MCID: ACT128
MIFTS: 40

Acute Hepatic Porphyria malady

Neuronal, Nephrological, Skin, Metabolic categories

Summaries for Acute Hepatic Porphyria

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47OMIM, 33MalaCards
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MalaCards: Acute Hepatic Porphyria, also known as porphyria due to delta-aminolevulinate dehydratase deficiency, is related to acute porphyria and hereditary coproporphyria, and has symptoms including autosomal recessive inheritance, hemiplegia/diplegia/hemiparesia/limb palsy and psychic/behavioural troubles. 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 Glucuronidation. The compounds coproporphyrin i and Coproporphyrin Iii have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM:47 612740

Aliases & Classifications for Acute Hepatic Porphyria

Sources:
61UMLS, 20GeneTests, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Nephrological, Skin, Metabolic


Characteristics (Orphanet epidemiological data):

49
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 20 49
porphyria due to delta-aminolevulinate dehydratase deficiency 49
porphyria due to ala dehydratase deficiency 49
porphobilinogen synthase deficiency 61
porphyria due to alad deficiency 49
porphyria, acute hepatic 47
porphyria of doss 49
alad porphyria 49


External Ids:

ICD10 via Orphanet26 E80.2
OMIM47 612740

Related Diseases for Acute Hepatic Porphyria

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Acute Hepatic Porphyria:



Diseases related to acute hepatic porphyria

Clinical Features for Acute Hepatic Porphyria

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

612740

Clinical synopsis from OMIM:

612740

Symptoms:

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

Drugs & Therapeutics for Acute Hepatic Porphyria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
20GeneTests
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Genetic tests related to Acute Hepatic Porphyria:

id Genetic test Affiliating Genes
1 Acute Hepatic Porphyria20 ALAD

Anatomical Context for Acute Hepatic Porphyria

Sources:
33MalaCards
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MalaCards organs/tissues related to Acute Hepatic Porphyria:

33
Liver

Animal Models for Acute Hepatic Porphyria or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Acute Hepatic Porphyria

Sources:
51PubMed
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Articles related to Acute Hepatic Porphyria:

(show all 45)
idTitleAuthorsYear
1
High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria. (23344888)
2013
2
Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis. (21618697)
2012
3
Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse. (22412963)
2012
4
Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients. (19570056)
2009
5
Safe and probably safe drugs in acute hepatic porphyria. (19656463)
2009
6
Hepatic alteration of tryptophan metabolism in an acute porphyria model Its relation with gluconeogenic blockage. (17996218)
2008
7
Unusual manifestation of acute hepatic porphyria in pregnancy. (17139171)
2007
8
Refractory status epilepticus due to acute hepatic porphyria in a pregnant woman: induced abortion as the sole therapeutic option? (15469454)
2004
9
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. (14669009)
2004
10
Secondary coproporphyrinuria in a patient with the full clinical picture of a hereditary acute hepatic porphyria. A misleading clinical and biochemical course. (12242568)
2002
11
Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyria. (11343251)
2001
12
Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. (10706561)
2000
13
Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors. (10898313)
2000
14
Effects of clonidine in a primed rat model of acute hepatic porphyria. (9239451)
1997
15
Polypeptide levels increase during acute onset of hepatic porphyrias. (9074785)
1997
16
Congenital erythropoietic porphyria. Apropos of a fatal case in the neonatal period due to acute hemolysis with hepatic failure]. (7550841)
1995
17
Safety of general anaesthesia and surgery in acute hepatic porphyria. (7926916)
1994
18
Lofepramine--a safe anti-depressant in acute hepatic porphyria? (22298537)
1994
19
Normal serum alpha-fetoprotein in acute hepatic porphyria. (7520679)
1994
20
Tin protoporphyrin prolongs the biochemical remission produced by heme arginate in acute hepatic porphyria. (8335204)
1993
21
An acquired acute hepatic porphyria: a novel type of delta-aminolevulinate dehydratase inhibition. (1486684)
1992
22
Regional anesthesia as anesthetic technique of choice in acute hepatic porphyria. (1610588)
1992
23
Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools. (1713408)
1991
24
Haem-arginate plus tin-protoporphyrin for acute hepatic porphyria. (1676821)
1991
25
Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria. (2222472)
1990
26
Controlled trial of haem arginate in acute hepatic porphyria. (2566827)
1989
27
Respiratory insufficiency associated with acute hepatic porphyria. (2635211)
1989
28
ACUTE HEPATIC PORPHYRIA AND PSYCHOSES: (Experience of twelve years). (21927409)
1989
29
Acute hepatic porphyria and hepatocellular carcinoma. (2831925)
1988
30
Treatment of acute hepatic porphyria with hematin. (3346530)
1988
31
Effect of haem arginate therapy on porphyrin metabolism and mixed function oxygenase activity in acute hepatic porphyria. (2890809)
1987
32
Antipyrine metabolism in acute hepatic porphyria in relapse and remission. (3567053)
1987
33
Instability of hematin used in the treatment of acute hepatic porphyria. (3724815)
1986
34
Latent acute hepatic porphyria. (2857270)
1985
35
L-tryptophan: a common denominator of biochemical and neurological events of acute hepatic porphyria? (6648517)
1983
36
Acute hepatic porphyria in Poland. (6123653)
1982
37
Effects of atropine on pulse rate in acute hepatic porphyria. (7126004)
1982
38
Hereditary prophobilinogen synthase deficiency in human associated with acute hepatic porphyria. (7287003)
1981
39
Treatment with haematin in acute hepatic porphyria. (7302116)
1981
40
Acute hepatic porphyria syndrome with porphobilinogen synthase defect. (7450139)
1980
41
Seizure management in acute hepatic porphyria: risks of valproate and clonazepam. (6770287)
1980
42
Treatment of acute hepatic porphyria. (76940)
1978
43
Treatment of acute hepatic porphyria. (78125)
1978
44
Stimulation of hepatic porphyrin synthesis in tissue culture by sera of patients with acute porphyria. (5375160)
1969
45
Porphyria: report of two cases of acute hepatic porphyria with review of literature. (13816366)
1960

