PedAM

Pediatric Disease Annotations & Medicines


	acute porphyria

Disease ID	650
Disease	acute porphyria
Definition	An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
Synonym	acute intermittent porphyria acute intermittent porphyria (disorder) acute intermittent porphyria (disorder) [ambiguous] acute intermittent porphyrias acute porphyrias aip aip - acute intermittent porphyria intermittent acute porphyria intermittent acute porphyria syndrome intermittent porphyria, acute intermittent porphyrias, acute porphyria acute porphyria acute intermittent porphyria intermittent acute porphyria, acute porphyria, acute intermittent porphyria, acute intermittent [disease/finding] porphyrias, acute porphyrias, acute intermittent pyrroloporphyria swedish porphyria
Orphanet	ORPHANET:79276
OMIM	OMIM:176000 OMIM:609183
DOID	DOID:3890 DOID:3133 DOID:2800
UMLS	C0162565
MeSH	D017118
SNOMED-CT	SNOMEDCT_US_2016_09_01:234422006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0162565 \| acute intermittent porphyria \| 2 C0497327 \| dementia \| 1 C0026769 \| multiple sclerosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) HMBS \| 3145 \| CLINVAR;CTD_human;ORPHANET;UNIPROT AURKAIP1 \| 54998 \| OMIM
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3145 \| HMBS \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:160) 27102 \| EIF2AK1 \| DISEASES 6820 \| SULT2B1 \| DISEASES 8646 \| CHRD \| DISEASES 3956 \| LGALS1 \| 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 7389 \| UROD \| DISEASES 92797 \| HELB \| DISEASES 7263 \| TST \| DISEASES 2056 \| EPO \| DISEASES 1571 \| CYP2E1 \| DISEASES 22 \| ABCB7 \| DISEASES 4677 \| NARS \| DISEASES 2012 \| EMP1 \| DISEASES 3658 \| IREB2 \| DISEASES 9360 \| PPIG \| DISEASES 30061 \| SLC40A1 \| DISEASES 1659 \| DHX8 \| DISEASES 10558 \| SPTLC1 \| DISEASES 10075 \| HUWE1 \| DISEASES 10075 \| HUWE1 \| DISEASES 5317 \| PKP1 \| DISEASES 8942 \| KYNU \| DISEASES 1371 \| CPOX \| DISEASES 1371 \| CPOX \| DISEASES 1356 \| CP \| DISEASES 5443 \| POMC \| DISEASES 5244 \| ABCB4 \| DISEASES 3263 \| HPX \| DISEASES 3263 \| HPX \| DISEASES 23598 \| PATZ1 \| DISEASES 57697 \| FANCM \| DISEASES 100820829 \| MYZAP \| DISEASES 3073 \| HEXA \| DISEASES 56006 \| SMG9 \| DISEASES 56006 \| SMG9 \| DISEASES 2495 \| FTH1 \| DISEASES 79017 \| GGCT \| DISEASES 79017 \| GGCT \| DISEASES 3439 \| IFNA1 \| DISEASES 4863 \| NPAT \| DISEASES 3145 \| HMBS \| 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 58157 \| NGB \| DISEASES 5267 \| SERPINA4 \| DISEASES 5092 \| PCBD1 \| DISEASES 5092 \| PCBD1 \| DISEASES 1548 \| CYP2A6 \| DISEASES 1549 \| CYP2A7 \| DISEASES 5729 \| PTGDR \| DISEASES 29 \| ABR \| DISEASES 285335 \| SLC9C1 \| DISEASES 285335 \| SLC9C1 \| DISEASES 211 \| ALAS1 \| DISEASES 211 \| ALAS1 \| DISEASES 83985 \| SPNS1 \| DISEASES 83985 \| SPNS1 \| DISEASES 9420 \| CYP7B1 \| DISEASES 641371 \| ACOT1 \| DISEASES 4778 \| NFE2 \| DISEASES 4778 \| NFE2 \| DISEASES 767 \| CA8 \| DISEASES 79901 \| CYBRD1 \| DISEASES 10611 \| PDLIM5 \| DISEASES 6014 \| RIT2 \| DISEASES 10194 \| TSHZ1 \| DISEASES 10194 \| TSHZ1 \| DISEASES 1555 \| CYP2B6 \| DISEASES 5178 \| PEG3 \| DISEASES 4094 \| MAF \| DISEASES 6906 \| SERPINA7 \| DISEASES 6906 \| SERPINA7 \| DISEASES 212 \| ALAS2 \| DISEASES 212 \| ALAS2 \| DISEASES 1553 \| CYP2A13 \| DISEASES 148738 \| HFE2 \| DISEASES 1576 \| CYP3A4 \| DISEASES 51337 \| THEM6 \| DISEASES 51337 \| THEM6 \| DISEASES 7360 \| UGP2 \| DISEASES 5313 \| PKLR \| DISEASES 7225 \| TRPC6 \| DISEASES 54681 \| P4HTM \| DISEASES 1544 \| CYP1A2 \| DISEASES 5498 \| PPOX \| DISEASES 5498 \| PPOX \| DISEASES 1798 \| DPAGT1 \| DISEASES 641 \| BLM \| DISEASES 3240 \| HP \| DISEASES 26136 \| TES \| DISEASES 51643 \| TMBIM4 \| DISEASES 7037 \| TFRC \| DISEASES 1504 \| CTRB1 \| DISEASES 257202 \| GPX6 \| DISEASES 4540 \| MT-ND5 \| DISEASES 23038 \| WDTC1 \| DISEASES 8443 \| GNPAT \| DISEASES 23456 \| ABCB10 \| DISEASES 7390 \| UROS \| DISEASES 7390 \| UROS \| DISEASES 537 \| ATP6AP1 \| DISEASES 537 \| ATP6AP1 \| DISEASES 1369 \| CPN1 \| DISEASES 80324 \| PUS1 \| DISEASES 3105 \| HLA-A \| DISEASES 631 \| BFSP1 \| DISEASES 3980 \| LIG3 \| DISEASES 8803 \| SUCLA2 \| DISEASES 23408 \| SIRT5 \| DISEASES 23408 \| SIRT5 \| DISEASES 387755 \| INSC \| DISEASES 387755 \| INSC \| DISEASES 1543 \| CYP1A1 \| DISEASES 54790 \| TET2 \| DISEASES 551 \| AVP \| DISEASES 551 \| AVP \| DISEASES 3030 \| HADHA \| DISEASES 5272 \| SERPINB9 \| DISEASES 23410 \| SIRT3 \| DISEASES 2235 \| FECH \| DISEASES 2235 \| FECH \| DISEASES 5091 \| PC \| DISEASES 23426 \| GRIP1 \| DISEASES 8131 \| NPRL3 \| DISEASES 7018 \| TF \| DISEASES 210 \| ALAD \| DISEASES 210 \| ALAD \| DISEASES 2880 \| GPX5 \| DISEASES 6565 \| SLC15A2 \| DISEASES 6565 \| SLC15A2 \| DISEASES 3077 \| HFE \| DISEASES 3077 \| HFE \| DISEASES 338376 \| IFNE \| DISEASES 5447 \| POR \| DISEASES 7019 \| TFAM \| DISEASES 51312 \| SLC25A37 \| DISEASES 55656 \| INTS8 \| DISEASES 55656 \| INTS8 \| DISEASES 84000 \| TMPRSS13 \| DISEASES 84000 \| TMPRSS13 \| DISEASES 6999 \| TDO2 \| DISEASES 6999 \| TDO2 \| DISEASES 4157 \| MC1R \| DISEASES 57119 \| EPPIN \| DISEASES 102723508 \| KANTR \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	(Waiting for update.)

Disease ID	650
Disease	acute porphyria
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0000726 \| Dementia \| 1 HP:0001250 \| Seizures \| 1 HP:0002308 \| Chiari malformation \| 1

Disease ID	650
Disease	acute porphyria
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:32)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs118204094	19656453	3145	HMBS	umls:C0162565	BeFree	Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands.	0.632518213	2009	HMBS	11	119089991	C	T
rs118204094	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119089991	C	T
rs118204095	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119091414	G	A,T
rs118204096	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119091432	G	A
rs118204097	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119090230	C	T
rs118204098	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119090213	G	A
rs118204099	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119092486	T	G
rs118204100	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119091507	G	A
rs118204100	11202057	3145	HMBS	umls:C0162565	BeFree	The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.	0.632518213	2000	HMBS	11	119091507	G	A
rs118204101	11202057	3145	HMBS	umls:C0162565	BeFree	The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.	0.632518213	2000	HMBS	11	119091413	C	T
rs118204101	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119091413	C	T
rs118204103	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119088298	G	A
rs118204104	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119088638	G	A
rs118204105	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119088647	C	A
rs118204106	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119089084	G	T
rs118204107	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119089747	G	A
rs118204107	10494093	3145	HMBS	umls:C0162565	BeFree	Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.	0.632518213	1999	HMBS	11	119089747	G	A
rs118204108	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119091444	T	G
rs118204109	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119091515	C	T
rs118204110	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119092419	G	A
rs118204111	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119092491	T	C
rs118204112	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119092500	G	A
rs118204113	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119092506	G	A
rs118204114	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119092507	C	T
rs118204115	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119092518	C	A
rs118204116	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119092159	G	A
rs118204117	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119092958	G	A
rs118204117	10782018	3145	HMBS	umls:C0162565	BeFree	Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.	0.632518213	2000	HMBS	11	119092958	G	A
rs118204119	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119089248	T	C
rs118204120	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119090212	C	T
rs34413634	NA	3145	HMBS	umls:C0162565	CLINVAR	NA	0.632518213	NA	HMBS	11	119091497	C	T
rs34413634	16211556	3145	HMBS	umls:C0162565	UNIPROT	Direct sequencing of genomic DNA samples of 11 unrelated Russian AIP patients, 32 of their relatives and 50 healthy controls from northwestern Russia including Saint Petersburg revealed nine mutations in the HMBS gene.	0.632518213	2005	HMBS	11	119091497	C	T

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:6)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0162565	amlodipine	D017311	88150-42-9	porphyria, acute intermittent	MESH:D017118	marker/mechanism	9034433
C0162565	carbamazepine	D002220	298-46-4	porphyria, acute intermittent	MESH:D017118	marker/mechanism	1733741
C0162565	chloroquine	D002738	1954/5/7	porphyria, acute intermittent	MESH:D017118	marker/mechanism	8772850
C0162565	desogestrel	D017135	54024-22-5	porphyria, acute intermittent	MESH:D017118	marker/mechanism	16871841
C0162565	phenytoin	D010672	57-41-0	porphyria, acute intermittent	MESH:D017118	marker/mechanism	1733741
C0162565	valproic acid	D014635	99-66-1	porphyria, acute intermittent	MESH:D017118	marker/mechanism	1733741

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

FDA labeling changes(Total Drugs:0)
(Waiting for update.)