MCID: ACT078
MIFTS: 46

Acute Porphyria malady

Genetic diseases, Metabolic diseases, Rare diseases, Blood diseases, Liver diseases categories

Aliases & Classifications for Acute Porphyria

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Aliases & Descriptions for Acute Porphyria:

Name: Acute Porphyria 10
Porphyrias, Hepatic 65 36
 
Acute Intermittent Porphyria 65
Hepatic Porphyria 10


Classifications:



External Ids:

Disease Ontology10 DOID:3133
SNOMED-CT59 55056006
MeSH36 D017094

Summaries for Acute Porphyria

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Disease Ontology:10 A porphyria that has symptom abdominal pain, has symptom neuropathy, has symptom autonomic instability and has symptom psychosis.

MalaCards based summary: Acute Porphyria, also known as porphyrias, hepatic, is related to porphyria, congenital erythropoietic and porphyria cutanea tarda, and has symptoms including abdominal pain, neuropathy and autonomic instability. An important gene associated with Acute Porphyria is HMBS (Hydroxymethylbilane Synthase), and among its related pathways are Nuclear receptors in lipid metabolism and toxicity and Drug Induction of Bile Acid Pathway. The drugs chlorpromazine and chlorpromazine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and testes, and related mouse phenotypes are liver/biliary system and mortality/aging.

Related Diseases for Acute Porphyria

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Diseases in the Porphyria family:

acute porphyria Congenital Porphyria
Urod-Related Porphyrias

Diseases related to Acute Porphyria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria, congenital erythropoietic29.5CPOX, FECH, HMBS, UROD, UROS
2porphyria cutanea tarda29.2CPOX, FECH, HMBS, PPOX, UROD, UROS
3porphyria, acute intermittent29.2ALAS1, CPOX, FECH, HMBS, PPOX, UROD
4porphyria variegata28.8CPOX, FECH, HMBS, PPOX, UROD, UROS
5coproporphyria28.7ALAS1, CPOX, FECH, HMBS, PPOX, UROD
6porphyria11.2
7neuropathy10.3
8chester porphyria10.3
9anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.3
10skin conditions10.3
11skin disease10.3
12cutaneous porphyria10.3
13peripheral neuropathy10.3
14congenital porphyria10.3
15focal epilepsy10.2
16hepatitis10.2
17hepatocellular carcinoma10.1
18breast cancer10.1
19hepatitis c virus10.1
20status epilepticus10.1
21hepatitis c10.1
22typhoidal tularemia10.1
23plasma protein metabolism disease10.1
24tularemia10.1
25myocardial infarction10.0
26photoparoxysmal response 110.0
27galactosemia10.0
28porphyria, acute hepatic10.0
29protoporphyria, erythropoietic, autosomal recessive10.0
30acute myocardial infarction10.0
31atherosclerosis10.0
32liver disease10.0
33cerebral atherosclerosis10.0
34cerebritis10.0
35pain disorder10.0
36brucellosis10.0
37constipation10.0
38hyperthyroidism10.0
39meningitis10.0
40metal metabolism disorder10.0
41myocarditis10.0
42pericarditis10.0
43polyneuropathy10.0
44binswanger's disease10.0
45chiari malformation10.0
46pyridoxine deficiency10.0
47back pain10.0
48encephalopathy10.0
49biliary tract neoplasm10.0NR1I2, NR1I3
50protoporphyria, erythropoietic, x-linked9.8ALAS1, FECH, UROS

Graphical network of the top 20 diseases related to Acute Porphyria:



Diseases related to acute porphyria

Symptoms for Acute Porphyria

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Symptoms:

 10
  • abdominal pain
  • neuropathy
  • autonomic instability
  • psychosis

Drugs & Therapeutics for Acute Porphyria

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Drugs for Acute Porphyria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ColestipolapprovedPhase 2, Phase 3550925-79-662816
Synonyms:
Colestid
Colestipol Hydrochloride
 
Colestipolum
Colestipolum [INN-Latin]
Copolymer of bis(2-aminoethyl)amine and 2-(chloromethyl)oxirane
Epichlorohydrin-tetraethylenepentamine polymer
2
IronapprovedPhase 3, Phase 29577439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Dexiron
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
Ed-In-Sol
 
Eisen
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
3
Deferasiroxapproved, investigationalPhase 3, Phase 283201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
4alpha-MSHPhase 3, Phase 212581-05-5
5cysteineNutraceuticalPhase 3143
6
HydroxychloroquineapprovedPhase 2128118-42-33652
Synonyms:
(+-)-Hydroxychloroquine
(┬▒)-hydroxychloroquine
118-42-3
2-((4-((7-Chloro-4-quinolyl)amino)pentyl)ethylamino)ethanol
2-((4-((7-chloro-4-Quinolyl)amino)pentyl)ethylamino)ethanol
2-(N-(4-(7-Chlor-4-chinolylamino)-4-methylbutyl)ethylamino)ethanol
2-[4-[(7-chloroquinolin-4-yl)amino]pentyl-ethylamino]ethanol
2-[{4-[(7-chloroquinolin-4-yl)amino]pentyl}(ethyl)amino]ethanol
5-22-10-00280 (Beilstein Handbook Reference)
7-Chloro-4-(4-(N-ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline
7-Chloro-4-(4-(ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline
7-Chloro-4-(5-(N-ethyl-N-2-hydroxyethylamino)-2-pentyl)aminoquinoline
7-chloro-4-(4-(Ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline
7-chloro-4-(4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline
7-chloro-4-[4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino]quinoline
7-chloro-4-[5-(N-Ethyl-N-2-hydroxyethylamino)-2-pentyl]aminoquinoline
747-36-4 (sulfate (1:1) salt)
AC1L1GEW
BRN 0253894
C07043
C18H26ClN3O
CHEMBL1535
CID3652
D08050
DB01611
DivK1c_000942
EINECS 204-249-8
Gen-Hydroxychloroquine 200mg Tablets
HCQ
HMS502P04
Hidroxicloroquina
Hidroxicloroquina [INN-Spanish]
Hydroxychlorochin
 
Hydroxychloroguine
Hydroxychloroquine (INN)
Hydroxychloroquine Sulfate
Hydroxychloroquine Sulfate (1:1) Salt
Hydroxychloroquine [INN:BAN]
Hydroxychloroquine sulfate
Hydroxychloroquinum
Hydroxychloroquinum [INN-Latin]
IDI1_000942
Idrossiclorochina
Idrossiclorochina [DCIT]
KBio1_000942
LS-66614
MolPort-003-847-792
NCGC00159483-02
NINDS_000942
NSC4375
Oxichlorochine
Oxichlorochinum
Oxichloroquine
Oxychlorochin
Oxychloroquine
PlaqueN/A
Plaquenil
Polirreumin
Polirreumin (TN)
Quensyl
SPBio_001116
ST072188
Spectrum2_001238
Spectrum5_001697
UNII-4QWG6N8QKH
WIN 1258
hydroxychloroquine
7Tin mesoporphyrinPhase 1, Phase 213
8
TinPhase 1, Phase 2317440-31-5
Synonyms:
CI Pigment metal 5
Haro Mix ZT-514
Innohep
Metallic tin
SN
 
Silver matt powder
Stanum
Tin flake
Tin powder
Tindamax
ZINN
9
Aminolevulinic acidapproved128106-60-5137
Synonyms:
106-60-5
35BEC718-C970-426A-9859-BF58284C60B4
5-ALA
5-Amino-4-oxo-Pentanoate
5-Amino-4-oxo-Pentanoic acid
5-Amino-4-oxopentanoate
5-Amino-4-oxopentanoic acid
5-Amino-4-oxovalerate
5-Amino-4-oxovaleric acid
5-Amino-Levulinate
5-Amino-Levulinic acid
5-Aminolaevulinate
5-Aminolaevulinic acid
5-Aminolevulinate
5-Aminolevulinate hydrochloride
5-Aminolevulinic acid
5-amino-levulinate
5451-09-2
AC-054
AC1L18K9
AKOS003587520
ALA
ALA-PDT
Aladerm
Amino-levulinic acid
Aminolevulinate
Aminolevulinic
Aminolevulinic acid
BIDD:GT0260
BSPBio_003407
C00430
CCRIS 8958
CHEBI:17549
CHEMBL601
CID137
CPD000857229
 
D07567
DALA
DB00855
DivK1c_006954
EINECS 203-414-1
I14-10101
KBio1_001898
KBio2_002062
KBio2_004630
KBio2_007198
KBio3_002627
KBioGR_001176
KBioSS_002062
Kerastick
LMFA01100055
LS-101793
Levulan Kerastick
Levulinic acid, 5-amino- (8CI)
MLS001333097
MLS001333098
MolPort-001-788-423
NCGC00178086-01
Pentanoic acid, 5-amino-4-oxo- (9CI)
SAM002589919
SMR000857229
SPBio_001843
ST50819610
SpecPlus_000858
Spectrum2_001662
Spectrum3_001654
Spectrum4_000618
Spectrum5_001505
Spectrum_001582
UNII-88755TAZ87
delta-ALA
delta-Aminolevulinate
delta-Aminolevulinic acid
delta-aminolevulinic acid

Interventional clinical trials:

(show all 32)
idNameStatusNCT IDPhase
1Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea TardaCompletedNCT00599326Phase 3
2Sorbent Therapy of the Cutaneous PorphyriasCompletedNCT01422915Phase 2, Phase 3
3Phase III Study of L-Cysteine in Patients With Erythropoietic ProtoporphyriaCompletedNCT00004940Phase 3
4Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT00979745Phase 3
5Phase III Confirmatory Study in Erythropoietic ProtoporphyriaActive, not recruitingNCT01605136Phase 3
6Porphozym in the Treatment of Acute Attacks in AIPCompletedNCT00418795Phase 2
7Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT01097044Phase 2
8Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute PorphyriaCompletedNCT00004789Phase 1, Phase 2
9Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute PorphyriasCompletedNCT00004396Phase 2
10Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea TardaRecruitingNCT01573754Phase 2
11Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea TardaRecruitingNCT01284946Phase 2
12Controlled Trial of Panhematin in Treatment of Acute Attacks of PorphyriaRecruitingNCT02180412Phase 2
13Heme Arginate in Cardiac Surgery PatientsNot yet recruitingNCT02142699Phase 2
14Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent PorphyriaCompletedNCT02082860Phase 1
15Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of PorphyriaCompletedNCT00004398Phase 1
16Hemin in Healthy SubjectsCompletedNCT00882804Phase 1
17Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of PorphyriaCompletedNCT00004397Phase 1
18A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP)RecruitingNCT02452372Phase 1
19Risk Factors of Porphyria Cutanea Tarda (PCT)CompletedNCT00213772
20Study of the Pathogenesis of Porphyria Cutanea TardaCompletedNCT00005103
21Observational Study of Acute Intermittent Porphyria PatientsCompletedNCT02076763
22Study of Cysteine Hydrochloride for Erythropoietic ProtoporphyriaCompletedNCT00004831
23Study of Nutritional Factors in PorphyriaCompletedNCT00004788
24Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic AttacksCompletedNCT00004330
25Longitudinal Study of the PorphyriasRecruitingNCT01561157
26Clinical Diagnosis of Acute PorphyriaRecruitingNCT01568554
27Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))RecruitingNCT01880983
28Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial ImpactRecruitingNCT01688895
29Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic ProtoporphyriaRecruitingNCT00206869
30EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)Active, not recruitingNCT02240784
31Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)Not yet recruitingNCT01617642
32Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic ProtoporphyriaWithdrawnNCT01550705

Search NIH Clinical Center for Acute Porphyria

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: Porphyrias, Hepatic

Genetic Tests for Acute Porphyria

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Anatomical Context for Acute Porphyria

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MalaCards organs/tissues related to Acute Porphyria:

33
Liver, Bone, Testes, Bone marrow, Pineal, Globus pallidus, Brain

Animal Models for Acute Porphyria or affiliated genes

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MGI Mouse Phenotypes related to Acute Porphyria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.0FECH, NR1I2, NR1I3, UROD, UROS
2MP:00107686.7ALAS1, FECH, GLUL, HMBS, NR1I2, NR1I3
3MP:00053766.6FECH, GLUL, HMBS, LIPC, NR1I2, NR1I3

Publications for Acute Porphyria

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Articles related to Acute Porphyria:

(show top 50)    (show all 258)
idTitleAuthorsYear
1
Acute porphyria precipitated by efavirenz. (25909830)
2015
2
Acute porphyria in a patient with Arnold Chiari malformation. (25697467)
2015
3
How porphyrinogenic drugs modeling acute porphyria impair the hormonal status that regulates glucose metabolism. Their relevance in the onset of this disease. (21889565)
2011
4
Thomas Wakley, King George III and acute porphyria. (19966121)
2009
5
A study of 24-hour ambulatory blood pressure monitoring in cases of intermittent acute porphyria with hypertension: special reference to safety and efficacy of angiotensin-converting enzyme inhibitor (enalapril) therapy. (12674196)
2002
6
Treatment of acute porphyria. (11480131)
2001
7
Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. (10207164)
1999
8
Acute porphyria: the cost of suspicion. (10625031)
1999
9
Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen. (9838985)
1998
10
Primary liver cancer in two sisters in Holland with intermittent acute porphyria. (9254746)
1997
11
Drug treatment in acute porphyria. (9384458)
1997
12
Markers for vulnerability in acute porphyria. A hypothesis paper. (7626691)
1995
13
Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. (1549056)
1992
14
Acute porphyria in the emergency department. (2663971)
1989
15
Chester porphyria: biochemical studies of a new form of acute porphyria. (2864531)
1985
16
Carbamazepine-induced acute porphyria syndrome. (6143958)
1984
17
Porphobilinogen-synthase (delta-aminolevulinic acid dehydratase) deficiency in bone marrow cells of two patients with porphobilinogen-synthase defect acute porphyria. (6887758)
1983
18
Superoxide dismutase, glutathione peroxidase, and catalase activities in the erythrocytes of patients with intermittent acute porphyria. (7055922)
1982
19
International review of drugs in acute porphyria--1980. (7004930)
1980
20
Catecholamine uptake, accumulation, and release in acute porphyria. (908757)
1977
21
Pathogenesis of neural manifestations in acute porphyria. (870989)
1977
22
Haemodialysis in acute porphyria. (4443572)
1974
23
On the apparent existence of GA1nther's haematoporphyria acuta toxica and acquired acute porphyria. (5150266)
1971
24
Simple and rapid screening for acute porphyria--'porphobilistix' and Hoesch test. (5150285)
1971
25
EEG findings in acute porphyria. (4194629)
1970
26
Acute porphyria in a hyperthyroid patient. (4185515)
1969
27
Abnormalities of the porphyrin metabolism in relatives of patients with acute porphyria. (5925932)
1966
28
DIFFUSE DEGENERATION OF CEREBRAL WHITE MATTER RESEMBLING SOCALLED BINSWANGER'S DISEASE AND SYMMETRICAL NECROSIS OF THE GLOBUS PALLIDUS ASSOCIATED WITH ACUTE PORPHYRIA AND CEREBRAL ATHEROSCLEROSIS. (14063325)
1963
29
Neurological manifestations of acute porphyria. (13599001)
1958
30
An unusual case of acute porphyria with volvulus and gangrene of the cecum. (13424560)
1957
31
Acute porphyria; with observations on liver lesions and on porphobilinogenuria. (13415743)
1957
32
Acute porphyria. (13428299)
1957
33
The neuropathology of acute porphyria. (13398893)
1956
34
Acute porphyria. (13318769)
1956
35
Porphobilinogen and delta-amino levulinic acid in acute porphyria. (14357411)
1955
36
Pathology of acute porphyria; experimental porphyria in animals. (13159971)
1954
37
Fate of porphobilinogen in the rat: relation to acute porphyria in man. (13175489)
1954
38
The prognosis of acute porphyria. (13042263)
1953
39
Intermittent acute porphyria. (13052063)
1953
40
Acute porphyria; report of two cases of the idiopathic type. (13018360)
1952
41
Acute porphyria; experimental treatment with A.C.T.H. (12997682)
1952
42
Acute porphyria; a study of six cases. (13008905)
1952
43
Acute porphyria. III. The separation of preformed porphyrin and porphobilinogen in the urine in acute porphyria; a coproporphyrin chromogen in normal and pathological urine. (14854801)
1951
44
A case of acute porphyria. (14890271)
1951
45
Acute porphyria in a Negro. (15439634)
1950
46
A Case of Acute Porphyria: Remissions Induced with Procaine Intravenously. (18731690)
1950
47
A note on the urinary uroporphyrin in acute porphyria. (16748651)
1950
48
SODIUM AND CHLORIDE DEPLETION IN ACUTE PORPHYRIA WITH REFERENCE TO THE STATUS OF ADRENAL CORTICAL FUNCTION. (16695727)
1949
49
Acute porphyria. (20344665)
1947
50
Acute porphyria with changes in the coeliac ganglion and prominent abdominal symptoms. (21021816)
1945

Variations for Acute Porphyria

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Clinvar genetic disease variations for Acute Porphyria:

5 (show all 41)
id Gene Variation Type Significance SNP ID Assembly Location
1HMBSHMBS, EX12DELdeletionPathogenic
2HMBSNM_000190.3(HMBS): c.77G> A (p.Arg26His)single nucleotide variantPathogenicrs118204103GRCh37Chr 11, 118959008: 118959008
3HMBSNM_000190.3(HMBS): c.346C> T (p.Arg116Trp)single nucleotide variantPathogenicrs118204094GRCh37Chr 11, 118960701: 118960701
4HMBSNM_000190.3(HMBS): c.500G> A (p.Arg167Gln)single nucleotide variantPathogenicrs118204095GRCh37Chr 11, 118962124: 118962124
5HMBSNM_000190.3(HMBS): c.518G> A (p.Arg173Gln)single nucleotide variantPathogenicrs118204096GRCh37Chr 11, 118962142: 118962142
6HMBSNM_000190.3(HMBS): c.463C> T (p.Gln155Ter)single nucleotide variantPathogenicrs118204097GRCh37Chr 11, 118960940: 118960940
7HMBSNM_000190.3(HMBS): c.446G> A (p.Arg149Gln)single nucleotide variantPathogenicrs118204098GRCh37Chr 11, 118960923: 118960923
8HMBSNM_000190.3(HMBS): c.734T> G (p.Leu245Arg)single nucleotide variantPathogenicrs118204099GRCh37Chr 11, 118963196: 118963196
9HMBSHMBS, 1-BP DEL, 900TdeletionPathogenic
10HMBSHMBS, 9-BP DEL, EX10deletionPathogenic
11HMBSNM_000190.3(HMBS): c.593G> A (p.Trp198Ter)single nucleotide variantPathogenicrs118204100GRCh37Chr 11, 118962217: 118962217
12HMBSNM_000190.3(HMBS): c.91G> A (p.Ala31Thr)single nucleotide variantPathogenicrs118204104GRCh37Chr 11, 118959348: 118959348
13HMBSNM_000190.3(HMBS): c.100C> A (p.Gln34Lys)single nucleotide variantPathogenicrs118204105GRCh37Chr 11, 118959357: 118959357
14HMBSNM_000190.3(HMBS): c.499C> T (p.Arg167Trp)single nucleotide variantPathogenicrs118204101GRCh37Chr 11, 118962123: 118962123
15HMBSNM_000190.3(HMBS): c.500G> T (p.Arg167Leu)single nucleotide variantPathogenicrs118204095GRCh37Chr 11, 118962124: 118962124
16HMBSNM_000190.3(HMBS): c.163G> T (p.Ala55Ser)single nucleotide variantPathogenicrs118204106GRCh37Chr 11, 118959794: 118959794
17HMBSHMBS, 1-BP DEL, 174CdeletionPathogenic
18HMBSHMBS, 1-BP INS, 182GinsertionPathogenic
19HMBSHMBS, IVS5DS, G-A, +1single nucleotide variantPathogenic
20HMBSNM_000190.3(HMBS): c.601C> T (p.Arg201Trp)single nucleotide variantPathogenicrs118204109GRCh37Chr 11, 118962225: 118962225
21HMBSHMBS, 2-BP DEL, 218AGdeletionPathogenic
22HMBSNM_000190.3(HMBS): c.331G> A (p.Gly111Arg)single nucleotide variantPathogenicrs118204107GRCh37Chr 11, 118960457: 118960457
23HMBSHMBS, IVS9AS, G-A, -1single nucleotide variantPathogenic
24HMBSNM_000190.3(HMBS): c.530T> G (p.Leu177Arg)single nucleotide variantPathogenicrs118204108GRCh37Chr 11, 118962154: 118962154
25HMBSNM_000190.3(HMBS): c.667G> A (p.Glu223Lys)single nucleotide variantPathogenicrs118204110GRCh37Chr 11, 118963129: 118963129
26HMBSHMBS, 2-BP DEL, 730CTdeletionPathogenic
27HMBSNM_000190.3(HMBS): c.739T> C (p.Cys247Arg)single nucleotide variantPathogenicrs118204111GRCh37Chr 11, 118963201: 118963201
28HMBSHMBS, 8-BP INSinsertionPathogenic
29HMBSNM_000190.3(HMBS): c.748G> A (p.Glu250Lys)single nucleotide variantPathogenicrs118204112GRCh37Chr 11, 118963210: 118963210
30HMBSNM_000190.3(HMBS): c.754G> A (p.Ala252Thr)single nucleotide variantPathogenicrs118204113GRCh37Chr 11, 118963216: 118963216
31HMBSNM_000190.3(HMBS): c.755C> T (p.Ala252Val)single nucleotide variantPathogenicrs118204114GRCh37Chr 11, 118963217: 118963217
32HMBSNM_000190.3(HMBS): c.766C> A (p.His256Asn)single nucleotide variantPathogenicrs118204115GRCh37Chr 11, 118963228: 118963228
33HMBSHMBS, IVS12DS, G-C, +1single nucleotide variantPathogenic
34HMBSHMBS, IVS14DS, G-A, +1single nucleotide variantPathogenic
35HMBSHMBS, IVS6DS, G-C, +1single nucleotide variantPathogenic
36HMBSNM_000190.3(HMBS): c.647G> A (p.Gly216Asp)single nucleotide variantPathogenicrs118204116GRCh37Chr 11, 118962869: 118962869
37HMBSHMBS, 2-BP DEL, 847TGdeletionPathogenic
38HMBSHMBS, ALU INSinsertionPathogenic
39HMBSNM_000190.3(HMBS): c.849G> A (p.Trp283Ter)single nucleotide variantPathogenicrs118204117GRCh37Chr 11, 118963668: 118963668
40HMBSNM_000190.3(HMBS): c.242T> C (p.Leu81Pro)single nucleotide variantPathogenicrs118204119GRCh37Chr 11, 118959958: 118959958
41HMBSNM_000190.3(HMBS): c.445C> T (p.Arg149Ter)single nucleotide variantPathogenicrs118204120GRCh37Chr 11, 118960922: 118960922

Expression for genes affiliated with Acute Porphyria

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Search GEO for disease gene expression data for Acute Porphyria.

Pathways for genes affiliated with Acute Porphyria

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GO Terms for genes affiliated with Acute Porphyria

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Cellular components related to Acute Porphyria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057397.9ALAS1, CPOX, FECH, GLUL, PC, PPOX

Biological processes related to Acute Porphyria according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1protoporphyrinogen IX metabolic processGO:004650110.5FECH, PPOX
2cellular response to amine stimulusGO:007141810.3HMBS, UROS
3response to insecticideGO:001708510.3CPOX, FECH
4response to arsenic-containing substanceGO:004668510.3CPOX, FECH
5response to metal ionGO:001003810.3FECH, HMBS
6tetrapyrrole biosynthetic processGO:003301410.1ALAS1, HMBS, UROS
7response to iron ionGO:001003910.0CPOX, UROD
8cellular response to dexamethasone stimulusGO:00715499.9FECH, HMBS
9cellular response to arsenic-containing substanceGO:00712439.9HMBS, UROD, UROS
10response to methylmercuryGO:00515979.6CPOX, FECH, HMBS, UROD
11steroid hormone mediated signaling pathwayGO:00434019.6NR1I2, NR1I3
12response to lead ionGO:00102889.5CPOX, FECH, HMBS
13intracellular receptor signaling pathwayGO:00305229.3NR1I2, NR1I3
14porphyrin-containing compound biosynthetic processGO:00067799.1CPOX, FECH, PPOX, UROD, UROS
15protoporphyrinogen IX biosynthetic processGO:00067828.8ALAS1, CPOX, HMBS, PPOX, UROD, UROS
16heme biosynthetic processGO:00067838.5ALAS1, CPOX, FECH, HMBS, PPOX, UROD
17porphyrin-containing compound metabolic processGO:00067788.5ALAS1, CPOX, FECH, HMBS, PPOX, UROD
18small molecule metabolic processGO:00442816.4ALAS1, CPOX, FECH, GLUL, HMBS, LIPC

Molecular functions related to Acute Porphyria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1uroporphyrinogen-III synthase activityGO:000485210.2HMBS, UROS
2ferrous iron bindingGO:00081989.8FECH, UROD
3thyroid hormone receptor activityGO:00048879.0NR1I2, NR1I3
4steroid hormone receptor activityGO:00037078.9NR1I2, NR1I3
5RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:00048798.7NR1I2, NR1I3

Sources for Acute Porphyria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet