Porphyria, Acute Hepatic disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

AHEPP MCID: PRP056 MIFTS: 54	Porphyria, Acute Hepatic (AHEPP) Categories: Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Porphyria, Acute Hepatic

MalaCards integrated aliases for Porphyria, Acute Hepatic:

Name: Porphyria, Acute Hepatic ⁵⁷ ¹² ³⁸

Porphobilinogen Synthase Deficiency ⁵⁷ ⁷³ ²⁸ ⁵ ⁷¹

Lead Poisoning ⁵⁷ ⁵⁸ ⁷⁵ ⁴¹

Delta-Aminolevulinate Dehydratase Deficiency ⁵⁷ ⁷³

Acute Hepatic Porphyria ⁵⁸ ⁷³

Alad Deficiency ⁵⁷ ⁷³

Doss Porphyria ⁵⁷ ⁷³

Porphyria Due to Delta-Aminolevulinate Dehydratase Deficiency ⁵⁸

Porphyria Due to Ala Dehydratase Deficiency ⁵⁸

Lead Poisoning, Susceptibility to ⁵⁷

Porphyria Due to Alad Deficiency ⁵⁸

Lead Intoxication ⁵⁸

Porphyria of Doss ⁵⁸

Porphyria, Ala-D ⁷⁵

Porphyria, Alad ⁵⁷

Alad Porphyria ⁵⁸

Porphyria Alad ⁷³

Saturnism ⁵⁸

Plumbism ⁵⁸

Ahepp ⁷³

Characteristics:

Inheritance:

Porphyria, Acute Hepatic: Autosomal recessive ⁵⁷

Acute Hepatic Porphyria: Autosomal dominant,Autosomal recessive ⁵⁸

Porphyria Due to Ala Dehydratase Deficiency: Autosomal recessive ⁵⁸

Prevelance:

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

Age Of Onset:

Lead Poisoning: All ages ⁵⁸

Acute Hepatic Porphyria: All ages ⁵⁸

Porphyria Due to Ala Dehydratase Deficiency: Adolescent,Childhood ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Liver diseases Nephrological diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of porphyrin and bilirubin metabolism

Other porphyria

Injury, poisoning and certain other consequences of external causes

Toxic effects of substances chiefly nonmedicinal as to source

Toxic effect of metals

Toxic effect: Lead and its compounds

Orphanet: ⁵⁸

Rare neurological diseases

Rare hepatic diseases

Rare renal diseases

Rare skin diseases

Inborn errors of metabolism

External Ids:

OMIM® ⁵⁷ 612740

MeSH ⁴³ D017094

ICD10 via Orphanet ³² E80.2 T56.0

UMLS via Orphanet ⁷² C0023176 C0268328

Orphanet ⁵⁸ ORPHA100924 ORPHA330015 ORPHA95157

MedGen ⁴⁰ C0268328 C2748608

SNOMED-CT via HPO ⁶⁹ 103276001 112625008 123526007 more

UMLS ⁷¹ C0268328

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Summaries for Porphyria, Acute Hepatic

MedlinePlus: ⁴¹ Lead is a metal that occurs naturally in the earth's crust. Lead can be found in all parts of our environment. Much of it comes from human activities such as mining and manufacturing. Lead used to be in paint; older houses may still have lead paint. You could be exposed to lead by: Eating food or drinking water that contains lead. Water pipes in older homes may contain lead. Working in a job where lead is used Using lead in a hobby, such as making stained glass or lead-glazed pottery Using folk remedies such as herbs or foods that contain lead Breathing air, drinking water, eating food, or swallowing or touching dirt that contains lead can cause many health problems. Lead can affect almost every organ and system in your body. In adults, lead can increase blood pressure and cause infertility, nerve disorders, and muscle and joint pain. It can also make you irritable and affect your ability to concentrate and remember. Lead is especially dangerous for children. A child who swallows large amounts of lead may develop anemia, severe stomachache, muscle weakness, and brain damage. Even at low levels, lead can affect a child's mental and physical growth. Agency for Toxic Substances Disease Registry

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

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

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

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

UniProtKB/Swiss-Prot: ⁷³ A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.

OMIM®: ⁵⁷ ALAD porphyria is a rare autosomal recessive disorder that has been reported and confirmed by genetic analysis in only 5 patients (Jaffe and Stith, 2007). (612740) (Updated 08-Dec-2022)

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

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

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Related Diseases for Porphyria, Acute Hepatic

Diseases in the Porphyria, Acute Hepatic family:

Chronic Hepatic Porphyria

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

(show top 50) (show all 340)

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

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

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Symptoms & Phenotypes for Porphyria, Acute Hepatic

Human phenotypes related to Porphyria, Acute Hepatic:

⁵⁸ ³⁰ (show top 50) (show all 109)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
vomiting
abdominal colic

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

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

Muscle Soft Tissue:
hypotonia
muscle weakness

Hematology:
hemolytic anemia
porphyria

Respiratory Lung:
respiratory paralysis

Clinical features from OMIM®:

612740 (Updated 08-Dec-2022)

UMLS symptoms related to Porphyria, Acute Hepatic:

muscle weakness; vomiting

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Drugs & Therapeutics for Porphyria, Acute Hepatic

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

(show all 29)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Ethanol

Approved

Phase 4

64-17-5

702

Pharmaceutical Solutions

Phase 4

Losartan

Approved

Phase 1

114798-26-4

3961

Caffeine

Approved

Phase 1

58-08-2

2519

Esomeprazole

Approved, Investigational, Vet_approved

Phase 1

73590-58-6, 119141-88-7

9568614 4594

Midazolam

Approved, Illicit

Phase 1

59467-70-8

4192

Dextromethorphan

Approved

Phase 1

125-71-3

5362449 5360696

Edetate calcium disodium anhydrous

Approved, Vet_approved

62-33-9, 60-00-4

6049

Pentetic acid

Approved

67-43-6

Dimercaptosuccinic acid

Approved, Experimental

304-55-2, 2418-14-6

9354

Ferrous fumarate

Approved

141-01-5

Zinc cation

Approved, Experimental, Investigational

7440-66-6, 23713-49-7

32051

Zinc oxide

Approved

1314-13-2

Iodine

Approved, Investigational

7553-56-2

807

Iron

Approved

7439-89-6

29936

Aminolevulinic acid

Approved

106-60-5

137

Cholecalciferol

Approved, Nutraceutical, Vet_approved

67-97-0, 1406-16-2

5280795 10883523

Cadexomer iodine

Experimental

94820-09-4

Calcium, Dietary

Radiation-Protective Agents

Trace Elements

Micronutrients

Sunscreening Agents

Vitamins

Calciferol

Adrenergic Agents

Dermatologic Agents

Photosensitizing Agents

Calcium

Nutraceutical

7440-70-2

271

Interventional clinical trials:

(show all 34)

#	Name	Status	NCT ID	Phase	Drugs
1	Effectiveness of the Homeopathic Preparation Plumbum Metallicum in Decreasing Blood Levels in Exposed Workers.	Completed	NCT00931905	Phase 4	Homeopathic medication Plumbum metallicum
2	ENVISION: A Phase 3 Randomized, Double-blind, Placebo-Controlled Multicenter Study With an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients With Acute Hepatic Porphyrias	Completed	NCT03338816	Phase 3	Givosiran;Placebo
3	A Phase 2/3 Trial of d-Penicillamine Chelation in Lead-Poisoned Children	Withdrawn	NCT00552630	Phase 2, Phase 3	placebo
4	A Drug-Drug Interaction Study to Investigate the Effect of Givosiran on the Pharmacokinetics (PK) of Midazolam, Caffeine, Losartan, Omeprazole, and Dextromethorphan in Patients With Acute Intermittent Porphyria (AIP) Who Are Asymptomatic High Excreters (ASHE)	Completed	NCT03505853	Phase 1	Givosiran;5-probe cocktail
5	Environmental Exposure to Lead and Its Health Effects on Patients With Maintenance Hemodialysis	Unknown status	NCT00926406		lead chelation therapy
6	Plan for Testing Fingerstick Bloods on Magellan Systems	Unknown status	NCT03256383
7	The Combined Effect of 2,3-Dimercaptosuccinic Acid and Multi-Nutrients on Children in Lead Poisoning	Completed	NCT00374894		2,3-dimercaptosuccinic acid
8	Lead Mobilization & Bone Turnover in Pregnancy/Lactation	Completed	NCT00011726
9	Effects of Iron and Zinc Supplementation on Neuropsychological and Educational Achievement in Lead-exposed School Children	Completed	NCT02346188
10	Lead, Endocrine Disruption and Reproductive Outcomes	Completed	NCT00023101
11	Human Sperm Zona Acceptor: Environmental Effects	Completed	NCT00012480
12	Social Network Based Intervention to Reduce Lead Exposure Among Native American Children	Completed	NCT00011661
13	Does Lead Burden Alter Neuropsychological Development?	Completed	NCT00000104
14	Environmental Contaminants and Infant Development	Completed	NCT00013858
15	Early Exposure to Lead and Adult Antisocial Outcomes	Completed	NCT00285610
16	Identifying Residential Hazards Using Home Test Kits	Completed	NCT00285532
17	Exposure, Dose, Body Burden and Health Effects of Lead	Completed	NCT00013819
18	Bone Lead Levels and College Achievement Scores	Completed	NCT00014885
19	Early Exposure to Lead and Adolescent Development	Completed	NCT00011674
20	Randomized Study of Succimer (Dimercaptosuccinic Acid) on Growth of Lead-Poisoned Children	Completed	NCT00004838		succimer
21	Dietary Patterns and Variability in Blood Lead Concentrations Among Pregnant British Women	Completed	NCT03408275
22	Interactions of Lead Intoxication and Iron Deficiency in Morocco: The Effects of Iron Fortification With and Without NaEDTA on Lead Burden, Iron Status and Cognition in Children	Completed	NCT01573013
23	Child Healthcare Excellence Center - A University-Practice-Public Partnership (CHEC-UPPP)	Completed	NCT01739166
24	A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks	Completed	NCT02240784
25	Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria	Completed	NCT03906214
26	Vitamin D Deficiency, Iodine Deficiency and Lead Levels in Haitian Infants and Children.	Completed	NCT02301520
27	RECLEAN Pilot Study: Reducing Lead in the Homes of Construction Workers	Recruiting	NCT04498845
28	ELEVATE, a Global Observational Longitudinal Prospective Registry of Patients With Acute Hepatic Porphyria (AHP)	Recruiting	NCT04883905
29	Estimating the Frequency and Neuro-Hormonal Characteristics of Acute Hepatic Porphyria in Postural Tachycardia Syndrome	Recruiting	NCT05344599
30	Evaluation of the Impact of a Personal and Domestic Hygiene Intervention on Lead Exposure in a Community Close to a Mine Dump	Enrolling by invitation	NCT05265572
31	Effectiveness of Various Environmental Measures to Eliminate the Risks of Lead Exposure in Infant Lead Poisoning	Not yet recruiting	NCT03640143
32	Prevalence of Acute Hepatic Porphyria in Population With Suggestive Clinical Picture	Not yet recruiting	NCT04923516
33	Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria (AHP)	No longer available	NCT04056481		Givosiran
34	INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP	Terminated	NCT03547297

Search NIH Clinical Center for Porphyria, Acute Hepatic

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Genetic Tests for Porphyria, Acute Hepatic

Genetic tests related to Porphyria, Acute Hepatic:

#	Genetic test	Affiliating Genes
1	Porphobilinogen Synthase Deficiency ²⁸	ALAD

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Anatomical Context for Porphyria, Acute Hepatic

Organs/tissues related to Porphyria, Acute Hepatic:

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

ODiseA: Blood And Bone Marrow

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Publications for Porphyria, Acute Hepatic

Articles related to Porphyria, Acute Hepatic:

(show top 50) (show all 6331)

#	Title	Authors	PMID	Year
1	The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. ⁶² ⁵⁷ ⁵	Doss MO...Sassa S	15303011	2004
2	Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria. ⁶² ⁵⁷ ⁵	Ishida N...Sassa S	1569184	1992
3	Hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes. ⁶² ⁵⁷ ⁵	Sassa S...Kappas A	1905639	1991
4	Enzymatic defect in a child with hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: immunochemical studies. ⁶² ⁵⁷ ⁵	Fujita H...Kappas A	3684400	1987
5	New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation. ⁶² ⁵⁷ ⁵	Doss M...Schmid H	513604	1979
6	delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. ⁵⁷ ⁵	Plewinska M...Desnick RJ	2063868	1991
7	ALAD porphyria is a conformational disease. ⁶² ⁵⁷	Jaffe EK...Stith L	17236137	2007
8	delta-Aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency. ⁶² ⁵⁷	Doss M...Goedde HW	3780034	1986
9	Instability of hematin used in the treatment of acute hepatic porphyria. ⁶² ⁵⁷	Goetsch CA...Bissell DM	3724815	1986
10	Lead poisoning in inherited delta-aminolevulinic acid dehydratase deficiency. ⁶² ⁵⁷	Doss M...Stoeppler M	6427116	1984
11	Acute lead poisoning in inherited porphobilinogen synthase (delta-aminolevulinic acid dehydrase) deficiency. ⁶² ⁵⁷	Doss M...Muller WA	7104498	1982
12	New type of acute porphyria with porphobilinogen synthase (delta-aminolevulinic acid dehydratase) defect in the homozygous state. ⁶² ⁵⁷	Doss M...Brandt A	7067077	1982
13	Hereditary prophobilinogen synthase deficiency in human associated with acute hepatic porphyria. ⁶² ⁵⁷	Brandt A...Doss M	7287003	1981
14	Acute hepatic porphyria syndrome with porphobilinogen synthase defect. ⁶² ⁵⁷	Doss M...Schneider J	7450139	1980
15	Inherited deficiency of delta-aminolevulinic acid dehydratase. ⁶² ⁵⁷	Bird TD...Labbe RF	517518	1979
16	Biochemical diagnosis of an hereditary aminolaevulinate dehydratase deficiency in a 63-year-old man. ⁵⁷	Hassoun A...Martin JJ	2600550	1989
17	Aminolaevulinate dehydratase porphyria in infancy. A clinical and biochemical study. ⁵⁷	Thunell S...Lundgren J	3559484	1987
18	Hereditary hepatic porphyria with delta aminolevulinate dehydrase deficiency: immunologic characterization of the non-catalytic enzyme. ⁵⁷	de Verneuil H...Nordmann Y	3882553	1985
19	Porphobilinogen-synthase (delta-aminolevulinic acid dehydratase) deficiency in bone marrow cells of two patients with porphobilinogen-synthase defect acute porphyria. ⁵⁷	Doss M...Schneider J	6887758	1983
20	Effect of lead on -aminolevulinic acid dehydrase activity in red blood cells. ⁵⁷	Haeger-Aronsen B...Fristedt BI	4109097	1971
21	Blood lead levels in 2018/2019 compared to 1987/1988 in the German population-based KORA study. ⁴¹	Rooney JP...Peters A	36041540	2022
22	'As safe as houses; the risk of childhood lead exposure from housing in England and implications for public health'. ⁴¹	Crabbe H...Busby A	36352379	2022
23	Implications for food safety of the size and location of fragments of lead shotgun pellets embedded in hunted carcasses of small game animals intended for human consumption. ⁴¹	Green R...Smithson K	35994440	2022
24	A comprehensive review of the heavy metal issues regarding commercial vanadium‑titanium-based SCR catalyst. ⁶²	Wu YW...Lu Q	36302402	2023
25	Lead Levels in Spices From Market Basket and Home Lead Investigation Samples in North Carolina. ⁶²	Angelon-Gaetz KA...Wilson M	35060792	2023
26	Assessing the effect of four types of direct mail messages to promote the uptake of residential lead remediation funds. ⁶²	Okatch H...Olawole F	36203491	2022
27	Narrative review of lead poisoning in humans caused by industrial activities and measures compatible with sustainable industrial activities in Republic of Zambia. ⁶²	Nakata H...Ishizuka M	35961390	2022
28	Childhood Lead Poisoning 1970-2022: Charting Progress and Needed Reforms. ⁶²	Jacobs DE...Brown MJ	36442070	2022
29	Imported Ayurvedic Medicine and Lead Poisoning. ⁶²	Horiuchi T...Hokari R	35342137	2022
30	Chronic lead exposure disrupts neurometabolic activity in mouse brain: An ex vivo1H-[13C]-NMR study. ⁶²	Varadarajan KS...Patel AB	36368548	2022
31	ALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias. ⁶²	San Juan I...Millet O	36241173	2022
32	Prevalence of Undiagnosed Acute Hepatic Porphyria in Cyclic Vomiting Syndrome and Overlap in Clinical Symptoms. ⁶²	Cheng S...Venkatesan T	36380150	2022
33	Lead in traditional and complementary medicine: a systematic review. ⁶²	McRae A...Islam MZ	36322973	2022
34	Biomimetic Antidote Nanoparticles: a Novel Strategy for Chronic Heavy Metal Poisoning. ⁶²	Wang H...Han C	36451071	2022
35	Spatiotemporal variation in the blood lead levels of Chinese children with the environmental Kuznets curve trend. ⁶²	Liu Y...Du Q	36425413	2022
36	Glutamine Is a Superior Protector Against Lead-Induced Hepatotoxicity in Rats via Antioxidant, Anti-inflammatory, and Chelating Properties. ⁶²	Mahdavifard S...Sekhavatmand N	35478087	2022
37	Realizing the promise of long-acting antiretroviral treatment strategies for individuals with HIV and adherence challenges: an illustrative case series. ⁶²	Kilcrease C...Agwu AL	36435793	2022
38	Evaluation of blood lead levels in opium addicts and healthy control group using novel deep eutectic solvent based dispersive liquid-liquid microextraction followed by GFAAS. ⁶²	Jouybari TA...Fattahi N	36344888	2022
39	EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms. ⁶²	Cassiman D...Ivanova A	36069414	2022
40	Molecular mechanisms of mechanical function changes of the rat myocardium under subchronic lead exposure. ⁶²	Gerzen OP...Nikitina LV	36179994	2022
41	Profile of Selected Mineral Elements in Tibiotarsal Bone of the White-Tailed Sea Eagle in Its Natural Habitat. ⁶²	Ruszkowski JJ...Zaworska-Zakrzewska A	36290130	2022
42	Influence of Parameters and Performance Evaluation of 3D-Printed Tungsten Mixed Filament Shields. ⁶²	Yoon MS...Kwon KT	36297879	2022
43	Retained bullets and lead toxicity: a systematic review. ⁶²	Kershner EK...Cumpston KL	36074021	2022
44	Small interfering RNA: Discovery, pharmacology and clinical development-An introductory review. ⁶²	Ranasinghe P...Webb DJ	36250252	2022
45	Estimation of blood lead levels in the French population using two complementary approaches: Esteban (2014-2016) as part of the human biomonitoring program and the national surveillance system for childhood lead poisoning (2015-2018). ⁶²	Oleko A...Fillol C	35679905	2022
46	Lead poisoning of backyard chickens: Implications for urban gardening and food production. ⁶²	Yazdanparast T...Taylor MP	35863713	2022
47	Identifying the origin of lead poisoning in white-backed vulture (Gyps africanus) chicks at an important South African breeding colony: a stable lead isotope approach. ⁶²	van den Heever L...McKechnie AE	36166116	2022
48	A Historical Perspective on the CDC Childhood Lead Poisoning Prevention Program. ⁶²	Allwood PB...Svendsen ER	36179298	2022
49	Fabrication of 2D nanosheet sorbents through metastable emulsion droplets and subsequent two-step grafting polymerization for efficient blood lead removal in vitro. ⁶²	Chen X...Pan J	35816801	2022
50	Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran. ⁶²	Ventura P...Petrides PE	35929959	2022

Sources

Genes for Porphyria, Acute Hepatic

Genes related to Porphyria, Acute Hepatic (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ALAD	Aminolevulinate Dehydratase	Protein Coding	1707.8	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Susceptibility factor ⁵⁷ GeneCards inferred via : Disorders (show sections)	513604 1569184 1905639 (more) 2063868 3684400 15303011 16343966

Sources

Variations for Porphyria, Acute Hepatic

ClinVar genetic disease variations for Porphyria, Acute Hepatic:

⁵ (show top 50) (show all 97)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ALAD	NM_000031.6(ALAD):c.397G>A (p.Gly133Arg)	SNV	Pathogenic	16862	rs121912980	GRCh37: 9:116153078-116153078 GRCh38: 9:113390798-113390798
2	ALAD	NM_000031.6(ALAD):c.718C>T (p.Arg240Trp)	SNV	Pathogenic	16865	rs121912982	GRCh37: 9:116151801-116151801 GRCh38: 9:113389521-113389521
3	ALAD	NM_000031.6(ALAD):c.820G>A (p.Ala274Thr)	SNV	Pathogenic	16866	rs121912983	GRCh37: 9:116151368-116151368 GRCh38: 9:113389088-113389088
4	ALAD	NM_000031.6(ALAD):c.165-11C>A	SNV	Pathogenic	16868		GRCh37: 9:116153914-116153914 GRCh38: 9:113391634-113391634
5	ALAD	NM_000031.6(ALAD):c.165-11C>T	SNV	Pathogenic	16869	rs749066913	GRCh37: 9:116153914-116153914 GRCh38: 9:113391634-113391634
6	ALAD	NM_000031.6(ALAD):c.823G>A (p.Val275Met)	SNV	Pathogenic	16863	rs121912981	GRCh37: 9:116151365-116151365 GRCh38: 9:113389085-113389085
7	ALAD	NM_000031.6(ALAD):c.*760T>C	SNV	Uncertain Significance	915040	rs1827430851	GRCh37: 9:116149820-116149820 GRCh38: 9:113387540-113387540
8	ALAD	NM_000031.6(ALAD):c.715-14C>A	SNV	Uncertain Significance	364644	rs201135240	GRCh37: 9:116151818-116151818 GRCh38: 9:113389538-113389538
9	ALAD	NM_000031.6(ALAD):c.931+15G>A	SNV	Uncertain Significance	364641	rs886063364	GRCh37: 9:116151242-116151242 GRCh38: 9:113388962-113388962
10	ALAD	NM_000031.6(ALAD):c.*1322G>A	SNV	Uncertain Significance	914516	rs11789221	GRCh37: 9:116149258-116149258 GRCh38: 9:113386978-113386978
11	ALAD	NM_000031.6(ALAD):c.*1280G>C	SNV	Uncertain Significance	915035	rs190137021	GRCh37: 9:116149300-116149300 GRCh38: 9:113387020-113387020
12	ALAD	NM_000031.6(ALAD):c.*1280G>A	SNV	Uncertain Significance	915036	rs190137021	GRCh37: 9:116149300-116149300 GRCh38: 9:113387020-113387020
13	ALAD	NM_000031.6(ALAD):c.*1007G>A	SNV	Uncertain Significance	915037	rs8177823	GRCh37: 9:116149573-116149573 GRCh38: 9:113387293-113387293
14	ALAD	NM_000031.6(ALAD):c.*920C>T	SNV	Uncertain Significance	915038	rs1827424865	GRCh37: 9:116149660-116149660 GRCh38: 9:113387380-113387380
15	ALAD	NM_000031.6(ALAD):c.474C>G (p.Ala158=)	SNV	Uncertain Significance	915073	rs1340298448	GRCh37: 9:116152880-116152880 GRCh38: 9:113390600-113390600
16	ALAD	NM_000031.6(ALAD):c.874G>A (p.Gly292Arg)	SNV	Uncertain Significance	1033602	rs200781693	GRCh37: 9:116151314-116151314 GRCh38: 9:113389034-113389034
17	ALAD	NM_000031.6(ALAD):c.724G>A (p.Val242Ile)	SNV	Uncertain Significance	364643	rs200180791	GRCh37: 9:116151795-116151795 GRCh38: 9:113389515-113389515
18	ALAD	NM_000031.6(ALAD):c.715G>A (p.Asp239Asn)	SNV	Uncertain Significance	646872	rs752186527	GRCh37: 9:116151804-116151804 GRCh38: 9:113389524-113389524
19	ALAD	NM_000031.6(ALAD):c.*127C>T	SNV	Uncertain Significance	364638	rs561104906	GRCh37: 9:116150453-116150453 GRCh38: 9:113388173-113388173
20	ALAD	NM_000031.6(ALAD):c.501G>A (p.Pro167=)	SNV	Uncertain Significance	364647	rs376714503	GRCh37: 9:116152754-116152754 GRCh38: 9:113390474-113390474
21	ALAD	NM_000031.6(ALAD):c.*1464A>G	SNV	Uncertain Significance	364627	rs559359572	GRCh37: 9:116149116-116149116 GRCh38: 9:113386836-113386836
22	ALAD	NM_000031.6(ALAD):c.*676dup	DUP	Uncertain Significance	364630	rs532401659	GRCh37: 9:116149903-116149904 GRCh38: 9:113387623-113387624
23	ALAD	NM_000031.6(ALAD):c.*1915del	DEL	Uncertain Significance	364619	rs886063356	GRCh37: 9:116148665-116148665 GRCh38: 9:113386385-113386385
24	ALAD	NM_000031.6(ALAD):c.459_463del	DEL	Uncertain Significance	364633	rs886063361	GRCh37: 9:116150117-116150121 GRCh38: 9:113387837-113387841
25	ALAD	NM_000031.6(ALAD):c.*1787A>C	SNV	Uncertain Significance	913401	rs1588080129	GRCh37: 9:116148793-116148793 GRCh38: 9:113386513-113386513
26	ALAD	NM_000031.6(ALAD):c.*363G>A	SNV	Uncertain Significance	913437	rs576008526	GRCh37: 9:116150217-116150217 GRCh38: 9:113387937-113387937
27	ALAD	NM_000031.6(ALAD):c.*234G>A	SNV	Uncertain Significance	913439	rs1023159630	GRCh37: 9:116150346-116150346 GRCh38: 9:113388066-113388066
28	ALAD	NM_000031.6(ALAD):c.*12C>T	SNV	Uncertain Significance	913440	rs1827462434	GRCh37: 9:116150568-116150568 GRCh38: 9:113388288-113388288
29	ALAD	NM_000031.6(ALAD):c.-70G>T	SNV	Uncertain Significance	913490	rs774433320	GRCh37: 9:116155909-116155909 GRCh38: 9:113393629-113393629
30	ALAD	NM_000031.6(ALAD):c.910A>G (p.Met304Val)	SNV	Uncertain Significance	913817	rs1588081960	GRCh37: 9:116151278-116151278 GRCh38: 9:113388998-113388998
31	ALAD	NM_000031.6(ALAD):c.870G>A (p.Gln290=)	SNV	Uncertain Significance	913818	rs759917153	GRCh37: 9:116151318-116151318 GRCh38: 9:113389038-113389038
32	ALAD	NM_000031.6(ALAD):c.801+14C>T	SNV	Uncertain Significance	913819	rs369933664	GRCh37: 9:116151704-116151704 GRCh38: 9:113389424-113389424
33	ALAD	NM_000031.6(ALAD):c.784C>T (p.Arg262Trp)	SNV	Uncertain Significance	546208	rs777485356	GRCh37: 9:116151735-116151735 GRCh38: 9:113389455-113389455
34	ALAD	NM_000031.6(ALAD):c.770A>G (p.Tyr257Cys)	SNV	Uncertain Significance	913820	rs769181980	GRCh37: 9:116151749-116151749 GRCh38: 9:113389469-113389469
35	ALAD	NM_000031.6(ALAD):c.-75-11A>G	SNV	Uncertain Significance	913865	rs187909805	GRCh37: 9:116155925-116155925 GRCh38: 9:113393645-113393645
36	ALAD	NM_000031.6(ALAD):c.*1671A>T	SNV	Uncertain Significance	914513	rs1827403039	GRCh37: 9:116148909-116148909 GRCh38: 9:113386629-113386629
37	ALAD	NM_000031.6(ALAD):c.-76+15G>T	SNV	Uncertain Significance	364659	rs756965057	GRCh37: 9:116163477-116163477 GRCh38: 9:113401197-113401197
38	ALAD	NM_000031.6(ALAD):c.940A>G (p.Ile314Val)	SNV	Uncertain Significance	364640	rs557510313	GRCh37: 9:116150633-116150633 GRCh38: 9:113388353-113388353
39	ALAD	NM_000031.6(ALAD):c.*1864A>C	SNV	Uncertain Significance	364620	rs886063357	GRCh37: 9:116148716-116148716 GRCh38: 9:113386436-113386436
40	ALAD	NM_000031.6(ALAD):c.*381G>A	SNV	Uncertain Significance	364637	rs886063363	GRCh37: 9:116150199-116150199 GRCh38: 9:113387919-113387919
41	ALAD	NM_000031.6(ALAD):c.439C>T (p.Arg147Cys)	SNV	Uncertain Significance	364649	rs777664535	GRCh37: 9:116152915-116152915 GRCh38: 9:113390635-113390635
42	ALAD	NM_000031.6(ALAD):c.521G>A (p.Arg174His)	SNV	Uncertain Significance	364646	rs750462706	GRCh37: 9:116152734-116152734 GRCh38: 9:113390454-113390454
43	ALAD	NM_000031.6(ALAD):c.1A>G (p.Met1Val)	SNV	Uncertain Significance	364657	rs752500552	GRCh37: 9:116155839-116155839 GRCh38: 9:113393559-113393559
44	ALAD	NM_000031.6(ALAD):c.264C>T (p.Asp88=)	SNV	Uncertain Significance	364652	rs377534006	GRCh37: 9:116153211-116153211 GRCh38: 9:113390931-113390931
45	ALAD	NM_000031.6(ALAD):c.*422G>T	SNV	Uncertain Significance	364635	rs41276805	GRCh37: 9:116150158-116150158 GRCh38: 9:113387878-113387878
46	ALAD	NM_000031.6(ALAD):c.*1470G>A	SNV	Uncertain Significance	364626	rs886063360	GRCh37: 9:116149110-116149110 GRCh38: 9:113386830-113386830
47	ALAD	NM_000031.6(ALAD):c.*1675C>T	SNV	Uncertain Significance	364623	rs756771103	GRCh37: 9:116148905-116148905 GRCh38: 9:113386625-113386625
48	ALAD	NM_000031.6(ALAD):c.*1631G>A	SNV	Uncertain Significance	364624	rs886063359	GRCh37: 9:116148949-116148949 GRCh38: 9:113386669-113386669
49	ALAD	NM_000031.6(ALAD):c.16G>A (p.Val6Ile)	SNV	Uncertain Significance	364655	rs766501537	GRCh37: 9:116155824-116155824 GRCh38: 9:113393544-113393544
50	ALAD	NM_000031.6(ALAD):c.*106C>G	SNV	Uncertain Significance	364639	rs8177820	GRCh37: 9:116150474-116150474 GRCh38: 9:113388194-113388194

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

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	ALAD	p.Gly133Arg	VAR_003634	rs121912980
2	ALAD	p.Arg240Trp	VAR_003635	rs121912982
3	ALAD	p.Ala274Thr	VAR_003636	rs121912983
4	ALAD	p.Val275Met	VAR_003637	rs121912981
5	ALAD	p.Val153Met	VAR_020974	rs1554740221