AHEPP
MCID: PRP056
MIFTS: 54

Porphyria, Acute Hepatic (AHEPP)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Porphyria, Acute Hepatic

MalaCards integrated aliases for Porphyria, Acute Hepatic:

Name: Porphyria, Acute Hepatic 57 12 38
Porphobilinogen Synthase Deficiency 57 73 28 5 71
Lead Poisoning 57 58 75 41
Delta-Aminolevulinate Dehydratase Deficiency 57 73
Acute Hepatic Porphyria 58 73
Alad Deficiency 57 73
Doss Porphyria 57 73
Porphyria Due to Delta-Aminolevulinate Dehydratase Deficiency 58
Porphyria Due to Ala Dehydratase Deficiency 58
Lead Poisoning, Susceptibility to 57
Porphyria Due to Alad Deficiency 58
Lead Intoxication 58
Porphyria of Doss 58
Porphyria, Ala-D 75
Porphyria, Alad 57
Alad Porphyria 58
Porphyria Alad 73
Saturnism 58
Plumbism 58
Ahepp 73

Characteristics:


Inheritance:

Porphyria, Acute Hepatic: Autosomal recessive 57
Acute Hepatic Porphyria: Autosomal dominant,Autosomal recessive 58
Porphyria Due to Ala Dehydratase Deficiency: Autosomal recessive 58

Prevelance:

Lead Poisoning: 1-9/100000 (Europe) 1-9/1000000 (France) 58

Age Of Onset:

Lead Poisoning: All ages 58
Acute Hepatic Porphyria: All ages 58
Porphyria Due to Ala Dehydratase Deficiency: Adolescent,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
very rare
asymptomatic heterozygotes susceptible to lead toxicity
exacerbation following stress, decreased food intake, or alcohol use


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Porphyria, Acute Hepatic

MedlinePlus: 41 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 variegate porphyria and harderoporphyria, and has symptoms including muscle weakness and vomiting. An important gene associated with Porphyria, Acute Hepatic is ALAD (Aminolevulinate Dehydratase). The drugs Ethanol and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and brain, and related phenotypes are constipation and hypertension

Orphanet 58 Porphyria due to ala dehydratase deficiency: Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

Lead poisoning: Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.

Acute hepatic porphyria: A rare sub-group of porphyrias characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare).

UniProtKB/Swiss-Prot: 73 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.

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) (Updated 08-Dec-2022)

Wikipedia 75 Lead poisoning: Lead poisoning, also known as plumbism and saturnism, is a type of metal poisoning caused by lead in the... more...

Porphyria, ala-d: Aminolevulinic acid dehydratase deficiency porphyria (also known as "Doss porphyria", "plumboporphyria",... more...

Related Diseases for Porphyria, Acute Hepatic

Diseases in the Porphyria, Acute Hepatic family:

Chronic Hepatic Porphyria

Diseases related to Porphyria, Acute Hepatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 340)
# Related Disease Score Top Affiliating Genes
1 variegate porphyria 11.3
2 harderoporphyria 11.2
3 aminolevulinic acid dehydratase deficiency porphyria 11.2
4 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 11.2
5 hypoaldosteronism 11.0
6 deficiency anemia 10.7
7 pica disease 10.6
8 iron metabolism disease 10.5
9 encephalopathy 10.5
10 hyperphenylalaninemia, bh4-deficient, d 10.5
11 porphyria 10.5
12 hemolytic anemia 10.4
13 porphyria, acute intermittent 10.4
14 neuropathy 10.4
15 acute porphyria 10.4
16 heavy metal poisoning 10.3
17 peripheral nervous system disease 10.3
18 hypoascorbemia 10.2
19 ocular motor apraxia 10.2
20 iron overload 10.2
21 thalassemia 10.2
22 fanconi syndrome 10.2
23 hemosiderosis 10.2
24 gout 10.2
25 neuritis 10.2
26 kidney disease 10.2
27 tyrosinemia, type ii 10.2
28 tyrosinemia, type i 10.2
29 polycythemia 10.2
30 tyrosinemia 10.2
31 microcytic anemia 10.2
32 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
33 chronic kidney disease 10.2
34 children's interstitial lung disease 10.2
35 amyotrophic lateral sclerosis 1 10.1
36 graves disease 1 10.1
37 aspergillosis 10.1
38 meningoencephalitis 10.1
39 iron deficiency anemia 10.1
40 cholestasis 10.1
41 alcohol use disorder 10.1
42 gastroenteritis 10.1
43 acute kidney failure 10.1
44 gastritis 10.1
45 polyneuropathy 10.1
46 alcohol dependence 10.1
47 multiple sclerosis 10.1
48 autism 10.1
49 hemochromatosis, type 1 10.1
50 neurodegeneration with brain iron accumulation 2a 10.1

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



Diseases related to Porphyria, Acute Hepatic

Symptoms & Phenotypes for Porphyria, Acute Hepatic

Human phenotypes related to Porphyria, Acute Hepatic:

58 30 (show top 50) (show all 109)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0002019
2 hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0000822
3 vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002013
4 fatigue 58 30 Frequent (33%) Frequent (79-30%)
HP:0012378
5 abdominal pain 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0002027
6 anorexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002039
7 abdominal distention 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0003270
8 increased urinary porphobilinogen 58 30 Frequent (33%) Frequent (79-30%)
HP:0012217
9 nausea 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0002018
10 purple urine 58 30 Frequent (33%) Frequent (79-30%)
HP:0040322
11 increased erythrocyte protoporphyrin concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0012187
12 increased fecal coproporphyrin 3 58 30 Frequent (33%) Frequent (79-30%)
HP:0033010
13 abnormal erythrocyte enzyme level 30 Frequent (33%) HP:0030272
14 depression 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0000716
15 dysarthria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001260
16 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
17 hallucinations 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000738
18 renal tubular dysfunction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000124
19 intellectual disability, mild 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001256
20 anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001903
21 autism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000717
22 attention deficit hyperactivity disorder 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007018
23 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000739
24 specific learning disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001328
25 delayed eruption of teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000684
26 hyponatremia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002902
27 low levels of vitamin d 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100512
28 insomnia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100785
29 sensory neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000763
30 skin rash 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000988
31 headache 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002315
32 memory impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002354
33 premature birth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001622
34 difficulty walking 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002355
35 distal muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002460
36 ankle flexion contracture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006466
37 limb muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003690
38 diarrhea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002014
39 polyneuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001271
40 small for gestational age 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001518
41 apathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000741
42 poor fine motor coordination 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007010
43 preeclampsia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100602
44 motor polyneuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
Very rare (<4-1%)
HP:0007178
45 agitation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000713
46 myeloproliferative disorder 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005547
47 abdominal cramps 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0032155
48 episodic vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002572
49 fluctuations in consciousness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007159
50 poor gross motor coordination 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007015

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

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

Muscle Soft Tissue:
hypotonia
muscle weakness

Hematology:
hemolytic anemia
porphyria

Respiratory Lung:
respiratory paralysis

Clinical features from OMIM®:

612740 (Updated 08-Dec-2022)

UMLS symptoms related to Porphyria, Acute Hepatic:


muscle weakness; vomiting

Drugs & Therapeutics for Porphyria, Acute Hepatic

Drugs for Porphyria, Acute Hepatic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2 Pharmaceutical Solutions Phase 4
3
Losartan Approved Phase 1 114798-26-4 3961
4
Caffeine Approved Phase 1 58-08-2 2519
5
Esomeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6, 119141-88-7 9568614 4594
6
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
7
Dextromethorphan Approved Phase 1 125-71-3 5362449 5360696
8
Edetate calcium disodium anhydrous Approved, Vet_approved 62-33-9, 60-00-4 6049
9
Pentetic acid Approved 67-43-6
10
Dimercaptosuccinic acid Approved, Experimental 304-55-2, 2418-14-6 9354
11
Ferrous fumarate Approved 141-01-5
12
Zinc cation Approved, Experimental, Investigational 7440-66-6, 23713-49-7 32051
13
Zinc oxide Approved 1314-13-2
14
Iodine Approved, Investigational 7553-56-2 807
15
Iron Approved 7439-89-6 29936
16
Aminolevulinic acid Approved 106-60-5 137
17
Cholecalciferol Approved, Nutraceutical, Vet_approved 67-97-0, 1406-16-2 5280795 10883523
18
Cadexomer iodine Experimental 94820-09-4
19 Calcium, Dietary
20 Radiation-Protective Agents
21 Trace Elements
22 Micronutrients
23 Sunscreening Agents
24 Vitamins
25 Calciferol
26 Adrenergic Agents
27 Dermatologic Agents
28 Photosensitizing Agents
29
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Effectiveness of the Homeopathic Preparation Plumbum Metallicum in Decreasing Blood Levels in Exposed Workers. Completed NCT00931905 Phase 4 Homeopathic medication Plumbum metallicum
2 ENVISION: A Phase 3 Randomized, Double-blind, Placebo-Controlled Multicenter Study With an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients With Acute Hepatic Porphyrias Completed NCT03338816 Phase 3 Givosiran;Placebo
3 A Phase 2/3 Trial of d-Penicillamine Chelation in Lead-Poisoned Children Withdrawn NCT00552630 Phase 2, Phase 3 placebo
4 A Drug-Drug Interaction Study to Investigate the Effect of Givosiran on the Pharmacokinetics (PK) of Midazolam, Caffeine, Losartan, Omeprazole, and Dextromethorphan in Patients With Acute Intermittent Porphyria (AIP) Who Are Asymptomatic High Excreters (ASHE) Completed NCT03505853 Phase 1 Givosiran;5-probe cocktail
5 Environmental Exposure to Lead and Its Health Effects on Patients With Maintenance Hemodialysis Unknown status NCT00926406 lead chelation therapy
6 Plan for Testing Fingerstick Bloods on Magellan Systems Unknown status NCT03256383
7 The Combined Effect of 2,3-Dimercaptosuccinic Acid and Multi-Nutrients on Children in Lead Poisoning Completed NCT00374894 2,3-dimercaptosuccinic acid
8 Lead Mobilization & Bone Turnover in Pregnancy/Lactation Completed NCT00011726
9 Effects of Iron and Zinc Supplementation on Neuropsychological and Educational Achievement in Lead-exposed School Children Completed NCT02346188
10 Lead, Endocrine Disruption and Reproductive Outcomes Completed NCT00023101
11 Human Sperm Zona Acceptor: Environmental Effects Completed NCT00012480
12 Social Network Based Intervention to Reduce Lead Exposure Among Native American Children Completed NCT00011661
13 Does Lead Burden Alter Neuropsychological Development? Completed NCT00000104
14 Environmental Contaminants and Infant Development Completed NCT00013858
15 Early Exposure to Lead and Adult Antisocial Outcomes Completed NCT00285610
16 Identifying Residential Hazards Using Home Test Kits Completed NCT00285532
17 Exposure, Dose, Body Burden and Health Effects of Lead Completed NCT00013819
18 Bone Lead Levels and College Achievement Scores Completed NCT00014885
19 Early Exposure to Lead and Adolescent Development Completed NCT00011674
20 Randomized Study of Succimer (Dimercaptosuccinic Acid) on Growth of Lead-Poisoned Children Completed NCT00004838 succimer
21 Dietary Patterns and Variability in Blood Lead Concentrations Among Pregnant British Women Completed NCT03408275
22 Interactions of Lead Intoxication and Iron Deficiency in Morocco: The Effects of Iron Fortification With and Without NaEDTA on Lead Burden, Iron Status and Cognition in Children Completed NCT01573013
23 Child Healthcare Excellence Center - A University-Practice-Public Partnership (CHEC-UPPP) Completed NCT01739166
24 A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks Completed NCT02240784
25 Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria Completed NCT03906214
26 Vitamin D Deficiency, Iodine Deficiency and Lead Levels in Haitian Infants and Children. Completed NCT02301520
27 RECLEAN Pilot Study: Reducing Lead in the Homes of Construction Workers Recruiting NCT04498845
28 ELEVATE, a Global Observational Longitudinal Prospective Registry of Patients With Acute Hepatic Porphyria (AHP) Recruiting NCT04883905
29 Estimating the Frequency and Neuro-Hormonal Characteristics of Acute Hepatic Porphyria in Postural Tachycardia Syndrome Recruiting NCT05344599
30 Evaluation of the Impact of a Personal and Domestic Hygiene Intervention on Lead Exposure in a Community Close to a Mine Dump Enrolling by invitation NCT05265572
31 Effectiveness of Various Environmental Measures to Eliminate the Risks of Lead Exposure in Infant Lead Poisoning Not yet recruiting NCT03640143
32 Prevalence of Acute Hepatic Porphyria in Population With Suggestive Clinical Picture Not yet recruiting NCT04923516
33 Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria (AHP) No longer available NCT04056481 Givosiran
34 INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP Terminated 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 28 ALAD

Anatomical Context for Porphyria, Acute Hepatic

Organs/tissues related to Porphyria, Acute Hepatic:

MalaCards : Liver, Skin, Brain, Bone Marrow, Bone, Kidney, Whole Blood
ODiseA: Blood And Bone Marrow

Publications for Porphyria, Acute Hepatic

Articles related to Porphyria, Acute Hepatic:

(show top 50) (show all 6331)
# Title Authors PMID Year
1
The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. 62 57 5
15303011 2004
2
Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria. 62 57 5
1569184 1992
3
Hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes. 62 57 5
1905639 1991
4
Enzymatic defect in a child with hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: immunochemical studies. 62 57 5
3684400 1987
5
New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation. 62 57 5
513604 1979
6
delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. 57 5
2063868 1991
7
ALAD porphyria is a conformational disease. 62 57
17236137 2007
8
delta-Aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency. 62 57
3780034 1986
9
Instability of hematin used in the treatment of acute hepatic porphyria. 62 57
3724815 1986
10
Lead poisoning in inherited delta-aminolevulinic acid dehydratase deficiency. 62 57
6427116 1984
11
Acute lead poisoning in inherited porphobilinogen synthase (delta-aminolevulinic acid dehydrase) deficiency. 62 57
7104498 1982
12
New type of acute porphyria with porphobilinogen synthase (delta-aminolevulinic acid dehydratase) defect in the homozygous state. 62 57
7067077 1982
13
Hereditary prophobilinogen synthase deficiency in human associated with acute hepatic porphyria. 62 57
7287003 1981
14
Acute hepatic porphyria syndrome with porphobilinogen synthase defect. 62 57
7450139 1980
15
Inherited deficiency of delta-aminolevulinic acid dehydratase. 62 57
517518 1979
16
Biochemical diagnosis of an hereditary aminolaevulinate dehydratase deficiency in a 63-year-old man. 57
2600550 1989
17
Aminolaevulinate dehydratase porphyria in infancy. A clinical and biochemical study. 57
3559484 1987
18
Hereditary hepatic porphyria with delta aminolevulinate dehydrase deficiency: immunologic characterization of the non-catalytic enzyme. 57
3882553 1985
19
Porphobilinogen-synthase (delta-aminolevulinic acid dehydratase) deficiency in bone marrow cells of two patients with porphobilinogen-synthase defect acute porphyria. 57
6887758 1983
20
Effect of lead on -aminolevulinic acid dehydrase activity in red blood cells. 57
4109097 1971
21
Blood lead levels in 2018/2019 compared to 1987/1988 in the German population-based KORA study. 41
36041540 2022
22
'As safe as houses; the risk of childhood lead exposure from housing in England and implications for public health'. 41
36352379 2022
23
Implications for food safety of the size and location of fragments of lead shotgun pellets embedded in hunted carcasses of small game animals intended for human consumption. 41
35994440 2022
24
A comprehensive review of the heavy metal issues regarding commercial vanadium‑titanium-based SCR catalyst. 62
36302402 2023
25
Lead Levels in Spices From Market Basket and Home Lead Investigation Samples in North Carolina. 62
35060792 2023
26
Assessing the effect of four types of direct mail messages to promote the uptake of residential lead remediation funds. 62
36203491 2022
27
Narrative review of lead poisoning in humans caused by industrial activities and measures compatible with sustainable industrial activities in Republic of Zambia. 62
35961390 2022
28
Childhood Lead Poisoning 1970-2022: Charting Progress and Needed Reforms. 62
36442070 2022
29
Imported Ayurvedic Medicine and Lead Poisoning. 62
35342137 2022
30
Chronic lead exposure disrupts neurometabolic activity in mouse brain: An ex vivo1H-[13C]-NMR study. 62
36368548 2022
31
ALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias. 62
36241173 2022
32
Prevalence of Undiagnosed Acute Hepatic Porphyria in Cyclic Vomiting Syndrome and Overlap in Clinical Symptoms. 62
36380150 2022
33
Lead in traditional and complementary medicine: a systematic review. 62
36322973 2022
34
Biomimetic Antidote Nanoparticles: a Novel Strategy for Chronic Heavy Metal Poisoning. 62
36451071 2022
35
Spatiotemporal variation in the blood lead levels of Chinese children with the environmental Kuznets curve trend. 62
36425413 2022
36
Glutamine Is a Superior Protector Against Lead-Induced Hepatotoxicity in Rats via Antioxidant, Anti-inflammatory, and Chelating Properties. 62
35478087 2022
37
Realizing the promise of long-acting antiretroviral treatment strategies for individuals with HIV and adherence challenges: an illustrative case series. 62
36435793 2022
38
Evaluation of blood lead levels in opium addicts and healthy control group using novel deep eutectic solvent based dispersive liquid-liquid microextraction followed by GFAAS. 62
36344888 2022
39
EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms. 62
36069414 2022
40
Molecular mechanisms of mechanical function changes of the rat myocardium under subchronic lead exposure. 62
36179994 2022
41
Profile of Selected Mineral Elements in Tibiotarsal Bone of the White-Tailed Sea Eagle in Its Natural Habitat. 62
36290130 2022
42
Influence of Parameters and Performance Evaluation of 3D-Printed Tungsten Mixed Filament Shields. 62
36297879 2022
43
Retained bullets and lead toxicity: a systematic review. 62
36074021 2022
44
Small interfering RNA: Discovery, pharmacology and clinical development-An introductory review. 62
36250252 2022
45
Estimation of blood lead levels in the French population using two complementary approaches: Esteban (2014-2016) as part of the human biomonitoring program and the national surveillance system for childhood lead poisoning (2015-2018). 62
35679905 2022
46
Lead poisoning of backyard chickens: Implications for urban gardening and food production. 62
35863713 2022
47
Identifying the origin of lead poisoning in white-backed vulture (Gyps africanus) chicks at an important South African breeding colony: a stable lead isotope approach. 62
36166116 2022
48
A Historical Perspective on the CDC Childhood Lead Poisoning Prevention Program. 62
36179298 2022
49
Fabrication of 2D nanosheet sorbents through metastable emulsion droplets and subsequent two-step grafting polymerization for efficient blood lead removal in vitro. 62
35816801 2022
50
Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran. 62
35929959 2022

