosides and nucleobases, and contributes to maintaining their cellular homeostasis.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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.

FamilyGenesFoldFDR
Transporter177.8×0.013

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
SLC29A1TransporteryesEqnu_transpt, ENT1/ENT2, MFS_trans_sf

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)

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

Top tissues across cohort

TissueCohort genes
apex of heart1
mucosa of stomach1
right coronary artery1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
SLC29A1235ubiquitousmarkermucosa of stomach, right coronary artery, apex of heart

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
SLC29A11,592

Structural data

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

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
SLC29A1Q998083

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 7. 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.

PathwayCohort genesFoldFDRSample cohort genes
Ribavirin ADME11038.2×0.004SLC29A1
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane1951.7×0.004SLC29A1
Azathioprine ADME1496.5×0.005SLC29A1
Transport of vitamins, nucleosides, and related molecules1271.9×0.006SLC29A1
Drug ADME1228.4×0.006SLC29A1
SLC-mediated transmembrane transport159.2×0.020SLC29A1
Transport of small molecules125.1×0.040SLC29A1

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 termCohort genesFoldFDRSample cohort genes
thymine transport18426.0×6e-04SLC29A1
pyrimidine nucleobase transmembrane transport18426.0×6e-04SLC29A1
adenine transport15617.3×6e-04SLC29A1
nucleoside transport15617.3×6e-04SLC29A1
guanine transmembrane transport15617.3×6e-04SLC29A1
uracil transmembrane transport15617.3×6e-04SLC29A1
purine nucleoside transmembrane transport14213.0×6e-04SLC29A1
cytidine transport14213.0×6e-04SLC29A1
inosine transport14213.0×6e-04SLC29A1
hypoxanthine transport14213.0×6e-04SLC29A1
ADP catabolic process14213.0×6e-04SLC29A1
nucleobase transport13370.4×6e-04SLC29A1
adenosine transport13370.4×6e-04SLC29A1
pyrimidine-containing compound transmembrane transport13370.4×6e-04SLC29A1
uridine transmembrane transport12808.7×6e-04SLC29A1
nucleoside transmembrane transport12808.7×6e-04SLC29A1
purine nucleobase transmembrane transport12808.7×6e-04SLC29A1
AMP catabolic process12407.4×7e-04SLC29A1
neurotransmitter uptake11404.3×0.001SLC29A1
xenobiotic transmembrane transport1936.2×0.002SLC29A1
response to antibiotic1702.2×0.002SLC29A1
nucleobase-containing compound metabolic process1526.6×0.003SLC29A1
excitatory postsynaptic potential1443.5×0.003SLC29A1
neurotransmitter transport1421.3×0.003SLC29A1
lactation1421.3×0.003SLC29A1
cellular response to glucose stimulus1267.5×0.004SLC29A1
transport across blood-brain barrier1179.3×0.006SLC29A1
xenobiotic metabolic process1149.1×0.007SLC29A1
cellular response to hypoxia1121.2×0.008SLC29A1

Therapeutics

Drugs indicated for this disease

0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
NipocalimabPhase 3 (in late-stage trials)

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) 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
SLC29A1RIMONABANT

Top cohort targets by molecule count

SymbolMoleculesMax phase
SLC29A1654

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
RIMONABANT4SLC29A1
CELECOXIB4SLC29A1
BENZTROPINE4SLC29A1
PYRVINIUM4SLC29A1
INDOCYANINE GREEN ACID FORM4SLC29A1
BALSALAZIDE4SLC29A1
FIDAXOMICIN4SLC29A1
ROTIGOTINE4SLC29A1
NITAZOXANIDE4SLC29A1
PIMOZIDE4SLC29A1
NAFTOPIDIL4SLC29A1
NIMODIPINE4SLC29A1
GLAFENINE4SLC29A1
FELODIPINE4SLC29A1
OXYPHENCYCLIMINE4SLC29A1
KETOCONAZOLE4SLC29A1
RIFAXIMIN4SLC29A1
DAUNORUBICIN4SLC29A1
NERATINIB4SLC29A1
CANNABIDIOL4SLC29A1
DOMPERIDONE4SLC29A1
APIXABAN4SLC29A1
IDEBENONE4SLC29A1
NILOTINIB4SLC29A1
TACROLIMUS ANHYDROUS4SLC29A1
BOSUTINIB4SLC29A1
ENCORAFENIB4SLC29A1
SELINEXOR4SLC29A1
RIFAMPIN4SLC29A1
TIGECYCLINE4SLC29A1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

SymbolAssaysType breakdown
SLC29A149Binding:38, ADMET:9, Functional: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

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)
RIMONABANT4SLC29A1
CELECOXIB4SLC29A1
BENZTROPINE4SLC29A1
PYRVINIUM4SLC29A1
INDOCYANINE GREEN ACID FORM4SLC29A1
BALSALAZIDE4SLC29A1
FIDAXOMICIN4SLC29A1
ROTIGOTINE4SLC29A1
NITAZOXANIDE4SLC29A1
PIMOZIDE4SLC29A1
NAFTOPIDIL4SLC29A1
NIMODIPINE4SLC29A1
GLAFENINE4SLC29A1
FELODIPINE4SLC29A1
OXYPHENCYCLIMINE4SLC29A1
KETOCONAZOLE4SLC29A1
RIFAXIMIN4SLC29A1
DAUNORUBICIN4SLC29A1
NERATINIB4SLC29A1
CANNABIDIOL4SLC29A1
DOMPERIDONE4SLC29A1
APIXABAN4SLC29A1
IDEBENONE4SLC29A1
NILOTINIB4SLC29A1
TACROLIMUS ANHYDROUS4SLC29A1
BOSUTINIB4SLC29A1
ENCORAFENIB4SLC29A1
SELINEXOR4SLC29A1
RIFAMPIN4SLC29A1
TIGECYCLINE4SLC29A1

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1SLC29A1
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified2

Top trials by phase / activity

NCTPhaseStatusTitle
NCT07371520Not specifiedNOT_YET_RECRUITINGApplication of Quantitative Hemorrhage Detection in Fetomaternal Hemorrhage Syndrome for the Diagnosis of Hemolytic Disease of the Newborn
NCT02969174Not specifiedAPPROVED_FOR_MARKETINGEstablish a Non-invasive Prenatal Genotyping and Extraction Technology to Diagnose and Treat the HDN.

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 70

This page pulls from 70 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot