MCID: ACT128
MIFTS: 49

Acute Hepatic Porphyria malady

Genetic diseases, Nephrological diseases, Skin diseases, Metabolic diseases, Rare diseases categories
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Summaries for Acute Hepatic Porphyria

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MalaCards based summary: Acute Hepatic Porphyria, also known as porphyria due to delta-aminolevulinate dehydratase deficiency, is related to harderoporphyria and porphyria, and has symptoms including skin photosensitivity, cutaneous rash and vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment. 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:46 612740

Aliases & Classifications for Acute Hepatic Porphyria

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Sources:
62UMLS, 20GeneTests, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Acute Hepatic Porphyria, Aliases & Descriptions:

Name: Acute Hepatic Porphyria 20
Porphyria Due to Delta-Aminolevulinate Dehydratase Deficiency 48
Porphyria Due to Ala Dehydratase Deficiency 48
Porphobilinogen Synthase Deficiency 62
Porphyria Due to Alad Deficiency 48
 
Porphyria, Acute Hepatic 46
Porphyria of Doss 48
Porphyria, Alad 62
Alad Porphyria 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
porphyria due to delta-aminolevulinate dehydratase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


External Ids:

OMIM46 612740
ICD10 via Orphanet26 E80.2

Related Diseases for Acute Hepatic Porphyria

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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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Symptoms by clinical synopsis from OMIM:

612740

Clinical features from OMIM:

612740

Symptoms:

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

HPO human phenotypes related to Acute Hepatic Porphyria:

(show all 22)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 thin skin hallmark (90%) HP:0000963
3 skin rash hallmark (90%) HP:0000988
4 cutaneous photosensitivity hallmark (90%) HP:0000992
5 hypertrichosis hallmark (90%) HP:0000998
6 hypopigmented skin patches hallmark (90%) HP:0001053
7 abdominal pain hallmark (90%) HP:0002027
8 irregular hyperpigmentation hallmark (90%) HP:0007400
9 abnormal blistering of the skin hallmark (90%) HP:0008066
10 neoplasm of the skin hallmark (90%) HP:0008069
11 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
12 cerebral palsy occasional (7.5%) HP:0100021
13 autosomal recessive inheritance HP:0000007
14 muscular hypotonia HP:0001252
15 failure to thrive HP:0001508
16 hemolytic anemia HP:0001878
17 vomiting HP:0002013
18 respiratory paralysis HP:0002203
19 elevated urinary delta-aminolevulinic acid HP:0003163
20 paresthesia HP:0003401
21 paralysis HP:0003470
22 abdominal colic HP:0011848

Drugs & Therapeutics for Acute Hepatic Porphyria

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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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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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MalaCards organs/tissues related to Acute Hepatic Porphyria:

32
Skin, Liver

Animal Models for Acute Hepatic Porphyria or affiliated genes

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Publications for Acute Hepatic Porphyria

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Articles related to Acute Hepatic Porphyria:

(show all 36)
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
Tin protoporphyrin prolongs the biochemical remission produced by heme arginate in acute hepatic porphyria. (8335204)
1993
15
An acquired acute hepatic porphyria: a novel type of delta-aminolevulinate dehydratase inhibition. (1486684)
1992
16
Regional anesthesia as anesthetic technique of choice in acute hepatic porphyria. (1610588)
1992
17
Haem-arginate plus tin-protoporphyrin for acute hepatic porphyria. (1676821)
1991
18
Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria. (2222472)
1990
19
Controlled trial of haem arginate in acute hepatic porphyria. (2566827)
1989
20
Respiratory insufficiency associated with acute hepatic porphyria. (2635211)
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
Hereditary prophobilinogen synthase deficiency in human associated with acute hepatic porphyria. (7287003)
1981
31
Treatment with haematin in acute hepatic porphyria. (7302116)
1981
32
Acute hepatic porphyria syndrome with porphobilinogen synthase defect. (7450139)
1980
33
Seizure management in acute hepatic porphyria: risks of valproate and clonazepam. (6770287)
1980
34
Treatment of acute hepatic porphyria. (76940)
1978
35
Treatment of acute hepatic porphyria. (78125)
1978
36
Porphyria: report of two cases of acute hepatic porphyria with review of literature. (13816366)
1960

