MCID: PRP056
MIFTS: 41

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 53 13
Lead Poisoning 53 72 55 40 3
Porphobilinogen Synthase Deficiency 53 71 28 69
Delta-Aminolevulinate Dehydratase Deficiency 53 71
Alad Deficiency 53 71
Doss Porphyria 53 71
Porphyria Due to Delta-Aminolevulinate Dehydratase Deficiency 55
Porphyria Due to Ala Dehydratase Deficiency 55
Aminolevulinate, Delta-, Dehydratase 13
Lead Poisoning, Susceptibility to 53
Porphyria Due to Alad Deficiency 55
Acute Hepatic Porphyria 71
Lead Intoxication 55
Porphyria of Doss 55
Porphyria, Ala-D 72
Porphyria, Alad 53
Alad Porphyria 55
Porphyria Alad 71
Saturnism 55
Plumbism 55
Ahepp 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive

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


HPO:

31
porphyria, acute hepatic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Porphyria, Acute Hepatic

MedlinePlus : 40 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 coproporphyria, hereditary and porphyria, acute intermittent, 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 Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and skin.

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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.

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.

Wikipedia : 72 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

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 coproporphyria, hereditary 11.3
2 porphyria, acute intermittent 11.1
3 porphyria variegata 11.1
4 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 10.9
5 hypoaldosteronism 10.8
6 hepatitis 10.5
7 hyperphenylalaninemia due to dehydratase deficiency 10.4
8 episodic pain syndrome, familial, 1 10.0
9 renal cell carcinoma, nonpapillary 10.0
10 factitious disorder 9.9
11 porphyria 9.9
12 protoporphyria, erythropoietic 9.7
13 periodontitis 9.6

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:

53
Abdomen Gastroin testinal:
vomiting
abdominal colic

Growth Other:
failure to thrive

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:
muscle weakness
hypotonia

Hematology:
hemolytic anemia
porphyria

Respiratory Lung:
respiratory paralysis


Clinical features from OMIM:

612740

Human phenotypes related to Porphyria, Acute Hepatic:

55 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002019
2 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
3 abdominal pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002027
4 diarrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002014
5 hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001269
6 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
7 sensory neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000763
8 psychosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000709
9 polyneuropathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001271
10 motor axonal neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0007002
11 vomiting 31 HP:0002013
12 failure to thrive 31 HP:0001508
13 behavioral abnormality 55 Very frequent (99-80%)
14 hemolytic anemia 31 HP:0001878
15 paresthesia 31 HP:0003401
16 respiratory paralysis 31 HP:0002203
17 generalized hypotonia 31 HP:0001290
18 abdominal colic 31 HP:0011848
19 elevated urinary delta-aminolevulinic acid 31 HP:0003163
20 very rare 31 HP:0040284

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 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2 Anti-Infective Agents Phase 4
3 Anti-Infective Agents, Local Phase 4
4 Central Nervous System Depressants Phase 4
5 Pharmaceutical Solutions Phase 4
6
Edetic Acid Approved, Vet_approved Phase 3,Not Applicable 60-00-4, 62-33-9 6049
7
Succimer Approved Phase 3,Phase 1,Phase 2,Not Applicable 304-55-2 9354
8
Iron Approved Phase 3,Not Applicable 7439-89-6 23925
9
Inulin Approved, Investigational, Nutraceutical Phase 3 9005-80-5 24763
10 Chelating Agents Phase 3,Phase 2,Phase 1,Not Applicable
11 Calcium, Dietary Phase 3,Not Applicable
12 Pentetic Acid Phase 3,Not Applicable
13 Antidotes Phase 3,Phase 2,Phase 1,Not Applicable
14 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
15 Bone Density Conservation Agents Phase 3
16 Iron Chelating Agents Phase 3,Not Applicable
17 Anticoagulants Phase 3
18
Zinc Approved, Investigational Not Applicable 7440-66-6 32051 23994
19
Zinc oxide Approved Not Applicable 1314-13-2
20
Iodine Approved, Investigational 7553-56-2 807
21
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
22
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
23 fe(iii)-edta Not Applicable
24 Micronutrients Not Applicable
25 Trace Elements Not Applicable
26 Dermatologic Agents Not Applicable
27 Ferrous fumarate Not Applicable
28 Radiation-Protective Agents Not Applicable
29 Sunscreening Agents Not Applicable
30 cadexomer iodine
31 Ergocalciferols
32 Vitamins
33 calcitonin Not Applicable
34 Calciferol Nutraceutical
35 Vitamin D2 Nutraceutical

Interventional clinical trials:

(show all 30)

# Name Status NCT ID Phase Drugs
1 Homeopathic Preparation Plumbum Metallicum for Lead Poisoning Completed NCT00931905 Phase 4 Homeopathic medication Plumbum metallicum
2 Treatment of Lead-Exposed Children Trial Completed NCT00342849 Phase 3 Succimer;Placebo
3 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
4 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 Dosage of Calcium edetate de sodium
5 Penicillamine Chelation for Children With Lead Poisoning Withdrawn NCT00552630 Phase 2, Phase 3 placebo
6 Dimercaptosuccinic Acid (DMSA) Treatment of Children With Autism and Heavy Metal Toxicity Completed NCT00811083 Phase 1, Phase 2 DMSA - dimercaptosuccinic acid
7 Environmental Exposure to Lead and Its Health Effects on Patients With Maintenance Hemodialysis Unknown status NCT00926406 Not Applicable lead chelation therapy
8 Kansas City Community Environmental Remediation And Training (KC CERT) Unknown status NCT00144443 Not Applicable
9 The Combined Effect of 2,3-Dimercaptosuccinic Acid and Multi-Nutrients on Children in Lead Poisoning Completed NCT00374894 Not Applicable 2,3-dimercaptosuccinic acid
10 Iron Fortification Trail Using NaFeEDTA in Iron Deficient Lead-exposed Children Completed NCT01573013 Not Applicable
11 Social Network Based Intervention to Reduce Lead Exposure Among Native American Children Completed NCT00011661 Not Applicable
12 Randomized Study of Succimer (Dimercaptosuccinic Acid) on Growth of Lead-Poisoned Children Completed NCT00004838 Not Applicable succimer
13 Exposure, Dose, Body Burden and Health Effects of Lead Completed NCT00013819 Not Applicable
14 Effects of Iron and/or Zinc Supplementation in Mexican School Children Exposed to Lead Completed NCT02346188 Not Applicable
15 Early Exposure to Lead and Adult Antisocial Outcomes Completed NCT00285610 Not Applicable
16 Bone Lead Levels and College Achievement Scores Completed NCT00014885 Not Applicable
17 Lead Mobilization & Bone Turnover in Pregnancy/Lactation Completed NCT00011726 Not Applicable
18 Early Exposure to Lead and Adolescent Development Completed NCT00011674 Not Applicable
19 Does Lead Burden Alter Neuropsychological Development? Completed NCT00000104 Not Applicable
20 Vitamin D, Iodine, and Lead Levels in Haitian Infants and Children. Completed NCT02301520
21 Lead, Endocrine Disruption and Reproductive Outcomes Completed NCT00023101 Not Applicable
22 Environmental Contaminants and Infant Development Completed NCT00013858 Not Applicable
23 Dietry Pattern and Lead Levels in Pregnancy Completed NCT03408275
24 QI Study of a Practice Facilitator's Impact in Working With Clinics on Improving Dental, Lead & Obesity Measures for Children Completed NCT01739166 Not Applicable
25 Identifying Residential Hazards Using Home Test Kits Completed NCT00285532 Not Applicable
26 Effect of Environmental Exposures on the Egg Fertilizing Ability of Human Sperm Completed NCT00012480 Not Applicable
27 External Lid Loading for the Temporary Treatment of the Paresis of the M. Orbicularis Oculi: a Clinical Note Completed NCT01274689
28 Reducing Diagnostic Errors in Primary Care Pediatrics (Project RedDE) Completed NCT02798354 Not Applicable
29 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
30 Plan for Testing Fingerstick Bloods on Magellan Systems Recruiting NCT03256383

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

MalaCards organs/tissues related to Porphyria, Acute Hepatic:

38
Brain, Liver, Skin

Publications for Porphyria, Acute Hepatic

Articles related to Porphyria, Acute Hepatic:

(show top 50) (show all 549)
# Title Authors Year
1
Lead Poisoning: Myoclonus Following Welding Exposure. ( 29364803 )
2017
2
Lead Poisoning Can Be Easily Misdiagnosed as Acute Porphyria and Nonspecific Abdominal Pain. ( 28630774 )
2017
3
Association between Polymorphism of Exportin-5 and Susceptibility to Lead Poisoning in a Chinese Population. ( 28042866 )
2016
4
Screening for childhood lead poisoning in the industrial region of fez, morocco. ( 25511562 )
2015
5
Dysplastic changes in erythroid precursors as a manifestation of lead poisoning: report of a case and review of literature. ( 25755780 )
2015
6
Lead poisoning and its in vivo biomarkers in Mallard and Coot from two hunting activity areas in Poland. ( 25666052 )
2015
7
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
8
Using environmental public health tracking to identify community targets for public health actions in childhood lead poisoning in Wisconsin. ( 25621451 )
2015
9
An exploratory analysis to determine priority areas for lead poisoning prevention education programs in Missouri. ( 25796697 )
2015
10
Lead poisoning prevention for preschool settings: a program template. ( 25626240 )
2015
11
Lead poisoning in Nile tilapia (Oreochromis niloticus): oxidant and antioxidant relationship. ( 25732982 )
2015
12
Investigating lead poisoning in children-could surveillance help? ( 25651824 )
2015
13
A cluster of lead poisoning among consumers of Ayurvedic medicine. ( 25843124 )
2015
14
Lead poisoning in children from townships in the vicinity of a lead-zinc mine in Kabwe, Zambia. ( 25303652 )
2014
15
Primary prevention of lead poisoning: protecting children from unsafe housing. ( 24922160 )
2014
16
Ayurvedic Medicine Use and Lead Poisoning in a Child: A Continued Concern in the United States. ( 25305259 )
2014
17
Lead poisoning mimicking acute porphyria! ( 25653942 )
2014
18
Cascading impacts of anthropogenically driven habitat loss: deforestation, flooding, and possible lead poisoning in howler monkeys (Alouatta pigra). ( 25163777 )
2014
19
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
20
Childhood lead poisoning and the new Centers for Disease Control and Prevention guidelines for lead exposure. ( 24616453 )
2014
21
Congenital lead poisoning: an unusual presentation. ( 24757314 )
2014
22
Lead poisoning in children. ( 25037135 )
2014
23
Lead poisoning in an infant. ( 24825279 )
2014
24
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
25
Imagination and public health: the end of lead poisoning in california? ( 25199891 )
2014
26
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
27
Lead poisoning influences TCR-related gene expression patterns in peripheral blood T-lymphocytes of exposed workers. ( 24720682 )
2014
28
A case of tetraethyl lead poisoning. ( 24706472 )
2014
29
Lead poisoning. ( 25220013 )
2014
30
Editorial role of a clinical biochemist in evaluating the impact of lead poisoning. ( 24381413 )
2013
31
Eye cosmetic 'surma': hidden threats of lead poisoning. ( 24381425 )
2013
32
Are children still at risk for lead poisoning? ( 23155194 )
2013
33
Childhood lead poisoning in a somali refugee resettlement community in New Hampshire. ( 23456687 )
2013
34
A clinical study of the effects of lead poisoning on the intelligence and neurobehavioral abilities of children. ( 23414525 )
2013
35
Antioxidant and micronutrient-rich milk formula reduces lead poisoning and related oxidative damage in lead-exposed mice. ( 23537597 )
2013
36
A Case of Lead Poisoning due to a Mixture of Talisman Ash. ( 24472628 )
2013
37
Linking geological and health sciences to assess childhood lead poisoning from artisanal gold mining in Nigeria. ( 23524139 )
2013
38
Traditional medicine: a rare cause of lead poisoning in Western countries. ( 24555110 )
2013
39
Unconventional firepower: an unexpected source of lead poisoning. ( 22367334 )
2013
40
A systematic review of screening questionnaires for childhood lead poisoning. ( 22668673 )
2013
41
Forensic case of lead poisoning from a battery manufacturing company in Nakuru, Kenya. ( 23631156 )
2013
42
Olive leaf extract inhibits lead poisoning-induced brain injury. ( 25206510 )
2013
43
Lead poisoning-induced hypertensive crisis managed by prazosin: a case report. ( 24349754 )
2013
44
Unrecorded alcohol and lead poisoning. ( 24262744 )
2013
45
Imported occupational lead poisoning: report of four cases. ( 24640829 )
2013
46
Lead poisoning from Ayurvedic medicines. ( 23799386 )
2013
47
Manioc flour consumption as a risk factor for lead poisoning in the Brazilian Amazon. ( 23356650 )
2013
48
An ongoing lack of knowledge about lead poisoning. ( 23947313 )
2013
49
Role of chelation in the treatment of lead poisoning: discussion of the Treatment of Lead-Exposed Children Trial (TLC). ( 24178899 )
2013
50
Call for an accurate historical account of childhood lead poisoning prevention. ( 23488517 )
2013

Variations for Porphyria, Acute Hepatic

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

71
# 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
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
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50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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