MCID: ACT128
MIFTS: 44

Acute Hepatic Porphyria malady

Neuronal diseases, Nephrological diseases, Skin diseases, Metabolic diseases categories

Summaries for Acute Hepatic Porphyria

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46OMIM, 32MalaCards
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MalaCards: Acute Hepatic Porphyria, also known as porphyria due to delta-aminolevulinate dehydratase deficiency, is related to hepatitis and acute porphyria, 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 Glucuronidation. The compounds coproporphyrin i and Coproporphyrin Iii have been mentioned in the context of this disorder. Affiliated tissues include skin.

Description from OMIM:46 612740

Aliases & Classifications for Acute Hepatic Porphyria

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60UMLS, 20GeneTests, 48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 48
porphyria due to delta-aminolevulinate dehydratase deficiency 48
porphyria due to ala dehydratase deficiency 48
porphobilinogen synthase deficiency 60
porphyria due to alad deficiency 48
porphyria, acute hepatic 46
porphyria of doss 48
alad porphyria 48


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ICD10 via Orphanet26 E80.2
OMIM46 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

Clinical Features for Acute Hepatic Porphyria

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46OMIM, 48Orphanet
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Clinical features from OMIM:

612740

Clinical synopsis from OMIM:

612740

Symptoms:

48 (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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5CenterWatch, 41NIH 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

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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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32MalaCards
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MalaCards organs/tissues related to Acute Hepatic Porphyria:

32
Skin

Animal Models for Acute Hepatic Porphyria or affiliated genes

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Publications for Acute Hepatic Porphyria

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Genetic Variations for Acute Hepatic Porphyria

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Acute Hepatic Porphyria:

62
id Symbol AA change Variation ID 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

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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

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Sources:
37NCBI BioSystems Database, 29KEGG, 53Reactome
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Compounds for genes affiliated with Acute Hepatic Porphyria

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
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Compounds related to Acute Hepatic Porphyria according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1coproporphyrin i44 1111.1UROD, ALAD
2Coproporphyrin Iii11 2411.0UROD, CPOX
3porphyrinogen4410.0UROD, CPOX
4mspi449.9ALAD, HMBS
5mercury449.9CPOX, UROD
6ethylenediaminetetraacetic acid449.9ALAD, FECH
7propionate449.9UROD, CPOX
8heme arginate449.9HMBS, HMOX1
9uroporphyrin i449.8ALAD, HMBS, UROD
10acetyl-l-carnitine449.7CPOX, HMOX1
11mesoporphyrin449.7FECH, HMOX1
12actb449.6ALAS1, HMBS
13pyrrole449.6CPOX, UROD, FECH
14ppix449.5FECH, PPOX, HMBS
15copper44 2410.4FECH, ALAD, CPOX
16salicylic acid44 2810.4CPOX, HMOX1
17uroporphyrin449.4UROD, HMBS, ALAD, CPOX
18zinc protoporphyrin449.4FECH, HMOX1, ALAD
19ethanol44 49 11 2412.3UROD, HMBS, ALAD, CPOX
20s-nitroso-n-acetylpenicillamine449.3HMOX1, FECH
21lead449.2CPOX, ALAD, HMBS, FECH
22deferoxamine44 1110.2FECH, HMOX1
23hydroxymethylbilane44 2410.2FECH, UROD, PPOX, HMBS
24carbon dioxide44 2410.2CPOX, ALAS1, UROD
25superoxide44 249.9FECH, HMOX1, ALAD, CPOX
26vitamin b6448.8FECH, ALAS1
27arginine448.8CPOX, HMOX1, HMBS, PPOX
28uroporphyrinogen-iii448.8FECH, UROD, PPOX, HMBS, CPOX
29histidine448.7ALAS1, HMBS, UROD, FECH
30phenobarbital44 28 1110.7ALAS1, HMOX1, HMBS, UROD
31nitric oxide44 11 2410.6FECH, HMBS, HMOX1, ALAD, CPOX
32protoporphyrinogen448.5FECH, UROD, PPOX, HMBS, ALAD, CPOX
33alanine448.2FECH, HMOX1, ALAS1, CPOX
34protoporphyrin ix44 11 249.9FECH, UROD, PPOX, HMBS, HMOX1, ALAD
35formyl-coa44 248.6FECH, UROD, PPOX, HMBS, ALAS1, ALAD
36porphobilinogen44 11 249.6FECH, UROD, PPOX, HMBS, ALAS1, ALAD
37porphyrin447.6FECH, UROD, PPOX, HMBS, ALAS1, ALAD
38oxygen44 248.6FECH, UROD, PPOX, HMOX1, ALAS1, CPOX
39haem447.4PPOX, HMBS, HMOX1, ALAS1, CPOX, UROD
405-aminolevulinic acid44 248.0CPOX, FECH, UROD, PPOX, HMBS, HMOX1
41heme28 11 249.0HMBS, HMOX1, ALAS1, ALAD, CPOX, PPOX
42iron44 248.0FECH, UROD, PPOX, HMBS, HMOX1, ALAS1

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:

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet