ORPHA:101330
Porphyria cutanea tarda
Synonyms: PCT
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Multigenic/multifactorial
- Age of onset
- Adult
- Status
- active
A rare hepatic porphyria with cutaneous expression (PCT) characterized by bullous photodermatosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Porphyria cutanea tarda | PCT |
| fr | Porphyrie cutanée tardive | = en |
| de | Porphyria cutanea tarda (PCT) | |
| es | Porfiria cutánea tarda | |
| it | Porfiria cutanea tarda | = en |
| nl | Porphyria cutanea tarda | = en |
| pt | Porfiria cutânea tardia | |
| pl | Porfiria skórna późna | = en |
| cs | Porphyria cutanea tarda | PCT · Pozdní kožní porfyrie |
| uk | Пізня шкірна порфірія | = en |
| zh | 迟发性皮肤卟啉症 | = en |
| tr | Porfiria kutanea tarda | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176090 | BTNT | validated | |
| OMIM | 176100 | BTNT | validated | |
| ICD-10 | E80.1 | E | specific | validated |
| ICD-11 | 5C58.10 | E | specific | validated |
| MONDO | 0015104 | E | validated | |
| MeSH | D017119 | E | validated | |
| UMLS | C0162566 | E | validated | |
| GARD | 7433 | E | validated | |
| MedDRA | 10036183 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:659698Hepatic cutaneous porphyria
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare skin diseases; rare renal diseases
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Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| UROD | ORPHA:443062Familial porphyria cutanea tarda | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12591 | ENSG00000126088 | 613521 | 1p34.1 | uroporphyrinogen decarboxylase | 23741761[PMID] |
| HFE | ORPHA:443057Sporadic porphyria cutanea tarda | Major susceptibility factor in | Assessed | HGNC:4886 | ENSG00000010704 | 613609 | 6p22.2 | homeostatic iron regulator | 23741761[PMID] |
| HFE | ORPHA:443062Familial porphyria cutanea tarda | Modifying germline mutation in | Assessed | HGNC:4886 | ENSG00000010704 | 613609 | 6p22.2 | homeostatic iron regulator | 23741761[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | Norway | Value and class | Validated | 19233912[PMID] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Sweden | Value and class | Validated | 16191856[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.6 / 100 000 | Europe | Value and class | Validated | 19233912[PMID]_9516680[PMID]_[EXPERT]_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
39 annotations · validated 2021-05-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0010472 | Abnormal circulating porphyrin concentration | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0032500 | Exacerbated by tobacco use | |
| HP:0001030 | Fragile skin | |
| HP:0010473 | Porphyrinuria | |
| Frequent (79-30%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0030272 | Abnormal erythrocyte enzyme activity | |
| HP:0030955 | Alcoholism | |
| HP:0200123 | Chronic hepatitis | |
| HP:0012465 | Elevated hepatic iron concentration | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0003452 | Increased circulating iron concentration | |
| HP:0012217 | Increased urinary porphobilinogen | |
| HP:0012531 | Pain | |
| HP:0001058 | Poor wound healing | |
| Occasional (29-5%) | ||
| HP:0000559 | Corneal scarring | |
| HP:0031292 | Cutaneous abscess | |
| HP:0031876 | Decreased circulating hepcidin concentration | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000656 | Ectropion | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0004377 | Hematological neoplasm | |
| HP:0033197 | Hepatic lobular inflammation | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0001007 | Hirsutism | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0000998 | Hypertrichosis | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0032999 | Increased fecal porphyrin | |
| HP:0001405 | Periportal fibrosis | |
| HP:0033196 | Portal inflammation | |
| HP:0005406 | Recurrent bacterial skin infections | |
| HP:0040189 | Scaling skin | |
| HP:0100699 | Scarring | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0002725 | Systemic lupus erythematosus | |
| HP:0006562 | Viral hepatitis | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 18720935[PMID]_30683557[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101330
- This record as JSON: /data/d/101330.json