Variations for Porphyria, Acute Hepatic

ClinVar genetic disease variations for Porphyria, Acute Hepatic:

5 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALAD NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) SNV Pathogenic
16862 rs121912980 GRCh37: 9:116153078-116153078
GRCh38: 9:113390798-113390798
2 ALAD NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) SNV Pathogenic
16865 rs121912982 GRCh37: 9:116151801-116151801
GRCh38: 9:113389521-113389521
3 ALAD NM_000031.6(ALAD):c.820G>A (p.Ala274Thr) SNV Pathogenic
16866 rs121912983 GRCh37: 9:116151368-116151368
GRCh38: 9:113389088-113389088
4 ALAD NM_000031.6(ALAD):c.165-11C>A SNV Pathogenic
16868 GRCh37: 9:116153914-116153914
GRCh38: 9:113391634-113391634
5 ALAD NM_000031.6(ALAD):c.165-11C>T SNV Pathogenic
16869 rs749066913 GRCh37: 9:116153914-116153914
GRCh38: 9:113391634-113391634
6 ALAD NM_000031.6(ALAD):c.823G>A (p.Val275Met) SNV Pathogenic
16863 rs121912981 GRCh37: 9:116151365-116151365
GRCh38: 9:113389085-113389085
7 ALAD NM_000031.6(ALAD):c.*760T>C SNV Uncertain Significance
915040 rs1827430851 GRCh37: 9:116149820-116149820
GRCh38: 9:113387540-113387540
8 ALAD NM_000031.6(ALAD):c.715-14C>A SNV Uncertain Significance
364644 rs201135240 GRCh37: 9:116151818-116151818
GRCh38: 9:113389538-113389538
9 ALAD NM_000031.6(ALAD):c.931+15G>A SNV Uncertain Significance
364641 rs886063364 GRCh37: 9:116151242-116151242
GRCh38: 9:113388962-113388962
10 ALAD NM_000031.6(ALAD):c.*1322G>A SNV Uncertain Significance
914516 rs11789221 GRCh37: 9:116149258-116149258
GRCh38: 9:113386978-113386978
11 ALAD NM_000031.6(ALAD):c.*1280G>C SNV Uncertain Significance
915035 rs190137021 GRCh37: 9:116149300-116149300
GRCh38: 9:113387020-113387020
12 ALAD NM_000031.6(ALAD):c.*1280G>A SNV Uncertain Significance
915036 rs190137021 GRCh37: 9:116149300-116149300
GRCh38: 9:113387020-113387020
13 ALAD NM_000031.6(ALAD):c.*1007G>A SNV Uncertain Significance
915037 rs8177823 GRCh37: 9:116149573-116149573
GRCh38: 9:113387293-113387293
14 ALAD NM_000031.6(ALAD):c.*920C>T SNV Uncertain Significance
915038 rs1827424865 GRCh37: 9:116149660-116149660
GRCh38: 9:113387380-113387380
15 ALAD NM_000031.6(ALAD):c.474C>G (p.Ala158=) SNV Uncertain Significance
915073 rs1340298448 GRCh37: 9:116152880-116152880
GRCh38: 9:113390600-113390600
16 ALAD NM_000031.6(ALAD):c.874G>A (p.Gly292Arg) SNV Uncertain Significance
1033602 rs200781693 GRCh37: 9:116151314-116151314
GRCh38: 9:113389034-113389034
17 ALAD NM_000031.6(ALAD):c.724G>A (p.Val242Ile) SNV Uncertain Significance
364643 rs200180791 GRCh37: 9:116151795-116151795
GRCh38: 9:113389515-113389515
