MCID: PRP056
MIFTS: 42

Porphyria, Acute Hepatic

Categories: Genetic diseases, Neuronal diseases, Nephrological diseases, Skin diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Porphyria, Acute Hepatic

MalaCards integrated aliases for Porphyria, Acute Hepatic:

Name: Porphyria, Acute Hepatic 57 13 40
Porphobilinogen Synthase Deficiency 57 75 29 6 73
Lead Poisoning 57 76 59 43 3
Delta-Aminolevulinate Dehydratase Deficiency 57 75
Alad Deficiency 57 75
Doss Porphyria 57 75
Porphyria Due to Delta-Aminolevulinate Dehydratase Deficiency 59
Porphyria Due to Ala Dehydratase Deficiency 59
Aminolevulinate, Delta-, Dehydratase 13
Lead Poisoning, Susceptibility to 57
Porphyria Due to Alad Deficiency 59
Acute Hepatic Porphyria 75
Lead Intoxication 59
Porphyria of Doss 59
Porphyria, Ala-D 76
Porphyria, Alad 57
Alad Porphyria 59
Porphyria Alad 75
Saturnism 59
Plumbism 59
Ahepp 75

Characteristics:

Orphanet epidemiological data:

59
lead poisoning
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/1000000 (France); Age of onset: Childhood;
porphyria due to ala dehydratase deficiency
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
very rare
asymptomatic heterozygotes susceptible to lead toxicity
exacerbation following stress, decreased food intake, or alcohol use


HPO:

32
porphyria, acute hepatic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Porphyria, Acute Hepatic

MedlinePlus : 43 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 porphobilinogen synthase deficiency, is related to coproporphyria, hereditary and aminolevulinic acid dehydratase deficiency porphyria, and has symptoms including vomiting and muscle weakness. An important gene associated with Porphyria, Acute Hepatic is ALAD (Aminolevulinate Dehydratase). Affiliated tissues include brain, liver and skin, and related phenotypes are psychosis and sensory neuropathy

OMIM : 57 ALAD porphyria is a rare autosomal recessive disorder that has been reported and confirmed by genetic analysis in only 5 patients (Jaffe and Stith, 2007). (612740)

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.

UniProtKB/Swiss-Prot : 75 Acute hepatic porphyria: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.

Wikipedia : 76 Lead poisoning is a type of metal poisoning caused by lead in the body. The brain is the most sensitive.... more...

Related Diseases for Porphyria, Acute Hepatic

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



Diseases related to Porphyria, Acute Hepatic

Symptoms & Phenotypes for Porphyria, Acute Hepatic

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle weakness
hypotonia

Abdomen Gastrointestinal:
vomiting
abdominal colic

Neurologic Peripheral Nervous System:
paresthesia
paralysis
neuropathy (motor and sensory)

Laboratory Abnormalities:
erythrocyte delta-aminolevulinate dehydratase (alad) deficiency
elevated urinary delta-aminolevulinic acid and porphyrins

Growth Other:
failure to thrive

Hematology:
hemolytic anemia
porphyria

Respiratory Lung:
respiratory paralysis


Clinical features from OMIM:

612740

Human phenotypes related to Porphyria, Acute Hepatic:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 psychosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000709
2 sensory neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000763
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001269
5 polyneuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001271
6 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
7 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
8 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
9 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
10 motor axonal neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007002
11 behavioral abnormality 59 Very frequent (99-80%)
12 muscular hypotonia 32 HP:0001252
13 generalized hypotonia 32 HP:0001290
14 failure to thrive 32 HP:0001508
15 hemolytic anemia 32 HP:0001878
16 vomiting 32 HP:0002013
17 respiratory paralysis 32 HP:0002203
18 elevated urinary delta-aminolevulinic acid 32 HP:0003163
19 paresthesia 32 HP:0003401
20 abdominal colic 32 HP:0011848

UMLS symptoms related to Porphyria, Acute Hepatic:


vomiting, muscle weakness

Drugs & Therapeutics for Porphyria, Acute Hepatic

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP) Recruiting NCT03338816 Phase 3 Givosiran;Placebo
2 A Study to Investigate the Interaction Between Givosiran and a 5-probe Drug Cocktail in Patients With Acute Intermittent Porphyria (AIP) Recruiting NCT03505853 Phase 1 Givosiran;5-probe cocktail
3 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
4 INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP Recruiting NCT03547297

Search NIH Clinical Center for Porphyria, Acute Hepatic

Genetic Tests for Porphyria, Acute Hepatic

Genetic tests related to Porphyria, Acute Hepatic:

# Genetic test Affiliating Genes
1 Porphobilinogen Synthase Deficiency 29 ALAD

Anatomical Context for Porphyria, Acute Hepatic

MalaCards organs/tissues related to Porphyria, Acute Hepatic:

41
Brain, Liver, Skin, Testes, Eye, Tongue, Kidney

Publications for Porphyria, Acute Hepatic

Articles related to Porphyria, Acute Hepatic:

(show top 50) (show all 553)
# Title Authors Year
1
Folk prescription for treating rhinitis as a rare cause of childhood lead poisoning: a case series. ( 29980188 )
2018
2
A new model of the mechanism underlying lead poisoning: SNPs in miRNA target region influence the I'-aminolevulinic acid dehydratase expression level. ( 28960093 )
2017
3
Lead Poisoning: Myoclonus Following Welding Exposure. ( 29364803 )
2017
4
Lead Poisoning Can Be Easily Misdiagnosed as Acute Porphyria and Nonspecific Abdominal Pain. ( 28630774 )
2017
5
Association between Polymorphism of Exportin-5 and Susceptibility to Lead Poisoning in a Chinese Population. ( 28042866 )
2016
6
Lead poisoning prevention for preschool settings: a program template. ( 25626240 )
2015
7
Using environmental public health tracking to identify community targets for public health actions in childhood lead poisoning in Wisconsin. ( 25621451 )
2015
8
A cluster of lead poisoning among consumers of Ayurvedic medicine. ( 25843124 )
2015
9
Lead poisoning in Nile tilapia (Oreochromis niloticus): oxidant and antioxidant relationship. ( 25732982 )
2015
10
An exploratory analysis to determine priority areas for lead poisoning prevention education programs in Missouri. ( 25796697 )
2015
11
Dysplastic changes in erythroid precursors as a manifestation of lead poisoning: report of a case and review of literature. ( 25755780 )
2015
12
Investigating lead poisoning in children-could surveillance help? ( 25651824 )
2015
13
Lead poisoning and its in vivo biomarkers in Mallard and Coot from two hunting activity areas in Poland. ( 25666052 )
2015
14
Screening for childhood lead poisoning in the industrial region of fez, morocco. ( 25511562 )
2015
15
Peeling Lead Paint Turns Into Poisonous Dust. Guess Where It Ends Up? A Media Campaign to Prevent Childhood Lead Poisoning in New York City. ( 25558876 )
2015
16
Lead poisoning in an infant. ( 24825279 )
2014
17
Congenital lead poisoning: an unusual presentation. ( 24757314 )
2014
18
Lead poisoning in children. ( 25037135 )
2014
19
Lead poisoning mimicking acute porphyria! ( 25653942 )
2014
20
Imagination and public health: the end of lead poisoning in california? ( 25199891 )
2014
21
Primary prevention of lead poisoning: protecting children from unsafe housing. ( 24922160 )
2014
22
Lead poisoning influences TCR-related gene expression patterns in peripheral blood T-lymphocytes of exposed workers. ( 24720682 )
2014
23
Lead poisoning. ( 25220013 )
2014
24
Childhood lead poisoning and the new Centers for Disease Control and Prevention guidelines for lead exposure. ( 24616453 )
2014
25
Ayurvedic Medicine Use and Lead Poisoning in a Child: A Continued Concern in the United States. ( 25305259 )
2014
26
Lead poisoning in children from townships in the vicinity of a lead-zinc mine in Kabwe, Zambia. ( 25303652 )
2014
27
Description of 3,180 Courses of Chelation with Dimercaptosuccinic Acid in Children a8o5 y with Severe Lead Poisoning in Zamfara, Northern Nigeria: A Retrospective Analysis of Programme Data. ( 25291378 )
2014
28
Association of blood lead level with neurological features in 972 children affected by an acute severe lead poisoning outbreak in Zamfara State, northern Nigeria. ( 24740291 )
2014
29
Primary prevention of lead poisoning in children: a cross-sectional study to evaluate state specific lead-based paint risk reduction laws in preventing lead poisoning in children. ( 25380793 )
2014
30
A case of tetraethyl lead poisoning. ( 24706472 )
2014
31
Cascading impacts of anthropogenically driven habitat loss: deforestation, flooding, and possible lead poisoning in howler monkeys (Alouatta pigra). ( 25163777 )
2014
32
A clinical study of the effects of lead poisoning on the intelligence and neurobehavioral abilities of children. ( 23414525 )
2013
33
Imported occupational lead poisoning: report of four cases. ( 24640829 )
2013
34
A systematic review of screening questionnaires for childhood lead poisoning. ( 22668673 )
2013
35
Unconventional firepower: an unexpected source of lead poisoning. ( 22367334 )
2013
36
Indigenous tooth powders = covert lead poisoning? ( 24552926 )
2013
37
Linking geological and health sciences to assess childhood lead poisoning from artisanal gold mining in Nigeria. ( 23524139 )
2013
38
Unrecorded alcohol and lead poisoning. ( 24262744 )
2013
39
Antioxidant and micronutrient-rich milk formula reduces lead poisoning and related oxidative damage in lead-exposed mice. ( 23537597 )
2013
40
Traditional medicine: a rare cause of lead poisoning in Western countries. ( 24555110 )
2013
41
Editorial role of a clinical biochemist in evaluating the impact of lead poisoning. ( 24381413 )
2013
42
Call for an accurate historical account of childhood lead poisoning prevention. ( 23488517 )
2013
43
An ongoing lack of knowledge about lead poisoning. ( 23947313 )
2013
44
Lead poisoning from Ayurvedic medicines. ( 23799386 )
2013
45
Lead poisoning-induced hypertensive crisis managed by prazosin: a case report. ( 24349754 )
2013
46
Manioc flour consumption as a risk factor for lead poisoning in the Brazilian Amazon. ( 23356650 )
2013
47
Eye cosmetic 'surma': hidden threats of lead poisoning. ( 24381425 )
2013
48
Childhood lead poisoning in China: challenges and opportunities. ( 24218672 )
2013
49
Forensic case of lead poisoning from a battery manufacturing company in Nakuru, Kenya. ( 23631156 )
2013
50
Role of chelation in the treatment of lead poisoning: discussion of the Treatment of Lead-Exposed Children Trial (TLC). ( 24178899 )
2013

