MCID: PRP083
MIFTS: 60

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 53 72 13 41
Acute Intermittent Porphyria 12 72 23 49 55 71 28 14 69
Porphobilinogen Deaminase Deficiency 53 23 49 71
Pbgd Deficiency 53 23 49 71
Uroporphyrinogen Synthase Deficiency 53 49 71
Porphyria, Swedish Type 53 49 71
Ups Deficiency 53 49 71
Aip 53 49 71
Porphyria, Acute Intermittent, Nonerythroid Variant 53 28
Hydroxymethylbilane Synthase Deficiency 49 69
Aip - Acute Intermittent Porphyria 12
Porphyria Intermittent Acute 12
Hydroxymethylbilane Synthase 13
Porphyria Acute Intermittent 51
Pyrroloporphyria 12
Hmbs Deficiency 49

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
porphyria, acute intermittent:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance The penetrance for clinical manifestations of an hmbs pathogenic variant is not accurately known...

Classifications:



Summaries for Porphyria, Acute Intermittent

OMIM : 53 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 arthralgia, constipation and myalgia. 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 and skin.

UniProtKB/Swiss-Prot : 71 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 : 49 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.  Last updated: 11/11/2015

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 42)
# Related Disease Score Top Affiliating Genes
1 porphyria 28.9 ALAD ALAS1 CPOX FECH HMBS PPOX
2 acute porphyria 28.4 ALAD ALAS1 CPOX FECH HMBS PPOX
3 aip-related familial isolated pituitary adenomas 12.1
4 acromegaly 11.9
5 pituitary adenoma 1, multiple types 11.8
6 acute interstitial pneumonia 11.8
7 pituitary adenoma, prolactin-secreting 11.8
8 autoimmune pancreatitis 11.8
9 adenoma 11.6
10 pituitary adenoma 11.6
11 familial isolated pituitary adenoma 11.4
12 gigantism 11.4
13 pituitary tumors 11.4
14 pituitary apoplexy 11.3
15 acroleukopathy, symmetric 11.3
16 hepatitis b 11.1
17 growth hormone secreting pituitary adenoma 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 autoimmune pancreatitis type 2 10.9
28 autoimmune pancreatitis type 1 10.9
29 acth-secreting pituitary adenoma 10.9
30 silent pituitary adenoma 10.8
31 null pituitary adenoma 10.8
32 malaria 10.0
33 heart and brain malformation syndrome 9.8
34 neuropathy 9.8
35 retinoblastoma 9.3
36 cutaneous porphyria 8.9 FECH UROD UROS
37 anemia, sideroblastic, 1 8.9 ALAD ALAS1 FECH UROS
38 protoporphyria, erythropoietic 8.4 ALAD CPOX FECH HMBS PPOX UROS
39 porphyria, congenital erythropoietic 8.2 ALAD CPOX FECH HMBS UROD UROS
40 porphyria cutanea tarda 8.0 ALAD CPOX FECH HMBS PPOX UROD
41 porphyria variegata 8.0 ALAD CPOX FECH HMBS PPOX UROD
42 coproporphyria, hereditary 7.7 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:

53
AbdomenGastrointestinal:
constipation
abdominal pain
nausea
vomiting
diarrhea
more
GenitourinaryBladder:
dysuria
urinary retention
urinary incontinence

CardiovascularVascular:
hypertension

CardiovascularHeart:
tachycardia

Neoplasia:
increased incidence of hepatocellular carcinoma

NeurologicCentralNervousSystem:
seizures
depression
anxiety
psychotic episodes
acute episodes of neuropathic symptoms
more
NeurologicPeripheralNervousSystem:
weakness
paralysis
acute episodes of neuropathic symptoms
motor, sensory, or autonomic neuropathy

RespiratoryLung:
respiratory paralysis

EndocrineFeatures:
syndrome of inappropriate antidiuretic hormone (siadh)

LaboratoryAbnormalities:
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:

55 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002829
2 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
3 myalgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003326
4 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
5 abdominal pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002027
6 nausea and vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002017
7 muscle weakness 55 31 Very frequent (99-80%) HP:0001324
8 lethargy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001254
9 paraparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002385
10 hypertension 55 31 Frequent (79-30%) HP:0000822
11 hyperhidrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000975
12 hallucinations 55 31 occasional (7.5%) Occasional (29-5%) HP:0000738
13 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
14 cranial nerve paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0006824
15 arrhythmia 55 31 frequent (33%) Frequent (79-30%) HP:0011675
16 weight loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0001824
17 anxiety 55 31 hallmark (90%) Very frequent (99-80%) HP:0000739
18 anorexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002039
19 paresthesia 55 31 frequent (33%) Frequent (79-30%) HP:0003401
20 hyperlipidemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003077
21 hypertensive crisis 55 31 frequent (33%) Frequent (79-30%) HP:0100735
22 hyponatremia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002902
23 insomnia 55 31 hallmark (90%) Very frequent (99-80%) HP:0100785
24 diaphragmatic paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0006597
25 abnormal urinary color 55 31 hallmark (90%) Very frequent (99-80%) HP:0012086
26 urinary retention 55 31 hallmark (90%) Very frequent (99-80%) HP:0000016
27 hepatocellular carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001402
28 nausea 31 HP:0002018
29 vomiting 31 HP:0002013
30 diarrhea 31 HP:0002014
31 dysuria 31 HP:0100518
32 depression 55 Very frequent (99-80%)
33 behavioral abnormality 55 Very frequent (99-80%)
34 psychotic episodes 31 HP:0000725
35 respiratory paralysis 31 HP:0002203
36 tachycardia 31 HP:0001649
37 urinary incontinence 31 HP:0000020
38 acute episodes of neuropathic symptoms 31 HP:0003489
39 paralytic ileus 31 HP:0002590
40 elevated urinary delta-aminolevulinic acid 31 HP:0003163
41 depressivity 31 hallmark (90%) HP:0000716

UMLS symptoms related to Porphyria, Acute Intermittent:


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

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 7440-31-5
2 Tin mesoporphyrin Phase 1, Phase 2
3
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
4
Chlorpromazine Approved, Investigational, Vet_approved Phase 1 50-53-3 2726
5 Central Nervous System Depressants Phase 1
6 Gastrointestinal Agents Phase 1
7 Neurotransmitter Agents Phase 1
8 Tranquilizing Agents Phase 1
9 Dopamine Agents Phase 1
10 Dopamine Antagonists Phase 1
11 Peripheral Nervous System Agents Phase 1
12 Antiemetics Phase 1
13 Liver Extracts Phase 1
14 Psychotropic Drugs Phase 1
15 Antipsychotic Agents Phase 1
16 Autonomic Agents Phase 1
17
Aminolevulinic acid Approved 106-60-5 137
18
Iron Approved 7439-89-6 23925
19 Hormone Antagonists
20 Hormones
21 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:

(show all 20)

# 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) Recruiting NCT03338816 Phase 3 Givosiran;Placebo
2 Heme Arginate in Cardiac Surgery Patients Unknown status NCT02142699 Phase 2 Heme arginate
3 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
4 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2 recombinant human porphobilinogen deaminase (Porphozym)
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 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
15 Study of Nutritional Factors in Porphyria Completed NCT00004788
16 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 luteinizing hormone-releasing factor
17 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
18 Longitudinal Study of the Porphyrias Recruiting NCT01561157
19 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin
20 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 69 / NDF-RT 47 :


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 28 HMBS
2 Porphyria, Acute Intermittent, Nonerythroid Variant 28

Anatomical Context for Porphyria, Acute Intermittent

MalaCards organs/tissues related to Porphyria, Acute Intermittent:

38
Liver, Skin

Publications for Porphyria, Acute Intermittent

Articles related to Porphyria, Acute Intermittent:

(show top 50) (show all 596)
# Title Authors Year
1
Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm. ( 29416446 )
2018
2
An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria. ( 28990424 )
2018
3
Acute intermittent porphyria: general aspects with focus on pain. ( 29383964 )
2018
4
From a dominant to an oligogenic model of inheritance with environmental modifiers in Acute Intermittent Porphyria. ( 29360981 )
2018
5
Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria. ( 29317194 )
2018
6
Treatment of acute intermittent porphyria during pregnancy and posterior reversible encephalopathy syndrome after delivery: A case report. ( 29285091 )
2017
7
Effects of hemin and hemodialysis in a patient with acute intermittent porphyria and renal failure. ( 29296735 )
2017
8
Clinical, Biochemical Characteristics and Hospital Outcome of Acute Intermittent Porphyria Patients: A Descriptive Study from North India. ( 28904459 )
2017
9
Clinical characteristic of psychiatric symptoms in Acute Intermittent Porphyria (AIP): A report of a pair of identical twins. ( 28704787 )
2017
10
Diagnosis and Treatment of Acute Intermittent Porphyria. ( 29338831 )
2017
11
Effect of Menstrual Cycle on Acute Intermittent Porphyria. ( 29094055 )
2017
12
Perioperative Challenges in Liver Transplantation for a Patient With Acute Intermittent Porphyria. ( 29306617 )
2017
13
Acute pancreatitis due to anA attack of acute intermittent porphyria. ( 28984284 )
2017
14
Acute intermittent porphyria: a test of clinical acumen. ( 28638573 )
2017
15
Acute intermittent porphyria after right hemi-colectomy. ( 28988019 )
2017
16
Acute intermittent porphyria presenting as posterior reversible encephalopathy syndrome with hyperperfusion in bilateral occipital lobes: A case report. ( 28477706 )
2017
17
Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria. ( 28348263 )
2017
18
Comprehensive analysis of the tryptophan metabolome in urine of patients with acute intermittent porphyria. ( 28666226 )
2017
19
Acute intermittent porphyria-related leukoencephalopathy. ( 27558376 )
2016
20
Acute intermittent porphyria: A critical diagnosis for favorable outcome. ( 27555700 )
2016
21
Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants. ( 27849156 )
2016
22
Takotsubo syndrome triggered by acute intermittent porphyria attack: An unusual stressor for catecholamine-induced cardiomyopathy. ( 26788817 )
2016
23
Reversible MRI findings in a case of acute intermittent porphyria with a novel mutation in the porphobilinogen deaminase gene. ( 28011390 )
2016
24
Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients. ( 27788171 )
2016
25
A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report. ( 27891417 )
2016
26
Acute Intermittent Porphyria: A Diagnostic Challenge. ( 27617074 )
2016
27
Acute intermittent porphyria exacerbation following inA vitro fertilization treatment. ( 27125415 )
2016
28
Phase I Open Label Liver-Directed Gene Therapy Clinical Trial for Acute Intermittent Porphyria. ( 27212246 )
2016
29
Acute intermittent porphyria precipitated by atazanavir/ritonavir. ( 26872826 )
2016
30
Emerging therapies for acute intermittent porphyria. ( 27804912 )
2016
31
A Comprehensive Rehabilitation Program and Follow-up Assessment for Acute Intermittent Porphyria. ( 27584135 )
2016
32
Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome and lateralized periodic discharges plus fast activity on EEG. ( 27660746 )
2016
33
Systemic inflammation in acute intermittent porphyria: a case-control study. ( 27859020 )
2016
34
Acute Intermittent Porphyria in children: A case report and review of the literature. ( 27769855 )
2016
35
Anesthetic implication of tricuspid valve replacement in a patient with acute intermittent porphyria. ( 27052088 )
2016
36
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. ( 27539938 )
2016
37
Challenges in the successful management of a case of acute intermittent porphyria in India. ( 26472549 )
2015
38
A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. ( 25870942 )
2015
39
Guillain BarrAc Syndrome, Systemic Lupus Erythematosus and Acute Intermittent Porphyria - A Deadly Trio. ( 27608785 )
2015
40
Acute Intermittent Porphyria Symptoms During the Menstrual Cycle. ( 25871503 )
2015
41
A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family. ( 26228342 )
2015
42
Hydroxymethylbilane synthase gene mutations and polymorphisms in brazilian families with acute intermittent porphyria. ( 25703257 )
2015
43
Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series. ( 26093628 )
2015
44
Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria. ( 25923088 )
2015
45
Acute Intermittent Porphyria: A Diagnostic Challenge for Endocrinologist. ( 26168842 )
2015
46
Novel A219P Mutation of Hydroxymethylbilane Synthase Identified in a Chinese Woman with Acute Intermittent Porphyria and Syndrome of Inappropriate Antidiuretic Hormone. ( 25787008 )
2015
47
An update of clinical management of acute intermittent porphyria. ( 26366103 )
2015
48
Anthropometric and Quality-of-Life Parameters in Acute Intermittent Porphyria Patients. ( 26222840 )
2015
49
Vitamin D-binding protein as a biomarker of active disease in acute intermittent porphyria. ( 25979770 )
2015
50
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver. ( 26062020 )
2015

Variations for Porphyria, Acute Intermittent

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

71 (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 all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 HMBS NM_000190.3(HMBS): c.583C> T (p.Arg195Cys) single nucleotide variant Likely pathogenic rs34413634 GRCh37 Chromosome 11, 118962207: 118962207
2 HMBS HMBS, IVS1DS, G-A, +1 single nucleotide variant Pathogenic
3 HMBS HMBS, EX12DEL deletion Pathogenic
4 HMBS NM_000190.3(HMBS): c.77G> A (p.Arg26His) single nucleotide variant Pathogenic rs118204103 GRCh37 Chromosome 11, 118959008: 118959008
5 HMBS HMBS, IVS1DS, G-T, +1 single nucleotide variant Pathogenic
6 HMBS NM_000190.3(HMBS): c.346C> T (p.Arg116Trp) single nucleotide variant Pathogenic rs118204094 GRCh37 Chromosome 11, 118960701: 118960701
7 HMBS NM_000190.3(HMBS): c.518G> A (p.Arg173Gln) single nucleotide variant Pathogenic rs118204096 GRCh37 Chromosome 11, 118962142: 118962142
8 HMBS NM_000190.3(HMBS): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs118204097 GRCh37 Chromosome 11, 118960940: 118960940
9 HMBS NM_000190.3(HMBS): c.446G> A (p.Arg149Gln) single nucleotide variant Pathogenic rs118204098 GRCh37 Chromosome 11, 118960923: 118960923
10 HMBS NM_000190.3(HMBS): c.734T> G (p.Leu245Arg) single nucleotide variant Pathogenic rs118204099 GRCh37 Chromosome 11, 118963196: 118963196
11 HMBS HMBS, 1-BP DEL, 900T deletion Pathogenic
12 HMBS HMBS, 9-BP DEL, EX10 deletion Pathogenic
13 HMBS NM_000190.3(HMBS): c.593G> A (p.Trp198Ter) single nucleotide variant Pathogenic rs118204100 GRCh37 Chromosome 11, 118962217: 118962217
14 HMBS NM_000190.3(HMBS): c.91G> A (p.Ala31Thr) single nucleotide variant Pathogenic rs118204104 GRCh37 Chromosome 11, 118959348: 118959348
15 HMBS NM_000190.3(HMBS): c.100C> A (p.Gln34Lys) single nucleotide variant Pathogenic rs118204105 GRCh37 Chromosome 11, 118959357: 118959357
16 HMBS NM_000190.3(HMBS): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs118204101 GRCh37 Chromosome 11, 118962123: 118962123
17 HMBS NM_000190.3(HMBS): c.500G> T (p.Arg167Leu) single nucleotide variant Pathogenic rs118204095 GRCh37 Chromosome 11, 118962124: 118962124
18 HMBS NM_000190.3(HMBS): c.163G> T (p.Ala55Ser) single nucleotide variant Pathogenic rs118204106 GRCh37 Chromosome 11, 118959794: 118959794
19 HMBS HMBS, 1-BP DEL, 174C deletion Pathogenic
20 HMBS HMBS, 1-BP INS, 182G insertion Pathogenic
21 HMBS HMBS, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
22 HMBS NM_000190.3(HMBS): c.601C> T (p.Arg201Trp) single nucleotide variant Pathogenic rs118204109 GRCh37 Chromosome 11, 118962225: 118962225
23 HMBS HMBS, 2-BP DEL, 218AG deletion Pathogenic
24 HMBS NM_000190.3(HMBS): c.331G> A (p.Gly111Arg) single nucleotide variant Pathogenic rs118204107 GRCh37 Chromosome 11, 118960457: 118960457
25 HMBS HMBS, IVS9AS, G-A, -1 single nucleotide variant Pathogenic
26 HMBS NM_000190.3(HMBS): c.530T> G (p.Leu177Arg) single nucleotide variant Pathogenic rs118204108 GRCh37 Chromosome 11, 118962154: 118962154
27 HMBS NM_000190.3(HMBS): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs118204110 GRCh37 Chromosome 11, 118963129: 118963129
28 HMBS HMBS, 2-BP DEL, 730CT deletion Pathogenic
29 HMBS NM_000190.3(HMBS): c.739T> C (p.Cys247Arg) single nucleotide variant Pathogenic rs118204111 GRCh37 Chromosome 11, 118963201: 118963201
30 HMBS HMBS, 8-BP INS insertion Pathogenic
31 HMBS NM_000190.3(HMBS): c.748G> A (p.Glu250Lys) single nucleotide variant Pathogenic rs118204112 GRCh37 Chromosome 11, 118963210: 118963210
32 HMBS NM_000190.3(HMBS): c.754G> A (p.Ala252Thr) single nucleotide variant Pathogenic rs118204113 GRCh37 Chromosome 11, 118963216: 118963216
33 HMBS NM_000190.3(HMBS): c.755C> T (p.Ala252Val) single nucleotide variant Pathogenic rs118204114 GRCh37 Chromosome 11, 118963217: 118963217
34 HMBS NM_000190.3(HMBS): c.766C> A (p.His256Asn) single nucleotide variant Pathogenic rs118204115 GRCh37 Chromosome 11, 118963228: 118963228
35 HMBS HMBS, IVS12DS, G-C, +1 single nucleotide variant Pathogenic
36 HMBS HMBS, IVS14DS, G-A, +1 single nucleotide variant Pathogenic
37 HMBS HMBS, IVS6DS, G-C, +1 single nucleotide variant Pathogenic
38 HMBS NM_000190.3(HMBS): c.647G> A (p.Gly216Asp) single nucleotide variant Pathogenic rs118204116 GRCh37 Chromosome 11, 118962869: 118962869
39 HMBS HMBS, 2-BP DEL, 847TG deletion Pathogenic
40 HMBS HMBS, ALU INS insertion Pathogenic
41 HMBS HMBS, 1-BP DEL, -154G deletion Pathogenic
42 HMBS HMBS, 1-BP DEL, 41A deletion Pathogenic
43 HMBS NM_000190.3(HMBS): c.849G> A (p.Trp283Ter) single nucleotide variant Pathogenic rs118204117 GRCh37 Chromosome 11, 118963668: 118963668
44 HMBS NM_000190.3(HMBS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs118204118 GRCh37 Chromosome 11, 118955744: 118955744
45 HMBS NM_000190.3(HMBS): c.242T> C (p.Leu81Pro) single nucleotide variant Pathogenic rs118204119 GRCh37 Chromosome 11, 118959958: 118959958
46 HMBS NM_000190.3(HMBS): c.445C> T (p.Arg149Ter) single nucleotide variant Pathogenic rs118204120 GRCh37 Chromosome 11, 118960922: 118960922

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 iron ion GO:0010039 9.52 ALAD CPOX
9 response to metal ion GO:0010038 9.51 ALAD FECH
10 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
11 porphyrin-containing compound biosynthetic process GO:0006779 9.5 ALAD CPOX FECH 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 protoporphyrinogen IX biosynthetic process GO:0006782 9.17 ALAD ALAS1 CPOX 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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