18 ALAD NM_000031.6(ALAD):c.715G>A (p.Asp239Asn) SNV Uncertain Significance
646872 rs752186527 GRCh37: 9:116151804-116151804
GRCh38: 9:113389524-113389524
19 ALAD NM_000031.6(ALAD):c.*127C>T SNV Uncertain Significance
364638 rs561104906 GRCh37: 9:116150453-116150453
GRCh38: 9:113388173-113388173
20 ALAD NM_000031.6(ALAD):c.501G>A (p.Pro167=) SNV Uncertain Significance
364647 rs376714503 GRCh37: 9:116152754-116152754
GRCh38: 9:113390474-113390474
21 ALAD NM_000031.6(ALAD):c.*1464A>G SNV Uncertain Significance
364627 rs559359572 GRCh37: 9:116149116-116149116
GRCh38: 9:113386836-113386836
22 ALAD NM_000031.6(ALAD):c.*676dup DUP Uncertain Significance
364630 rs532401659 GRCh37: 9:116149903-116149904
GRCh38: 9:113387623-113387624
23 ALAD NM_000031.6(ALAD):c.*1915del DEL Uncertain Significance
364619 rs886063356 GRCh37: 9:116148665-116148665
GRCh38: 9:113386385-113386385
24 ALAD NM_000031.6(ALAD):c.*459_*463del DEL Uncertain Significance
364633 rs886063361 GRCh37: 9:116150117-116150121
GRCh38: 9:113387837-113387841
25 ALAD NM_000031.6(ALAD):c.*1787A>C SNV Uncertain Significance
913401 rs1588080129 GRCh37: 9:116148793-116148793
GRCh38: 9:113386513-113386513
26 ALAD NM_000031.6(ALAD):c.*363G>A SNV Uncertain Significance
913437 rs576008526 GRCh37: 9:116150217-116150217
GRCh38: 9:113387937-113387937
27 ALAD NM_000031.6(ALAD):c.*234G>A SNV Uncertain Significance
913439 rs1023159630 GRCh37: 9:116150346-116150346
GRCh38: 9:113388066-113388066
28 ALAD NM_000031.6(ALAD):c.*12C>T SNV Uncertain Significance
913440 rs1827462434 GRCh37: 9:116150568-116150568
GRCh38: 9:113388288-113388288
29 ALAD NM_000031.6(ALAD):c.-70G>T SNV Uncertain Significance
913490 rs774433320 GRCh37: 9:116155909-116155909
GRCh38: 9:113393629-113393629
30 ALAD NM_000031.6(ALAD):c.910A>G (p.Met304Val) SNV Uncertain Significance
913817 rs1588081960 GRCh37: 9:116151278-116151278
GRCh38: 9:113388998-113388998
31 ALAD NM_000031.6(ALAD):c.870G>A (p.Gln290=) SNV Uncertain Significance
913818 rs759917153 GRCh37: 9:116151318-116151318
GRCh38: 9:113389038-113389038
32 ALAD NM_000031.6(ALAD):c.801+14C>T SNV Uncertain Significance
913819 rs369933664 GRCh37: 9:116151704-116151704
GRCh38: 9:113389424-113389424
33 ALAD NM_000031.6(ALAD):c.784C>T (p.Arg262Trp) SNV Uncertain Significance
546208 rs777485356 GRCh37: 9:116151735-116151735
GRCh38: 9:113389455-113389455
34 ALAD NM_000031.6(ALAD):c.770A>G (p.Tyr257Cys) SNV Uncertain Significance
913820 rs769181980 GRCh37: 9:116151749-116151749
GRCh38: 9:113389469-113389469
35 ALAD NM_000031.6(ALAD):c.-75-11A>G SNV Uncertain Significance
913865 rs187909805 GRCh37: 9:116155925-116155925
GRCh38: 9:113393645-113393645
36 ALAD NM_000031.6(ALAD):c.*1671A>T SNV Uncertain Significance
914513 rs1827403039 GRCh37: 9:116148909-116148909
GRCh38: 9:113386629-113386629
37 ALAD NM_000031.6(ALAD):c.-76+15G>T SNV Uncertain Significance
364659 rs756965057 GRCh37: 9:116163477-116163477
GRCh38: 9:113401197-113401197
38 ALAD NM_000031.6(ALAD):c.940A>G (p.Ile314Val) SNV Uncertain Significance
364640 rs557510313 GRCh37: 9:116150633-116150633
GRCh38: 9:113388353-113388353
39 ALAD NM_000031.6(ALAD):c.*1864A>C SNV Uncertain Significance
364620 rs886063357 GRCh37: 9:116148716-116148716
GRCh38: 9:113386436-113386436
40 ALAD NM_000031.6(ALAD):c.*381G>A SNV Uncertain Significance
364637 rs886063363 GRCh37: 9:116150199-116150199
GRCh38: 9:113387919-113387919
41 ALAD NM_000031.6(ALAD):c.439C>T (p.Arg147Cys) SNV Uncertain Significance
364649 rs777664535 GRCh37: 9:116152915-116152915
GRCh38: 9:113390635-113390635
42 ALAD NM_000031.6(ALAD):c.521G>A (p.Arg174His) SNV Uncertain Significance
364646 rs750462706 GRCh37: 9:116152734-116152734
GRCh38: 9:113390454-113390454
43 ALAD NM_000031.6(ALAD):c.1A>G (p.Met1Val) SNV Uncertain Significance
364657 rs752500552 GRCh37: 9:116155839-116155839
GRCh38: 9:113393559-113393559
44 ALAD NM_000031.6(ALAD):c.264C>T (p.Asp88=) SNV Uncertain Significance
364652 rs377534006 GRCh37: 9:116153211-116153211
GRCh38: 9:113390931-113390931
45 ALAD NM_000031.6(ALAD):c.*422G>T SNV Uncertain Significance
364635 rs41276805 GRCh37: 9:116150158-116150158
GRCh38: 9:113387878-113387878
46 ALAD NM_000031.6(ALAD):c.*1470G>A SNV Uncertain Significance
364626 rs886063360 GRCh37: 9:116149110-116149110
GRCh38: 9:113386830-113386830
47 ALAD NM_000031.6(ALAD):c.*1675C>T SNV Uncertain Significance
364623 rs756771103 GRCh37: 9:116148905-116148905
GRCh38: 9:113386625-113386625
48 ALAD NM_000031.6(ALAD):c.*1631G>A SNV Uncertain Significance
364624 rs886063359 GRCh37: 9:116148949-116148949
GRCh38: 9:113386669-113386669
49 ALAD NM_000031.6(ALAD):c.16G>A (p.Val6Ile) SNV Uncertain Significance
364655 rs766501537 GRCh37: 9:116155824-116155824
GRCh38: 9:113393544-113393544
50 ALAD NM_000031.6(ALAD):c.*106C>G SNV Uncertain Significance
364639 rs8177820 GRCh37: 9:116150474-116150474
GRCh38: 9:113388194-113388194

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

73
# 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 rs1554740221

Expression for Porphyria, Acute Hepatic

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Pathways for Porphyria, Acute Hepatic

GO Terms for Porphyria, Acute Hepatic

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