ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
disease diseaseOn this page
Also known as ECTD11A
Summary
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant (MONDO:0013982) is a disease caused by EDARADD (GenCC Strong), with 1 cohort gene.
At a glance
- Causal gene: EDARADD (GenCC Strong)
- Cohort genes: 1
- ClinVar variants: 44
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
| Mondo ID | MONDO:0013982 |
| OMIM | 614940 |
| DOID | DOID:0111653 |
| UMLS | C3541517 |
| MedGen | 762105 |
| GARD | 0018592 |
| Is cancer (heuristic) | no |
Also known as: ECTD11A · ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Data availability: 44 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 › autosomal genetic disease › autosomal dominant disease › autosomal dominant hypohidrotic ectodermal dysplasia › ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Related subtypes (1): ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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
44 retrieved; paginated sample, class counts are floors:
17 uncertain significance, 8 benign, 6 likely pathogenic, 5 likely benign, 4 benign/likely benign, 3 pathogenic, 1 conflicting classifications of pathogenicity
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 2939815 | NC_000001.11:g.236468231_236468234del | EDARADD | Pathogenic | criteria provided, single submitter |
| 4189 | NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg) | EDARADD | Pathogenic | no assertion criteria provided |
| 473077 | NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter) | EDARADD | Pathogenic | criteria provided, single submitter |
| 1333297 | NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala) | EDARADD | Likely pathogenic | criteria provided, single submitter |
| 1347024 | NC_000001.10:g.(?236631511)(236631596_?)dup | EDARADD | Likely pathogenic | criteria provided, single submitter |
| 253092 | NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn) | EDARADD | Likely pathogenic | criteria provided, single submitter |
| 3581597 | NM_145861.4(EDARADD):c.61+1G>C | EDARADD | Likely pathogenic | criteria provided, single submitter |
| 4188 | NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) | EDARADD | Likely pathogenic | criteria provided, single submitter |
| 4277299 | NM_145861.4(EDARADD):c.359A>T (p.Asp120Val) | EDARADD | Likely pathogenic | criteria provided, single submitter |
| 843361 | NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu) | EDARADD | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1055040 | NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn) | EDARADD | Uncertain significance | criteria provided, single submitter |
| 1354328 | NM_145861.4(EDARADD):c.358_359delinsAT (p.Asp120Ile) | EDARADD | Uncertain significance | criteria provided, single submitter |
| 1439044 | NM_145861.4(EDARADD):c.446C>T (p.Ser149Phe) | EDARADD | Uncertain significance | criteria provided, single submitter |
| 1514540 | NC_000001.10:g.(?236631511)(236645949_?)dup | EDARADD | Uncertain significance | criteria provided, single submitter |
| 1967978 | NM_145861.4(EDARADD):c.22C>G (p.Gln8Glu) | EDARADD | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 2161136 | NM_145861.4(EDARADD):c.101G>A (p.Ser34Asn) | EDARADD | Uncertain significance | criteria provided, single submitter |
| 2188579 | NM_145861.4(EDARADD):c.220G>A (p.Gly74Arg) | EDARADD | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 2938095 | NM_145861.4(EDARADD):c.484A>G (p.Ser162Gly) | EDARADD | Uncertain significance | criteria provided, single submitter |
| 2939545 | NM_145861.4(EDARADD):c.154C>T (p.Pro52Ser) | EDARADD | Uncertain significance | criteria provided, single submitter |
| 2945599 | NM_145861.4(EDARADD):c.404C>T (p.Thr135Met) | EDARADD | Uncertain significance | criteria provided, single submitter |
| 2952473 | NM_145861.4(EDARADD):c.543G>T (p.Glu181Asp) | EDARADD | Uncertain significance | criteria provided, single submitter |
| 2952474 | NM_145861.4(EDARADD):c.548_549del (p.Leu182_Cys183insTer) | EDARADD | Uncertain significance | criteria provided, single submitter |
| 3065706 | NM_145861.4(EDARADD):c.80C>T (p.Pro27Leu) | EDARADD | Uncertain significance | criteria provided, single submitter |
| 3581599 | NM_145861.4(EDARADD):c.358G>C (p.Asp120His) | EDARADD | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3759666 | NM_145861.4(EDARADD):c.53A>G (p.His18Arg) | EDARADD | Uncertain significance | criteria provided, single submitter |
| 540293 | NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln) | EDARADD | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 572712 | NM_145861.4(EDARADD):c.199A>T (p.Asn67Tyr) | EDARADD | Uncertain significance | criteria provided, single submitter |
| 1255368 | NM_145861.4(EDARADD):c.62-41A>G | EDARADD | Benign | criteria provided, multiple submitters, no conflicts |
| 1255369 | NM_145861.4(EDARADD):c.161-33G>C | EDARADD | Benign | criteria provided, multiple submitters, no conflicts |
| 1293214 | NM_145861.4(EDARADD):c.161-6del | EDARADD | Benign | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 9 · 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 |
|---|---|---|---|---|
| EDARADD | Strong | Autosomal dominant | ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | 9 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| EDARADD | Orphanet:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia |
| EDARADD | Orphanet:248 | Autosomal recessive hypohidrotic ectodermal dysplasia |
| EDARADD | Orphanet:99798 | Oligodontia |
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 |
|---|---|---|---|---|---|
| EDARADD | HGNC:14341 | ENSG00000186197 | Q8WWZ3 | Ectodysplasin-A receptor-associated adapter protein | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| EDARADD | Ectodysplasin-A receptor-associated adapter protein | Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. |
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) |
|---|---|---|---|---|
| EDARADD | Other/Unknown | no | Death_dom, DEATH-like_dom_sf, EDARADD |
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 |
|---|---|
| islet of Langerhans | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| sural nerve | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| EDARADD | 147 | broad | marker | islet of Langerhans, sural nerve, male germ line stem cell (sensu Vertebrata) in testis |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| EDARADD | 659 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| EDARADD | Q8WWZ3 | 73.81 |
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 |
|---|---|---|---|---|
| TNFs bind their physiological receptors | 1 | 393.8× | 0.003 | EDARADD |
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 |
|---|---|---|---|---|
| cell differentiation | 1 | 29.1× | 0.062 | EDARADD |
| signal transduction | 1 | 16.1× | 0.062 | EDARADD |
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 |
|---|---|---|
| EDARADD | 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 | EDARADD |
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) |
|---|---|---|
| EDARADD | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: EDARADD