AIP
MCID: PRP083
MIFTS: 54

Porphyria, Acute Intermittent (AIP) malady

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

Aliases & Classifications for Porphyria, Acute Intermittent

Aliases & Descriptions for Porphyria, Acute Intermittent:

Name: Porphyria, Acute Intermittent 54 13 42
Acute Intermittent Porphyria 12 71 23 50 24 56 66 14 69
Porphobilinogen Deaminase Deficiency 23 50 24 66
Pbgd Deficiency 23 50 24 66
Hydroxymethylbilane Synthase Deficiency 50 24 69
Porphyria, Acute Intermittent, Nonerythroid Variant 54 29
Uroporphyrinogen Synthase Deficiency 50 66
Porphyria Intermittent Acute 12 29
Porphyria, Swedish Type 50 66
Ups Deficiency 50 66
Aip 50 66
Aip - Acute Intermittent Porphyria 12
Hydroxymethylbilane Synthase 13
Porphyria Acute Intermittent 52
Pyrroloporphyria 12
Hmbs Deficiency 50

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
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:



External Ids:

OMIM 54 176000
Disease Ontology 12 DOID:3890
MeSH 42 D017118
NCIt 47 C84536
Orphanet 56 ORPHA79276
MESH via Orphanet 43 D017118
UMLS via Orphanet 70 C0162565
ICD10 via Orphanet 34 E80.2
UMLS 69 C0162565

Summaries for Porphyria, Acute Intermittent

OMIM : 54 Porphyrias are inherited defects in the biosynthesis of heme. Acute intermittent porphyria, the most common form of... (176000) more...

MalaCards based summary : Porphyria, Acute Intermittent, also known as acute intermittent porphyria, is related to aip-related familial isolated pituitary adenomas and acromegaly, 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.

NIH Rare Diseases : 50 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

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 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 42)
id Related Disease Score Top Affiliating Genes
1 aip-related familial isolated pituitary adenomas 12.3
2 acromegaly 11.7
3 autoimmune pancreatitis 11.7
4 pituitary adenoma, prolactin-secreting 11.6
5 porphyria 11.5
6 pituitary adenoma, acth-secreting 11.4
7 pituitary adenoma 11.4
8 adenoma 11.4
9 familial isolated pituitary adenoma 11.3
10 gigantism 11.3
11 pituitary apoplexy 11.3
12 acute interstitial pneumonia 11.1
13 acute porphyria 11.1
14 hepatitis b 11.0
15 pituitary adenoma, growth hormone-secreting 11.0
16 chester porphyria 10.9
17 pituitary infarct 10.9
18 silent pituitary adenoma 10.9
19 hyperpituitarism 10.9
20 null pituitary adenoma 10.9
21 functioning pituitary adenoma 10.9
22 multiple endocrine neoplasia, type iv 10.9
23 hormone producing pituitary cancer 10.9
24 carney complex variant 10.9
25 cell type benign neoplasm 10.9
26 organ system benign neoplasm 10.9
27 endocrine organ benign neoplasm 10.9
28 gastrointestinal defects and immunodeficiency syndrome 10.8
29 autoimmune pancreatitis type 2 10.8
30 autoimmune pancreatitis type 1 10.8
31 crater-like holes of optic disc 9.6 FECH UROD UROS
32 aarskog-scott syndrome 9.4 ALAD ALAS1 FECH UROS
33 idiopathic juvenile osteoporosis 9.3
34 melioidosis 9.3
35 palmoplantar keratoderma, nagashima type 9.2 ALAD CPOX FECH HMBS PPOX UROS
36 macular degeneration, age-related, 7 9.1 ALAD CPOX FECH HMBS UROD UROS
37 peroxisome biogenesis disorder 12a 9.1 ALAD CPOX FECH HMBS PPOX UROD
38 mandibuloacral dysplasia with type b lipodystrophy 9.0 ALAD CPOX FECH HMBS PPOX UROD
39 acanthosis nigricans 9.0 ALAS1 CPOX FECH HMBS PPOX UROD
40 coronary heart disease 5 8.9 ALAD ALAS1 CPOX FECH HMBS PPOX
41 lathosterolosis 8.8 ALAD ALAS1 CPOX FECH HMBS PPOX
42 intestinal tuberculosis 8.8 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 by clinical synopsis from OMIM:

