AHEPP
MCID: PRP056
MIFTS: 37

Porphyria, Acute Hepatic (AHEPP) malady

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

Aliases & Classifications for Porphyria, Acute Hepatic

Aliases & Descriptions for Porphyria, Acute Hepatic:

Name: Porphyria, Acute Hepatic 54 13
Porphobilinogen Synthase Deficiency 24 66 29 69
Lead Poisoning 54 56 41 3
Delta-Aminolevulinate Dehydratase Deficiency 24 66
Acute Hepatic Porphyria 24 66
Porphyria Due to Delta-Aminolevulinate Dehydratase Deficiency 56
Porphyria Due to Ala Dehydratase Deficiency 56
Aminolevulinate, Delta-, Dehydratase 13
Porphyria Due to Alad Deficiency 56
Lead Intoxication 56
Porphyria of Doss 56
Alad Deficiency 66
Alad Porphyria 56
Doss Porphyria 66
Porphyria Alad 66
Saturnism 56
Plumbism 56
Ahepp 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
porphyria, acute hepatic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 612740
ICD10 via Orphanet 34 T56.0 E80.2
MeSH 42 D017094

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 coproporphyria and porphyria variegata, and has symptoms including constipation, seizures and abdominal pain. An important gene associated with Porphyria, Acute Hepatic is ALAD (Aminolevulinate Dehydratase). The drugs Ethanol and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and skin.

OMIM : 54 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.

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Porphyria, Acute Hepatic

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

(show all 11)
id Related Disease Score Top Affiliating Genes
1 coproporphyria 11.3
2 porphyria variegata 11.0
3 porphyria, acute intermittent 11.0
4 anemia, hemolytic, due to umph1 deficiency 10.8
5 hypoaldosteronism 10.7
6 renal cell carcinoma 9.9
7 factitious disorder 9.9
8 hepatitis 9.7
9 porphyria 9.7
10 deficiency anemia 9.5
11 iron deficiency anemia 9.5

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 by clinical synopsis from OMIM:

612740

Clinical features from OMIM:

612740

Human phenotypes related to Porphyria, Acute Hepatic:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Very frequent (99-80%) HP:0002019
2 seizures 56 32 Occasional (29-5%) HP:0001250
3 abdominal pain 56 32 Very frequent (99-80%) HP:0002027
4 diarrhea 56 32 Very frequent (99-80%) HP:0002014
5 hemiparesis 56 32 Occasional (29-5%) HP:0001269
6 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
7 sensory neuropathy 56 32 Occasional (29-5%) HP:0000763
8 psychosis 56 32 Very frequent (99-80%) HP:0000709
9 polyneuropathy 56 32 Very frequent (99-80%) HP:0001271
10 motor axonal neuropathy 56 32 Occasional (29-5%) HP:0007002
11 vomiting 32 HP:0002013
12 muscular hypotonia 32 HP:0001252
13 failure to thrive 32 HP:0001508
14 behavioral abnormality 56 Very frequent (99-80%)
15 hemolytic anemia 32 HP:0001878
16 paresthesia 32 HP:0003401
17 respiratory paralysis 32 HP:0002203
18 elevated urinary delta-aminolevulinic acid 32 HP:0003163
19 abdominal colic 32 HP:0011848

UMLS symptoms related to Porphyria, Acute Hepatic:


vomiting, muscle weakness

Drugs & Therapeutics for Porphyria, Acute Hepatic

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

(show top 50) (show all 122)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
3
Thiamine Approved, Nutraceutical, Vet_approved Phase 4 59-43-8 1130
4 Anti-Infective Agents Phase 4,Phase 3,Phase 2
5 Anti-Infective Agents, Local Phase 4
6 Central Nervous System Depressants Phase 4,Phase 1
7 Pharmaceutical Solutions Phase 4
8 Micronutrients Phase 4
9 Trace Elements Phase 4
10 Vitamins Phase 4
11 Vitamin B Complex Phase 4
12 Folate Nutraceutical Phase 4
13 Thiamin Nutraceutical Phase 4
14 Vitamin B9 Nutraceutical Phase 4
15
Edetic Acid Approved, Vet_approved Phase 3 60-00-4, 62-33-9 6049
16
Succimer Approved Phase 3,Phase 1,Phase 2 304-55-2 9354
17
Benzocaine Approved Phase 2, Phase 3 1994-09-7, 94-09-7 2337
18
Rocuronium Approved Phase 2, Phase 3 119302-91-9, 143558-00-3 441290
19
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
20
Tolvaptan Approved Phase 3 150683-30-0 216237
21
Iron Approved Phase 3 7439-89-6 23925
22
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
23 tannic acid Approved, Nutraceutical Phase 2, Phase 3
24
Inulin Approved, Nutraceutical Phase 3 9005-80-5 24763
25 Antidotes Phase 3,Phase 2,Phase 1
26 Chelating Agents Phase 3,Phase 2,Phase 1
27 Protective Agents Phase 3,Phase 2,Phase 1
28 Peripheral Nervous System Agents Phase 2, Phase 3,Phase 1
29 Calcium, Dietary Phase 3
30 Pentetic Acid Phase 3
31 Antiviral Agents Phase 3
32 Neuromuscular Agents Phase 2, Phase 3
33 Neuromuscular Blocking Agents Phase 2, Phase 3
34 Neuromuscular Nondepolarizing Agents Phase 2, Phase 3
35 diuretics Phase 3
36 Natriuretic Agents Phase 3
37 Arginine Vasopressin Phase 3
38 Hormones Phase 3
39 Vasopressins Phase 3
40 Bone Density Conservation Agents Phase 3
41 Iron Chelating Agents Phase 3
42 Anticoagulants Phase 3
43 Anti-HIV Agents Phase 3
44 Anti-Retroviral Agents Phase 3
45 Cytochrome P-450 CYP2C9 Inhibitors Phase 3
46 Cytochrome P-450 CYP3A Inducers Phase 3
47 Cytochrome P-450 Enzyme Inhibitors Phase 3
48 Efavirenz, Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 3
49 HIV Integrase Inhibitors Phase 3
50 Integrase Inhibitors Phase 3

Interventional clinical trials:

(show top 50) (show all 59)
id Name Status NCT ID Phase
1 Homeopathic Preparation Plumbum Metallicum for Lead Poisoning Completed NCT00931905 Phase 4
2 Optimum Thiamine Intervention (OpTIn) Trial Recruiting NCT02788552 Phase 4
3 Treatment of Lead-Exposed Children Trial Completed NCT00342849 Phase 3
4 A Pilot Study Using Rocuronium to Prevent Intermediate Syndrome After Organophosphorus Insecticide Poisoning Completed NCT02147054 Phase 2, Phase 3
5 Transfusion-requirements in Septic Shock Trial Completed NCT01485315 Phase 3
6 “SALT Trial” Study of Ascending Levels of Tolvaptan in Hyponatremia Completed NCT00072683 Phase 3
7 Designing a Bayesian Model of the Plasma Clearance of Calcium Edetate de Sodium for the Calculation of GFR and Validity Compared to the Renal Clearance of Inulin Recruiting NCT02300376 Phase 3
8 Advanced Neuroimaging Evaluation of the Central Nervous System Biological Changes Associated With Efavirenz Therapy Switch to an Raltegravir-based Regimen Active, not recruiting NCT01978743 Phase 3
9 Penicillamine Chelation for Children With Lead Poisoning Withdrawn NCT00552630 Phase 2, Phase 3
10 Dimercaptosuccinic Acid (DMSA) Treatment of Children With Autism and Heavy Metal Toxicity Completed NCT00811083 Phase 1, Phase 2
11 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2
12 Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria Recruiting NCT02180412 Phase 2
13 Panhematin for Prevention of Acute Attacks of Porphyria Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
14 A Study to Evaluate Long-term Safety and Clinical Activity of ALN-AS1 in Patient With Acute Intermittent Porphyria (AIP) Enrolling by invitation NCT02949830 Phase 1, Phase 2
15 Sodium Thiosulfate to Preserve Cardiac Function in STEMI Not yet recruiting NCT02899364 Phase 2
16 Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy Completed NCT00346853 Phase 1
17 Botulism Antitoxin Effects on Paralysis Induced by Botulinum Neurotoxins in the EDB Muscle Completed NCT00636519 Phase 1
18 Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
19 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1
20 A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP) Recruiting NCT02452372 Phase 1
21 Environmental Exposure to Lead and Its Health Effects on Patients With Maintenance Hemodialysis Unknown status NCT00926406
22 Kansas City Community Environmental Remediation And Training (KC CERT) Unknown status NCT00144443
23 Carbon Monoxide Monitoring and Emergency Treatment Unknown status NCT00841165
24 Mechanisms of N-acetylcysteine Mediated Vascular Adverse Effects Unknown status NCT01209455
25 Observational Study of Sepsis and Pneumonia to Develop Diagnostic Tests Unknown status NCT00258869
26 The Combined Effect of 2,3-Dimercaptosuccinic Acid and Multi-Nutrients on Children in Lead Poisoning Completed NCT00374894
27 Iron Fortification Trail Using NaFeEDTA in Iron Deficient Lead-exposed Children Completed NCT01573013
28 Social Network Based Intervention to Reduce Lead Exposure Among Native American Children Completed NCT00011661
29 Randomized Study of Succimer (Dimercaptosuccinic Acid) on Growth of Lead-Poisoned Children Completed NCT00004838
30 Exposure, Dose, Body Burden and Health Effects of Lead Completed NCT00013819
31 Effects of Iron and/or Zinc Supplementation in Mexican School Children Exposed to Lead Completed NCT02346188
32 Early Exposure to Lead and Adult Antisocial Outcomes Completed NCT00285610
33 Does Lead Burden Alter Neuropsychological Development? Completed NCT00000104
34 Bone Lead Levels and College Achievement Scores Completed NCT00014885
35 Lead Mobilization & Bone Turnover in Pregnancy/Lactation Completed NCT00011726
36 Early Exposure to Lead and Adolescent Development Completed NCT00011674
37 Lead, Endocrine Disruption and Reproductive Outcomes Completed NCT00023101
38 Environmental Contaminants and Infant Development Completed NCT00013858
39 Vitamin D, Iodine, and Lead Levels in Haitian Infants and Children. Completed NCT02301520
40 Identifying Residential Hazards Using Home Test Kits Completed NCT00285532
41 QI Study of a Practice Facilitator's Impact in Working With Clinics on Improving Dental, Lead & Obesity Measures for Children Completed NCT01739166
42 Effect of Environmental Exposures on the Egg Fertilizing Ability of Human Sperm Completed NCT00012480
43 External Lid Loading for the Temporary Treatment of the Paresis of the M. Orbicularis Oculi: a Clinical Note Completed NCT01274689
44 High-selenium Lentils Versus Arsenic Toxicity Completed NCT02429921
45 A Case-Cohort Study of Hematopoietic Malignancies and Related Disorders and Lung Cancer in Benzene-Exposed Workers in China Completed NCT00559065
46 Blister Packaging Medication to Increase Treatment Adherence and Clinical Response Completed NCT01118208
47 Diagnosis of Neglected Tropical Diseases Among Patients With Persistent Digestive Disorders Completed NCT02105714
48 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
49 Reducing Diagnostic Errors in Primary Care Pediatrics (Project RedDE) Recruiting NCT02798354
50 Genetic Susceptibility to Severe Streptococcal Infections Recruiting NCT01911572

Search NIH Clinical Center for Porphyria, Acute Hepatic

Genetic Tests for Porphyria, Acute Hepatic

Genetic tests related to Porphyria, Acute Hepatic:

id Genetic test Affiliating Genes
1 Porphobilinogen Synthase Deficiency 29
2 Acute Hepatic Porphyria 24 ALAD

Anatomical Context for Porphyria, Acute Hepatic

MalaCards organs/tissues related to Porphyria, Acute Hepatic:

39
Liver, Brain, Skin

Publications for Porphyria, Acute Hepatic

Variations for Porphyria, Acute Hepatic

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

66
id 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
id 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.823G> A (p.Val275Met) single nucleotide variant Pathogenic rs121912981 GRCh37 Chromosome 9, 116151365: 116151365
3 ALAD NM_000031.5(ALAD): c.718C> T (p.Arg240Trp) single nucleotide variant Pathogenic rs121912982 GRCh37 Chromosome 9, 116151801: 116151801
4 ALAD NM_000031.5(ALAD): c.820G> A (p.Ala274Thr) single nucleotide variant Pathogenic rs121912983 GRCh37 Chromosome 9, 116151368: 116151368
5 ALAD ALAD, IVS3AS, C-A, -11 single nucleotide variant Pathogenic
6 ALAD NM_000031.5(ALAD): c.165-11C> T single nucleotide variant Pathogenic rs749066913 GRCh38 Chromosome 9, 113391634: 113391634

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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65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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