Variations for Porphyria, Acute Hepatic

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

75
# Symbol AA change Variation ID SNP ID
1 ALAD p.Gly133Arg VAR_003634 rs121912980
2 ALAD p.Arg240Trp VAR_003635 rs121912982
3 ALAD p.Ala274Thr VAR_003636 rs121912983
4 ALAD p.Val275Met VAR_003637 rs121912981
5 ALAD p.Val153Met VAR_020974

ClinVar genetic disease variations for Porphyria, Acute Hepatic:

6
(show top 50) (show all 115)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALAD NM_000031.5(ALAD): c.397G> A (p.Gly133Arg) single nucleotide variant Pathogenic rs121912980 GRCh37 Chromosome 9, 116153078: 116153078
2 ALAD NM_000031.5(ALAD): c.397G> A (p.Gly133Arg) single nucleotide variant Pathogenic rs121912980 GRCh38 Chromosome 9, 113390798: 113390798
3 ALAD NM_000031.5(ALAD): c.823G> A (p.Val275Met) single nucleotide variant Pathogenic rs121912981 GRCh37 Chromosome 9, 116151365: 116151365
4 ALAD NM_000031.5(ALAD): c.823G> A (p.Val275Met) single nucleotide variant Pathogenic rs121912981 GRCh38 Chromosome 9, 113389085: 113389085
5 ALAD NM_000031.5(ALAD): c.820G> A (p.Ala274Thr) single nucleotide variant Pathogenic rs121912983 GRCh37 Chromosome 9, 116151368: 116151368
6 ALAD NM_000031.5(ALAD): c.820G> A (p.Ala274Thr) single nucleotide variant Pathogenic rs121912983 GRCh38 Chromosome 9, 113389088: 113389088
7 ALAD ALAD, IVS3AS, C-A, -11 single nucleotide variant Pathogenic
8 ALAD NM_000031.5(ALAD): c.165-11C> T single nucleotide variant Pathogenic rs749066913 GRCh38 Chromosome 9, 113391634: 113391634
9 ALAD NM_000031.5(ALAD): c.165-11C> T single nucleotide variant Pathogenic rs749066913 GRCh37 Chromosome 9, 116153914: 116153914
10 ALAD NM_000031.5(ALAD): c.*1950G> A single nucleotide variant Benign rs818706 GRCh37 Chromosome 9, 116148630: 116148630
11 ALAD NM_000031.5(ALAD): c.*1950G> A single nucleotide variant Benign rs818706 GRCh38 Chromosome 9, 113386350: 113386350
12 ALAD NM_000031.5(ALAD): c.*1675C> T single nucleotide variant Uncertain significance rs756771103 GRCh37 Chromosome 9, 116148905: 116148905
13 ALAD NM_000031.5(ALAD): c.*1675C> T single nucleotide variant Uncertain significance rs756771103 GRCh38 Chromosome 9, 113386625: 113386625
14 ALAD NM_000031.5(ALAD): c.*871C> A single nucleotide variant Likely benign rs8177822 GRCh37 Chromosome 9, 116149709: 116149709
15 ALAD NM_000031.5(ALAD): c.*871C> A single nucleotide variant Likely benign rs8177822 GRCh38 Chromosome 9, 113387429: 113387429
16 ALAD NM_000031.5(ALAD): c.*471C> T single nucleotide variant Benign rs818708 GRCh37 Chromosome 9, 116150109: 116150109
17 ALAD NM_000031.5(ALAD): c.*471C> T single nucleotide variant Benign rs818708 GRCh38 Chromosome 9, 113387829: 113387829
18 ALAD NM_000031.5(ALAD): c.*400G> A single nucleotide variant Uncertain significance rs557867804 GRCh37 Chromosome 9, 116150180: 116150180
19 ALAD NM_000031.5(ALAD): c.*400G> A single nucleotide variant Uncertain significance rs557867804 GRCh38 Chromosome 9, 113387900: 113387900
20 ALAD NM_000031.5(ALAD): c.463T> C (p.Leu155=) single nucleotide variant Likely benign rs8177807 GRCh37 Chromosome 9, 116152891: 116152891
21 ALAD NM_000031.5(ALAD): c.463T> C (p.Leu155=) single nucleotide variant Likely benign rs8177807 GRCh38 Chromosome 9, 113390611: 113390611
22 ALAD NM_000031.5(ALAD): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance rs752500552 GRCh37 Chromosome 9, 116155839: 116155839
23 ALAD NM_000031.5(ALAD): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance rs752500552 GRCh38 Chromosome 9, 113393559: 113393559
24 ALAD NM_000031.5(ALAD): c.-155C> G single nucleotide variant Likely benign rs7026518 GRCh37 Chromosome 9, 116163571: 116163571
25 ALAD NM_000031.5(ALAD): c.-155C> G single nucleotide variant Likely benign rs7026518 GRCh38 Chromosome 9, 113401291: 113401291
26 ALAD NM_000031.5(ALAD): c.-156_-155dupCC duplication Likely benign rs143518565 GRCh37 Chromosome 9, 116163571: 116163572
27 ALAD NM_000031.5(ALAD): c.-156_-155dupCC duplication Likely benign rs143518565 GRCh38 Chromosome 9, 113401291: 113401292
28 ALAD NM_000031.5(ALAD): c.-197G> T single nucleotide variant Uncertain significance rs376588496 GRCh37 Chromosome 9, 116163613: 116163613
29 ALAD NM_000031.5(ALAD): c.-197G> T single nucleotide variant Uncertain significance rs376588496 GRCh38 Chromosome 9, 113401333: 113401333
30 ALAD NM_000031.5(ALAD): c.*1741G> A single nucleotide variant Uncertain significance rs886063358 GRCh38 Chromosome 9, 113386559: 113386559
31 ALAD NM_000031.5(ALAD): c.*1741G> A single nucleotide variant Uncertain significance rs886063358 GRCh37 Chromosome 9, 116148839: 116148839
32 ALAD NM_000031.5(ALAD): c.*1631G> A single nucleotide variant Uncertain significance rs886063359 GRCh37 Chromosome 9, 116148949: 116148949
33 ALAD NM_000031.5(ALAD): c.*1631G> A single nucleotide variant Uncertain significance rs886063359 GRCh38 Chromosome 9, 113386669: 113386669
34 ALAD NM_000031.5(ALAD): c.*1511T> C single nucleotide variant Uncertain significance rs745513769 GRCh37 Chromosome 9, 116149069: 116149069
35 ALAD NM_000031.5(ALAD): c.*1511T> C single nucleotide variant Uncertain significance rs745513769 GRCh38 Chromosome 9, 113386789: 113386789
36 ALAD NM_000031.5(ALAD): c.*676dupA duplication Uncertain significance rs532401659 GRCh37 Chromosome 9, 116149904: 116149904
37 ALAD NM_000031.5(ALAD): c.*676dupA duplication Uncertain significance rs532401659 GRCh38 Chromosome 9, 113387624: 113387624
38 ALAD NM_000031.5(ALAD): c.*459_*463delGTTGA deletion Uncertain significance rs886063361 GRCh37 Chromosome 9, 116150117: 116150121
39 ALAD NM_000031.5(ALAD): c.*459_*463delGTTGA deletion Uncertain significance rs886063361 GRCh38 Chromosome 9, 113387837: 113387841
40 ALAD NM_000031.5(ALAD): c.*438G> C single nucleotide variant Uncertain significance rs886063362 GRCh37 Chromosome 9, 116150142: 116150142
41 ALAD NM_000031.5(ALAD): c.*438G> C single nucleotide variant Uncertain significance rs886063362 GRCh38 Chromosome 9, 113387862: 113387862
42 ALAD NM_000031.5(ALAD): c.*422G> T single nucleotide variant Uncertain significance rs41276805 GRCh37 Chromosome 9, 116150158: 116150158
43 ALAD NM_000031.5(ALAD): c.*422G> T single nucleotide variant Uncertain significance rs41276805 GRCh38 Chromosome 9, 113387878: 113387878
44 ALAD NM_000031.5(ALAD): c.*127C> T single nucleotide variant Uncertain significance rs561104906 GRCh37 Chromosome 9, 116150453: 116150453
45 ALAD NM_000031.5(ALAD): c.*127C> T single nucleotide variant Uncertain significance rs561104906 GRCh38 Chromosome 9, 113388173: 113388173
46 ALAD NM_000031.5(ALAD): c.940A> G (p.Ile314Val) single nucleotide variant Uncertain significance rs557510313 GRCh38 Chromosome 9, 113388353: 113388353
47 ALAD NM_000031.5(ALAD): c.940A> G (p.Ile314Val) single nucleotide variant Uncertain significance rs557510313 GRCh37 Chromosome 9, 116150633: 116150633
48 ALAD NM_000031.5(ALAD): c.724G> A (p.Val242Ile) single nucleotide variant Uncertain significance rs200180791 GRCh38 Chromosome 9, 113389515: 113389515
49 ALAD NM_000031.5(ALAD): c.724G> A (p.Val242Ile) single nucleotide variant Uncertain significance rs200180791 GRCh37 Chromosome 9, 116151795: 116151795
50 ALAD NM_000031.5(ALAD): c.715-14C> A single nucleotide variant Uncertain significance rs201135240 GRCh38 Chromosome 9, 113389538: 113389538

Expression for Porphyria, Acute Hepatic

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

Pathways for Porphyria, Acute Hepatic

GO Terms for Porphyria, Acute Hepatic

Sources for Porphyria, Acute Hepatic

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