Genetic Variations for Acute Hepatic Porphyria

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Acute Hepatic Porphyria:

63
id Symbol AA change Variation SNP ID
1ALADp.Gly133ArgVAR_003634
2ALADp.Arg240TrpVAR_003635
3ALADp.Ala274ThrVAR_003636
4ALADp.Val275MetVAR_003637
5ALADp.Val153MetVAR_020974

Expression for genes affiliated with Acute Hepatic Porphyria

Sources:
1BioGPS, 15Gene 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

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome
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Compounds for genes affiliated with Acute Hepatic Porphyria

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB
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Compounds related to Acute Hepatic Porphyria according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1coproporphyrin i45 1111.1UROD, ALAD
2Coproporphyrin Iii11 2411.0UROD, CPOX
3porphyrinogen4510.0UROD, CPOX
4mspi459.9ALAD, HMBS
5mercury459.9CPOX, UROD
6ethylenediaminetetraacetic acid459.9ALAD, FECH
7propionate459.9UROD, CPOX
8heme arginate459.9HMBS, HMOX1
9uroporphyrin i459.8ALAD, HMBS, UROD
10acetyl-l-carnitine459.7CPOX, HMOX1
11mesoporphyrin459.7FECH, HMOX1
12actb459.6ALAS1, HMBS
13pyrrole459.6CPOX, UROD, FECH
14ppix459.5FECH, PPOX, HMBS
15copper45 2410.4FECH, ALAD, CPOX
16salicylic acid45 2910.4CPOX, HMOX1
17uroporphyrin459.4UROD, HMBS, ALAD, CPOX
18zinc protoporphyrin459.4FECH, HMOX1, ALAD
19ethanol45 50 11 2412.3UROD, HMBS, ALAD, CPOX
20s-nitroso-n-acetylpenicillamine459.3HMOX1, FECH
21lead459.2CPOX, ALAD, HMBS, FECH
22deferoxamine45 1110.2FECH, HMOX1
23hydroxymethylbilane45 2410.2FECH, UROD, PPOX, HMBS
24carbon dioxide45 2410.2CPOX, ALAS1, UROD
25superoxide45 249.9FECH, HMOX1, ALAD, CPOX
26vitamin b6458.8FECH, ALAS1
27arginine458.8CPOX, HMOX1, HMBS, PPOX
28uroporphyrinogen-iii458.8FECH, UROD, PPOX, HMBS, CPOX
29histidine458.7ALAS1, HMBS, UROD, FECH
30phenobarbital45 29 1110.7ALAS1, HMOX1, HMBS, UROD
31nitric oxide45 11 2410.6FECH, HMBS, HMOX1, ALAD, CPOX
32protoporphyrinogen458.5FECH, UROD, PPOX, HMBS, ALAD, CPOX
33alanine458.2FECH, HMOX1, ALAS1, CPOX
34protoporphyrin ix45 11 249.9FECH, UROD, PPOX, HMBS, HMOX1, ALAD
35formyl-coa45 248.6FECH, UROD, PPOX, HMBS, ALAS1, ALAD
36porphobilinogen45 11 249.6FECH, UROD, PPOX, HMBS, ALAS1, ALAD
37porphyrin457.6FECH, UROD, PPOX, HMBS, ALAS1, ALAD
38oxygen45 248.6FECH, UROD, PPOX, HMOX1, ALAS1, CPOX
39haem457.4PPOX, HMBS, HMOX1, ALAS1, CPOX, UROD
405-aminolevulinic acid45 248.0CPOX, FECH, UROD, PPOX, HMBS, HMOX1
41heme29 11 249.0HMBS, HMOX1, ALAS1, ALAD, CPOX, PPOX
42iron45 248.0FECH, UROD, PPOX, HMBS, HMOX1, ALAS1

GO Terms for genes affiliated with Acute Hepatic Porphyria

Sources:
16Gene 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:

idNameGO IDScoreTop Affiliating Genes
1iron ion homeostasisGO:0550729.3HMOX1, FECH
2protoporphyrinogen IX biosynthetic processGO:0067827.6CPOX, ALAD, ALAS1, HMBS, PPOX, UROD
3heme biosynthetic processGO:0067837.2PPOX, UROD, FECH, HMBS, ALAS1, CPOX
4porphyrin-containing compound metabolic processGO:0067786.7CPOX, ALAD, ALAS1, HMOX1, HMBS, PPOX
5small molecule metabolic processGO:0442816.3FECH, UROD, PPOX, HMBS, HMOX1, ALAS1

Products for genes affiliated with Acute Hepatic Porphyria

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Acute Hepatic Porphyria

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet