MCID: PRP083
MIFTS: 61

Porphyria, Acute Intermittent

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Porphyria, Acute Intermittent

MalaCards integrated aliases for Porphyria, Acute Intermittent:

Name: Porphyria, Acute Intermittent 57 76 13 44
Acute Intermittent Porphyria 12 76 24 53 59 75 29 6 15 40 73
Porphobilinogen Deaminase Deficiency 57 24 53 75
Pbgd Deficiency 57 24 53 75
Porphyria, Acute Intermittent, Nonerythroid Variant 57 29 6
Uroporphyrinogen Synthase Deficiency 57 53 75
Porphyria, Swedish Type 57 53 75
Ups Deficiency 57 53 75
Aip 57 53 75
Hydroxymethylbilane Synthase Deficiency 53 73
Aip - Acute Intermittent Porphyria 12
Porphyria Intermittent Acute 12
Hydroxymethylbilane Synthase 13
Porphyria Acute Intermittent 55
Pyrroloporphyria 12
Hmbs Deficiency 53

Characteristics:

Orphanet epidemiological data:

59
acute intermittent porphyria
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe),<1/1000000 (France),1-9/1000000 (France),<1/1000000 (Italy),1-9/1000000 (Italy),<1/1000000 (Finland),1-9/1000000 (Finland),<1/1000000 (Netherlands),1-9/1000000 (Netherlands),<1/1000000 (Norway),1-9/1000000 (Norway),<1/1000000 (Poland),1-9/1000000 (Poland),<1/1000000 (Spain),1-9/1000000 (Spain),<1/1000000 (Sweden),1-5/10000 (Sweden),<1/1000000 (Switzerland),1-9/1000000 (Switzerland),<1/1000000 (United Kingdom),1-9/1000000 (United Kingdom); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
acute attacks rarely occur before puberty
attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes
attacks more common in women
ninety percent of patients with pbg deaminase deficiency are clinically unaffected


HPO:

32
porphyria, acute intermittent:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance The penetrance for clinical manifestations of an hmbs pathogenic variant is not accurately known...

Classifications:



Summaries for Porphyria, Acute Intermittent

OMIM : 57 Porphyrias are inherited defects in the biosynthesis of heme. Acute intermittent porphyria, the most common form of porphyria, is an autosomal dominant disorder characterized by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances. In the classic form of AIP, both the ubiquitous 'nonerythroid' housekeeping HMBS isoform and the 'erythroid' HMBS isoform are deficient. However, about 5% of families have the 'nonerythroid variant' of AIP, with a defect only in the ubiquitous nonerythroid HMBS isoform and normal levels of the erythroid HMBS isoform. Clinical characteristics in the 2 forms are identical; diagnostic methods based on the level of enzyme in erythrocytes is ineffective (Puy et al., 1998; Petrides, 1998; Whatley et al., 2000). There are several other forms of porphyria: see porphyria cutanea tarda (176100), variegata porphyria (176200), coproporphyria (121300), acute hepatic porphyria (125270), and congenital erythropoietic porphyria (263700). (176000)

MalaCards based summary : Porphyria, Acute Intermittent, also known as acute intermittent porphyria, is related to porphyria and acute porphyria, and has symptoms including abdominal pain, constipation and diarrhea. An important gene associated with Porphyria, Acute Intermittent is HMBS (Hydroxymethylbilane Synthase), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll metabolism. The drugs Tin and Tin mesoporphyrin have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and kidney, and related phenotypes are depressivity and hypertension

UniProtKB/Swiss-Prot : 75 Acute intermittent 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. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.

NIH Rare Diseases : 53 Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones, drugs, and dietary changes may trigger symptoms. Although most individuals with AIP never develop symptoms, symptomatic individuals typically present with abdominal pain with nausea. Treatment is dependent on the symptoms. 

Wikipedia : 76 Acute intermittent porphyria (AIP) is a genetic metabolic disorder affecting the production of heme, the... more...

GeneReviews: NBK1193

Related Diseases for Porphyria, Acute Intermittent

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 porphyria 26.8 ALAD ALAS1 CPOX FECH HMBS PPOX
2 acute porphyria 26.3 ALAD ALAS1 CPOX FECH HMBS PPOX
3 aip-related familial isolated pituitary adenomas 12.1
4 pituitary adenoma 1, multiple types 11.9
5 acromegaly 11.8
6 acute interstitial pneumonia 11.8
7 autoimmune pancreatitis 11.8
8 pituitary adenoma, prolactin-secreting 11.6
9 adenoma 11.6
10 pituitary adenoma 11.6
11 familial isolated pituitary adenoma 11.5
12 growth hormone secreting pituitary adenoma 11.5
13 acroleukopathy, symmetric 11.4
14 gigantism 11.4
15 pituitary tumors 11.4
16 pituitary apoplexy 11.3
17 hepatitis b 11.1
18 chester porphyria 11.0
19 carney complex variant 10.9
20 multiple endocrine neoplasia, type iv 10.9
21 cell type benign neoplasm 10.9
22 organ system benign neoplasm 10.9
23 endocrine organ benign neoplasm 10.9
24 hyperpituitarism 10.9
25 functioning pituitary adenoma 10.9
26 hormone producing pituitary cancer 10.9
27 cancer-associated retinopathy 10.9
28 autoimmune pancreatitis type 2 10.9
29 autoimmune pancreatitis type 1 10.9
30 acth-secreting pituitary adenoma 10.9
31 silent pituitary adenoma 10.8
32 null pituitary adenoma 10.8
33 malaria 10.0
34 cutaneous porphyria 8.2 FECH UROD UROS
35 anemia, sideroblastic, 1 8.2 ALAD ALAS1 FECH UROS
36 protoporphyria, erythropoietic 7.4 ALAD CPOX FECH HMBS PPOX UROS
37 porphyria, congenital erythropoietic 7.2 ALAD CPOX FECH HMBS UROD UROS
38 porphyria variegata 6.8 ALAD CPOX FECH HMBS PPOX UROD
39 coproporphyria, hereditary 6.4 ALAD ALAS1 CPOX FECH HMBS PPOX
40 porphyria cutanea tarda 6.3 ALAD ALAS1 CPOX FECH HMBS PPOX

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



Diseases related to Porphyria, Acute Intermittent

Symptoms & Phenotypes for Porphyria, Acute Intermittent

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Abdomen Gastrointestinal:
constipation
vomiting
abdominal pain
diarrhea
nausea
more
Respiratory Lung:
respiratory paralysis

Cardiovascular Heart:
tachycardia

Neoplasia:
increased incidence of hepatocellular carcinoma

Neurologic Central Nervous System:
seizures
anxiety
psychotic episodes
acute episodes of neuropathic symptoms
depression
more
Neurologic Peripheral Nervous System:
paralysis
acute episodes of neuropathic symptoms
weakness
motor, sensory, or autonomic neuropathy

Genitourinary Bladder:
urinary incontinence
dysuria
urinary retention

Endocrine Features:
syndrome of inappropriate antidiuretic hormone (siadh)

Laboratory Abnormalities:
erythrocyte porphobilinogen (pbg) deaminase deficiency (exception: type ii aip)
increased urinary delta-aminolevulinic acid (ala) and porphobilinogen (pbg) during acute attacks
urine occasionally port-wine in color secondary to porphobilinogen


Clinical features from OMIM:

176000

Human phenotypes related to Porphyria, Acute Intermittent:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000716
2 hypertension 59 32 Frequent (79-30%) HP:0000822
3 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
4 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
5 muscle weakness 59 32 Very frequent (99-80%) HP:0001324
6 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
7 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
8 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
9 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
10 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
11 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
12 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
13 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
14 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
15 anxiety 59 32 hallmark (90%) Very frequent (99-80%) HP:0000739
16 anorexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002039
17 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
18 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
19 hyperlipidemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003077
20 hypertensive crisis 59 32 frequent (33%) Frequent (79-30%) HP:0100735
21 hyponatremia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002902
22 insomnia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100785
23 lethargy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001254
24 diaphragmatic paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006597
25 abnormal urinary color 59 32 hallmark (90%) Very frequent (99-80%) HP:0012086
26 urinary retention 59 32 hallmark (90%) Very frequent (99-80%) HP:0000016
27 paraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002385
28 hepatocellular carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001402
29 behavioral abnormality 59 Very frequent (99-80%)
30 vomiting 32 HP:0002013
31 psychotic episodes 32 HP:0000725
32 diarrhea 32 HP:0002014
33 respiratory paralysis 32 HP:0002203
34 urinary incontinence 32 HP:0000020
35 dysuria 32 HP:0100518
36 tachycardia 32 HP:0001649
37 nausea 32 HP:0002018
38 acute episodes of neuropathic symptoms 32 HP:0003489
39 paralytic ileus 32 HP:0002590
40 elevated urinary delta-aminolevulinic acid 32 HP:0003163

UMLS symptoms related to Porphyria, Acute Intermittent:


abdominal pain, constipation, diarrhea, dysuria, nausea, seizures, vomiting, weakness

Drugs & Therapeutics for Porphyria, Acute Intermittent

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tin Phase 1, Phase 2,Phase 2 7440-31-5
2 Tin mesoporphyrin Phase 1, Phase 2,Phase 2
3
Chlorpromazine Approved, Investigational, Vet_approved Phase 1 50-53-3 2726
4
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
5 Liver Extracts Phase 1
6 Antiemetics Phase 1
7 Antipsychotic Agents Phase 1
8 Autonomic Agents Phase 1
9 Central Nervous System Depressants Phase 1
10 Dopamine Agents Phase 1
11 Dopamine Antagonists Phase 1
12 Gastrointestinal Agents Phase 1
13 Neurotransmitter Agents Phase 1
14 Peripheral Nervous System Agents Phase 1
15 Psychotropic Drugs Phase 1
16 Tranquilizing Agents Phase 1
17
Aminolevulinic acid Approved 106-60-5 137
18
Iron Approved 7439-89-6 23925
19 Hormone Antagonists Not Applicable
20 Hormones Not Applicable
21 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2, Phase 3 recombinant human porphobilinogen deaminase (Porphozym)
2 ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP) Recruiting NCT03338816 Phase 3 Givosiran;Placebo
3 Heme Arginate in Cardiac Surgery Patients Unknown status NCT02142699 Phase 2 Heme arginate
4 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
5 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
6 Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria Recruiting NCT02180412 Phase 2
7 Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
8 A Study to Evaluate Long-term Safety and Clinical Activity of Givosiran (ALN-AS1) in Patient With Acute Intermittent Porphyria (AIP) Active, not recruiting NCT02949830 Phase 1, Phase 2 givosiran (ALN-AS1)
9 Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
10 A Phase 1 Study of Givosiran (ALN-AS1) in Patients With Acute Intermittent Porphyria (AIP) Completed NCT02452372 Phase 1 givosiran (ALN-AS1);Sterile Normal Saline (0.9% NaCl)
11 Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of Porphyria Completed NCT00004398 Phase 1 heme arginate;tin mesoporphyrin
12 Hemin in Healthy Subjects Completed NCT00882804 Phase 1 Hemin infusion;placebo infusion
13 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1 Chlorpromazine Hydrochloride
14 A Study to Investigate the Interaction Between Givosiran and a 5-probe Drug Cocktail in Patients With Acute Intermittent Porphyria (AIP) Recruiting NCT03505853 Phase 1 Givosiran;5-probe cocktail
15 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
16 Study of Nutritional Factors in Porphyria Completed NCT00004788
17 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 Not Applicable luteinizing hormone-releasing factor
18 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
19 Longitudinal Study of the Porphyrias Recruiting NCT01561157
20 INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP Recruiting NCT03547297
21 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin
22 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Not yet recruiting NCT01617642

Search NIH Clinical Center for Porphyria, Acute Intermittent

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: porphyria, acute intermittent

Genetic Tests for Porphyria, Acute Intermittent

Genetic tests related to Porphyria, Acute Intermittent:

# Genetic test Affiliating Genes
1 Acute Intermittent Porphyria 29 HMBS
2 Porphyria, Acute Intermittent, Nonerythroid Variant 29

Anatomical Context for Porphyria, Acute Intermittent

MalaCards organs/tissues related to Porphyria, Acute Intermittent:

41
Liver, Skin, Kidney, Brain, Testes, Whole Blood, Occipital Lobe

Publications for Porphyria, Acute Intermittent

Articles related to Porphyria, Acute Intermittent:

(show top 50) (show all 619)
# Title Authors Year
1
An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria. ( 28990424 )
2018
2
Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria. ( 29515921 )
2018
3
Medical and financial burden of acute intermittent porphyria. ( 29675607 )
2018
4
Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease with Intermittent and Chronic Manifestations. ( 29915990 )
2018
5
Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm. ( 29416446 )
2018
6
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. ( 29594648 )
2018
7
From a dominant to an oligogenic model of inheritance with environmental modifiers in Acute Intermittent Porphyria. ( 29360981 )
2018
8
Acute intermittent porphyria: general aspects with focus on pain. ( 29383964 )
2018
9
Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria. ( 29317194 )
2018
10
A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy. ( 29915773 )
2018
11
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in <i>HMBS</i> Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia. ( 29731767 )
2018
12
Acute Intermittent Porphyria in the North of China: The Acute Attack Effect on Quality of Life and Psychological Condition. ( 29862261 )
2018
13
Acute intermittent porphyria: a test of clinical acumen. ( 28638573 )
2017
14
Acute intermittent porphyria after right hemi-colectomy. ( 28988019 )
2017
15
Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria. ( 28348263 )
2017
16
Effect of Menstrual Cycle on Acute Intermittent Porphyria. ( 29094055 )
2017
17
Diagnosis and Treatment of Acute Intermittent Porphyria. ( 29338831 )
2017
18
Treatment of acute intermittent porphyria during pregnancy and posterior reversible encephalopathy syndrome after delivery: A case report. ( 29285091 )
2017
19
Effects of hemin and hemodialysis in a patient with acute intermittent porphyria and renal failure. ( 29296735 )
2017
20
Perioperative Challenges in Liver Transplantation for a Patient With Acute Intermittent Porphyria. ( 29306617 )
2017
21
Acute intermittent porphyria presenting as posterior reversible encephalopathy syndrome with hyperperfusion in bilateral occipital lobes: A case report. ( 28477706 )
2017
22
Comprehensive analysis of the tryptophan metabolome in urine of patients with acute intermittent porphyria. ( 28666226 )
2017
23
Clinical characteristic of psychiatric symptoms in Acute Intermittent Porphyria (AIP): A report of a pair of identical twins. ( 28704787 )
2017
24
Clinical, Biochemical Characteristics and Hospital Outcome of Acute Intermittent Porphyria Patients: A Descriptive Study from North India. ( 28904459 )
2017
25
Acute pancreatitis due to anA attack of acute intermittent porphyria. ( 28984284 )
2017
26
Acute intermittent porphyria-related leukoencephalopathy. ( 27558376 )
2016
27
Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants. ( 27849156 )
2016
28
Acute intermittent porphyria precipitated by atazanavir/ritonavir. ( 26872826 )
2016
29
A Comprehensive Rehabilitation Program and Follow-up Assessment for Acute Intermittent Porphyria. ( 27584135 )
2016
30
Erratum: Acute intermittent porphyria: A critical diagnosis for favourable outcome. ( 27688637 )
2016
31
Reversible MRI findings in a case of acute intermittent porphyria with a novel mutation in the porphobilinogen deaminase gene. ( 28011390 )
2016
32
Acute intermittent porphyria: A critical diagnosis for favorable outcome. ( 27555700 )
2016
33
Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome and lateralized periodic discharges plus fast activity on EEG. ( 27660746 )
2016
34
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. ( 27539938 )
2016
35
Takotsubo syndrome triggered by acute intermittent porphyria attack: An unusual stressor for catecholamine-induced cardiomyopathy. ( 26788817 )
2016
36
Acute intermittent porphyria exacerbation following inA vitro fertilization treatment. ( 27125415 )
2016
37
A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report. ( 27891417 )
2016
38
Femoral and sciatic nerve block for knee arthroscopy in a patient with acute intermittent porphyria. ( 27220836 )
2016
39
Acute Intermittent Porphyria in children: A case report and review of the literature. ( 27769855 )
2016
40
Anesthetic implication of tricuspid valve replacement in a patient with acute intermittent porphyria. ( 27052088 )
2016
41
Acute Intermittent Porphyria: A Diagnostic Challenge. ( 27617074 )
2016
42
Phase I Open Label Liver-Directed Gene Therapy Clinical Trial for Acute Intermittent Porphyria. ( 27212246 )
2016
43
Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients. ( 27788171 )
2016
44
Emerging therapies for acute intermittent porphyria. ( 27804912 )
2016
45
Systemic inflammation in acute intermittent porphyria: a case-control study. ( 27859020 )
2016
46
Challenges in the successful management of a case of acute intermittent porphyria in India. ( 26472549 )
2015
47
Novel A219P Mutation of Hydroxymethylbilane Synthase Identified in a Chinese Woman with Acute Intermittent Porphyria and Syndrome of Inappropriate Antidiuretic Hormone. ( 25787008 )
2015
48
Guillain BarrAc Syndrome, Systemic Lupus Erythematosus and Acute Intermittent Porphyria - A Deadly Trio. ( 27608785 )
2015
49
Mass spectrometric characterisation of a condensation product between porphobilinogen and indolyl-3-acryloylglycine in urine of patients with acute intermittent porphyria. ( 26349648 )
2015
50
Posterior reversible encephalopathy syndrome as a rare presenting feature of acute intermittent porphyria. ( 26238901 )
2015

Variations for Porphyria, Acute Intermittent

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

75 (show top 50) (show all 89)
# Symbol AA change Variation ID SNP ID
1 HMBS p.Arg22Cys VAR_003638 rs189159450
2 HMBS p.Arg26His VAR_003639 rs118204103
3 HMBS p.Ala31Thr VAR_003640 rs118204104
4 HMBS p.Gln34Lys VAR_003641 rs118204105
5 HMBS p.Ala55Ser VAR_003642 rs118204106
6 HMBS p.Val93Phe VAR_003643
7 HMBS p.Lys98Arg VAR_003644
8 HMBS p.Gly111Arg VAR_003645 rs118204107
9 HMBS p.Arg116Gln VAR_003646
10 HMBS p.Arg116Trp VAR_003647 rs118204094
11 HMBS p.Pro119Leu VAR_003648
12 HMBS p.Arg149Leu VAR_003649
13 HMBS p.Arg149Gln VAR_003650 rs118204098
14 HMBS p.Arg167Gln VAR_003651 rs118204095
15 HMBS p.Arg167Trp VAR_003652 rs118204101
16 HMBS p.Arg173Gln VAR_003653 rs118204096
17 HMBS p.Arg173Trp VAR_003654 rs575222284
18 HMBS p.Leu177Arg VAR_003655 rs118204108
19 HMBS p.Arg195Cys VAR_003656 rs34413634
20 HMBS p.Arg201Trp VAR_003657 rs118204109
21 HMBS p.Val222Met VAR_003658
22 HMBS p.Glu223Lys VAR_003659 rs118204110
23 HMBS p.Arg225Gly VAR_003660
24 HMBS p.Leu238Arg VAR_003661
25 HMBS p.Leu245Arg VAR_003662 rs118204099
26 HMBS p.Cys247Phe VAR_003663
27 HMBS p.Cys247Arg VAR_003664 rs118204111
28 HMBS p.Glu250Ala VAR_003665
29 HMBS p.Glu250Lys VAR_003666 rs118204112
30 HMBS p.Ala252Thr VAR_003667 rs118204113
31 HMBS p.Ala252Val VAR_003668 rs118204114
32 HMBS p.His256Asn VAR_003669 rs118204115
33 HMBS p.Thr269Ile VAR_003670
34 HMBS p.Gly274Arg VAR_003671
35 HMBS p.Leu278Pro VAR_003672
36 HMBS p.Gly280Arg VAR_003673
37 HMBS p.Gly24Ser VAR_011001
38 HMBS p.Arg26Cys VAR_011002 rs998842815
39 HMBS p.Ser28Asn VAR_011003
40 HMBS p.Ala31Pro VAR_011004
41 HMBS p.Gln34Pro VAR_011005
42 HMBS p.Thr35Met VAR_011006 rs974712040
43 HMBS p.Leu42Ser VAR_011007
44 HMBS p.Asp61Asn VAR_011008
45 HMBS p.Leu85Arg VAR_011009
46 HMBS p.Val90Gly VAR_011010
47 HMBS p.Val124Asp VAR_011011
48 HMBS p.Val202Leu VAR_011013 rs914335144
49 HMBS p.Glu209Lys VAR_011014 rs1007859875Acute
50 HMBS p.Gly216Asp VAR_011015 rs118204116

ClinVar genetic disease variations for Porphyria, Acute Intermittent:

6
(show top 50) (show all 137)
# Gene Variation Type Significance SNP ID Assembly Location
1 HMBS HMBS, IVS14DS, G-A, +1 single nucleotide variant Pathogenic
2 HMBS HMBS, IVS6DS, G-C, +1 single nucleotide variant Pathogenic
3 HMBS HMBS, IVS1DS, G-A, +1 single nucleotide variant Pathogenic
4 HMBS HMBS, EX12DEL deletion Pathogenic
5 HMBS NM_000190.3(HMBS): c.77G> A (p.Arg26His) single nucleotide variant Pathogenic rs118204103 GRCh37 Chromosome 11, 118959008: 118959008
6 HMBS NM_000190.3(HMBS): c.77G> A (p.Arg26His) single nucleotide variant Pathogenic rs118204103 GRCh38 Chromosome 11, 119088298: 119088298
7 HMBS HMBS, IVS1DS, G-T, +1 single nucleotide variant Pathogenic
8 HMBS NM_000190.3(HMBS): c.346C> T (p.Arg116Trp) single nucleotide variant Pathogenic rs118204094 GRCh37 Chromosome 11, 118960701: 118960701
9 HMBS NM_000190.3(HMBS): c.346C> T (p.Arg116Trp) single nucleotide variant Pathogenic rs118204094 GRCh38 Chromosome 11, 119089991: 119089991
10 HMBS NM_000190.3(HMBS): c.500G> A (p.Arg167Gln) single nucleotide variant Pathogenic rs118204095 GRCh37 Chromosome 11, 118962124: 118962124
11 HMBS NM_000190.3(HMBS): c.500G> A (p.Arg167Gln) single nucleotide variant Pathogenic rs118204095 GRCh38 Chromosome 11, 119091414: 119091414
12 HMBS NM_000190.3(HMBS): c.518G> A (p.Arg173Gln) single nucleotide variant Pathogenic rs118204096 GRCh37 Chromosome 11, 118962142: 118962142
13 HMBS NM_000190.3(HMBS): c.518G> A (p.Arg173Gln) single nucleotide variant Pathogenic rs118204096 GRCh38 Chromosome 11, 119091432: 119091432
14 HMBS NM_000190.3(HMBS): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs118204097 GRCh37 Chromosome 11, 118960940: 118960940
15 HMBS NM_000190.3(HMBS): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs118204097 GRCh38 Chromosome 11, 119090230: 119090230
16 HMBS NM_000190.3(HMBS): c.446G> A (p.Arg149Gln) single nucleotide variant Pathogenic rs118204098 GRCh37 Chromosome 11, 118960923: 118960923
17 HMBS NM_000190.3(HMBS): c.446G> A (p.Arg149Gln) single nucleotide variant Pathogenic rs118204098 GRCh38 Chromosome 11, 119090213: 119090213
18 HMBS NM_000190.3(HMBS): c.734T> G (p.Leu245Arg) single nucleotide variant Pathogenic rs118204099 GRCh37 Chromosome 11, 118963196: 118963196
19 HMBS NM_000190.3(HMBS): c.734T> G (p.Leu245Arg) single nucleotide variant Pathogenic rs118204099 GRCh38 Chromosome 11, 119092486: 119092486
20 HMBS HMBS, 1-BP DEL, 900T deletion Pathogenic
21 HMBS HMBS, 9-BP DEL, EX10 deletion Pathogenic
22 HMBS NM_000190.3(HMBS): c.593G> A (p.Trp198Ter) single nucleotide variant Pathogenic rs118204100 GRCh37 Chromosome 11, 118962217: 118962217
23 HMBS NM_000190.3(HMBS): c.593G> A (p.Trp198Ter) single nucleotide variant Pathogenic rs118204100 GRCh38 Chromosome 11, 119091507: 119091507
24 HMBS NM_000190.3(HMBS): c.91G> A (p.Ala31Thr) single nucleotide variant Pathogenic rs118204104 GRCh37 Chromosome 11, 118959348: 118959348
25 HMBS NM_000190.3(HMBS): c.91G> A (p.Ala31Thr) single nucleotide variant Pathogenic rs118204104 GRCh38 Chromosome 11, 119088638: 119088638
26 HMBS NM_000190.3(HMBS): c.100C> A (p.Gln34Lys) single nucleotide variant Pathogenic rs118204105 GRCh37 Chromosome 11, 118959357: 118959357
27 HMBS NM_000190.3(HMBS): c.100C> A (p.Gln34Lys) single nucleotide variant Pathogenic rs118204105 GRCh38 Chromosome 11, 119088647: 119088647
28 HMBS NM_000190.3(HMBS): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs118204101 GRCh37 Chromosome 11, 118962123: 118962123
29 HMBS NM_000190.3(HMBS): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs118204101 GRCh38 Chromosome 11, 119091413: 119091413
30 HMBS NM_000190.3(HMBS): c.500G> T (p.Arg167Leu) single nucleotide variant Pathogenic rs118204095 GRCh37 Chromosome 11, 118962124: 118962124
31 HMBS NM_000190.3(HMBS): c.500G> T (p.Arg167Leu) single nucleotide variant Pathogenic rs118204095 GRCh38 Chromosome 11, 119091414: 119091414
32 HMBS NM_000190.3(HMBS): c.163G> T (p.Ala55Ser) single nucleotide variant Pathogenic rs118204106 GRCh37 Chromosome 11, 118959794: 118959794
33 HMBS NM_000190.3(HMBS): c.163G> T (p.Ala55Ser) single nucleotide variant Pathogenic rs118204106 GRCh38 Chromosome 11, 119089084: 119089084
34 HMBS HMBS, 1-BP DEL, 174C deletion Pathogenic
35 HMBS HMBS, 1-BP INS, 182G insertion Pathogenic
36 HMBS HMBS, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
37 HMBS NM_000190.3(HMBS): c.601C> T (p.Arg201Trp) single nucleotide variant Pathogenic rs118204109 GRCh37 Chromosome 11, 118962225: 118962225
38 HMBS NM_000190.3(HMBS): c.601C> T (p.Arg201Trp) single nucleotide variant Pathogenic rs118204109 GRCh38 Chromosome 11, 119091515: 119091515
39 HMBS HMBS, 2-BP DEL, 218AG deletion Pathogenic
40 HMBS NM_000190.3(HMBS): c.331G> A (p.Gly111Arg) single nucleotide variant Pathogenic rs118204107 GRCh37 Chromosome 11, 118960457: 118960457
41 HMBS NM_000190.3(HMBS): c.331G> A (p.Gly111Arg) single nucleotide variant Pathogenic rs118204107 GRCh38 Chromosome 11, 119089747: 119089747
42 HMBS HMBS, IVS9AS, G-A, -1 single nucleotide variant Pathogenic
43 HMBS NM_000190.3(HMBS): c.530T> G (p.Leu177Arg) single nucleotide variant Pathogenic rs118204108 GRCh37 Chromosome 11, 118962154: 118962154
44 HMBS NM_000190.3(HMBS): c.530T> G (p.Leu177Arg) single nucleotide variant Pathogenic rs118204108 GRCh38 Chromosome 11, 119091444: 119091444
45 HMBS NM_000190.3(HMBS): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs118204110 GRCh37 Chromosome 11, 118963129: 118963129
46 HMBS NM_000190.3(HMBS): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs118204110 GRCh38 Chromosome 11, 119092419: 119092419
47 HMBS HMBS, 2-BP DEL, 730CT deletion Pathogenic
48 HMBS NM_000190.3(HMBS): c.739T> C (p.Cys247Arg) single nucleotide variant Pathogenic rs118204111 GRCh37 Chromosome 11, 118963201: 118963201
49 HMBS NM_000190.3(HMBS): c.739T> C (p.Cys247Arg) single nucleotide variant Pathogenic rs118204111 GRCh38 Chromosome 11, 119092491: 119092491
50 HMBS HMBS, 8-BP INS insertion Pathogenic

Expression for Porphyria, Acute Intermittent

Search GEO for disease gene expression data for Porphyria, Acute Intermittent.

Pathways for Porphyria, Acute Intermittent

GO Terms for Porphyria, Acute Intermittent

Cellular components related to Porphyria, Acute Intermittent according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.33 CPOX FECH PPOX
2 mitochondrion GO:0005739 9.02 ALAS1 CPOX FECH PPOX UROS
3 mitochondrial intermembrane space GO:0005758 8.96 CPOX PPOX

Biological processes related to Porphyria, Acute Intermittent according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 heme biosynthetic process GO:0006783 9.76 ALAD ALAS1 CPOX FECH HMBS PPOX
2 response to drug GO:0042493 9.71 ALAD FECH PPOX
3 response to lead ion GO:0010288 9.61 ALAD CPOX FECH
4 response to arsenic-containing substance GO:0046685 9.58 ALAD CPOX FECH
5 tetrapyrrole biosynthetic process GO:0033014 9.56 ALAD ALAS1 HMBS UROS
6 response to ethanol GO:0045471 9.55 ALAD FECH
7 response to methylmercury GO:0051597 9.54 ALAD CPOX FECH
8 response to metal ion GO:0010038 9.52 ALAD FECH
9 response to iron ion GO:0010039 9.51 ALAD CPOX
10 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
11 protoporphyrinogen IX biosynthetic process GO:0006782 9.5 ALAD ALAS1 CPOX HMBS PPOX UROD
12 response to inorganic substance GO:0010035 9.49 ALAD CPOX
13 response to insecticide GO:0017085 9.48 CPOX FECH
14 protoporphyrinogen IX metabolic process GO:0046501 9.46 FECH PPOX
15 porphyrin-containing compound biosynthetic process GO:0006779 9.17 ALAD CPOX FECH HMBS PPOX UROD

Molecular functions related to Porphyria, Acute Intermittent according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 8.92 ALAD FECH UROD UROS

Sources for Porphyria, Acute Intermittent

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