PedAM

Pediatric Disease Annotations & Medicines


	porphyria

Disease ID	149
Disease	porphyria
Definition	group of disorders characterized by the excessive production of porphyrins or their precursors that arises from abnormalities in the regulation of the porphyrin-heme pathway; acquired porphyrias, which are due to inhibition of enzymes in the metabolic pathway by a drug, toxin or abnormal metabolite, are more common than those which are inherited.
Synonym	dis porphyrin metabolism disorder of porphyrin and haem metabolism disorder of porphyrin and hem metabolism disorder of porphyrin and heme metabolism disorder of porphyrin and heme metabolism (disorder) disorder of porphyrin metabolism disorder of porphyrin metabolism (disorder) disorder of porphyrin metabolism, nos disorder, porphyrin disorders of porphyrin metabolism disorders of porphyrin metabolism (disorder) disorders, porphyrin hematoporphyria porphyria (disorder) porphyria nos porphyria nos (disorder) porphyria, nos porphyrias porphyrias [disease/finding] porphyrin disorder porphyrin disorders porphyrinopathies porphyrinopathy porphyrinopathy (disorder) porphyrinopathy, nos
Orphanet	ORPHANET:738 ORPHANET:309813
DOID	DOID:13268
UMLS	C0032708
MeSH	D011164
SNOMED-CT	SNOMEDCT_US_2016_09_01:29094004;SNOMEDCT_US_2016_09_01:418470004;SNOMEDCT_US_2016_09_01:371628009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:30) C0162565 \| acute intermittent porphyria \| 12 C0026769 \| multiple sclerosis \| 2 C0031048 \| constrictive pericarditis \| 2 C0022658 \| renal disease \| 2 C1527336 \| sjogren's syndrome \| 1 C0002871 \| anaemia \| 1 C0022661 \| end-stage renal disease \| 1 C0019158 \| hepatitis \| 1 C0155320 \| cortical blindness \| 1 C0409974 \| lupus erythematosus \| 1 C0002878 \| hemolytic anemia \| 1 C0022661 \| chronic renal failure \| 1 C1621895 \| adrenal hyperplasia \| 1 C0018995 \| hemochromatosis \| 1 C1145670 \| respiratory failure \| 1 C0162568 \| erythropoietic protoporphyria \| 1 C0030286 \| pancreatic disease \| 1 C0456909 \| blindness \| 1 C0001627 \| congenital adrenal hyperplasia \| 1 C0442874 \| neuropathy \| 1 C0030286 \| pancreatic diseases \| 1 C0022658 \| kidney disease \| 1 C0014742 \| erythema multiforme \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0023903 \| liver cancer \| 1 C0030805 \| pemphigoid \| 1 C0002878 \| haemolytic anaemia \| 1 C0002871 \| anemia \| 1 C0162568 \| protoporphyria \| 1 C0023895 \| hepatic disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) HFE \| 3077 \| GHR CPOX \| 1371 \| GHR ALAS2 \| 212 \| GHR UROD \| 7389 \| GHR UROS \| 7390 \| GHR PPOX \| 5498 \| GHR HMBS \| 3145 \| GHR FECH \| 2235 \| GHR ALAD \| 210 \| GHR ALAS1 \| 211 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 1544 \| CYP1A2 \| infer 3077 \| HFE \| infer 3145 \| HMBS \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:115) 27102 \| EIF2AK1 \| DISEASES 6820 \| SULT2B1 \| DISEASES 8646 \| CHRD \| DISEASES 3162 \| HMOX1 \| DISEASES 1666 \| DECR1 \| DISEASES 973 \| CD79A \| DISEASES 57817 \| HAMP \| DISEASES 7036 \| TFR2 \| DISEASES 5624 \| PROC \| DISEASES 80306 \| MED28 \| DISEASES 9429 \| ABCG2 \| DISEASES 7389 \| UROD \| DISEASES 92797 \| HELB \| DISEASES 7263 \| TST \| DISEASES 2056 \| EPO \| DISEASES 1571 \| CYP2E1 \| DISEASES 22 \| ABCB7 \| DISEASES 325 \| APCS \| DISEASES 4677 \| NARS \| DISEASES 3658 \| IREB2 \| DISEASES 9360 \| PPIG \| DISEASES 30061 \| SLC40A1 \| DISEASES 1659 \| DHX8 \| DISEASES 10075 \| HUWE1 \| DISEASES 5317 \| PKP1 \| DISEASES 8942 \| KYNU \| DISEASES 1371 \| CPOX \| DISEASES 1356 \| CP \| DISEASES 5443 \| POMC \| DISEASES 5244 \| ABCB4 \| DISEASES 3263 \| HPX \| DISEASES 23598 \| PATZ1 \| DISEASES 57697 \| FANCM \| DISEASES 100820829 \| MYZAP \| DISEASES 56006 \| SMG9 \| DISEASES 79017 \| GGCT \| DISEASES 3439 \| IFNA1 \| DISEASES 3145 \| HMBS \| DISEASES 6695 \| SPOCK1 \| DISEASES 3087 \| HHEX \| DISEASES 539 \| ATP5O \| DISEASES 8566 \| PDXK \| DISEASES 27306 \| HPGDS \| DISEASES 213 \| ALB \| DISEASES 58157 \| NGB \| DISEASES 5092 \| PCBD1 \| DISEASES 1548 \| CYP2A6 \| DISEASES 1549 \| CYP2A7 \| DISEASES 29 \| ABR \| DISEASES 285335 \| SLC9C1 \| DISEASES 211 \| ALAS1 \| DISEASES 83985 \| SPNS1 \| DISEASES 9420 \| CYP7B1 \| DISEASES 641371 \| ACOT1 \| DISEASES 4778 \| NFE2 \| DISEASES 79901 \| CYBRD1 \| DISEASES 6014 \| RIT2 \| DISEASES 10194 \| TSHZ1 \| DISEASES 1555 \| CYP2B6 \| DISEASES 5178 \| PEG3 \| DISEASES 4094 \| MAF \| DISEASES 6906 \| SERPINA7 \| DISEASES 212 \| ALAS2 \| DISEASES 1553 \| CYP2A13 \| DISEASES 148738 \| HFE2 \| DISEASES 1576 \| CYP3A4 \| DISEASES 51337 \| THEM6 \| DISEASES 7360 \| UGP2 \| DISEASES 5313 \| PKLR \| DISEASES 54681 \| P4HTM \| DISEASES 1544 \| CYP1A2 \| DISEASES 5498 \| PPOX \| DISEASES 641 \| BLM \| DISEASES 5265 \| SERPINA1 \| DISEASES 3240 \| HP \| DISEASES 51643 \| TMBIM4 \| DISEASES 7037 \| TFRC \| DISEASES 1504 \| CTRB1 \| DISEASES 257202 \| GPX6 \| DISEASES 23038 \| WDTC1 \| DISEASES 8443 \| GNPAT \| DISEASES 23456 \| ABCB10 \| DISEASES 7390 \| UROS \| DISEASES 537 \| ATP6AP1 \| DISEASES 6342 \| SCP2 \| DISEASES 80324 \| PUS1 \| DISEASES 2623 \| GATA1 \| DISEASES 3105 \| HLA-A \| DISEASES 631 \| BFSP1 \| DISEASES 8803 \| SUCLA2 \| DISEASES 23408 \| SIRT5 \| DISEASES 387755 \| INSC \| DISEASES 54790 \| TET2 \| DISEASES 551 \| AVP \| DISEASES 5272 \| SERPINB9 \| DISEASES 23410 \| SIRT3 \| DISEASES 2235 \| FECH \| DISEASES 5091 \| PC \| DISEASES 174 \| AFP \| DISEASES 23426 \| GRIP1 \| DISEASES 8131 \| NPRL3 \| DISEASES 7018 \| TF \| DISEASES 210 \| ALAD \| DISEASES 2880 \| GPX5 \| DISEASES 6565 \| SLC15A2 \| DISEASES 3077 \| HFE \| DISEASES 338376 \| IFNE \| DISEASES 5447 \| POR \| DISEASES 51312 \| SLC25A37 \| DISEASES 55656 \| INTS8 \| DISEASES 84000 \| TMPRSS13 \| DISEASES 6999 \| TDO2 \| DISEASES 4157 \| MC1R \| DISEASES 57119 \| EPPIN \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	(Waiting for update.)

Disease ID	149
Disease	porphyria
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:23) HP:0100021 \| Cerebral palsy HP:0001000 \| Abnormality of skin pigmentation HP:0000738 \| Hallucinations HP:0001324 \| Muscle weakness HP:0002019 \| Constipation HP:0000708 \| Behavioral abnormality HP:0002014 \| Diarrhea HP:0000992 \| Cutaneous photosensitivity HP:0001945 \| Fever HP:0012086 \| Abnormal urinary color HP:0000822 \| Hypertension HP:0001250 \| Seizures HP:0008066 \| Abnormal blistering of the skin HP:0010472 \| Abnormality of the heme biosynthetic pathway HP:0005679 \| Dupuytren contracture HP:0100749 \| Chest pain HP:0000989 \| Pruritus HP:0012378 \| Fatigue HP:0002017 \| Nausea and vomiting HP:0002360 \| Sleep disturbance HP:0002039 \| Anorexia HP:0003401 \| Paresthesia HP:0002027 \| Abdominal pain
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:31) HP:0003470 \| Inability to move \| 3 HP:0008066 \| Skin bullae \| 3 HP:0001878 \| Haemolytic anaemia \| 2 HP:0002563 \| Constrictive pericarditis \| 2 HP:0001250 \| Seizures \| 2 HP:0001903 \| Anemia \| 2 HP:0003774 \| End-stage renal failure \| 2 HP:0002308 \| Chiari malformation \| 1 HP:0002203 \| Respiratory paralysis \| 1 HP:0030756 \| Erythrodontia \| 1 HP:0100704 \| Cortical visual impairment \| 1 HP:0012531 \| Pain \| 1 HP:0010783 \| Erythema \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0000533 \| Chorioretinal atrophy \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0100324 \| Progressive systemic scleroderma \| 1 HP:0001105 \| Retinal atrophy \| 1 HP:0005224 \| Rectal abscess \| 1 HP:0008221 \| Enlarged adrenal glands \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0001397 \| Hepatic steatosis \| 1 HP:0200123 \| Chronic liver inflammation \| 1 HP:0008258 \| Congenital adrenal hyperplasia \| 1 HP:0000618 \| Blindness \| 1 HP:0002896 \| Liver cancer \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0002902 \| Hyponatremia \| 1 HP:0000750 \| Late-onset speech development \| 1 HP:0001030 \| Fragile skin \| 1

Disease ID	149
Disease	porphyria
Manually Symptom	UMLS \| Name(Total Manually Symptoms:25) C1963195 \| skin pain C1963138 \| hypertension C1963101 \| encephalopathy C1565489 \| renal insufficiency C1288283 \| anetoderma C0752303 \| urological manifestations C0740577 \| acute abdominal pain C0442874 \| neuropathy C0235031 \| neurological symptoms C0162830 \| phototoxic reaction C0149622 \| atonic neurogenic bladder C0042900 \| vitiligo C0042769 \| virus infection C0037284 \| skin lesions C0036572 \| seizures C0036205 \| pulmonary sarcoidosis C0029166 \| oral manifestations C0027765 \| neurological disorders C0020625 \| hyponatremia C0018378 \| landry paralysis C0015411 \| eye manifestations C0014544 \| epilepsy C0007398 \| catatonia C0007286 \| carpal tunnel syndrome C0000727 \| acute abdomen
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0036572 \| seizures \| 1 C0442874 \| neuropathy \| 1 C0020625 \| hyponatremia \| 1 C0085584 \| encephalopathy \| 1

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

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121918057	3775362	7389	UROD	umls:C0032708	BeFree	Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.	0.007610304	1986	UROD	1	45014803	G	A,T
rs121918324	15660919	5498	PPOX	umls:C0032708	BeFree	Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.	0.001357209	2005	PPOX	1	161167187	C	T
rs369855221	18406650	3145	HMBS	umls:C0032708	BeFree	In this study, we report two novel missense sequence variations in the HMBS gene, T59I (C176T) and V215M (G643A), in two patients with clinical symptoms compatible with acute attacks of porphyria.	0.009444384	2008	HMBS	11	119092797	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

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

Chemical(Total Drugs:4)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0032708	carisoprodol	D002328	78-44-4	porphyrias	MESH:D011164	marker/mechanism	7915729
C0032708	fluorouracil	D005472	51-21-8	porphyrias	MESH:D011164	marker/mechanism	1359863
C0032708	gabapentin	C040029	60142-96-3	porphyrias	MESH:D011164	therapeutic	20714961
C0032708	propranolol	D011433	525-66-6	porphyrias	MESH:D011164	therapeutic	514931

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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