Polydactyly, postaxial, type a10

disease

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Also known as PAPA10

Summary

Polydactyly, postaxial, type a10 (MONDO:0032785) is a disease caused by KIAA0825 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: KIAA0825 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 15

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	polydactyly, postaxial, type a10
Mondo ID	MONDO:0032785
OMIM	618498
UMLS	C5193129
MedGen	1676955
GARD	0018178
Is cancer (heuristic)	no

Also known as: PAPA10

Data availability: 15 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 › polydactyly › non-syndromic polydactyly › postaxial polydactyly › 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

15 retrieved; paginated sample, class counts are floors:

8 uncertain significance, 3 pathogenic, 2 benign, 1 likely pathogenic, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2443829	NM_001145678.3(KIAA0825):c.50T>C (p.Leu17Ser)	KIAA0825	Pathogenic	no assertion criteria provided
2500276	NM_001145678.3(KIAA0825):c.3451_3456+13del	KIAA0825	Pathogenic	criteria provided, single submitter
3629776	NM_001145678.3(KIAA0825):c.3101_3107del (p.Leu1034fs)	KIAA0825	Pathogenic	criteria provided, single submitter
599403	NM_001145678.3(KIAA0825):c.591dup (p.Gln198fs)	KIAA0825	Pathogenic/Likely pathogenic	no assertion criteria provided
2500277	NM_001145678.3(KIAA0825):c.2020T>A (p.Tyr674Asn)	KIAA0825	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1333522	NM_001145678.3(KIAA0825):c.3572C>T (p.Pro1191Leu)	KIAA0825	Uncertain significance	criteria provided, single submitter
2398070	NM_001145678.3(KIAA0825):c.2416C>A (p.Pro806Thr)	KIAA0825	Uncertain significance	criteria provided, multiple submitters, no conflicts
2682176	NM_001145678.3(KIAA0825):c.3517C>T (p.Arg1173Ter)	KIAA0825	Uncertain significance	criteria provided, multiple submitters, no conflicts
3065180	NM_001145678.3(KIAA0825):c.1879A>G (p.Arg627Gly)	KIAA0825	Uncertain significance	criteria provided, single submitter
3779789	NM_001145678.3(KIAA0825):c.3393_3394del (p.Cys1132fs)	KIAA0825	Uncertain significance	criteria provided, single submitter
3891477	NM_001145678.3(KIAA0825):c.1294G>A (p.Val432Ile)	KIAA0825	Uncertain significance	criteria provided, single submitter
4532009	NM_001145678.3(KIAA0825):c.1847G>C (p.Trp616Ser)	KIAA0825	Uncertain significance	criteria provided, single submitter
599402	NM_001145678.3(KIAA0825):c.2173A>T (p.Lys725Ter)	KIAA0825	Uncertain significance	criteria provided, single submitter
1300065	NM_001145678.3(KIAA0825):c.3117T>C (p.Ser1039=)	KIAA0825	Benign	criteria provided, single submitter
1300066	NM_001145678.3(KIAA0825):c.2551G>A (p.Ala851Thr)	KIAA0825	Benign	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · 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
KIAA0825	Strong	Autosomal recessive	polydactyly, postaxial, type a10	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
KIAA0825	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
KIAA0825	HGNC:28532	ENSG00000185261	Q8IV33	Uncharacterized protein KIAA0825	gencc,clinvar

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · 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	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
KIAA0825	Other/Unknown	no		DUF4495

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
adrenal tissue	1
calcaneal tendon	1
male germ line stem cell (sensu Vertebrata) in testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
KIAA0825	167	ubiquitous	marker	male germ line stem cell (sensu Vertebrata) in testis, adrenal tissue, calcaneal tendon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KIAA0825	469

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
KIAA0825	Q8IV33	74.33

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
KIAA0825	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	KIAA0825

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)
KIAA0825	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: KIAA0825