Congenital heart defects, multiple types, 5
diseaseOn this page
Also known as CHTD5
Summary
Congenital heart defects, multiple types, 5 (MONDO:0060663) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 27
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | congenital heart defects, multiple types, 5 |
| Mondo ID | MONDO:0060663 |
| OMIM | 617912 |
| UMLS | C4693563 |
| MedGen | 1636547 |
| Is cancer (heuristic) | no |
Also known as: CHTD5
Data availability: 27 ClinVar variants · 4 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › heart disorder › congenital heart disease › congenital heart defects, multiple types › congenital heart defects, multiple types, 5
Related subtypes (7): congenital heart defects, multiple types, 6, congenital heart defects, multiple types, 3, congenital heart defects, multiple types, 2, congenital heart defects, multiple types, 4, MYH-6 related congenital heart defects, congenital heart defects, multiple types, 8, with or without heterotaxy, congenital heart defects, multiple types, 9
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
27 retrieved; paginated sample, class counts are floors:
12 uncertain significance, 7 conflicting classifications of pathogenicity, 4 pathogenic, 3 benign, 1 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 496599 | NM_080473.5(GATA5):c.569T>C (p.Val190Ala) | GATA5 | Pathogenic | no assertion criteria provided |
| 496600 | NM_080473.5(GATA5):c.595C>G (p.Leu199Val) | GATA5 | Pathogenic | no assertion criteria provided |
| 496601 | NM_080473.5(GATA5):c.598T>G (p.Trp200Gly) | GATA5 | Pathogenic | no assertion criteria provided |
| 496602 | NM_080473.5(GATA5):c.46T>G (p.Tyr16Asp) | GATA5 | Pathogenic | no assertion criteria provided |
| 4277395 | NM_080473.5(GATA5):c.699+1G>A | GATA5 | Likely pathogenic | criteria provided, single submitter |
| 1031059 | NM_080473.5(GATA5):c.477C>G (p.Phe159Leu) | GATA5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1201923 | NM_080473.5(GATA5):c.232G>A (p.Gly78Ser) | GATA5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1220210 | NM_080473.5(GATA5):c.1088A>G (p.Lys363Arg) | GATA5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1533335 | NM_080473.5(GATA5):c.616G>C (p.Gly206Arg) | GATA5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1961852 | NM_080473.5(GATA5):c.714C>T (p.Arg238=) | GATA5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 420167 | NM_080473.5(GATA5):c.424T>C (p.Tyr142His) | GATA5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 809265 | NM_080473.5(GATA5):c.56C>G (p.Ser19Trp) | GATA5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1190007 | NM_080473.5(GATA5):c.83C>T (p.Ala28Val) | GATA5 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1207765 | NM_080473.5(GATA5):c.395G>A (p.Arg132Gln) | GATA5 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1251953 | NM_080473.5(GATA5):c.755C>A (p.Thr252Lys) | GATA5 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1398284 | NM_080473.5(GATA5):c.448G>A (p.Val150Met) | GATA5 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1426550 | NM_080473.5(GATA5):c.713G>A (p.Arg238His) | GATA5 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1431104 | NM_080473.5(GATA5):c.743C>T (p.Thr248Met) | GATA5 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1509212 | NM_080473.5(GATA5):c.1175G>A (p.Cys392Tyr) | GATA5 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1915561 | NM_080473.5(GATA5):c.92C>T (p.Pro31Leu) | GATA5 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 2432052 | NM_080473.5(GATA5):c.405G>T (p.Gly135=) | GATA5 | Uncertain significance | criteria provided, single submitter |
| 2432054 | NM_080473.5(GATA5):c.226G>T (p.Gly76Cys) | GATA5 | Uncertain significance | criteria provided, single submitter |
| 3893084 | NM_080473.5(GATA5):c.46T>C (p.Tyr16His) | GATA5 | Uncertain significance | criteria provided, single submitter |
| 977500 | NM_080473.5(GATA5):c.695G>A (p.Arg232His) | GATA5 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1174638 | NM_080473.5(GATA5):c.852G>A (p.Lys284=) | GATA5 | Benign | criteria provided, multiple submitters, no conflicts |
| 1174882 | NM_080473.5(GATA5):c.981G>C (p.Ser327=) | GATA5 | Benign | criteria provided, multiple submitters, no conflicts |
| 1175101 | NM_080473.5(GATA5):c.1128A>G (p.Pro376=) | GATA5 | Benign | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 7 · 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.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| GATA5 | Moderate | Autosomal dominant | congenital heart defects, multiple types, 5 | 7 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| GATA5 | Orphanet:3303 | Tetralogy of Fallot |
| GATA5 | Orphanet:334 | Hereditary atrial fibrillation |
| GATA5 | Orphanet:402075 | Familial bicuspid aortic valve |
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 |
|---|---|---|---|---|---|
| GATA5 | HGNC:15802 | ENSG00000130700 | Q9BWX5 | Transcription factor GATA-5 | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| GATA5 | Transcription factor GATA-5 | Transcription factor required during cardiovascular development. |
Protein-family classification
Druggable: 0 · Difficult: 1 · Unknown: 0 · 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 |
|---|---|---|---|
| Transcription factor | 1 | 8.3× | 0.121 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| GATA5 | Transcription factor | no | Znf_GATA, GATA_N, Znf_NHR/GATA |
Expression context
Cohort genes with no expression data: 0.
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 |
|---|---|
| ileal mucosa | 1 |
| jejunal mucosa | 1 |
| left uterine tube | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| GATA5 | 106 | broad | yes | ileal mucosa, left uterine tube, jejunal mucosa |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| GATA5 | 2,434 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| GATA5 | Q9BWX5 | 59.91 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 1. 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 |
|---|---|---|---|---|
| Factors involved in megakaryocyte development and platelet production | 1 | 66.4× | 0.015 | GATA5 |
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 cardiac endothelial to mesenchymal transition | 1 | 16852.0× | 0.001 | GATA5 |
| endocardial cushion fusion | 1 | 3370.4× | 0.002 | GATA5 |
| positive regulation of apoptotic DNA fragmentation | 1 | 2808.7× | 0.002 | GATA5 |
| heart induction | 1 | 2106.5× | 0.002 | GATA5 |
| intestinal epithelial cell differentiation | 1 | 1532.0× | 0.002 | GATA5 |
| negative regulation of cardiac muscle hypertrophy | 1 | 1123.5× | 0.002 | GATA5 |
| cellular response to nitric oxide | 1 | 936.2× | 0.002 | GATA5 |
| cardiac muscle tissue development | 1 | 887.0× | 0.002 | GATA5 |
| cellular response to BMP stimulus | 1 | 561.7× | 0.003 | GATA5 |
| aortic valve morphogenesis | 1 | 432.1× | 0.004 | GATA5 |
| positive regulation of Notch signaling pathway | 1 | 351.1× | 0.004 | GATA5 |
| cell fate commitment | 1 | 295.6× | 0.005 | GATA5 |
| cellular response to hydrogen peroxide | 1 | 234.1× | 0.006 | GATA5 |
| negative regulation of gene expression | 1 | 69.1× | 0.018 | GATA5 |
| positive regulation of gene expression | 1 | 38.7× | 0.029 | GATA5 |
| negative regulation of transcription by RNA polymerase II | 1 | 17.7× | 0.060 | GATA5 |
| positive regulation of transcription by RNA polymerase II | 1 | 14.9× | 0.067 | GATA5 |
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 |
|---|---|---|
| GATA5 | 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 | GATA5 |
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) |
|---|---|---|
| GATA5 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: GATA5