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AHEPP
MCID: PRP056
MIFTS: 48

Porphyria, Acute Hepatic (AHEPP)

Categories: Blood diseases, Gastrointestinal diseases, Genetic 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 40
Porphobilinogen Synthase Deficiency 57 75 29 6 73
Lead Poisoning 57 76 59 43 3
Delta-Aminolevulinate Dehydratase Deficiency 57 75
Alad Deficiency 57 75
Doss Porphyria 57 75
Porphyria Due to Delta-Aminolevulinate Dehydratase Deficiency 59
Porphyria Due to Ala Dehydratase Deficiency 59
Aminolevulinate, Delta-, Dehydratase 13
Lead Poisoning, Susceptibility to 57
Porphyria Due to Alad Deficiency 59
Acute Hepatic Porphyria 75
Lead Intoxication 59
Porphyria of Doss 59
Porphyria, Ala-D 76
Porphyria, Alad 57
Alad Porphyria 59
Porphyria Alad 75
Saturnism 59
Plumbism 59
Ahepp 75

Characteristics:

Orphanet epidemiological data:

59
lead poisoning
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/1000000 (France); Age of onset: Childhood;
porphyria due to ala dehydratase deficiency
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
porphyria, acute hepatic:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Nephrological diseases Skin diseases Gastrointestinal diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism


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Summaries for Porphyria, Acute Hepatic

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MedlinePlus : 43 Lead is a metal that occurs naturally in the earth's crust. Lead can be found in all parts of our environment. Much of it comes from human activities such as mining and manufacturing. Lead used to be in paint; older houses may still have lead paint. You could be exposed to lead by Eating food or drinking water that contains lead. Water pipes in older homes may contain lead. Working in a job where lead is used Using lead in a hobby, such as making stained glass or lead-glazed pottery Using folk remedies such as herbs or foods that contain lead Breathing air, drinking water, eating food, or swallowing or touching dirt that contains lead can cause many health problems. Lead can affect almost every organ and system in your body. In adults, lead can increase blood pressure and cause infertility, nerve disorders, and muscle and joint pain. It can also make you irritable and affect your ability to concentrate and remember. Lead is especially dangerous for children. A child who swallows large amounts of lead may develop anemia, severe stomachache, muscle weakness, and brain damage. Even at low levels, lead can affect a child's mental and physical growth. Agency for Toxic Substances Disease Registry

MalaCards based summary : Porphyria, Acute Hepatic, also known as porphobilinogen synthase deficiency, is related to coproporphyria, hereditary 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 Dextromethorphan and Caffeine have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and bone, and related phenotypes are seizures and constipation

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)

CDC : 3 Today at least 4 million households have children living in them that are being exposed to high levels of lead. There are approximately half a million U.S. children ages 1-5 with blood lead levels above 5 micrograms per deciliter (µg/dL), the reference level at which CDC recommends public health actions be initiated.

UniProtKB/Swiss-Prot : 75 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 : 76 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 related to Porphyria, Acute Hepatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 coproporphyria, hereditary 11.5
2 aminolevulinic acid dehydratase deficiency porphyria 11.4
3 porphyria variegata 11.3
4 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 11.1
5 hypoaldosteronism 10.9
6 hyperphenylalaninemia due to dehydratase deficiency 10.5
7 pica disease 10.3
8 hepatocellular carcinoma 10.1
9 porphyria 10.1
10 renal cell carcinoma, nonpapillary 10.1
11 uveitis 10.1
12 myxedema 10.0
13 renal hypertension 10.0
14 factitious disorder 10.0
15 porphyria, acute intermittent 10.0
16 asthma 9.9
17 iron metabolism disease 9.9
18 acute porphyria 9.9
19 antipyrine metabolism 9.9
20 status epilepticus 9.9
21 protoporphyria, erythropoietic, 1 9.8
22 multiple sclerosis 9.8
23 pyle disease 9.8
24 impotence 9.8
25 constipation 9.8
26 infertility 9.8
27 aminoaciduria 9.8
28 encephalopathy 9.8
29 myeloperoxidase deficiency 9.7
30 pseudoarthrosis 9.7
31 iron deficiency anemia 9.7
32 sensory peripheral neuropathy 9.7
33 periodontal disease 9.7
34 hyperglycemia 9.7
35 aminolevulinate dehydratase deficiency porphyria 9.7
36 precocious puberty 9.7
37 hypoxia 9.7
38 amyotrophic lateral sclerosis 1 9.7
39 osteoporosis 9.7
40 glanzmann thrombasthenia 9.7
41 ascaris lumbricoides infection 9.7
42 malaria 9.7
43 osteosclerotic metaphyseal dysplasia 9.7
44 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.7
45 deficiency anemia 9.7
46 brain injury 9.7
47 chronic kidney failure 9.7
48 osteonecrosis 9.7
49 hypophosphatemia 9.7
50 pneumoconiosis 9.7

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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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Porphyria, Acute Hepatic:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
3 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
4 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
5 sensory neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000763
6 psychosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000709
7 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
8 polyneuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001271
9 hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001269
10 motor axonal neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007002
11 muscular hypotonia 32 HP:0001252
12 failure to thrive 32 HP:0001508
13 behavioral abnormality 59 Very frequent (99-80%)
14 vomiting 32 HP:0002013
15 hemolytic anemia 32 HP:0001878
16 paresthesia 32 HP:0003401
17 respiratory paralysis 32 HP:0002203
18 generalized hypotonia 32 HP:0001290
19 abdominal colic 32 HP:0011848
20 elevated urinary delta-aminolevulinic acid 32 HP:0003163
21 very rare 32 HP:0040284

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 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
2
Caffeine Approved Phase 1 58-08-2 2519
3
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
4
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
5
Guaifenesin Approved, Investigational, Vet_approved Phase 1 93-14-1 3516
6
Losartan Approved Phase 1 114798-26-4 3961
7 Neurotransmitter Agents Phase 1
8 Antitussive Agents Phase 1
9 Anti-Ulcer Agents Phase 1
10 Respiratory System Agents Phase 1
11 Proton Pump Inhibitors Phase 1
12 Chlorpheniramine, phenylpropanolamine drug combination Phase 1
13 Excitatory Amino Acid Antagonists Phase 1
14 Antacids Phase 1
15 Gastrointestinal Agents Phase 1
16 Excitatory Amino Acids Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP) Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
2 A Study to Investigate the Interaction Between Givosiran and a 5-probe Drug Cocktail in Patients With Acute Intermittent Porphyria (AIP) Active, not recruiting NCT03505853 Phase 1 Givosiran;5-probe cocktail
3 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
4 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
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Anatomical Context for Porphyria, Acute Hepatic

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MalaCards organs/tissues related to Porphyria, Acute Hepatic:

41
Brain, Liver, Bone, Testes, Skin, Eye, Kidney
Sources

Publications for Porphyria, Acute Hepatic

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Articles related to Porphyria, Acute Hepatic:

(show top 50) (show all 557)
# Title Authors Year
1
Folk prescription for treating rhinitis as a rare cause of childhood lead poisoning: a case series. ( 29980188 )
2018
2
Lead poisoning as final diagnosis in a study of normocytic anemia. ( 30523501 )
2018
3
Pica, Lead Poisoning and Public Health. ( 30131351 )
2018
4
Association between the HOTAIR Polymorphism and Susceptibility to Lead Poisoning in a Chinese Population. ( 30025562 )
2018
5
A new model of the mechanism underlying lead poisoning: SNPs in miRNA target region influence the I'-aminolevulinic acid dehydratase expression level. ( 28960093 )
2017
6
Lead Poisoning: Myoclonus Following Welding Exposure. ( 29364803 )
2017
7
Lead Poisoning Can Be Easily Misdiagnosed as Acute Porphyria and Nonspecific Abdominal Pain. ( 28630774 )
2017
8
Impaired hypothalamic-pituitary-testicular axis activity, spermatogenesis, and sperm function promote infertility in males with lead poisoning. ( 28185602 )
2017
9
Association between Polymorphism of Exportin-5 and Susceptibility to Lead Poisoning in a Chinese Population. ( 28042866 )
2016
10
Chronic lead poisoning magnifies bone detrimental effects in an ovariectomized rat model of postmenopausal osteoporosis. ( 26422677 )
2016
11
Lead poisoning prevention for preschool settings: a program template. ( 25626240 )
2015
12
Using environmental public health tracking to identify community targets for public health actions in childhood lead poisoning in Wisconsin. ( 25621451 )
2015
13
A cluster of lead poisoning among consumers of Ayurvedic medicine. ( 25843124 )
2015
14
Lead poisoning in Nile tilapia (Oreochromis niloticus): oxidant and antioxidant relationship. ( 25732982 )
2015
15
An exploratory analysis to determine priority areas for lead poisoning prevention education programs in Missouri. ( 25796697 )
2015
16
Dysplastic changes in erythroid precursors as a manifestation of lead poisoning: report of a case and review of literature. ( 25755780 )
2015
17
Investigating lead poisoning in children-could surveillance help? ( 25651824 )
2015
18
Lead poisoning and its in vivo biomarkers in Mallard and Coot from two hunting activity areas in Poland. ( 25666052 )
2015
19
Screening for childhood lead poisoning in the industrial region of fez, morocco. ( 25511562 )
2015
20
Peeling Lead Paint Turns Into Poisonous Dust. Guess Where It Ends Up? A Media Campaign to Prevent Childhood Lead Poisoning in New York City. ( 25558876 )
2015
21
Lead poisoning in an infant. ( 24825279 )
2014
22
Congenital lead poisoning: an unusual presentation. ( 24757314 )
2014
23
Lead poisoning in children. ( 25037135 )
2014
24
Lead poisoning mimicking acute porphyria! ( 25653942 )
2014
25
Imagination and public health: the end of lead poisoning in california? ( 25199891 )
2014
26
Primary prevention of lead poisoning: protecting children from unsafe housing. ( 24922160 )
2014
27
Lead poisoning influences TCR-related gene expression patterns in peripheral blood T-lymphocytes of exposed workers. ( 24720682 )
2014
28
Lead poisoning. ( 25220013 )
2014
29
Childhood lead poisoning and the new Centers for Disease Control and Prevention guidelines for lead exposure. ( 24616453 )
2014
30
Ayurvedic Medicine Use and Lead Poisoning in a Child: A Continued Concern in the United States. ( 25305259 )
2014
31
Lead poisoning in children from townships in the vicinity of a lead-zinc mine in Kabwe, Zambia. ( 25303652 )
2014
32
Description of 3,180 Courses of Chelation with Dimercaptosuccinic Acid in Children a8o5 y with Severe Lead Poisoning in Zamfara, Northern Nigeria: A Retrospective Analysis of Programme Data. ( 25291378 )
2014
33
Association of blood lead level with neurological features in 972 children affected by an acute severe lead poisoning outbreak in Zamfara State, northern Nigeria. ( 24740291 )
2014
34
Primary prevention of lead poisoning in children: a cross-sectional study to evaluate state specific lead-based paint risk reduction laws in preventing lead poisoning in children. ( 25380793 )
2014
35
A case of tetraethyl lead poisoning. ( 24706472 )
2014
36
A clinical study of the effects of lead poisoning on the intelligence and neurobehavioral abilities of children. ( 23414525 )
2013
37
Imported occupational lead poisoning: report of four cases. ( 24640829 )
2013
38
A systematic review of screening questionnaires for childhood lead poisoning. ( 22668673 )
2013
39
Unconventional firepower: an unexpected source of lead poisoning. ( 22367334 )
2013
40
Indigenous tooth powders = covert lead poisoning? ( 24552926 )
2013
41
Linking geological and health sciences to assess childhood lead poisoning from artisanal gold mining in Nigeria. ( 23524139 )
2013
42
Unrecorded alcohol and lead poisoning. ( 24262744 )
2013
43
Antioxidant and micronutrient-rich milk formula reduces lead poisoning and related oxidative damage in lead-exposed mice. ( 23537597 )
2013
44
Traditional medicine: a rare cause of lead poisoning in Western countries. ( 24555110 )
2013
45
Editorial role of a clinical biochemist in evaluating the impact of lead poisoning. ( 24381413 )
2013
46
Call for an accurate historical account of childhood lead poisoning prevention. ( 23488517 )
2013
47
An ongoing lack of knowledge about lead poisoning. ( 23947313 )
2013
48
Lead poisoning from Ayurvedic medicines. ( 23799386 )
2013
49
Lead poisoning-induced hypertensive crisis managed by prazosin: a case report. ( 24349754 )
2013
50
Manioc flour consumption as a risk factor for lead poisoning in the Brazilian Amazon. ( 23356650 )
2013
Sources

Variations for Porphyria, Acute Hepatic

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

75
# Symbol AA change Variation ID SNP ID
1 ALAD p.Gly133Arg VAR_003634 rs121912980
2 ALAD p.Arg240Trp VAR_003635 rs121912982
3 ALAD p.Ala274Thr VAR_003636 rs121912983
4 ALAD p.Val275Met VAR_003637 rs121912981
5 ALAD p.Val153Met VAR_020974

ClinVar genetic disease variations for Porphyria, Acute Hepatic:

