eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| porphyria cutanea tarda | ||||
| Disease ID | 130 |
|---|---|
| Disease | porphyria cutanea tarda |
| 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. |
| Synonym | chp - cutaneous hepatic porphyria cutaneous hepatic porphyria pct - porphyria cutanea tarda pct, type ii porphyria cutanea tarda (disorder) porphyria cutanea tarda (pct) porphyria cutanea tarda [disease/finding] porphyria cutanea tarda symptomatica porphyria cutanea tarda, nos porphyria cutanea tarda, type ii porphyria, hepatocutaneous type symptomatic porphyria urocoproporphyria |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0162566 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0026769 | multiple sclerosis | 1 C0409974 | lupus erythematosus | 1 C0022661 | chronic renal failure | 1 C1527336 | sjogren's syndrome | 1 C1621895 | adrenal hyperplasia | 1 C0024141 | systemic lupus erythematosus | 1 C0018995 | hemochromatosis | 1 C0031048 | constrictive pericarditis | 1 C0033860 | psoriasis | 1 C0023903 | liver cancer | 1 C0020456 | hyperglycemia | 1 C0019158 | hepatitis | 1 C0001627 | congenital adrenal hyperplasia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:35) 10257 | ABCC4 | 1.031 | DISEASES 58 | ACTA1 | 1.316 | DISEASES 174 | AFP | 1.025 | DISEASES 1645 | AKR1C1 | 1.03 | DISEASES 1646 | AKR1C2 | 1.306 | DISEASES 210 | ALAD | 4.319 | DISEASES 212 | ALAS2 | 2.541 | DISEASES 846 | CASR | 1.186 | DISEASES 959 | CD40LG | 1.074 | DISEASES 1543 | CYP1A1 | 1.552 | DISEASES 1544 | CYP1A2 | 4.514 | DISEASES 1555 | CYP2B6 | 3.188 | DISEASES 1576 | CYP3A4 | 1.057 | DISEASES 2235 | FECH | 2.627 | DISEASES 8443 | GNPAT | 2.114 | DISEASES 3077 | HFE | 6.182 | DISEASES 148738 | HFE2 | 2.615 | DISEASES 3105 | HLA-A | 1.445 | DISEASES 3240 | HP | 2.136 | DISEASES 338376 | IFNE | 2.341 | DISEASES 4734 | NEDD4 | 1.394 | DISEASES 23327 | NEDD4L | 1.445 | DISEASES 4948 | OCA2 | 1.146 | DISEASES 5091 | PC | 1.307 | DISEASES 5178 | PEG3 | 1.804 | DISEASES 5321 | PLA2G4A | 1.329 | DISEASES 5498 | PPOX | 5.29 | DISEASES 6014 | RIT2 | 2.074 | DISEASES 866 | SERPINA6 | 1.169 | DISEASES 6999 | TDO2 | 2.525 | DISEASES 54790 | TET2 | 1.874 | DISEASES 7018 | TF | 3.919 | DISEASES 7037 | TFRC | 1.531 | DISEASES 7360 | UGP2 | 2.259 | DISEASES 7390 | UROS | 6.207 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 130 |
|---|---|
| Disease | porphyria cutanea tarda |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:38) C2364133 | infection C2186532 | liver disease C1963148 | iron overload C1527358 | phototoxicity C1512411 | hepatocellular carcinoma C1421374 | uroporphyrinogen decarboxylase deficiency C0948120 | hepatic siderosis C0877372 | hepatosis C0524910 | chronic hepatitis c C0494165 | liver metastases C0341439 | chronic liver disease C0238124 | necrotizing fasciitis C0235031 | neurological symptoms C0220847 | hepatitis c C0162830 | phototoxic reaction C0149722 | lentigo maligna C0042769 | virus infection C0042769 | viral infection C0037285 | skin manifestations C0037284 | skin lesions C0037140 | b virus infection C0036416 | scleritis C0034150 | purpura C0030920 | peptic ulcer C0027765 | neurological disorder C0026764 | multiple myeloma C0025517 | metabolic disorders C0024141 | systemic lupus erythematosus C0023903 | hepatoma C0023895 | hepatopathy C0023895 | hepatic pathology C0022661 | end-stage renal disease C0020555 | hypertrichosis C0019196 | viral hepatitis c C0015411 | eye manifestations C0013312 | dupuytren's contracture C0006664 | calcinosis cutis C0003969 | ascorbic acid deficiency |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:12) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs116233118 | 11069625 | 7389 | UROD | umls:C0162566 | UNIPROT | Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda. | 0.587022092 | 2000 | UROD | 1 | 45015346 | G | A |
| rs121918057 | NA | 7389 | UROD | umls:C0162566 | CLINVAR | NA | 0.587022092 | NA | UROD | 1 | 45014803 | G | A,T |
| rs121918066 | 9792863 | 7389 | UROD | umls:C0162566 | UNIPROT | Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. | 0.587022092 | 1998 | UROD | 1 | 45015389 | G | A |
| rs1799945 | 17298224 | 7036 | TFR2 | umls:C0162566 | BeFree | By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies of the less frequently observed sequence deviations as substitution S65C in the HFE gene and mutation Y250X in the TFR2 gene underlying hemochromatosis type 3 (HFE3) were < 0.02 both in PCT patients and controls. | 0.005005506 | 2006 | HFE | 6 | 26090951 | C | G |
| rs1799945 | 9425935 | 3077 | HFE | umls:C0162566 | BeFree | High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. | 0.301114281 | 1998 | HFE | 6 | 26090951 | C | G |
| rs1800562 | 17062032 | 3077 | HFE | umls:C0162566 | BeFree | The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection. | 0.301114281 | 2006 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 18189029 | 3077 | HFE | umls:C0162566 | BeFree | Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis: a case report and review of the literature. | 0.301114281 | 2007 | HFE | 6 | 26092913 | G | A |
| rs1800730 | 17298224 | 7036 | TFR2 | umls:C0162566 | BeFree | By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies of the less frequently observed sequence deviations as substitution S65C in the HFE gene and mutation Y250X in the TFR2 gene underlying hemochromatosis type 3 (HFE3) were < 0.02 both in PCT patients and controls. | 0.005005506 | 2006 | HFE | 6 | 26090957 | A | T |
| rs36033115 | 8896428 | 7389 | UROD | umls:C0162566 | UNIPROT | These results indicate that many different genetic lesions of the UROD gene are associated with fPCT. | 0.587022092 | 1996 | UROD | 1 | 45014560 | T | A |
| rs397514764 | NA | 7389 | UROD | umls:C0162566 | CLINVAR | NA | 0.587022092 | NA | UROD;HECTD3 | 1 | 45012271 | AGCGAATGGG | - |
| rs397514765 | NA | 7389 | UROD | umls:C0162566 | CLINVAR | NA | 0.587022092 | NA | UROD | 1 | 45013663 | C | T |
| rs80338880 | 17298224 | 7036 | TFR2 | umls:C0162566 | BeFree | By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies of the less frequently observed sequence deviations as substitution S65C in the HFE gene and mutation Y250X in the TFR2 gene underlying hemochromatosis type 3 (HFE3) were < 0.02 both in PCT patients and controls. | 0.005005506 | 2006 | TFR2;LOC105375428 | 7 | 100633100 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000963 | Thin skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0000987 | Atypical scarring of skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0008066 | Abnormal blistering of the skin | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0000992 | Cutaneous photosensitivity | MP:0001202 | skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| HP:0001402 | Hepatocellular carcinoma | MP:0010367 | increased spindle cell carcinoma incidence | greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle s |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0000953 | Hyperpigmentation of the skin | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001645 | Sudden cardiac death | MP:0012557 | decreased calcium uptake by cardiac muscle | decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease |
Mapped by homologous gene(Total Items:16) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001394 | Cirrhosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001053 | Hypopigmented skin patches | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000987 | Atypical scarring of skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100021 | Cerebral palsy | MP:0013026 | decreased Ly6C low monocyte number | decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes |
| HP:0001397 | Hepatic steatosis | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0000953 | Hyperpigmentation of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001645 | Sudden cardiac death | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008066 | Abnormal blistering of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001402 | Hepatocellular carcinoma | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0200037 | Skin vesicle | MP:0011094 | embryonic lethality before implantation, complete penetrance | death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 130 |
|---|---|
| Disease | porphyria cutanea tarda |
| Case | (Waiting for update.) |