Variations for Acute Hepatic Porphyria

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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:

6
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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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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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 biosynthesis37
heme degradation37
Heme Biosynthesis37
heme biosynthesis37
heme biosynthesis from uroporphyrinogen-III I37
6.9HMBS, PPOX, CPOX, FECH, UROD, ALAS1

Compounds for genes affiliated with Acute Hepatic Porphyria

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 50PharmGKB
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Compounds related to Acute Hepatic Porphyria according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1coproporphyrin i44 1111.2UROD, ALAD
2Coproporphyrin III24 1111.1CPOX, UROD
3porphyrinogen4410.0CPOX, UROD
4Coproporphyrinogen III2410.0CPOX, UROD
5Protoporphyrinogen IX2410.0PPOX, CPOX
6ethylenediaminetetraacetic acid449.9ALAD, FECH
7mspi449.9ALAD, HMBS
8actb449.9HMBS, ALAS1
9mercury449.9UROD, CPOX
10uroporphyrin i449.8HMBS, ALAD, UROD
11heme arginate449.8HMOX1, HMBS
12propionate449.8UROD, CPOX
13mesoporphyrin449.7HMOX1, FECH
14acetyl-l-carnitine449.7HMOX1, CPOX
15ppix449.6PPOX, FECH, HMBS
16pyrrole449.6UROD, FECH, CPOX
17carbon dioxide44 2410.5ALAS1, UROD, CPOX
18copper44 2410.4CPOX, FECH, ALAD
19vitamin b6449.4FECH, ALAS1
20zinc protoporphyrin449.4HMOX1, ALAD, FECH
21s-nitroso-n-acetylpenicillamine449.4HMOX1, FECH
22salicylic acid44 2810.4HMOX1, CPOX
23uroporphyrin449.4CPOX, UROD, ALAD, HMBS
24ethanol44 50 24 1112.3HMBS, ALAD, UROD, CPOX
25hydroxymethylbilane44 2410.2PPOX, FECH, UROD, HMBS
26deferoxamine44 1110.2FECH, HMOX1
27lead449.2CPOX, FECH, ALAD, HMBS
28histidine449.1FECH, UROD, ALAS1, HMBS
29phenobarbital44 28 50 1112.0UROD, ALAS1, HMOX1, HMBS
30superoxide44 249.9CPOX, FECH, ALAD, HMOX1
31Water248.9HMBS, HMOX1, CPOX, PPOX
32arginine448.8PPOX, CPOX, HMOX1, HMBS
33uroporphyrinogen-iii448.8PPOX, CPOX, FECH, UROD, HMBS
34cycloheximide448.8CPOX, ALAS1, HMOX1, HMBS
35lactate448.8HMOX1, ALAD, CPOX
36alanine448.5CPOX, FECH, ALAS1, HMOX1
37nitric oxide44 24 1110.5CPOX, FECH, ALAD, HMOX1, HMBS
38protoporphyrinogen448.5PPOX, CPOX, FECH, UROD, ALAD, HMBS
39oxygen44 249.0PPOX, CPOX, FECH, UROD, ALAS1, HMOX1
40formyl-coa44 249.0HMBS, ALAD, ALAS1, UROD, PPOX, CPOX
41porphobilinogen44 24 1110.0PPOX, CPOX, FECH, UROD, ALAS1, ALAD
42porphyrin448.0PPOX, CPOX, FECH, UROD, ALAS1, ALAD
43protoporphyrin ix44 24 119.9HMBS, HMOX1, ALAD, UROD, FECH, CPOX
44haem447.6PPOX, CPOX, FECH, UROD, ALAS1, HMOX1
455-aminolevulinic acid44 248.3HMBS, PPOX, CPOX, FECH, UROD, ALAS1
46heme28 24 119.3FECH, UROD, ALAS1, ALAD, HMOX1, HMBS
47iron44 248.3PPOX, CPOX, FECH, UROD, ALAS1, ALAD

GO Terms for genes affiliated with Acute Hepatic Porphyria

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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

Sources for Acute Hepatic Porphyria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet