Transgrediens et progrediens palmoplantar keratoderma
diseaseOn this page
Also known as Greither diseasekeratosis extremitatum hereditaria progredienskeratosis palmoplantaris transgrediens et progrediensprogressive diffuse palmoplantar keratodermaprogressive diffuse PPKtransgrediens et progrediens PPK
Summary
Transgrediens et progrediens palmoplantar keratoderma (MONDO:0018853) is a disease. A subtype of erythrokeratodermia variabilis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 18
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 21 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
18 HPO clinical features (Orphanet curated; top 18 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0007447 | Diffuse palmoplantar kyperkeratosis | Very frequent (80-99%) |
| HP:0000218 | High palate | Frequent (30-79%) |
| HP:0001041 | Facial erythema | Frequent (30-79%) |
| HP:0001072 | Thickened skin | Frequent (30-79%) |
| HP:0001795 | Hyperconvex nail | Frequent (30-79%) |
| HP:0001810 | Dystrophic toenail | Frequent (30-79%) |
| HP:0005406 | Recurrent bacterial skin infections | Frequent (30-79%) |
| HP:0007404 | Nonepidermolytic palmoplantar keratoderma | Frequent (30-79%) |
| HP:0007556 | Plantar hyperkeratosis | Frequent (30-79%) |
| HP:0008391 | Dystrophic fingernails | Frequent (30-79%) |
| HP:0010765 | Palmar hyperkeratosis | Frequent (30-79%) |
| HP:0011370 | Recurrent cutaneous fungal infections | Frequent (30-79%) |
| HP:0012785 | Flexion contracture of finger | Frequent (30-79%) |
| HP:0030318 | Angular cheilitis | Frequent (30-79%) |
| HP:0001805 | Onychogryposis | Occasional (5-29%) |
| HP:0009775 | Amniotic constriction ring | Occasional (5-29%) |
| HP:0025474 | Erythematous plaque | Occasional (5-29%) |
| HP:0031452 | Lichenoid skin lesion | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | transgrediens et progrediens palmoplantar keratoderma |
| Mondo ID | MONDO:0018853 |
| Orphanet | 495 |
| UMLS | C1851480 |
| MedGen | 338702 |
| GARD | 0003096 |
| Is cancer (heuristic) | no |
Also known as: Greither disease · keratosis extremitatum hereditaria progrediens · keratosis palmoplantaris transgrediens et progrediens · progressive diffuse palmoplantar keratoderma · progressive diffuse PPK · transgrediens et progrediens PPK
Disease family
This is a subtype of erythrokeratodermia variabilis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › keratosis › palmoplantar keratosis › hereditary palmoplantar keratoderma › diffuse palmoplantar keratoderma › erythrokeratodermia variabilis › transgrediens et progrediens palmoplantar keratoderma
Related subtypes (7): erythrokeratodermia variabilis et progressiva 7, erythrokeratodermia variabilis et progressiva 6, erythrokeratodermia variabilis et progressiva 1, erythrokeratodermia variabilis et progressiva 2, erythrokeratodermia variabilis et progressiva 3, erythrokeratodermia variabilis et progressiva 4, erythrokeratodermia variabilis et progressiva 5
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
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.