MCID: ACT128
MIFTS: 49

Acute Hepatic Porphyria malady

Genetic diseases, Neuronal diseases, Nephrological diseases, Skin diseases, Rare diseases categories
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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 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:47 612740

Aliases & Classifications for Acute Hepatic Porphyria

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62UMLS, 20GeneTests, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:



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 62
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

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

612740

Clinical features from OMIM:

612740

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Acute Hepatic Porphyria

Search NIH Clinical Center for Acute Hepatic Porphyria

Genetic Tests for Acute Hepatic Porphyria

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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

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

33
Skin, Liver

Animal Models for Acute Hepatic Porphyria or affiliated genes

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Publications for Acute Hepatic Porphyria

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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Acute Hepatic Porphyria:

64
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, 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

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG
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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 biosynthesis38
heme degradation38
Heme Biosynthesis38
heme biosynthesis38
heme biosynthesis from uroporphyrinogen-III I38
6.9HMBS, PPOX, CPOX, FECH, UROD, ALAS1

Compounds for genes affiliated with Acute Hepatic Porphyria

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45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 51PharmGKB
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Compounds related to Acute Hepatic Porphyria according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1coproporphyrin i45 1111.2UROD, ALAD
2Coproporphyrin III24 1111.1CPOX, UROD
3porphyrinogen4510.0CPOX, UROD
4Coproporphyrinogen III2410.0CPOX, UROD
5Protoporphyrinogen IX2410.0PPOX, CPOX
6ethylenediaminetetraacetic acid459.9ALAD, FECH
7mspi459.9ALAD, HMBS
8actb459.9HMBS, ALAS1
9mercury459.9UROD, CPOX
10uroporphyrin i459.8HMBS, ALAD, UROD
11heme arginate459.8HMOX1, HMBS
12propionate459.8UROD, CPOX
13mesoporphyrin459.7HMOX1, FECH
14acetyl-l-carnitine459.7HMOX1, CPOX
15ppix459.6PPOX, FECH, HMBS
16pyrrole459.6UROD, FECH, CPOX
17carbon dioxide45 2410.5ALAS1, UROD, CPOX
18copper45 2410.4CPOX, FECH, ALAD
19vitamin b6459.4FECH, ALAS1
20zinc protoporphyrin459.4HMOX1, ALAD, FECH
21s-nitroso-n-acetylpenicillamine459.4HMOX1, FECH
22salicylic acid45 2910.4HMOX1, CPOX
23uroporphyrin459.4CPOX, UROD, ALAD, HMBS
24ethanol45 51 24 1112.3HMBS, ALAD, UROD, CPOX
25hydroxymethylbilane45 2410.2PPOX, FECH, UROD, HMBS
26deferoxamine45 1110.2FECH, HMOX1
27lead459.2CPOX, FECH, ALAD, HMBS
28histidine459.1FECH, UROD, ALAS1, HMBS
29phenobarbital45 29 51 1112.0UROD, ALAS1, HMOX1, HMBS
30superoxide45 249.9CPOX, FECH, ALAD, HMOX1
31Water248.9HMBS, HMOX1, CPOX, PPOX
32arginine458.8PPOX, CPOX, HMOX1, HMBS
33uroporphyrinogen-iii458.8PPOX, CPOX, FECH, UROD, HMBS
34cycloheximide458.8CPOX, ALAS1, HMOX1, HMBS
35lactate458.8HMOX1, ALAD, CPOX
36alanine458.5CPOX, FECH, ALAS1, HMOX1
37nitric oxide45 24 1110.5CPOX, FECH, ALAD, HMOX1, HMBS
38protoporphyrinogen458.5PPOX, CPOX, FECH, UROD, ALAD, HMBS
39oxygen45 249.0PPOX, CPOX, FECH, UROD, ALAS1, HMOX1
40formyl-coa45 249.0HMBS, ALAD, ALAS1, UROD, PPOX, CPOX
41porphobilinogen45 24 1110.0PPOX, CPOX, FECH, UROD, ALAS1, ALAD
42porphyrin458.0PPOX, CPOX, FECH, UROD, ALAS1, ALAD
43protoporphyrin ix45 24 119.9HMBS, HMOX1, ALAD, UROD, FECH, CPOX
44haem457.6PPOX, CPOX, FECH, UROD, ALAS1, HMOX1
455-aminolevulinic acid45 248.3HMBS, PPOX, CPOX, FECH, UROD, ALAS1
46heme29 24 119.3FECH, UROD, ALAS1, ALAD, HMOX1, HMBS
47iron45 248.3PPOX, CPOX, FECH, UROD, ALAS1, ALAD

GO Terms for genes affiliated with Acute Hepatic Porphyria

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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:

(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
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Sources for Acute Hepatic Porphyria

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet