PedAM

Pediatric Disease Annotations & Medicines


	porphyria cutanea tarda

Disease ID	47
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	ORPHANET:101330
OMIM	OMIM:176100
DOID	DOID:3132
ICD10	ICD10CM:E80.1
UMLS	C0162566
MeSH	D017119
SNOMED-CT	SNOMEDCT_US_2016_09_01:61860000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:14) C0026769 \| multiple sclerosis \| 1 C0022661 \| chronic renal failure \| 1 C0018995 \| hemochromatosis \| 1 C0023903 \| liver cancer \| 1 C1621895 \| adrenal hyperplasia \| 1 C1527336 \| sjogren's syndrome \| 1 C0409974 \| lupus erythematosus \| 1 C0033860 \| psoriasis \| 1 C0001627 \| congenital adrenal hyperplasia \| 1 C0020456 \| hyperglycemia \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0021053 \| immune disease \| 1 C0019158 \| hepatitis \| 1 C0031048 \| constrictive pericarditis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) HFE \| 3077 \| CTD_human;ORPHANET CPOX \| 1371 \| CTD_human UROD \| 7389 \| CLINVAR;CTD_human;ORPHANET;UNIPROT CYP1A2 \| 1544 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 1544 \| CYP1A2 \| infer 3077 \| HFE \| infer 7036 \| TFR2 \| infer 7037 \| TFRC \| infer 7389 \| UROD \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:63) 973 \| CD79A \| DISEASES 57817 \| HAMP \| DISEASES 7036 \| TFR2 \| DISEASES 727 \| C5 \| DISEASES 8288 \| EPX \| DISEASES 7448 \| VTN \| DISEASES 5624 \| PROC \| DISEASES 80306 \| MED28 \| DISEASES 7389 \| UROD \| DISEASES 7263 \| TST \| DISEASES 1571 \| CYP2E1 \| DISEASES 29969 \| MDFIC \| DISEASES 9360 \| PPIG \| DISEASES 30061 \| SLC40A1 \| DISEASES 10558 \| SPTLC1 \| DISEASES 975 \| CD81 \| DISEASES 8942 \| KYNU \| DISEASES 1371 \| CPOX \| DISEASES 1356 \| CP \| DISEASES 3263 \| HPX \| DISEASES 3439 \| IFNA1 \| DISEASES 3145 \| HMBS \| DISEASES 539 \| ATP5O \| DISEASES 27306 \| HPGDS \| DISEASES 213 \| ALB \| DISEASES 5092 \| PCBD1 \| DISEASES 6036 \| RNASE2 \| DISEASES 79901 \| CYBRD1 \| DISEASES 6014 \| RIT2 \| DISEASES 1555 \| CYP2B6 \| DISEASES 5178 \| PEG3 \| DISEASES 212 \| ALAS2 \| DISEASES 148738 \| HFE2 \| DISEASES 1576 \| CYP3A4 \| DISEASES 7360 \| UGP2 \| DISEASES 1544 \| CYP1A2 \| DISEASES 866 \| SERPINA6 \| DISEASES 5498 \| PPOX \| DISEASES 4734 \| NEDD4 \| DISEASES 4948 \| OCA2 \| DISEASES 3240 \| HP \| DISEASES 7037 \| TFRC \| DISEASES 8443 \| GNPAT \| DISEASES 58 \| ACTA1 \| DISEASES 5321 \| PLA2G4A \| DISEASES 7390 \| UROS \| DISEASES 959 \| CD40LG \| DISEASES 3105 \| HLA-A \| DISEASES 10257 \| ABCC4 \| DISEASES 1543 \| CYP1A1 \| DISEASES 54790 \| TET2 \| DISEASES 1646 \| AKR1C2 \| DISEASES 1645 \| AKR1C1 \| DISEASES 2235 \| FECH \| DISEASES 5091 \| PC \| DISEASES 174 \| AFP \| DISEASES 23327 \| NEDD4L \| DISEASES 7018 \| TF \| DISEASES 210 \| ALAD \| DISEASES 3077 \| HFE \| DISEASES 338376 \| IFNE \| DISEASES 846 \| CASR \| DISEASES 6999 \| TDO2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	47
Disease	porphyria cutanea tarda
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:16) HP:0100021 \| Cerebral palsy HP:0001645 \| Sudden cardiac death HP:0200037 \| Skin vesicle HP:0001053 \| Hypopigmented skin patches HP:0002230 \| Generalized hirsutism HP:0001394 \| Cirrhosis HP:0000953 \| Hyperpigmentation of the skin HP:0000988 \| Skin rash HP:0001397 \| Hepatic steatosis HP:0010783 \| Erythema HP:0000969 \| Edema HP:0000963 \| Thin skin HP:0008066 \| Abnormal blistering of the skin HP:0000992 \| Cutaneous photosensitivity HP:0001402 \| Hepatocellular carcinoma HP:0000987 \| Atypical scarring of skin
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0008066 \| Skin bullae \| 1 HP:0001397 \| Hepatic steatosis \| 1 HP:0003074 \| High blood glucose \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0008221 \| Enlarged adrenal glands \| 1 HP:0008258 \| Congenital adrenal hyperplasia \| 1 HP:0000533 \| Chorioretinal atrophy \| 1 HP:0001105 \| Retinal atrophy \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0200123 \| Chronic liver inflammation \| 1 HP:0100324 \| Progressive systemic scleroderma \| 1 HP:0002563 \| Constrictive pericarditis \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0002896 \| Liver cancer \| 1 HP:0003765 \| Psoriasis \| 1

Disease ID	47
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) C0009450 \| infection \| 2 C0024141 \| systemic lupus erythematosus \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(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)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:9)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0162566	carbamazepine	D002220	298-46-4	porphyria cutanea tarda	MESH:D017119	marker/mechanism	8610843
C0162566	colchicine	D003078	64-86-8	porphyria cutanea tarda	MESH:D017119	marker/mechanism	4105790
C0162566	cyclophosphamide	D003520	50-18-0	porphyria cutanea tarda	MESH:D017119	marker/mechanism	3410226
C0162566	cisplatin	D002945	15663-27-1	porphyria cutanea tarda	MESH:D017119	marker/mechanism	3410226
C0162566	diethylstilbestrol	D004054	56-53-1	porphyria cutanea tarda	MESH:D017119	marker/mechanism	11851245
C0162566	methotrexate	D008727	1959/5/2	porphyria cutanea tarda	MESH:D017119	marker/mechanism	6682603
C0162566	phenytoin	D010672	57-41-0	porphyria cutanea tarda	MESH:D017119	therapeutic	11586030
C0162566	pravastatin	D017035	81093-37-0	porphyria cutanea tarda	MESH:D017119	marker/mechanism	7631993
C0162566	rifampin	D012293	13292-46-1	porphyria cutanea tarda	MESH:D017119	marker/mechanism	6452153

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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