ORPHA:2309
Pachyonychia congenita
Synonyms: PC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare genetic skin disease predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and white plaques affecting tongue and oral mucosa.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pachyonychia congenita | PC |
| fr | Pachyonychie congénitale | = en |
| de | Pachyonychia congenita | PC · Pachyonychie, kongenitale |
| es | Paquioniquia congénita | = en |
| it | Pachionichia congenita | = en |
| nl | Pachyonychia congenita | = en |
| pt | Paquioniquia congénita | = en |
| pl | Wrodzone zgrubienie paznokci | = en |
| cs | Vrozená panyonychie | = en |
| uk | Вроджена пахіоніхія | = en |
| zh | 先天性厚甲症 | = en |
| tr | Pakioniki konjenita | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 167200 | BTNT | validated | |
| OMIM | 167210 | BTNT | validated | |
| OMIM | 260130 | BTNT | validated | |
| OMIM | 615726 | BTNT | validated | |
| OMIM | 615728 | BTNT | validated | |
| ICD-10 | Q84.5 | NTBT | attributed | validated |
| ICD-11 | LD27.Y | NTBT | index | validated |
| MONDO | 0016471 | E | validated | |
| MeSH | D053549 | E | validated | |
| UMLS | C0265334 | E | validated | |
| GARD | 10753 | E | validated | |
| MedDRA | 10080088 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98353Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:79370Syndromic nail anomaly
rare genetic diseases; rare skin diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT16 | Disease-causing germline mutation(s) in | Assessed | HGNC:6423 | ENSG00000186832 | 148067 | 17q21.2 | keratin 16 | 20301457[PMID] |
| KRT17 | Disease-causing germline mutation(s) in | Assessed | HGNC:6427 | ENSG00000128422 | 148069 | 17q21.2 | keratin 17 | 20301457[PMID] |
| KRT6A | Disease-causing germline mutation(s) in | Assessed | HGNC:6443 | ENSG00000205420 | 148041 | 12q13.13 | keratin 6A | 20301457[PMID] |
| KRT6B | Disease-causing germline mutation(s) in | Assessed | HGNC:6444 | ENSG00000185479 | 148042 | 12q13.13 | keratin 6B | 20301457[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1000 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | 0.09 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
27 annotations · validated 2020-05-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030268 | Hyperplastic callus formation | |
| HP:0012514 | Lower limb pain | |
| HP:0008404 | Nail dystrophy | |
| HP:0008401 | Onychogryposis of toenails | |
| HP:0007446 | Palmoplantar blistering | |
| HP:0000982 | Palmoplantar keratoderma | |
| Frequent (79-30%) | ||
| HP:0025245 | Cutaneous cyst | |
| HP:0200040 | Epidermoid cyst | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0007502 | Follicular hyperkeratosis | |
| HP:0007490 | Linear arrays of macular hyperkeratoses in flexural areas | |
| HP:0040036 | Onychogryposis of fingernail | |
| HP:0002745 | Oral leukoplakia | |
| HP:0010765 | Palmar hyperkeratosis | |
| HP:0007410 | Palmoplantar hyperhidrosis | |
| HP:0012035 | Steatocystoma multiplex | |
| Occasional (29-5%) | ||
| HP:0006288 | Advanced eruption of teeth | |
| HP:0030766 | Ear pain | |
| HP:0025248 | Eruptive vellus hair cyst | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0000695 | Natal tooth | |
| HP:0001818 | Paronychia | |
| Very rare (<4-1%) | ||
| HP:0001596 | Alopecia | |
| HP:0030318 | Angular cheilitis | |
| HP:0001609 | Hoarse voice | |
| HP:0002098 | Respiratory distress | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301457[PMID]_23056978[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2309
- This record as JSON: /data/d/2309.json