MCID: ACT128
MIFTS: 49

Acute Hepatic Porphyria malady

Genetic diseases, Neuronal diseases, Nephrological diseases, Skin diseases, Rare diseases categories

Summaries for Acute Hepatic Porphyria

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48OMIM, 34MalaCards
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MalaCards: Acute Hepatic Porphyria, also known as porphyria due to delta-aminolevulinate dehydratase deficiency, is related to porphyria and harderoporphyria, and has symptoms including acute palsy, hemiplegia/diplegia/hemiparesia/limb palsy and autosomal recessive inheritance. An important gene associated with Acute Hepatic Porphyria is ALAD (aminolevulinate dehydratase), and among its related pathways are HIF-1-alpha transcription factor network and Metabolism. The compounds coproporphyrin i and Coproporphyrin III have been mentioned in the context of this disorder. Affiliated tissues include skin and liver.

Description from OMIM:48 612740

Aliases & Classifications for Acute Hepatic Porphyria

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63UMLS, 21GeneTests, 50Orphanet, 48OMIM, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
acute hepatic porphyria:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable
porphyria due to delta-aminolevulinate dehydratase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

acute hepatic porphyria 21 50
porphyria due to delta-aminolevulinate dehydratase deficiency 50
porphyria due to ala dehydratase deficiency 50
porphobilinogen synthase deficiency 63
porphyria due to alad deficiency 50
porphyria, acute hepatic 48
porphyria of doss 50
alad porphyria 50


External Ids:

ICD10 via Orphanet27 E80.2
OMIM48 612740

Related Diseases for Acute Hepatic Porphyria

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Acute Hepatic Porphyria:



Diseases related to acute hepatic porphyria

Symptoms for Acute Hepatic Porphyria

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

612740

Clinical features from OMIM:

612740

Symptoms:

50 (show all 13)
  • acute palsy
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • autosomal recessive inheritance
  • psychic/behavioural troubles
  • acute abdominal pain/colic
  • hirsutism/hypertrichosis/increased body hair
  • skin tumors/lumps/epidermal cysts
  • irregular/in bands/reticular skin hyperpigmentation
  • irregular/patchy skin hypopigmentation
  • thin skin
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • cutaneous rash
  • skin photosensitivity

Drugs & Therapeutics for Acute Hepatic Porphyria

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Acute Hepatic Porphyria

Drug clinical trials:

Search ClinicalTrials for Acute Hepatic Porphyria

Search NIH Clinical Center for Acute Hepatic Porphyria

Search CenterWatch for Acute Hepatic Porphyria

Genetic Tests for Acute Hepatic Porphyria

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21GeneTests
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Genetic tests related to Acute Hepatic Porphyria:

id Genetic test Affiliating Genes
1 Acute Hepatic Porphyria21 ALAD

Anatomical Context for Acute Hepatic Porphyria

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34MalaCards
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MalaCards organs/tissues related to Acute Hepatic Porphyria:

34
Skin, Liver

Animal Models for Acute Hepatic Porphyria or affiliated genes

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Publications for Acute Hepatic Porphyria

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53PubMed
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Articles related to Acute Hepatic Porphyria:

(show all 35)
idTitleAuthorsYear
1
High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria. (23344888)
2013
2
Safe and probably safe drugs in acute hepatic porphyria. (19656463)
2009
3
Unusual manifestation of acute hepatic porphyria in pregnancy. (17139171)
2007
4
Refractory status epilepticus due to acute hepatic porphyria in a pregnant woman: induced abortion as the sole therapeutic option? (15469454)
2004
5
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. (14669009)
2004
6
Secondary coproporphyrinuria in a patient with the full clinical picture of a hereditary acute hepatic porphyria. A misleading clinical and biochemical course. (12242568)
2002
7
Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyria. (11343251)
2001
8
Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. (10706561)
2000
9
Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors. (10898313)
2000
10
Effects of clonidine in a primed rat model of acute hepatic porphyria. (9239451)
1997
11
Safety of general anaesthesia and surgery in acute hepatic porphyria. (7926916)
1994
12
Lofepramine--a safe anti-depressant in acute hepatic porphyria? (22298537)
1994
13
Normal serum alpha-fetoprotein in acute hepatic porphyria. (7520679)
1994
14
An acquired acute hepatic porphyria: a novel type of delta-aminolevulinate dehydratase inhibition. (1486684)
1992
15
Regional anesthesia as anesthetic technique of choice in acute hepatic porphyria. (1610588)
1992
16
Haem-arginate plus tin-protoporphyrin for acute hepatic porphyria. (1676821)
1991
17
Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria. (2222472)
1990
18
Controlled trial of haem arginate in acute hepatic porphyria. (2566827)
1989
19
Respiratory insufficiency associated with acute hepatic porphyria. (2635211)
1989
20
ACUTE HEPATIC PORPHYRIA AND PSYCHOSES: (Experience of twelve years). (21927409)
1989
21
Acute hepatic porphyria and hepatocellular carcinoma. (2831925)
1988
22
Treatment of acute hepatic porphyria with hematin. (3346530)
1988
23
Effect of haem arginate therapy on porphyrin metabolism and mixed function oxygenase activity in acute hepatic porphyria. (2890809)
1987
24
Antipyrine metabolism in acute hepatic porphyria in relapse and remission. (3567053)
1987
25
Instability of hematin used in the treatment of acute hepatic porphyria. (3724815)
1986
26
Latent acute hepatic porphyria. (2857270)
1985
27
L-tryptophan: a common denominator of biochemical and neurological events of acute hepatic porphyria? (6648517)
1983
28
Acute hepatic porphyria in Poland. (6123653)
1982
29
Effects of atropine on pulse rate in acute hepatic porphyria. (7126004)
1982
30
Treatment with haematin in acute hepatic porphyria. (7302116)
1981
31
Acute hepatic porphyria syndrome with porphobilinogen synthase defect. (7450139)
1980
32
Seizure management in acute hepatic porphyria: risks of valproate and clonazepam. (6770287)
1980
33
Treatment of acute hepatic porphyria. (76940)
1978
34
Treatment of acute hepatic porphyria. (78125)
1978
35
Porphyria: report of two cases of acute hepatic porphyria with review of literature. (13816366)
1960

Variations for Acute Hepatic Porphyria

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Acute Hepatic Porphyria:

65
id Symbol AA change Variation ID SNP ID
1ALADp.Gly133ArgVAR_003634
2ALADp.Arg240TrpVAR_003635
3ALADp.Ala274ThrVAR_003636
4ALADp.Val275MetVAR_003637
5ALADp.Val153MetVAR_020974

Clinvar genetic disease variations for Acute Hepatic Porphyria:

1
id Gene Name Type Significance SNP ID Assembly Location
1ALADNM_000031.5(ALAD): c.397G> A (p.Gly133Arg)single nucleotide variantPathogenicrs121912980GRCh37Chr 9, 116153078: 116153078
2ALADNM_000031.5(ALAD): c.823G> A (p.Val275Met)single nucleotide variantPathogenicrs121912981GRCh37Chr 9, 116151365: 116151365
3ALADNM_000031.5(ALAD): c.718C> T (p.Arg240Trp)single nucleotide variantPathogenicrs121912982GRCh37Chr 9, 116151801: 116151801
4ALADNM_000031.5(ALAD): c.820G> A (p.Ala274Thr)single nucleotide variantPathogenicrs121912983GRCh37Chr 9, 116151368: 116151368
5ALADALAD, IVS3AS, C-A, -11single nucleotide variantPathogenic
6ALADALAD, IVS3AS, C-T, -11single nucleotide variantPathogenic

Expression for genes affiliated with Acute Hepatic Porphyria

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Acute Hepatic Porphyria

Search GEO for disease gene expression data for Acute Hepatic Porphyria.

Pathways for genes affiliated with Acute Hepatic Porphyria

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG
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Pathways related to Acute Hepatic Porphyria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3HMOX1, FECH
2
Show member pathways
6.9PPOX, CPOX, FECH, UROD, ALAS1, ALAD
3
Show member pathways
tetrapyrrole biosynthesis39
heme degradation39
Heme Biosynthesis39
heme biosynthesis39
heme biosynthesis from uroporphyrinogen-III I39
6.9HMBS, PPOX, CPOX, FECH, UROD, ALAS1

Compounds for genes affiliated with Acute Hepatic Porphyria

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46Novoseek, 12DrugBank, 25HMDB, 30IUPHAR, 52PharmGKB
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Compounds related to Acute Hepatic Porphyria according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1coproporphyrin i46 1211.2UROD, ALAD
2Coproporphyrin III25 1211.1CPOX, UROD
3porphyrinogen4610.0CPOX, UROD
4Coproporphyrinogen III2510.0CPOX, UROD
5Protoporphyrinogen IX2510.0PPOX, CPOX
6ethylenediaminetetraacetic acid469.9ALAD, FECH
7mspi469.9ALAD, HMBS
8actb469.9HMBS, ALAS1
9mercury469.9UROD, CPOX
10uroporphyrin i469.8HMBS, ALAD, UROD
11heme arginate469.8HMOX1, HMBS
12propionate469.8UROD, CPOX
13mesoporphyrin469.7HMOX1, FECH
14acetyl-l-carnitine469.7HMOX1, CPOX
15ppix469.6PPOX, FECH, HMBS
16pyrrole469.6UROD, FECH, CPOX
17carbon dioxide46 2510.5ALAS1, UROD, CPOX
18copper46 2510.4CPOX, FECH, ALAD
19vitamin b6469.4FECH, ALAS1
20zinc protoporphyrin469.4HMOX1, ALAD, FECH
21s-nitroso-n-acetylpenicillamine469.4HMOX1, FECH
22salicylic acid46 3010.4HMOX1, CPOX
23uroporphyrin469.4CPOX, UROD, ALAD, HMBS
24ethanol46 52 25 1212.3HMBS, ALAD, UROD, CPOX
25hydroxymethylbilane46 2510.2PPOX, FECH, UROD, HMBS
26deferoxamine46 1210.2FECH, HMOX1
27lead469.2CPOX, FECH, ALAD, HMBS
28histidine469.1FECH, UROD, ALAS1, HMBS
29phenobarbital46 30 52 1212.0UROD, ALAS1, HMOX1, HMBS
30superoxide46 259.9CPOX, FECH, ALAD, HMOX1
31Water258.9HMBS, HMOX1, CPOX, PPOX
32arginine468.8PPOX, CPOX, HMOX1, HMBS
33uroporphyrinogen-iii468.8PPOX, CPOX, FECH, UROD, HMBS
34cycloheximide468.8CPOX, ALAS1, HMOX1, HMBS
35lactate468.8HMOX1, ALAD, CPOX
36alanine468.5CPOX, FECH, ALAS1, HMOX1
37nitric oxide46 25 1210.5CPOX, FECH, ALAD, HMOX1, HMBS
38protoporphyrinogen468.5PPOX, CPOX, FECH, UROD, ALAD, HMBS
39oxygen46 259.0PPOX, CPOX, FECH, UROD, ALAS1, HMOX1
40formyl-coa46 259.0HMBS, ALAD, ALAS1, UROD, PPOX, CPOX
41porphobilinogen46 25 1210.0PPOX, CPOX, FECH, UROD, ALAS1, ALAD
42porphyrin468.0PPOX, CPOX, FECH, UROD, ALAS1, ALAD
43protoporphyrin ix46 25 129.9HMBS, HMOX1, ALAD, UROD, FECH, CPOX
44haem467.6PPOX, CPOX, FECH, UROD, ALAS1, HMOX1
455-aminolevulinic acid46 258.3HMBS, PPOX, CPOX, FECH, UROD, ALAS1
46heme30 25 129.3FECH, UROD, ALAS1, ALAD, HMOX1, HMBS
47iron46 258.3PPOX, CPOX, FECH, UROD, ALAS1, ALAD

GO Terms for genes affiliated with Acute Hepatic Porphyria

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17Gene Ontology
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Cellular components related to Acute Hepatic Porphyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial intermembrane spaceGO:0057589.6CPOX, PPOX

Biological processes related to Acute Hepatic Porphyria according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1response to insecticideGO:0170859.6FECH, CPOX
2response to methylmercuryGO:0515979.5CPOX, FECH
3response to arsenic-containing substanceGO:0466859.4FECH, CPOX
4iron ion homeostasisGO:0550729.3HMOX1, FECH
5response to lead ionGO:0102889.2FECH, CPOX
6protoporphyrinogen IX biosynthetic processGO:0067828.2HMBS, ALAD, ALAS1, UROD, CPOX, PPOX
7heme biosynthetic processGO:0067837.7FECH, CPOX, PPOX, UROD, ALAS1, HMBS
8porphyrin-containing compound metabolic processGO:0067787.1HMBS, HMOX1, ALAD, ALAS1, UROD, FECH
9small molecule metabolic processGO:0442817.0PPOX, CPOX, FECH, UROD, ALAS1, ALAD

Products for genes affiliated with Acute Hepatic Porphyria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Acute Hepatic Porphyria

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet