polydactyly, postaxial, type A9
diseaseOn this page
Also known as PAPA9
Summary
polydactyly, postaxial, type A9 (MONDO:0032603) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 3
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | polydactyly, postaxial, type A9 |
| Mondo ID | MONDO:0032603 |
| OMIM | 618219 |
| UMLS | C4748721 |
| MedGen | 1648428 |
| GARD | 0018177 |
| Is cancer (heuristic) | no |
Also known as: PAPA9
Data availability: 3 ClinVar variants · 2 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › polydactyly › non-syndromic polydactyly › postaxial polydactyly › polydactyly, postaxial, type A9
Related subtypes (3): postaxial polydactyly type A, postaxial polydactyly type B, polydactyly, postaxial, type a10
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
3 retrieved; paginated sample, class counts are floors:
2 pathogenic, 1 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1687560 | NM_145269.5(CIBAR1):c.364C>T (p.Arg122Ter) | CIBAR1 | Pathogenic | criteria provided, single submitter |
| 592165 | NM_145269.5(CIBAR1):c.478C>T (p.Arg160Ter) | CIBAR1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 2442170 | NM_145269.5(CIBAR1):c.394_397del (p.Arg132fs) | CIBAR1 | Likely pathogenic | criteria provided, single submitter |
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 |
|---|---|---|---|---|
| CIBAR1 | Moderate | Autosomal recessive | polydactyly, postaxial, type A9 | 3 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| CIBAR1 | Orphanet:93334 | Postaxial polydactyly type A |
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 |
|---|---|---|---|---|---|
| CIBAR1 | HGNC:30452 | ENSG00000188343 | A1XBS5 | CBY1-interacting BAR domain-containing protein 1 | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| CIBAR1 | CBY1-interacting BAR domain-containing protein 1 | Plays a critical role in regulating mitochondrial ultrastructure and function by maintaining the integrity of mitochondrial morphology, particularly the organization of cristae. |
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 |
|---|---|---|---|
| Scaffold/PPI | 1 | 17.3× | 0.058 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| CIBAR1 | Scaffold/PPI | no | CBAR/FAM92, AH/BAR_dom_sf, BAR_CBAR1/2 |
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 |
|---|---|
| left testis | 1 |
| right testis | 1 |
| testis | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| CIBAR1 | 229 | ubiquitous | marker | left testis, right testis, testis |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| CIBAR1 | 744 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| CIBAR1 | A1XBS5 | 1 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| membrane tubulation | 1 | 5617.3× | 0.001 | CIBAR1 |
| limb morphogenesis | 1 | 1053.2× | 0.003 | CIBAR1 |
| inner mitochondrial membrane organization | 1 | 842.6× | 0.003 | CIBAR1 |
| membrane organization | 1 | 510.7× | 0.004 | CIBAR1 |
| positive regulation of smoothened signaling pathway | 1 | 421.3× | 0.004 | CIBAR1 |
| cilium assembly | 1 | 73.6× | 0.018 | CIBAR1 |
| spermatogenesis | 1 | 35.2× | 0.032 | CIBAR1 |
| cell differentiation | 1 | 29.1× | 0.034 | CIBAR1 |
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 |
|---|---|---|
| CIBAR1 | 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 | CIBAR1 |
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) |
|---|---|---|
| CIBAR1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: CIBAR1