amelogenesis imperfecta hypomaturation type 2A4
diseaseOn this page
Also known as AI2A4amelogenesis imperfecta caused by mutation in ODAPHamelogenesis imperfecta, hypomaturation type, IIA4amelogenesis imperfecta, type IIA4ODAPH amelogenesis imperfecta
Summary
amelogenesis imperfecta hypomaturation type 2A4 (MONDO:0013906) is a disease caused by ODAPH (GenCC Strong), with 1 cohort gene.
At a glance
- Causal gene: ODAPH (GenCC Strong)
- Cohort genes: 1
- ClinVar variants: 6
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | amelogenesis imperfecta hypomaturation type 2A4 |
| Mondo ID | MONDO:0013906 |
| OMIM | 614832 |
| DOID | DOID:0110062 |
| UMLS | C3553830 |
| MedGen | 766744 |
| GARD | 0015847 |
| Is cancer (heuristic) | no |
Also known as: AI2A4 · amelogenesis imperfecta caused by mutation in ODAPH · amelogenesis imperfecta, hypomaturation type, IIA4 · amelogenesis imperfecta, type IIA4 · ODAPH amelogenesis imperfecta
Data availability: 6 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 › amelogenesis imperfecta › amelogenesis imperfecta type 2 › amelogenesis imperfecta hypomaturation type 2A4
Related subtypes (6): amelogenesis imperfecta type 2A1, amelogenesis imperfecta type 1E, amelogenesis imperfecta hypomaturation type 2A2, amelogenesis imperfecta hypomaturation type 2A3, amelogenesis imperfecta hypomaturation type 2A5, amelogenesis imperfecta, hypomaturation type, IIa6
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
6 retrieved; paginated sample, class counts are floors:
3 pathogenic, 3 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 37216 | NM_178497.5(ODAPH):c.229C>T (p.Arg77Ter) | ODAPH | Pathogenic | criteria provided, single submitter |
| 37217 | NM_178497.5(ODAPH):c.129C>A (p.Cys43Ter) | ODAPH | Pathogenic | no assertion criteria provided |
| 37218 | NM_178497.5(ODAPH):c.68-2A>T | ODAPH | Pathogenic | no assertion criteria provided |
| 37219 | NM_178497.3(C4orf26):c.318G>A | ODAPH | Likely pathogenic | criteria provided, single submitter |
| 37220 | NM_178497.5(ODAPH):c.51_56delinsATGCTGGTTACTGGTA (p.Val18fs) | ODAPH | Likely pathogenic | criteria provided, single submitter |
| 4813733 | NM_178497.5(ODAPH):c.225dup (p.Pro76fs) | ODAPH | Likely pathogenic | 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 |
|---|---|---|---|---|
| ODAPH | Strong | Autosomal recessive | amelogenesis imperfecta hypomaturation type 2A4 | 4 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| ODAPH | Orphanet:100033 | Hypomaturation amelogenesis imperfecta |
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 |
|---|---|---|---|---|---|
| ODAPH | HGNC:26300 | ENSG00000174792 | Q17RF5 | Odontogenesis associated phosphoprotein | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| ODAPH | Odontogenesis associated phosphoprotein | May promote nucleation of hydroxyapatite. |
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) |
|---|---|---|---|---|
| ODAPH | Other/Unknown | no | ODAPH |
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 |
|---|---|
| buccal mucosa cell | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| placenta | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| ODAPH | 153 | broad | yes | male germ line stem cell (sensu Vertebrata) in testis, buccal mucosa cell, placenta |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| ODAPH | 341 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| ODAPH | Q17RF5 | 61.64 |
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 |
|---|---|---|---|---|
| positive regulation of enamel mineralization | 1 | 3370.4× | 4e-04 | ODAPH |
| positive regulation of biomineral tissue development | 1 | 2808.7× | 4e-04 | ODAPH |
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 |
|---|---|---|
| ODAPH | 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 | ODAPH |
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) |
|---|---|---|
| ODAPH | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: ODAPH