6 (show top 50) (show all 121)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALAD NM_000031.5(ALAD): c.397G> A (p.Gly133Arg) single nucleotide variant Pathogenic rs121912980 GRCh37 Chromosome 9, 116153078: 116153078
2 ALAD NM_000031.5(ALAD): c.397G> A (p.Gly133Arg) single nucleotide variant Pathogenic rs121912980 GRCh38 Chromosome 9, 113390798: 113390798
3 ALAD NM_000031.5(ALAD): c.823G> A (p.Val275Met) single nucleotide variant Pathogenic rs121912981 GRCh37 Chromosome 9, 116151365: 116151365
4 ALAD NM_000031.5(ALAD): c.823G> A (p.Val275Met) single nucleotide variant Pathogenic rs121912981 GRCh38 Chromosome 9, 113389085: 113389085
5 ALAD NM_000031.5(ALAD): c.177G> C (p.Lys59Asn) single nucleotide variant Likely benign rs1800435 GRCh37 Chromosome 9, 116153891: 116153891
6 ALAD NM_000031.5(ALAD): c.177G> C (p.Lys59Asn) single nucleotide variant Likely benign rs1800435 GRCh38 Chromosome 9, 113391611: 113391611
7 ALAD NM_000031.5(ALAD): c.718C> T (p.Arg240Trp) single nucleotide variant Uncertain significance rs121912982 GRCh37 Chromosome 9, 116151801: 116151801
8 ALAD NM_000031.5(ALAD): c.718C> T (p.Arg240Trp) single nucleotide variant Uncertain significance rs121912982 GRCh38 Chromosome 9, 113389521: 113389521
9 ALAD NM_000031.5(ALAD): c.820G> A (p.Ala274Thr) single nucleotide variant Pathogenic rs121912983 GRCh37 Chromosome 9, 116151368: 116151368
10 ALAD NM_000031.5(ALAD): c.820G> A (p.Ala274Thr) single nucleotide variant Pathogenic rs121912983 GRCh38 Chromosome 9, 113389088: 113389088
11 ALAD ALAD, IVS3AS, C-A, -11 single nucleotide variant Pathogenic
12 ALAD NM_000031.5(ALAD): c.165-11C> T single nucleotide variant Pathogenic rs749066913 GRCh38 Chromosome 9, 113391634: 113391634
13 ALAD NM_000031.5(ALAD): c.165-11C> T single nucleotide variant Pathogenic rs749066913 GRCh37 Chromosome 9, 116153914: 116153914
14 ALAD NM_000031.5(ALAD): c.*1950G> A single nucleotide variant Benign rs818706 GRCh37 Chromosome 9, 116148630: 116148630
15 ALAD NM_000031.5(ALAD): c.*1950G> A single nucleotide variant Benign rs818706 GRCh38 Chromosome 9, 113386350: 113386350
16 ALAD NM_000031.5(ALAD): c.*1675C> T single nucleotide variant Uncertain significance rs756771103 GRCh37 Chromosome 9, 116148905: 116148905
17 ALAD NM_000031.5(ALAD): c.*1675C> T single nucleotide variant Uncertain significance rs756771103 GRCh38 Chromosome 9, 113386625: 113386625
18 ALAD NM_000031.5(ALAD): c.*871C> A single nucleotide variant Likely benign rs8177822 GRCh37 Chromosome 9, 116149709: 116149709
19 ALAD NM_000031.5(ALAD): c.*871C> A single nucleotide variant Likely benign rs8177822 GRCh38 Chromosome 9, 113387429: 113387429
20 ALAD NM_000031.5(ALAD): c.*471C> T single nucleotide variant Benign rs818708 GRCh37 Chromosome 9, 116150109: 116150109
21 ALAD NM_000031.5(ALAD): c.*471C> T single nucleotide variant Benign rs818708 GRCh38 Chromosome 9, 113387829: 113387829
22 ALAD NM_000031.5(ALAD): c.*400G> A single nucleotide variant Uncertain significance rs557867804 GRCh37 Chromosome 9, 116150180: 116150180
23 ALAD NM_000031.5(ALAD): c.*400G> A single nucleotide variant Uncertain significance rs557867804 GRCh38 Chromosome 9, 113387900: 113387900
24 ALAD NM_000031.5(ALAD): c.463T> C (p.Leu155=) single nucleotide variant Likely benign rs8177807 GRCh37 Chromosome 9, 116152891: 116152891
25 ALAD NM_000031.5(ALAD): c.463T> C (p.Leu155=) single nucleotide variant Likely benign rs8177807 GRCh38 Chromosome 9, 113390611: 113390611
26 ALAD NM_000031.5(ALAD): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance rs752500552 GRCh37 Chromosome 9, 116155839: 116155839
27 ALAD NM_000031.5(ALAD): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance rs752500552 GRCh38 Chromosome 9, 113393559: 113393559
28 ALAD NM_000031.5(ALAD): c.-155C> G single nucleotide variant Likely benign rs7026518 GRCh37 Chromosome 9, 116163571: 116163571
29 ALAD NM_000031.5(ALAD): c.-155C> G single nucleotide variant Likely benign rs7026518 GRCh38 Chromosome 9, 113401291: 113401291
30 ALAD NM_000031.5(ALAD): c.-156_-155dupCC duplication Likely benign rs143518565 GRCh37 Chromosome 9, 116163571: 116163572
31 ALAD NM_000031.5(ALAD): c.-156_-155dupCC duplication Likely benign rs143518565 GRCh38 Chromosome 9, 113401291: 113401292
32 ALAD NM_000031.5(ALAD): c.-197G> T single nucleotide variant Uncertain significance rs376588496 GRCh37 Chromosome 9, 116163613: 116163613
33 ALAD NM_000031.5(ALAD): c.-197G> T single nucleotide variant Uncertain significance rs376588496 GRCh38 Chromosome 9, 113401333: 113401333
34 ALAD NM_000031.5(ALAD): c.*1741G> A single nucleotide variant Uncertain significance rs886063358 GRCh37 Chromosome 9, 116148839: 116148839
35 ALAD NM_000031.5(ALAD): c.*1741G> A single nucleotide variant Uncertain significance rs886063358 GRCh38 Chromosome 9, 113386559: 113386559
36 ALAD NM_000031.5(ALAD): c.*1631G> A single nucleotide variant Uncertain significance rs886063359 GRCh37 Chromosome 9, 116148949: 116148949
37 ALAD NM_000031.5(ALAD): c.*1631G> A single nucleotide variant Uncertain significance rs886063359 GRCh38 Chromosome 9, 113386669: 113386669
38 ALAD NM_000031.5(ALAD): c.*1511T> C single nucleotide variant Uncertain significance rs745513769 GRCh37 Chromosome 9, 116149069: 116149069
39 ALAD NM_000031.5(ALAD): c.*1511T> C single nucleotide variant Uncertain significance rs745513769 GRCh38 Chromosome 9, 113386789: 113386789
40 ALAD NM_000031.5(ALAD): c.*676dupA duplication Uncertain significance rs532401659 GRCh37 Chromosome 9, 116149904: 116149904
41 ALAD NM_000031.5(ALAD): c.*676dupA duplication Uncertain significance rs532401659 GRCh38 Chromosome 9, 113387624: 113387624
42 ALAD NM_000031.5(ALAD): c.*459_*463delGTTGA deletion Uncertain significance rs886063361 GRCh37 Chromosome 9, 116150117: 116150121
43 ALAD NM_000031.5(ALAD): c.*459_*463delGTTGA deletion Uncertain significance rs886063361 GRCh38 Chromosome 9, 113387837: 113387841
44 ALAD NM_000031.5(ALAD): c.*438G> C single nucleotide variant Uncertain significance rs886063362 GRCh37 Chromosome 9, 116150142: 116150142
45 ALAD NM_000031.5(ALAD): c.*438G> C single nucleotide variant Uncertain significance rs886063362 GRCh38 Chromosome 9, 113387862: 113387862
46 ALAD NM_000031.5(ALAD): c.*422G> T single nucleotide variant Uncertain significance rs41276805 GRCh37 Chromosome 9, 116150158: 116150158
47 ALAD NM_000031.5(ALAD): c.*422G> T single nucleotide variant Uncertain significance rs41276805 GRCh38 Chromosome 9, 113387878: 113387878
48 ALAD NM_000031.5(ALAD): c.*127C> T single nucleotide variant Uncertain significance rs561104906 GRCh37 Chromosome 9, 116150453: 116150453
49 ALAD NM_000031.5(ALAD): c.*127C> T single nucleotide variant Uncertain significance rs561104906 GRCh38 Chromosome 9, 113388173: 113388173
50 ALAD NM_000031.5(ALAD): c.940A> G (p.Ile314Val) single nucleotide variant Uncertain significance rs557510313 GRCh38 Chromosome 9, 113388353: 113388353
Sources

Expression for Porphyria, Acute Hepatic

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Search GEO for disease gene expression data 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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