Recessive dystrophic epidermolysis bullosa-generalized other
disease diseaseOn this page
Also known as autosomal recessive dystrophic epidermolysis bullosa generalisata mitisautosomal recessive dystrophic epidermolysis bullosa, generalised otherautosomal recessive dystrophic epidermolysis bullosa, generalized othergeneralised mitis RDEBgeneralized mitis RDEBRDEB generalisata mitisRDEB, generalised intermediateRDEB, generalized intermediateRDEB, non-Hallopeau-Siemens typeRDEB-generalized otherRDEB-Orecessive dystrophic epidermolysis bullosa, generalised intermediaterecessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Summary
Recessive dystrophic epidermolysis bullosa-generalized other (MONDO:0019522) is a disease with 1 cohort gene.
At a glance
- Prevalence: Unknown (Worldwide)
- Cohort genes: 1
- Phenotypes (HPO): 46
Clinical features
Signs & symptoms
Clinical features (HPO)
46 HPO clinical features (Orphanet curated; top 46 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000987 | Atypical scarring of skin | Very frequent (80-99%) |
| HP:0001030 | Fragile skin | Very frequent (80-99%) |
| HP:0001510 | Growth delay | Very frequent (80-99%) |
| HP:0001903 | Anemia | Very frequent (80-99%) |
| HP:0004325 | Decreased body weight | Very frequent (80-99%) |
| HP:0008066 | Abnormal blistering of the skin | Very frequent (80-99%) |
| HP:0031903 | Abnormal circulating selenium concentration | Very frequent (80-99%) |
| HP:0000670 | Carious teeth | Frequent (30-79%) |
| HP:0001056 | Milia | Frequent (30-79%) |
| HP:0001508 | Failure to thrive | Frequent (30-79%) |
| HP:0001581 | Recurrent skin infections | Frequent (30-79%) |
| HP:0002015 | Dysphagia | Frequent (30-79%) |
| HP:0002019 | Constipation | Frequent (30-79%) |
| HP:0002020 | Gastroesophageal reflux | Frequent (30-79%) |
| HP:0002031 | Abnormal esophagus morphology | Frequent (30-79%) |
| HP:0002043 | Esophageal stricture | Frequent (30-79%) |
| HP:0003073 | Hypoalbuminemia | Frequent (30-79%) |
| HP:0003202 | Skeletal muscle atrophy | Frequent (30-79%) |
| HP:0003234 | Decreased circulating carnitine concentration | Frequent (30-79%) |
| HP:0004395 | Malnutrition | Frequent (30-79%) |
| HP:0007400 | Irregular hyperpigmentation | Frequent (30-79%) |
| HP:0010450 | Esophageal stenosis | Frequent (30-79%) |
| HP:0011968 | Feeding difficulties | Frequent (30-79%) |
| HP:0031831 | Decreased serum zinc | Frequent (30-79%) |
| HP:0032676 | Chronic cutaneous wound | Frequent (30-79%) |
| HP:0040303 | Decreased serum iron | Frequent (30-79%) |
| HP:0100512 | Low levels of vitamin D | Frequent (30-79%) |
| HP:0200041 | Skin erosion | Frequent (30-79%) |
| HP:0000160 | Narrow mouth | Occasional (5-29%) |
| HP:0000572 | Visual loss | Occasional (5-29%) |
| HP:0000716 | Depression | Occasional (5-29%) |
| HP:0000739 | Anxiety | Occasional (5-29%) |
| HP:0000823 | Delayed puberty | Occasional (5-29%) |
| HP:0001057 | Aplasia cutis congenita | Occasional (5-29%) |
| HP:0001371 | Flexion contracture | Occasional (5-29%) |
| HP:0001644 | Dilated cardiomyopathy | Occasional (5-29%) |
| HP:0001798 | Anonychia | Occasional (5-29%) |
| HP:0001802 | Absent toenail | Occasional (5-29%) |
| HP:0002164 | Nail dysplasia | Occasional (5-29%) |
| HP:0003764 | Nevus | Occasional (5-29%) |
| HP:0004057 | Mitten deformity | Occasional (5-29%) |
| HP:0010296 | Ankyloglossia | Occasional (5-29%) |
| HP:0011471 | Gastrostomy tube feeding in infancy | Occasional (5-29%) |
| HP:0012390 | Anal fissure | Occasional (5-29%) |
| HP:0200020 | Corneal erosion | Occasional (5-29%) |
| HP:0002860 | Squamous cell carcinoma | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | recessive dystrophic epidermolysis bullosa-generalized other |
| Mondo ID | MONDO:0019522 |
| Orphanet | 89842 |
| UMLS | C4511044 |
| MedGen | 1392226 |
| GARD | 0012794 |
| Is cancer (heuristic) | no |
Also known as: autosomal recessive dystrophic epidermolysis bullosa generalisata mitis · autosomal recessive dystrophic epidermolysis bullosa, generalised other · autosomal recessive dystrophic epidermolysis bullosa, generalized other · generalised mitis RDEB · generalized mitis RDEB · RDEB generalisata mitis · RDEB, generalised intermediate · RDEB, generalized intermediate · RDEB, non-Hallopeau-Siemens type · RDEB-generalized other · RDEB-O · recessive dystrophic epidermolysis bullosa, generalised intermediate · recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Data availability: 1 GenCC gene-disease record.
Disease family
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › vesiculobullous skin disease › epidermolysis bullosa › inherited epidermolysis bullosa › epidermolysis bullosa dystrophica › recessive dystrophic epidermolysis bullosa-generalized other
Related subtypes (11): transient bullous dermolysis of the newborn, generalized dominant dystrophic epidermolysis bullosa, pretibial dystrophic epidermolysis bullosa, epidermolysis bullosa dystrophica Neurotrophica, recessive dystrophic epidermolysis bullosa, dystrophic epidermolysis bullosa pruriginosa, acral dystrophic epidermolysis bullosa, dystrophic epidermolysis bullosa, nails only, centripetalis recessive dystrophic epidermolysis bullosa, localized dystrophic epidermolysis bullosa, epidermolysis bullosa dystrophica with subcorneal cleavage
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
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 26 · Orphanet: 9 · 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 |
|---|---|---|---|---|
| COL7A1 | Definitive | Autosomal recessive | recessive dystrophic epidermolysis bullosa | 26 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| COL7A1 | Orphanet:158673 | Localized dystrophic epidermolysis bullosa, acral form |
| COL7A1 | Orphanet:158676 | Localized dystrophic epidermolysis bullosa, nails only |
| COL7A1 | Orphanet:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa |
| COL7A1 | Orphanet:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form |
| COL7A1 | Orphanet:79409 | Recessive dystrophic epidermolysis bullosa inversa |
| COL7A1 | Orphanet:79410 | Localized dystrophic epidermolysis bullosa, pretibial form |
| COL7A1 | Orphanet:79411 | Self-improving dystrophic epidermolysis bullosa |
| COL7A1 | Orphanet:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form |
| COL7A1 | Orphanet:89843 | Dystrophic epidermolysis bullosa pruriginosa |
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 |
|---|---|---|---|---|---|
| COL7A1 | HGNC:2214 | ENSG00000114270 | Q02388 | Collagen alpha-1(VII) chain | gencc |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| COL7A1 | Collagen alpha-1(VII) chain | Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV c… |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0
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 |
|---|---|---|---|
| Antibody/Immunoglobulin | 1 | 29.2× | 0.034 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| COL7A1 | Antibody/Immunoglobulin | yes | VWF_A, Kunitz_BPTI, FN3_dom |
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 |
|---|---|
| skin of abdomen | 1 |
| skin of leg | 1 |
| stromal cell of endometrium | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| COL7A1 | 267 | ubiquitous | marker | stromal cell of endometrium, skin of abdomen, skin of leg |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| COL7A1 | 1,767 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| COL7A1 | Q02388 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 10. 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 |
|---|---|---|---|---|
| Anchoring fibril formation | 1 | 761.3× | 0.007 | COL7A1 |
| Fibronectin matrix formation | 1 | 571.0× | 0.007 | COL7A1 |
| Laminin interactions | 1 | 380.7× | 0.007 | COL7A1 |
| Cargo concentration in the ER | 1 | 335.9× | 0.007 | COL7A1 |
| Collagen chain trimerization | 1 | 259.6× | 0.007 | COL7A1 |
| Assembly of collagen fibrils and other multimeric structures | 1 | 200.3× | 0.007 | COL7A1 |
| Collagen degradation | 1 | 175.7× | 0.007 | COL7A1 |
| Collagen biosynthesis and modifying enzymes | 1 | 170.4× | 0.007 | COL7A1 |
| COPII-mediated vesicle transport | 1 | 163.1× | 0.007 | COL7A1 |
| Integrin cell surface interactions | 1 | 134.3× | 0.007 | COL7A1 |
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 |
|---|---|---|---|---|
| endodermal cell differentiation | 1 | 495.6× | 0.006 | COL7A1 |
| epidermis development | 1 | 210.7× | 0.007 | COL7A1 |
| cell adhesion | 1 | 37.5× | 0.027 | COL7A1 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| COL7A1 | 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 | 1 | COL7A1 |
| E | Difficult family or no structure, no drug | 0 |
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) |
|---|---|---|
| COL7A1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: COL7A1