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AHEPP
MCID: PRP056
MIFTS: 48

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 56 13 39
Porphobilinogen Synthase Deficiency 56 73 29 6 71
Lead Poisoning 56 74 58 42
Delta-Aminolevulinate Dehydratase Deficiency 56 73
Acute Hepatic Porphyria 58 73
Alad Deficiency 56 73
Doss Porphyria 56 73
Porphyria Due to Delta-Aminolevulinate Dehydratase Deficiency 58
Porphyria Due to Ala Dehydratase Deficiency 58
Lead Poisoning, Susceptibility to 56
Porphyria Due to Alad Deficiency 58
Lead Intoxication 58
Porphyria of Doss 58
Porphyria, Ala-D 74
Porphyria, Alad 56
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:

56
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 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 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 brain, liver and bone, and related phenotypes are abdominal pain and constipation

OMIM : 56 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 : 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 312)
# Related Disease Score Top Affiliating Genes
1 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 11.6
2 harderoporphyria 11.4
3 hypoaldosteronism 11.1
4 encephalopathy 10.5
5 pica disease 10.4
6 constipation 10.4
7 porphyria 10.4
8 deficiency anemia 10.4
9 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.4
10 renal cell carcinoma, nonpapillary 10.3
11 iron metabolism disease 10.3
12 tyrosinemia, type ii 10.3
13 tyrosinemia, type i 10.3
14 polycythemia 10.3
15 tyrosinemia 10.3
16 hemolytic anemia 10.3
17 polyneuropathy 10.2
18 neuropathy 10.2
19 autosomal recessive disease 10.2
20 heavy metal poisoning 10.2
21 peripheral nervous system disease 10.1
22 porphyria, acute intermittent 10.1
23 acute porphyria 10.1
24 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
25 ocular motor apraxia 10.1
26 yemenite deaf-blind hypopigmentation syndrome 10.1
27 fanconi renotubular syndrome 2 10.1
28 thalassemia 10.1
29 fanconi syndrome 10.1
30 hemosiderosis 10.1
31 gout 10.1
32 neuritis 10.1
33 kidney disease 10.1
34 variegate porphyria 10.0
35 cholangiocarcinoma 10.0
36 intrahepatic cholangiocarcinoma 10.0
37 chronic pain 10.0
38 syringomyelia, noncommunicating isolated 10.0
39 myxedema 10.0
40 mucopolysaccharidosis-plus syndrome 10.0
41 renal hypertension 10.0
42 personality disorder 10.0
43 factitious disorder 10.0
44 hepatitis b 10.0
45 syringomyelia 10.0
46 inflammatory myopathy with abundant macrophages 10.0
47 microcytic anemia 10.0
48 diarrhea 10.0
49 small cell cancer of the lung 10.0
50 lung cancer 10.0

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 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002027
2 constipation 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002019
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 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
7 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
8 hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001269
9 motor axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007002
10 seizure 31 occasional (7.5%) HP:0001250
11 vomiting 58 31 Frequent (79-30%) HP:0002013
12 intellectual disability 58 Very rare (<4-1%)
13 delayed skeletal maturation 58 Very rare (<4-1%)
14 behavioral abnormality 58 Very frequent (99-80%),Occasional (29-5%)
15 muscular hypotonia 31 HP:0001252
16 seizures 58 Occasional (29-5%),Very rare (<4-1%)
17 cognitive impairment 58 Occasional (29-5%)
18 renal tubular dysfunction 58 Occasional (29-5%)
19 delayed puberty 58 Very rare (<4-1%)
20 failure to thrive 31 HP:0001508
21 fatigue 58 Frequent (79-30%)
22 peripheral neuropathy 58 Very rare (<4-1%)
23 anemia 58 Occasional (29-5%)
24 skin rash 58 Occasional (29-5%)
25 memory impairment 58 Occasional (29-5%)
26 attention deficit hyperactivity disorder 58 Occasional (29-5%)
27 hypertension 58 Frequent (79-30%)
28 specific learning disability 58 Occasional (29-5%)
29 depressivity 58 Occasional (29-5%)
30 hemolytic anemia 31 HP:0001878
31 increased ldl cholesterol concentration 58 Very rare (<4-1%)
32 anorexia 58 Frequent (79-30%)
33 delayed eruption of teeth 58 Occasional (29-5%)
34 abnormality of the immune system 58 Occasional (29-5%)
35 low levels of vitamin d 58 Occasional (29-5%)
36 paresthesia 31 HP:0003401
37 asthma 58 Very rare (<4-1%)
38 insomnia 58 Occasional (29-5%)
39 abnormality of the menstrual cycle 58 Very rare (<4-1%)
40 headache 58 Occasional (29-5%)
41 infertility 58 Very rare (<4-1%)
42 premature birth 58 Occasional (29-5%)
43 decreased hdl cholesterol concentration 58 Very rare (<4-1%)
44 encephalopathy 58 Very rare (<4-1%)
45 cranial hyperostosis 58 Very rare (<4-1%)
46 sensory impairment 58 Very rare (<4-1%)
47 small for gestational age 58 Occasional (29-5%)
48 generalized hypotonia 31 HP:0001290
49 abdominal distention 58 Frequent (79-30%)
50 distal muscle weakness 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle weakness
hypotonia

Abdomen Gastrointestinal:
vomiting
abdominal colic

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

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

Growth Other:
failure to thrive

Hematology:
hemolytic anemia
porphyria

Respiratory Lung:
respiratory paralysis

Clinical features from OMIM:

612740

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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2 Pharmaceutical Solutions Phase 4
3
Iron Approved, Experimental Phase 3 15438-31-0, 7439-89-6 27284 23925
4
Succimer Approved Phase 3 304-55-2 9354
5
Edetic Acid Approved, Vet_approved Phase 3 60-00-4, 62-33-9 6049
6
Pentetic acid Approved Phase 3 67-43-6
7
Inulin Approved, Investigational, Nutraceutical Phase 3 9005-80-5 24763
8 Hormones Phase 3
9 Iron Chelating Agents Phase 3
10 Calcium, Dietary Phase 3
11 Anticoagulants Phase 3
12
Calcium Nutraceutical Phase 3 7440-70-2 271
13
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
14 Anti-Bacterial Agents Phase 2
15 Anti-Infective Agents Phase 2
16
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
17
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
18
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
19
Losartan Approved Phase 1 114798-26-4 3961
20
Caffeine Approved Phase 1 58-08-2 2519
21
Protoporphyrin IX Experimental Phase 1 553-12-8
22 Vaccines Phase 1
23 Dermatologic Agents Phase 1
24 Photosensitizing Agents Phase 1
25 Tin protoporphyrin IX Phase 1
26
Iodine Approved, Investigational 7553-56-2 807
27
Ferrous fumarate Approved 141-01-5
28
Zinc Approved, Investigational 7440-66-6 32051
29
Zinc oxide Approved 1314-13-2
30
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
31 Trace Elements
32 Nutrients
33 Micronutrients
34 Vitamins
35 Calciferol
36 cadexomer iodine
37 Sunscreening Agents
38 Radiation-Protective Agents
39 Antipsychotic Agents

Interventional clinical trials:

(show all 41)
# 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 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
3 Treatment of Lead-Exposed Children (TLC) Trial Completed NCT00342849 Phase 3 Succimer;Placebo
4 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
5 A Phase 2/3 Trial of d-Penicillamine Chelation in Lead-Poisoned Children Withdrawn NCT00552630 Phase 2, Phase 3 placebo
6 DMSA Treatment of Children With Autism and Heavy Metal Toxicity Completed NCT00811083 Phase 1, Phase 2 DMSA - dimercaptosuccinic acid
7 Phase II Pilot Study to Estimate the Adverse Events Associated With the Lock Solution When Used to Salvage Central Venous Catheter (CVC) in the Setting of a Central Line Associated Bloodstream Infection (CLABSI) Completed NCT01539343 Phase 2 Antimicrobial Solution
8 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
9 Transdermal Absorption of DMPS and Its Effect on Urinary Mercury Excretion Completed NCT01059474 Phase 1 transdermal DMPS
10 Efficacy of Based MRI Contrast Media Against Covid-19 Not yet recruiting NCT04371822 Phase 1 SnPP Protoporphyrin plus Sunlight exposure;SnPP Protoporphyrin plus Sunlight exposure;SnPP Protoporphyrin plus Sunlight exposure;Sulfonatoporphyrin(TPPS) plus Sunlight exposure.
11 Plan for Testing Fingerstick Bloods on Magellan Systems Unknown status NCT03256383
12 Environmental Exposure to Lead and Its Health Effects on Patients With Maintenance Hemodialysis Unknown status NCT00926406 lead chelation therapy
13 Kansas City Community Environmental Remediation And Training (KC CERT) Unknown status NCT00144443
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 The Combined Effect of 2,3-Dimercaptosuccinic Acid and Multi-Nutrients on Children in Lead Poisoning Completed NCT00374894 2,3-dimercaptosuccinic acid
16 Vitamin D Deficiency, Iodine Deficiency and Lead Levels in Haitian Infants and Children. Completed NCT02301520
17 Lead Mobilization & Bone Turnover in Pregnancy/Lactation Completed NCT00011726
18 Early Exposure to Lead and Adolescent Development Completed NCT00011674
19 Early Exposure to Lead and Adult Antisocial Outcomes Completed NCT00285610
20 Exposure, Dose, Body Burden and Health Effects of Lead Completed NCT00013819
21 Lead, Endocrine Disruption and Reproductive Outcomes Completed NCT00023101
22 Bone Lead Levels and College Achievement Scores Completed NCT00014885
23 Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria Completed NCT03906214
24 Randomized Study of Succimer (Dimercaptosuccinic Acid) on Growth of Lead-Poisoned Children Completed NCT00004838 succimer
25 Social Network Based Intervention to Reduce Lead Exposure Among Native American Children Completed NCT00011661
26 Does Lead Burden Alter Neuropsychological Development? Completed NCT00000104
27 Effects of Iron and Zinc Supplementation on Neuropsychological and Educational Achievement in Lead-exposed School Children Completed NCT02346188
28 Identifying Residential Hazards Using Home Test Kits Completed NCT00285532
29 Dietary Patterns and Variability in Blood Lead Concentrations Among Pregnant British Women Completed NCT03408275
30 Environmental Contaminants and Infant Development Completed NCT00013858
31 Child Healthcare Excellence Center - A University-Practice-Public Partnership (CHEC-UPPP) Completed NCT01739166
32 External Lid Loading for the Temporary Treatment of the Paresis of the M. Orbicularis Oculi: a Clinical Note Completed NCT01274689
33 Human Sperm Zona Acceptor: Environmental Effects Completed NCT00012480
34 Reducing Diagnostic Errors in Primary Care Pediatrics Completed NCT02798354
35 A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks Recruiting NCT02240784
36 Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria (AHP) Available NCT04056481 Givosiran
37 A Community-based, Family Navigator Intervention to Improve Cardiometabolic Health of Medicaid-insured Youth Identified Through an Antipsychotic Medication Preauthorization Program Enrolling by invitation NCT02877823
38 Effectiveness of Various Environmental Measures to Eliminate the Risks of Lead Exposure in Infant Lead Poisoning Not yet recruiting NCT03640143
39 Validation of a Screening Tool for Social and Health Vulnerability in Pediatric Clinical Practice Tool Child Vulnerable -ENVU Not yet recruiting NCT03640715
40 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
41 Increasing Infant Preventive Health Service Delivery in an Inner City Population Terminated NCT00221507

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
Brain, Liver, Bone, Skin, Testes, Kidney, T Cells
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. 56 6
15303011 2004
2
Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria. 56 6
1569184 1992
3
delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. 56 6
2063868 1991
4
Hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes. 6 56
1905639 1991
5
Enzymatic defect in a child with hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: immunochemical studies. 56 6
3684400 1987
6
New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation. 6 56
513604 1979
7
ALAD porphyria is a conformational disease. 56
17236137 2007
8
Biochemical diagnosis of an hereditary aminolaevulinate dehydratase deficiency in a 63-year-old man. 56
2600550 1989
9
Aminolaevulinate dehydratase porphyria in infancy. A clinical and biochemical study. 56
3559484 1987
10
delta-Aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency. 56
3780034 1986
11
Instability of hematin used in the treatment of acute hepatic porphyria. 56
3724815 1986
12
Hereditary hepatic porphyria with delta aminolevulinate dehydrase deficiency: immunologic characterization of the non-catalytic enzyme. 56
3882553 1985
13
Lead poisoning in inherited delta-aminolevulinic acid dehydratase deficiency. 56
6427116 1984
14
Porphobilinogen-synthase (delta-aminolevulinic acid dehydratase) deficiency in bone marrow cells of two patients with porphobilinogen-synthase defect acute porphyria. 56
6887758 1983
15
Acute lead poisoning in inherited porphobilinogen synthase (delta-aminolevulinic acid dehydrase) deficiency. 56
7104498 1982
16
New type of acute porphyria with porphobilinogen synthase (delta-aminolevulinic acid dehydratase) defect in the homozygous state. 56
7067077 1982
17
Hereditary prophobilinogen synthase deficiency in human associated with acute hepatic porphyria. 56
7287003 1981
18
Acute hepatic porphyria syndrome with porphobilinogen synthase defect. 56
7450139 1980
19
Inherited deficiency of delta-aminolevulinic acid dehydratase. 56
517518 1979
20
Effect of lead on -aminolevulinic acid dehydrase activity in red blood cells. 56
4109097 1971
21
Current trends of blood lead levels, distribution patterns and exposure variations among household members in Kabwe, Zambia. 42
31995873 2020
22
More Guidelines than states: variations in U.S. lead screening and management guidance and impacts on shareable CDS development. 42
31996264 2020
23
The role of the South African Medical Research Council in reducing lead exposure and preventing lead poisoning in South Africa. 42
32252864 2019
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, -11SNV Pathogenic 16868
5 ALAD NM_000031.6(ALAD):c.165-11C>TSNV Pathogenic 16869 rs749066913 9:116153914-116153914 9:113391634-113391634
6 ALAD NM_000031.6(ALAD):c.678G>T (p.Leu226=)SNV Conflicting interpretations of pathogenicity 364645 rs190497588 9:116151915-116151915 9:113389635-113389635
7 ALAD NM_000031.6(ALAD):c.439C>T (p.Arg147Cys)SNV Uncertain significance 364649 rs777664535 9:116152915-116152915 9:113390635-113390635
8 ALAD NM_000031.6(ALAD):c.*1470G>ASNV Uncertain significance 364626 rs886063360 9:116149110-116149110 9:113386830-113386830
9 ALAD NM_000031.6(ALAD):c.*1464A>GSNV Uncertain significance 364627 rs559359572 9:116149116-116149116 9:113386836-113386836
10 ALAD NM_000031.6(ALAD):c.*106C>GSNV Uncertain significance 364639 rs8177820 9:116150474-116150474 9:113388194-113388194
11 ALAD NM_000031.6(ALAD):c.897C>T (p.Ala299=)SNV Uncertain significance 364642 rs370242589 9:116151291-116151291 9:113389011-113389011
12 ALAD NM_001003945.2(ALAD):c.-237_-234dupduplication Uncertain significance 364663 rs143518565 9:116163570-116163571 9:113401290-113401291
13 ALAD NM_001003945.2(ALAD):c.-235C>ASNV Uncertain significance 364666 rs562413861 9:116163572-116163572 9:113401292-113401292
14 ALAD NM_000031.6(ALAD):c.*1915deldeletion Uncertain significance 364619 rs886063356 9:116148665-116148665 9:113386385-113386385
15 ALAD NM_000031.6(ALAD):c.*1864A>CSNV Uncertain significance 364620 rs886063357 9:116148716-116148716 9:113386436-113386436
16 ALAD NM_000031.6(ALAD):c.-75-11A>GSNV Uncertain significance 913865 9:116155925-116155925 9:113393645-113393645
17 ALAD NM_000031.6(ALAD):c.718C>T (p.Arg240Trp)SNV Uncertain significance 16865 rs121912982 9:116151801-116151801 9:113389521-113389521
18 ALAD NM_000031.6(ALAD):c.*1675C>TSNV Uncertain significance 364623 rs756771103 9:116148905-116148905 9:113386625-113386625
19 ALAD NM_000031.6(ALAD):c.*400G>ASNV Uncertain significance 364636 rs557867804 9:116150180-116150180 9:113387900-113387900
20 ALAD NM_000031.6(ALAD):c.1A>G (p.Met1Val)SNV Uncertain significance 364657 rs752500552 9:116155839-116155839 9:113393559-113393559
21 ALAD NM_001003945.2(ALAD):c.-276G>TSNV Uncertain significance 364669 rs376588496 9:116163613-116163613 9:113401333-113401333
22 ALAD NM_000031.6(ALAD):c.*1741G>ASNV Uncertain significance 364622 rs886063358 9:116148839-116148839 9:113386559-113386559
23 ALAD NM_000031.6(ALAD):c.*1631G>ASNV Uncertain significance 364624 rs886063359 9:116148949-116148949 9:113386669-113386669
24 ALAD NM_000031.6(ALAD):c.*1511T>CSNV Uncertain significance 364625 rs745513769 9:116149069-116149069 9:113386789-113386789
25 ALAD NM_000031.6(ALAD):c.*676dupduplication Uncertain significance 364630 rs532401659 9:116149903-116149904 9:113387623-113387624
26 ALAD NM_000031.6(ALAD):c.*459_*463deldeletion Uncertain significance 364633 rs886063361 9:116150117-116150121 9:113387837-113387841
27 ALAD NM_000031.6(ALAD):c.*438G>CSNV Uncertain significance 364634 rs886063362 9:116150142-116150142 9:113387862-113387862
28 ALAD NM_000031.6(ALAD):c.*422G>TSNV Uncertain significance 364635 rs41276805 9:116150158-116150158 9:113387878-113387878
29 ALAD NM_000031.6(ALAD):c.*127C>TSNV Uncertain significance 364638 rs561104906 9:116150453-116150453 9:113388173-113388173
30 ALAD NM_000031.6(ALAD):c.940A>G (p.Ile314Val)SNV Uncertain significance 364640 rs557510313 9:116150633-116150633 9:113388353-113388353
31 ALAD NM_000031.6(ALAD):c.724G>A (p.Val242Ile)SNV Uncertain significance 364643 rs200180791 9:116151795-116151795 9:113389515-113389515
32 ALAD NM_000031.6(ALAD):c.715-14C>ASNV Uncertain significance 364644 rs201135240 9:116151818-116151818 9:113389538-113389538
33 ALAD NM_000031.6(ALAD):c.521G>A (p.Arg174His)SNV Uncertain significance 364646 rs750462706 9:116152734-116152734 9:113390454-113390454
34 ALAD NM_000031.6(ALAD):c.*1671A>TSNV Uncertain significance 914513 9:116148909-116148909 9:113386629-113386629
35 ALAD NM_000031.6(ALAD):c.*234G>ASNV Uncertain significance 913439 9:116150346-116150346 9:113388066-113388066
36 ALAD NM_000031.6(ALAD):c.*12C>TSNV Uncertain significance 913440 9:116150568-116150568 9:113388288-113388288
37 ALAD NM_000031.6(ALAD):c.910A>G (p.Met304Val)SNV Uncertain significance 913817 9:116151278-116151278 9:113388998-113388998
38 ALAD NM_000031.6(ALAD):c.870G>A (p.Gln290=)SNV Uncertain significance 913818 9:116151318-116151318 9:113389038-113389038
39 ALAD NM_000031.6(ALAD):c.770A>G (p.Tyr257Cys)SNV Uncertain significance 913820 9:116151749-116151749 9:113389469-113389469
40 ALAD NM_000031.6(ALAD):c.474C>G (p.Ala158=)SNV Uncertain significance 915073 9:116152880-116152880 9:113390600-113390600
41 ALAD NM_000031.6(ALAD):c.277G>A (p.Ala93Thr)SNV Uncertain significance 912357 9:116153198-116153198 9:113390918-113390918
42 ALAD NM_000031.6(ALAD):c.241G>A (p.Val81Ile)SNV Uncertain significance 912358 9:116153827-116153827 9:113391547-113391547
43 ALAD NM_000031.6(ALAD):c.-70G>TSNV Uncertain significance 913490 9:116155909-116155909 9:113393629-113393629
44 ALAD NM_000031.6(ALAD):c.801+14C>TSNV Uncertain significance 913819 9:116151704-116151704 9:113389424-113389424
45 ALAD NM_000031.6(ALAD):c.29G>C (p.Gly10Ala)SNV Uncertain significance 522441 rs199655229 9:116155811-116155811 9:113393531-113393531
46 ALAD NM_000031.6(ALAD):c.784C>T (p.Arg262Trp)SNV Uncertain significance 546208 rs777485356 9:116151735-116151735 9:113389455-113389455
47 ALAD NM_000031.6(ALAD):c.520C>T (p.Arg174Cys)SNV Uncertain significance 548951 rs758622234 9:116152735-116152735 9:113390455-113390455
48 ALAD NM_000031.6(ALAD):c.715G>A (p.Asp239Asn)SNV Uncertain significance 646872 9:116151804-116151804 9:113389524-113389524
49 ALAD NM_000031.6(ALAD):c.*1832T>CSNV Uncertain significance 913398 9:116148748-116148748 9:113386468-113386468
50 ALAD NM_000031.6(ALAD):c.*1804T>CSNV Uncertain significance 913399 9:116148776-116148776 9:113386496-113386496

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

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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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