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| Terms & Properties |
Concept Unique Identifier (CUI): C0162566
NCI Thesaurus Code: C27725 (see NCI Thesaurus info)
Semantic Type: Disease or Syndrome
NCIt Definition: A cutaneous form of the genetic photosensitive disease, porphyria, that is characterized by onset in adult life and the presence of scarring bullae, hyperpigmentation, facial hypertrichosis, and sometimes sclerodermatous thickenings and alopecia. Uroporphyrins are found in the urine due to a deficiency of uroporphyrinogen decarboxylase, an enzyme required for the synthesis of heme.
GARD Definition: Porphyria cutanea tarda (PCT) is the most common type of porphyria with a prevalence of approximately 1 in 10,000. It is characterized by cutaneous blisters that develop on sun-exposed areas of the skin such as the hands and face. The skin in these areas may blister or peel after minor trauma. Increased hair growth, as well as darkening and thickening, of the skin may also occur. Neurological and abdominal symptoms are not characteristic of PCT. Liver function abnormalities are common, but are usually mild. Progression to cirrhosis and even liver cancer occurs in some patients. PCT is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase. Excess iron and multiple other susceptibility factors, including alcohol, estrogens, smoking, chronic hepatitis C, HIV and mutations in the HFE gene which is associated with the disease hemochromatosis, contribute to the development of PCT. PCT is managed with regular phlebotomies or a low dose regimen of hydroxychloroquine as well as removal of factors that activated the disease. - this information is from GARD/ORDR/NCATS.
MSH Definition: An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in the LIVER. It is characterized by photosensitivity and cutaneous lesions with little or no neurologic symptoms. Type I is the acquired form and is strongly associated with liver diseases and hepatic toxicities caused by alcohol or estrogenic steroids. Type II is the familial form.
Synonyms & Abbreviations: (see Synonym Details)
| CHP - cutaneous hepatic porphyria |
| Cutaneous hepatic porphyria |
| PCT - porphyria cutanea tarda |
| PCT, TYPE II |
| PCT |
| Porphyria cutanea tarda (disorder) |
| PORPHYRIA CUTANEA TARDA SYMPTOMATICA |
| PORPHYRIA CUTANEA TARDA, TYPE II |
| porphyria cutanea tarda |
| PORPHYRIA, HEPATOCUTANEOUS TYPE |
| Symptomatic porphyria |
| Urocoproporphyria |
External Source Codes:
| NCI Thesaurus Code | C27725 (see NCI Thesaurus info) |
Other Properties:
| Name | Value | Source |
|---|---|---|
| ACTIVE | 1 | SNOMEDCT_US |
| AQL | BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI | MSH |
| CASE_SIGNIFICANCE_ID | 900000000000017005 | SNOMEDCT_US |
| CASE_SIGNIFICANCE_ID | 900000000000448009 | SNOMEDCT_US |
| Contributing_Source | Cellosaurus | NCI |
| CTV3ID | C3714 | SNOMEDCT_US |
| DATE_CREATED | 2015-01-22T00:04:00 | GARD |
| DC | 1 | MSH |
| DEFINITION_STATUS_ID | 900000000000074008 | SNOMEDCT_US |
| DID | 1849-7674 | CSP |
| DISEASE_IDENTIFIER_ID | 30315 | GARD |
| DX | 19930101 | MSH |
| EFFECTIVE_TIME | 20020131 | SNOMEDCT_US |
| GENELOCUS | 6p21.3 | OMIM |
| GENESYMBOL | HFE1 | OMIM |
| GENESYMBOL | HFE | OMIM |
| GENESYMBOL | HLA-H | OMIM |
| GENESYMBOL | MVCD7 | OMIM |
| GENESYMBOL | TFQTL2 | OMIM |
| HAS_GARD_PAGE | true | GARD |
| HN | 95; was PORPHYRIA, CUTANEA TARDA 1993-94 | MSH |
| IDENTIFIER_SOURCE | Orp | GARD |
| IDENTIFIER_TYPE_ID | 1 | GARD |
| IS_ACTIVE | true | GARD |
| IS_RARE | true | GARD |
| IS_SPANISH | false | GARD |
| LAST_REVIEW_DATE | 2009-12-15T00:00:00 | GARD |
| MDA | 19920522 | MSH |
| MIMTYPE | 3 | OMIM |
| MIMTYPEMEANING | Phenotype description, molecular basis known. | OMIM |
| MIMTYPEVALUE | pound | OMIM |
| MMR | 20180630 | MSH |
| MN | C06.552.830.100 | MSH |
| MN | C16.320.850.742.250 | MSH |
| MN | C17.800.827.742.250 | MSH |
| MN | C18.452.811.400.250 | MSH |
| OL | use PORPHYRIA CUTANEA TARDA to search PORPHYRIA, CUTANEA TARDA 1993-94 | MSH |
| ORDER_NO | 04913 | ICD10CM |
| PM | 95; was PORPHYRIA, CUTANEA TARDA 1993-94 | MSH |
| RARE_DISEASE_URL | http://rarediseases.info.nih.gov/gard/7433/porphyria-cutanea-tarda/resources/1 | GARD |
| SMQ_TERM_ADDVERSION | 10.0 | MDR |
| SMQ_TERM_ADDVERSION | 8.0 | MDR |
| SMQ_TERM_CAT | A | MDR |
| SMQ_TERM_LEVEL | 5 | MDR |
| SMQ_TERM_LMVERSION | 14.0 | MDR |
| SMQ_TERM_LMVERSION | 8.0 | MDR |
| SMQ_TERM_SCOPE | 1 | MDR |
| SMQ_TERM_SCOPE | 2 | MDR |
| SMQ_TERM_STATUS | A | MDR |
| SMQ_TERM_WEIGHT | 0 | MDR |
| SOS | Caused by mutation in the uroporphyrinogen decarboxylase gene (UROD, 613521.0001) [MOLECULAR BASIS] | OMIM |
| SOS | Hepatoerythropoietic porphyria (HEP, 176100.0005) is a severe infantile form due to homozygous PCT [MISCELLANEOUS] | OMIM |
| SOS | More common in men than women [MISCELLANEOUS] | OMIM |
| SOS | Most common form of porphyria [MISCELLANEOUS] | OMIM |
| SOS | Sporadic or acquired PCT precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons [MISCELLANEOUS] | OMIM |
| SOS | Susceptibility conferred by mutation in the HFE gene (HFE, 613609.0001) [MOLECULAR BASIS] | OMIM |
| SOS | Three types of PCT: Type I (176090) sporadic, presents in adults: Types II and III (176100) familial, presents in childhood [MISCELLANEOUS] | OMIM |
| SUBSET_MEMBER | 900000000000497000~MAPTARGET~C3714 | SNOMEDCT_US |
| TERMUI | T051122 | MSH |
| TH | NLM (1993) | MSH |
| TYPE_ID | 900000000000003001 | SNOMEDCT_US |
| TYPE_ID | 900000000000013009 | SNOMEDCT_US |
Additional Concept Data: (none)
URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0162566
