MCID: PRP056
MIFTS: 25

Porphyria, Acute Hepatic malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Porphyria, Acute Hepatic

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 47Orphanet, 32MedlinePlus, 3CDC, 26ICD10 via Orphanet
See all sources

Porphyria, Acute Hepatic, Aliases & Descriptions:

Name: Porphyria, Acute Hepatic 45 10 20
Lead Poisoning 45 47 32 3
 
Lead Intoxication 47
Saturnism 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

47
lead poisoning:
Prevalence: 1-9/100000 (Europe),1-9/1000000 (France); Age of onset: Childhood


External Ids:

OMIM45 612740
Orphanet47 330015
ICD10 via Orphanet26 T56.0

Summaries for Porphyria, Acute Hepatic

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MedlinePlus:32 Lead is a metal that occurs naturally in the earth's crust. lead can be found in all parts of our environment. much of it comes from human activities such as mining and manufacturing. lead used to be in paint; older houses may still have lead paint. you could be exposed to lead by eating food or drinking water that contains lead. water pipes in older homes may contain lead. working in a job where lead is used using lead in a hobby, such as making stained glass or lead-glazed pottery using folk remedies such as herbs or foods that contain lead breathing air, drinking water, eating food, or swallowing or touching dirt that contains lead can cause many health problems. lead can affect almost every organ and system in your body. in adults, lead can increase blood pressure and cause infertility, nerve disorders, and muscle and joint pain. it can also make you irritable and affect your ability to concentrate and remember. lead is especially dangerous for children. a child who swallows large amounts of lead may develop anemia, severe stomachache, muscle weakness, and brain damage. even at low levels, lead can affect a child's mental and physical growth. agency for toxic substances disease registry

MalaCards based summary: Porphyria, Acute Hepatic, also known as lead poisoning, is related to asthma and porphyria, and has symptoms including autosomal recessive inheritance, muscular hypotonia and failure to thrive. An important gene associated with Porphyria, Acute Hepatic is ALAD (aminolevulinate dehydratase). Affiliated tissues include brain.

OMIM:45 ALAD porphyria is a rare autosomal recessive disorder that has been reported and confirmed by genetic analysis in only... (612740) more...

CDC:3 Today at least 4 million households have children living in them that are being exposed to high levels of lead. There are approximately half a million U.S. children ages 1-5 with blood lead levels above 5 micrograms per deciliter (µg/dL), the reference level at which CDC recommends public health actions be initiated.

Related Diseases for Porphyria, Acute Hepatic

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Graphical network of the top 20 diseases related to Porphyria, Acute Hepatic:



Diseases related to porphyria, acute hepatic

Symptoms for Porphyria, Acute Hepatic

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Symptoms by clinical synopsis from OMIM:

612740

Clinical features from OMIM:

612740

HPO human phenotypes related to Porphyria, Acute Hepatic:

(show all 10)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 muscular hypotonia HP:0001252
3 failure to thrive HP:0001508
4 hemolytic anemia HP:0001878
5 vomiting HP:0002013
6 respiratory paralysis HP:0002203
7 elevated urinary delta-aminolevulinic acid HP:0003163
8 paresthesia HP:0003401
9 paralysis HP:0003470
10 abdominal colic HP:0011848

Drugs & Therapeutics for Porphyria, Acute Hepatic

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Drug clinical trials:

Search ClinicalTrials for Porphyria, Acute Hepatic

Search NIH Clinical Center for Porphyria, Acute Hepatic

Genetic Tests for Porphyria, Acute Hepatic

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Genetic tests related to Porphyria, Acute Hepatic:

id Genetic test Affiliating Genes
1 Acute Hepatic Porphyria20 ALAD

Anatomical Context for Porphyria, Acute Hepatic

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MalaCards organs/tissues related to Porphyria, Acute Hepatic:

31
Brain

Animal Models for Porphyria, Acute Hepatic or affiliated genes

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Publications for Porphyria, Acute Hepatic

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Variations for Porphyria, Acute Hepatic

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UniProtKB/Swiss-Prot genetic disease variations for Porphyria, Acute Hepatic:

62
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 Porphyria, Acute Hepatic:

6
id Gene Variation 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 Porphyria, Acute Hepatic

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

Pathways for genes affiliated with Porphyria, Acute Hepatic

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Compounds for genes affiliated with Porphyria, Acute Hepatic

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GO Terms for genes affiliated with Porphyria, Acute Hepatic

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Products for genes affiliated with Porphyria, Acute Hepatic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Porphyria, Acute Hepatic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet