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AHEPP
MCID: PRP056
MIFTS: 49

Porphyria, Acute Hepatic (AHEPP)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Porphyria, Acute Hepatic

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MalaCards integrated aliases for Porphyria, Acute Hepatic:

Name: Porphyria, Acute Hepatic 57 13 39
Porphobilinogen Synthase Deficiency 57 73 29 6 71
Lead Poisoning 57 74 58 42
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 74
Porphyria, Alad 57
Alad Porphyria 58
Porphyria Alad 73
Saturnism 58
Plumbism 58
Ahepp 73

Characteristics:

Orphanet epidemiological data:

58
lead poisoning
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/1000000 (France); Age of onset: Childhood;
acute hepatic porphyria
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;
porphyria due to ala dehydratase deficiency
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
very rare
asymptomatic heterozygotes susceptible to lead toxicity
exacerbation following stress, decreased food intake, or alcohol use

Inheritance:
autosomal recessive


HPO:

31
porphyria, acute hepatic:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Liver diseases Nephrological diseases Skin diseases Gastrointestinal diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism


Sources

Summaries for Porphyria, Acute Hepatic

About this section
MedlinePlus : 42 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 harderoporphyria and aminolevulinic acid dehydratase deficiency porphyria, and has symptoms including muscle weakness and vomiting. An important gene associated with Porphyria, Acute Hepatic is ALAD (Aminolevulinate Dehydratase). The drugs Ethanol and Tazobactam have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and kidney, and related phenotypes are constipation and abdominal pain

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 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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 : 74 Lead poisoning is a type of metal poisoning caused by lead in the body. The brain is the most sensitive.... more...

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Related Diseases for Porphyria, Acute Hepatic

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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 281)
# Related Disease Score Top Affiliating Genes
1 harderoporphyria 11.2
2 aminolevulinic acid dehydratase deficiency porphyria 11.2
3 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 11.2
4 hypoaldosteronism 11.0
5 pica disease 10.6
6 constipation 10.6
7 iron metabolism disease 10.5
8 porphyria 10.5
9 hemolytic anemia 10.4
10 porphyria, acute intermittent 10.4
11 encephalopathy 10.4
12 acute porphyria 10.4
13 deficiency anemia 10.4
14 peripheral nervous system disease 10.3
15 heavy metal poisoning 10.3
16 variegate porphyria 10.3
17 ocular motor apraxia 10.2
18 yemenite deaf-blind hypopigmentation syndrome 10.2
19 fanconi syndrome 10.2
20 hemosiderosis 10.2
21 gout 10.2
22 neuritis 10.2
23 neuropathy 10.2
24 thalassemia 10.2
25 tyrosinemia, type ii 10.2
26 tyrosinemia, type i 10.2
27 polycythemia 10.2
28 tyrosinemia 10.2
29 microcytic anemia 10.2
30 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
31 aspergillosis 10.1
32 meningoencephalitis 10.1
33 iron deficiency anemia 10.1
34 cholestasis 10.1
35 gastroenteritis 10.1
36 acute kidney failure 10.1
37 kidney disease 10.1
38 tremor 10.1
39 hepatocellular carcinoma 10.1
40 polyneuropathy 10.1
41 hemochromatosis, type 1 10.1
42 sickle cell anemia 10.1
43 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.1
44 exanthem 10.1
45 bone resorption disease 10.1
46 silicosis 10.1
47 rickets 10.1
48 optic neuritis 10.1
49 typhoid fever 10.1
50 hyperuricemia 10.1

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



Diseases related to Porphyria, Acute Hepatic
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Symptoms & Phenotypes for Porphyria, Acute Hepatic

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Human phenotypes related to Porphyria, Acute Hepatic:

58 31 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002019
2 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002027
3 psychosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000709
4 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
5 polyneuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001271
6 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
7 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
8 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
9 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
10 abdominal distention 58 31 frequent (33%) Frequent (79-30%) HP:0003270
11 nausea 58 31 frequent (33%) Frequent (79-30%) HP:0002018
12 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
13 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
14 renal tubular dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000124
15 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
16 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
17 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
18 delayed eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000684
19 low levels of vitamin d 58 31 occasional (7.5%) Occasional (29-5%) HP:0100512
20 insomnia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100785
21 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
22 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
23 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
24 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
25 premature birth 58 31 occasional (7.5%) Occasional (29-5%) HP:0001622
26 hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001269
27 small for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001518
28 distal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002460
29 spontaneous abortion 58 31 occasional (7.5%) Occasional (29-5%) HP:0005268
30 poor fine motor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007010
31 motor axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007002
32 preeclampsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100602
33 poor gross motor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007015
34 impairment of activities of daily living 58 31 occasional (7.5%) Occasional (29-5%) HP:0031058
35 decreased pulmonary function 58 31 occasional (7.5%) Occasional (29-5%) HP:0005952
36 abdominal cramps 58 31 occasional (7.5%) Occasional (29-5%) HP:0032155
37 imbalanced hemoglobin synthesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005560
38 seizure 31 occasional (7.5%) HP:0001250
39 intellectual disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001249
40 delayed skeletal maturation 58 31 very rare (1%) Very rare (<4-1%) HP:0002750
41 delayed puberty 58 31 very rare (1%) Very rare (<4-1%) HP:0000823
42 increased ldl cholesterol concentration 58 31 very rare (1%) Very rare (<4-1%) HP:0003141
43 asthma 58 31 very rare (1%) Very rare (<4-1%) HP:0002099
44 abnormality of the menstrual cycle 58 31 very rare (1%) Very rare (<4-1%) HP:0000140
45 infertility 58 31 very rare (1%) Very rare (<4-1%) HP:0000789
46 decreased hdl cholesterol concentration 58 31 very rare (1%) Very rare (<4-1%) HP:0003233
47 encephalopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001298
48 coma 58 31 very rare (1%) Very rare (<4-1%) HP:0001259
49 cranial hyperostosis 58 31 very rare (1%) Very rare (<4-1%) HP:0004437
50 sensory impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0003474

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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:
muscle weakness
hypotonia

Hematology:
hemolytic anemia
porphyria

Respiratory Lung:
respiratory paralysis

Clinical features from OMIM®:

612740 (Updated 05-Mar-2021)

UMLS symptoms related to Porphyria, Acute Hepatic:


muscle weakness, vomiting
Sources

Drugs & Therapeutics for Porphyria, Acute Hepatic

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

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Tazobactam Approved Phase 4 89786-04-9 123630
3
Piperacillin Approved Phase 4 66258-76-2 43672
4 Pharmaceutical Solutions Phase 4
5 Antibiotics, Antitubercular Phase 4
6 Antitubercular Agents Phase 4
7 Anti-Infective Agents Phase 4
8 Anti-Bacterial Agents Phase 4
9 Piperacillin, Tazobactam Drug Combination Phase 4
10 Cephalosporins Phase 4
11
Iron Approved Phase 3 7439-89-6 23925 29936
12
Pentetic acid Approved Phase 3 67-43-6
13
Edetic Acid Approved, Vet_approved Phase 3 60-00-4, 62-33-9 6049
14
Sunitinib Approved, Investigational Phase 2, Phase 3 341031-54-7, 557795-19-4 5329102
15
Atorvastatin Approved Phase 3 134523-00-5 60823
16
Inulin Approved, Investigational, Nutraceutical Phase 3 9005-80-5 24763
17 Calcium, Dietary Phase 3
18 Hormones Phase 3
19 Iron Chelating Agents Phase 3
20 Anticoagulants Phase 3
21 Liver Extracts Phase 2, Phase 3
22 Angiogenesis Inhibitors Phase 2, Phase 3
23 Protein Kinase Inhibitors Phase 2, Phase 3
24 Rosuvastatin Calcium Phase 3 147098-20-2
25 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
26 Hypolipidemic Agents Phase 3
27 Antimetabolites Phase 3
28 Lipid Regulating Agents Phase 3
29 Anticholesteremic Agents Phase 3
30
Calcium Nutraceutical Phase 3 7440-70-2 271
31 Androgens Phase 1, Phase 2
32
Succimer Approved 304-55-2 9354
33
Ferrous fumarate Approved 141-01-5
34
Zinc oxide Approved 1314-13-2
35
Zinc Approved, Investigational 7440-66-6 32051
36 methicillin
37 Trace Elements
38 Nutrients
39 Micronutrients
40 Radiation-Protective Agents
41 Sunscreening Agents
42 Dermatologic Agents

Interventional clinical trials:

(show all 37)
# 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 The SATURN Consortium, "Impact of Specific Antibiotic Therapies on the Prevalence of hUman Host ResistaNt Bacteria". Workpackage 2: The SATURN ICU-trial. Completed NCT01293071 Phase 4
3 Designing a Bayesian Model of the Plasma Clearance of Calcium Edetate de Sodium, With a Limited Sampling Strategy for the Calculation of Glomerular Filtration Rate (GFR) and Validity Assessment Compared to the Renal Clearance of Inulin : DFGBay Completed NCT02300376 Phase 3 Dosage of Calcium edetate de sodium
4 A Double-Blind, Randomized, Phase II/III Study Comparing the Use of Chemoembolization Combined With Sunitinib Against Chemoembolization Combined With a Placebo in Patients With Hepatocellular Carcinoma (SATURNE) Completed NCT01164202 Phase 2, Phase 3 sunitinib malate;Placebo
5 Study of Coronary Atheroma by Intravascular Ultrasound: Effect of Rosuvastatin Versus Atorvastatin (SATURN) Completed NCT00620542 Phase 3 Rosuvastatin;Atorvastatin
6 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 Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
7 A Phase 2/3 Trial of d-Penicillamine Chelation in Lead-Poisoned Children Withdrawn NCT00552630 Phase 2, Phase 3 placebo
8 Phase II Study of Stereotactic Ablative Radiotherapy Including Regional Lymph Node Irradiation for Patients With High Risk Prostate Cancer (SATURN) Active, not recruiting NCT01953055 Phase 1, Phase 2
9 Plan for Testing Fingerstick Bloods on Magellan Systems Unknown status NCT03256383
10 Environmental Exposure to Lead and Its Health Effects on Patients With Maintenance Hemodialysis Unknown status NCT00926406 lead chelation therapy
11 Impact of Specific Antibiotic Therapies on the Prevalence of Human Host Resistant Bacteria in Hospitalised Patients (SATURN 04) Unknown status NCT01208519
12 Exposure, Dose, Body Burden and Health Effects of Lead Completed NCT00013819
13 Randomized Study of Succimer (Dimercaptosuccinic Acid) on Growth of Lead-Poisoned Children Completed NCT00004838 succimer
14 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
15 Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria Completed NCT03906214
16 The Combined Effect of 2,3-Dimercaptosuccinic Acid and Multi-Nutrients on Children in Lead Poisoning Completed NCT00374894 2,3-dimercaptosuccinic acid
17 Early Exposure to Lead and Adult Antisocial Outcomes Completed NCT00285610
18 Lead, Endocrine Disruption and Reproductive Outcomes Completed NCT00023101
19 Early Exposure to Lead and Adolescent Development Completed NCT00011674
20 Lead Mobilization & Bone Turnover in Pregnancy/Lactation Completed NCT00011726
21 Social Network Based Intervention to Reduce Lead Exposure Among Native American Children Completed NCT00011661
22 Bone Lead Levels and College Achievement Scores Completed NCT00014885
23 Does Lead Burden Alter Neuropsychological Development? Completed NCT00000104
24 Child Healthcare Excellence Center - A University-Practice-Public Partnership (CHEC-UPPP) Completed NCT01739166
25 Effects of Iron and Zinc Supplementation on Neuropsychological and Educational Achievement in Lead-exposed School Children Completed NCT02346188
26 Human Sperm Zona Acceptor: Environmental Effects Completed NCT00012480
27 Identifying Residential Hazards Using Home Test Kits Completed NCT00285532
28 Environmental Contaminants and Infant Development Completed NCT00013858
29 Dietary Patterns and Variability in Blood Lead Concentrations Among Pregnant British Women Completed NCT03408275
30 An Investigation of the Relationship Between Upper Extremity Muscle Strength, Anaerobic Capacity, Aerobic Capacity and Sportive Performance in Wheelchair Basketball Athletes Completed NCT03455790
31 Truth or Dare; Artificial Blastocoel Collapse of Human Blastocysts Before Vitrification Recruiting NCT04124809
32 A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks Active, not recruiting NCT02240784
33 Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria (AHP) Available NCT04056481 Givosiran
34 SATURN Transcatheter Mitral Valve Replacement for Functional Mitral Regurgitation Enrolling by invitation NCT04464876
35 Reducing Metal Exposures in the Home: A Pilot Study Not yet recruiting NCT04498845
36 Effectiveness of Various Environmental Measures to Eliminate the Risks of Lead Exposure in Infant Lead Poisoning Not yet recruiting NCT03640143
37 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

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Genetic Tests for Porphyria, Acute Hepatic

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Genetic tests related to Porphyria, Acute Hepatic:

# Genetic test Affiliating Genes
1 Porphobilinogen Synthase Deficiency 29 ALAD
Sources

Anatomical Context for Porphyria, Acute Hepatic

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MalaCards organs/tissues related to Porphyria, Acute Hepatic:

40
Liver, Bone, Kidney, Lymph Node, Prostate, Bone Marrow, Brain
Sources

Publications for Porphyria, Acute Hepatic

About this section

Articles related to Porphyria, Acute Hepatic:

(show all 28)
# Title Authors PMID Year
1
The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. 57 6
15303011 2004
2
Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria. 57 6
1569184 1992
3
delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. 6 57
2063868 1991
4
Hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes. 6 57
1905639 1991
5
Enzymatic defect in a child with hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: immunochemical studies. 6 57
3684400 1987
6
New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation. 57 6
513604 1979
7
ALAD porphyria is a conformational disease. 57
17236137 2007
8
Biochemical diagnosis of an hereditary aminolaevulinate dehydratase deficiency in a 63-year-old man. 57
2600550 1989
9
Aminolaevulinate dehydratase porphyria in infancy. A clinical and biochemical study. 57
3559484 1987
10
delta-Aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency. 57
3780034 1986
11
Instability of hematin used in the treatment of acute hepatic porphyria. 57
3724815 1986
12
Hereditary hepatic porphyria with delta aminolevulinate dehydrase deficiency: immunologic characterization of the non-catalytic enzyme. 57
3882553 1985
13
Lead poisoning in inherited delta-aminolevulinic acid dehydratase deficiency. 57
6427116 1984
14
Porphobilinogen-synthase (delta-aminolevulinic acid dehydratase) deficiency in bone marrow cells of two patients with porphobilinogen-synthase defect acute porphyria. 57
6887758 1983
15
Acute lead poisoning in inherited porphobilinogen synthase (delta-aminolevulinic acid dehydrase) deficiency. 57
7104498 1982
16
New type of acute porphyria with porphobilinogen synthase (delta-aminolevulinic acid dehydratase) defect in the homozygous state. 57
7067077 1982
17
Hereditary prophobilinogen synthase deficiency in human associated with acute hepatic porphyria. 57
7287003 1981
18
Acute hepatic porphyria syndrome with porphobilinogen synthase defect. 57
7450139 1980
19
Inherited deficiency of delta-aminolevulinic acid dehydratase. 57
517518 1979
20
Effect of lead on -aminolevulinic acid dehydrase activity in red blood cells. 57
4109097 1971
21
Time for a change in blood lead reference value for Chinese children. 42
33234307 2021
22
Integrating active and passive monitoring to assess sublethal effects and mortality from lead poisoning in birds of prey. 42
33182217 2021
23
Follow-Up of Elevated Blood Lead Levels and Sources in a Cohort of Children in Benin. 42
33238507 2020
24
Excretion pattern of faecal coproporphyrin isomers I-IV in human porphyrias. 61
8845420 1995
25
Composition of urinary coproporphyrin isomers I-IV in human porphyrias. 61
8292661 1993
26
Deficiency of porphobilinogen synthase associated with acute crisis. Diagnosis of the first two cases in Chile by laboratory methods. 61
1892953 1991
27
Elevated brain tryptophan and enhanced 5-hydroxytryptamine turnover in acute hepatic heme deficiency: clinical implications. 61
3968635 1985
28
L-tryptophan: a common denominator of biochemical and neurological events of acute hepatic porphyria? 61
6648517 1983
Sources

Variations for Porphyria, Acute Hepatic

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ClinVar genetic disease variations for Porphyria, Acute Hepatic:

6 (show top 50) (show all 96)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALAD NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) SNV Pathogenic 16862 rs121912980 9:116153078-116153078 9:113390798-113390798
2 ALAD NM_000031.6(ALAD):c.823G>A (p.Val275Met) SNV Pathogenic 16863 rs121912981 9:116151365-116151365 9:113389085-113389085
3 ALAD NM_000031.6(ALAD):c.820G>A (p.Ala274Thr) SNV Pathogenic 16866 rs121912983 9:116151368-116151368 9:113389088-113389088
4 ALAD ALAD, IVS3AS, C-A, -11 SNV Pathogenic 16868
5 ALAD NM_000031.6(ALAD):c.165-11C>T SNV Pathogenic 16869 rs749066913 9:116153914-116153914 9:113391634-113391634
6 ALAD NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) SNV Pathogenic 16865 rs121912982 9:116151801-116151801 9:113389521-113389521
7 ALAD NM_001003945.2(ALAD):c.-239_-238insA Insertion Uncertain significance 364667 rs886063365 9:116163575-116163576 9:113401295-113401296
8 ALAD NM_001003945.2(ALAD):c.-235_-234insGC Insertion Uncertain significance 364665 rs879417667 9:116163571-116163572 9:113401291-113401292
9 ALAD NM_000031.6(ALAD):c.*760T>C SNV Uncertain significance 915040 9:116149820-116149820 9:113387540-113387540
10 ALAD NM_000031.6(ALAD):c.715G>A (p.Asp239Asn) SNV Uncertain significance 646872 rs752186527 9:116151804-116151804 9:113389524-113389524
11 ALAD NM_000031.6(ALAD):c.474C>G (p.Ala158=) SNV Uncertain significance 915073 9:116152880-116152880 9:113390600-113390600
12 ALAD NM_001003945.2(ALAD):c.-237_-234dup Duplication Uncertain significance 364663 rs143518565 9:116163570-116163571 9:113401290-113401291
13 ALAD NM_001003945.2(ALAD):c.-276G>T SNV Uncertain significance 364669 rs376588496 9:116163613-116163613 9:113401333-113401333
14 ALAD NM_001003945.2(ALAD):c.-235C>A SNV Uncertain significance 364666 rs562413861 9:116163572-116163572 9:113401292-113401292
15 ALAD NM_000031.6(ALAD):c.-76+15G>T SNV Uncertain significance 364659 rs756965057 9:116163477-116163477 9:113401197-113401197
16 ALAD NM_000031.6(ALAD):c.940A>G (p.Ile314Val) SNV Uncertain significance 364640 rs557510313 9:116150633-116150633 9:113388353-113388353
17 ALAD NM_000031.6(ALAD):c.*1864A>C SNV Uncertain significance 364620 rs886063357 9:116148716-116148716 9:113386436-113386436
18 ALAD NM_000031.6(ALAD):c.*381G>A SNV Uncertain significance 364637 rs886063363 9:116150199-116150199 9:113387919-113387919
19 ALAD NM_000031.6(ALAD):c.439C>T (p.Arg147Cys) SNV Uncertain significance 364649 rs777664535 9:116152915-116152915 9:113390635-113390635
20 ALAD NM_000031.6(ALAD):c.724G>A (p.Val242Ile) SNV Uncertain significance 364643 rs200180791 9:116151795-116151795 9:113389515-113389515
21 ALAD NM_000031.6(ALAD):c.521G>A (p.Arg174His) SNV Uncertain significance 364646 rs750462706 9:116152734-116152734 9:113390454-113390454
22 ALAD NM_000031.6(ALAD):c.*1470G>A SNV Uncertain significance 364626 rs886063360 9:116149110-116149110 9:113386830-113386830
23 ALAD NM_000031.6(ALAD):c.*1675C>T SNV Uncertain significance 364623 rs756771103 9:116148905-116148905 9:113386625-113386625
24 ALAD NM_000031.6(ALAD):c.1A>G (p.Met1Val) SNV Uncertain significance 364657 rs752500552 9:116155839-116155839 9:113393559-113393559
25 ALAD NM_000031.6(ALAD):c.264C>T (p.Asp88=) SNV Uncertain significance 364652 rs377534006 9:116153211-116153211 9:113390931-113390931
26 ALAD NM_000031.6(ALAD):c.*422G>T SNV Uncertain significance 364635 rs41276805 9:116150158-116150158 9:113387878-113387878
27 ALAD NM_000031.6(ALAD):c.715-14C>A SNV Uncertain significance 364644 rs201135240 9:116151818-116151818 9:113389538-113389538
28 ALAD NM_000031.6(ALAD):c.*1631G>A SNV Uncertain significance 364624 rs886063359 9:116148949-116148949 9:113386669-113386669
29 ALAD NM_000031.6(ALAD):c.931+15G>A SNV Uncertain significance 364641 rs886063364 9:116151242-116151242 9:113388962-113388962
30 ALAD NM_000031.6(ALAD):c.*127C>T SNV Uncertain significance 364638 rs561104906 9:116150453-116150453 9:113388173-113388173
31 ALAD NM_000031.6(ALAD):c.501G>A (p.Pro167=) SNV Uncertain significance 364647 rs376714503 9:116152754-116152754 9:113390474-113390474
32 ALAD NM_000031.6(ALAD):c.*1464A>G SNV Uncertain significance 364627 rs559359572 9:116149116-116149116 9:113386836-113386836
33 ALAD NM_000031.6(ALAD):c.*676dup Duplication Uncertain significance 364630 rs532401659 9:116149903-116149904 9:113387623-113387624
34 ALAD NM_000031.6(ALAD):c.*1915del Deletion Uncertain significance 364619 rs886063356 9:116148665-116148665 9:113386385-113386385
35 ALAD NM_000031.6(ALAD):c.*459_*463del Deletion Uncertain significance 364633 rs886063361 9:116150117-116150121 9:113387837-113387841
36 ALAD NM_000031.6(ALAD):c.16G>A (p.Val6Ile) SNV Uncertain significance 364655 rs766501537 9:116155824-116155824 9:113393544-113393544
37 ALAD NM_000031.6(ALAD):c.*106C>G SNV Uncertain significance 364639 rs8177820 9:116150474-116150474 9:113388194-113388194
38 ALAD NM_000031.6(ALAD):c.*400G>A SNV Uncertain significance 364636 rs557867804 9:116150180-116150180 9:113387900-113387900
39 ALAD NM_000031.6(ALAD):c.678G>T (p.Leu226=) SNV Uncertain significance 364645 rs190497588 9:116151915-116151915 9:113389635-113389635
40 ALAD NM_000031.6(ALAD):c.897C>T (p.Ala299=) SNV Uncertain significance 364642 rs370242589 9:116151291-116151291 9:113389011-113389011
41 ALAD NM_000031.6(ALAD):c.*1511T>C SNV Uncertain significance 364625 rs745513769 9:116149069-116149069 9:113386789-113386789
42 ALAD NM_000031.6(ALAD):c.*1741G>A SNV Uncertain significance 364622 rs886063358 9:116148839-116148839 9:113386559-113386559
43 ALAD NM_000031.6(ALAD):c.*438G>C SNV Uncertain significance 364634 rs886063362 9:116150142-116150142 9:113387862-113387862
44 ALAD NM_000031.6(ALAD):c.29G>C (p.Gly10Ala) SNV Uncertain significance 522441 rs199655229 9:116155811-116155811 9:113393531-113393531
45 ALAD NM_000031.6(ALAD):c.520C>T (p.Arg174Cys) SNV Uncertain significance 548951 rs758622234 9:116152735-116152735 9:113390455-113390455
46 ALAD NM_000031.6(ALAD):c.*643G>T SNV Uncertain significance 912313 9:116149937-116149937 9:113387657-113387657
47 ALAD NM_000031.6(ALAD):c.*498C>T SNV Uncertain significance 912314 9:116150082-116150082 9:113387802-113387802
48 ALAD NM_000031.6(ALAD):c.277G>A (p.Ala93Thr) SNV Uncertain significance 912357 9:116153198-116153198 9:113390918-113390918
49 ALAD NM_000031.6(ALAD):c.241G>A (p.Val81Ile) SNV Uncertain significance 912358 9:116153827-116153827 9:113391547-113391547
50 ALAD NM_000031.6(ALAD):c.*1832T>C SNV Uncertain significance 913398 9:116148748-116148748 9:113386468-113386468

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 rs155474022

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Expression for Porphyria, Acute Hepatic

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Pathways for Porphyria, Acute Hepatic

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GO Terms for Porphyria, Acute Hepatic

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Sources for Porphyria, Acute Hepatic

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
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31 HPO
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57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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