176000

Clinical features from OMIM:

176000

Human phenotypes related to Porphyria, Acute Intermittent:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Occasional (29-5%) HP:0002829
2 constipation 56 32 Frequent (79-30%) HP:0002019
3 myalgia 56 32 Very frequent (99-80%) HP:0003326
4 seizures 56 32 Very frequent (99-80%) HP:0001250
5 abdominal pain 56 32 Very frequent (99-80%) HP:0002027
6 nausea and vomiting 56 32 Very frequent (99-80%) HP:0002017
7 muscle weakness 56 32 Very frequent (99-80%) HP:0001324
8 lethargy 56 32 Occasional (29-5%) HP:0001254
9 paraparesis 56 32 Occasional (29-5%) HP:0002385
10 depression 56 32 Very frequent (99-80%) HP:0000716
11 hypertension 56 32 Frequent (79-30%) HP:0000822
12 hyperhidrosis 56 32 Frequent (79-30%) HP:0000975
13 hallucinations 56 32 Occasional (29-5%) HP:0000738
14 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
15 cranial nerve paralysis 56 32 Occasional (29-5%) HP:0006824
16 arrhythmia 56 32 Frequent (79-30%) HP:0011675
17 weight loss 56 32 Occasional (29-5%) HP:0001824
18 anxiety 56 32 Very frequent (99-80%) HP:0000739
19 anorexia 56 32 Very frequent (99-80%) HP:0002039
20 paresthesia 56 32 Frequent (79-30%) HP:0003401
21 hyperlipidemia 56 32 Occasional (29-5%) HP:0003077
22 hypertensive crisis 56 32 Frequent (79-30%) HP:0100735
23 hyponatremia 56 32 Occasional (29-5%) HP:0002902
24 insomnia 56 32 Very frequent (99-80%) HP:0100785
25 diaphragmatic paralysis 56 32 Occasional (29-5%) HP:0006597
26 abnormal urinary color 56 32 Very frequent (99-80%) HP:0012086
27 urinary retention 56 32 Very frequent (99-80%) HP:0000016
28 hepatocellular carcinoma 56 32 Occasional (29-5%) HP:0001402
29 nausea 32 HP:0002018
30 vomiting 32 HP:0002013
31 diarrhea 32 HP:0002014
32 dysuria 32 HP:0100518
33 behavioral abnormality 56 Very frequent (99-80%)
34 psychotic episodes 32 HP:0000725
35 respiratory paralysis 32 HP:0002203
36 tachycardia 32 HP:0001649
37 urinary incontinence 32 HP:0000020
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)
id 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
Chlorpromazine Approved, 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
20 Hormones
21 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:

(show all 19)
id Name Status NCT ID Phase
1 Heme Arginate in Cardiac Surgery Patients Unknown status NCT02142699 Phase 2
2 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2
3 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2
4 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2
5 Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria Recruiting NCT02180412 Phase 2
6 Panhematin for Prevention of Acute Attacks of Porphyria Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
7 A Study to Evaluate Long-term Safety and Clinical Activity of ALN-AS1 in Patient With Acute Intermittent Porphyria (AIP) Enrolling by invitation NCT02949830 Phase 1, Phase 2
8 Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
9 Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of Porphyria Completed NCT00004398 Phase 1
10 Hemin in Healthy Subjects Completed NCT00882804 Phase 1
11 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1
12 A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP) Recruiting NCT02452372 Phase 1
13 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
14 Study of Nutritional Factors in Porphyria Completed NCT00004788
15 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330
16 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
17 Longitudinal Study of the Porphyrias Recruiting NCT01561157
18 Acute Porphyria Biomarkers Enrolling by invitation NCT02935400
19 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 48 :


Cochrane evidence based reviews: porphyria, acute intermittent

Genetic Tests for Porphyria, Acute Intermittent

Genetic tests related to Porphyria, Acute Intermittent:

id Genetic test Affiliating Genes
1 Acute Intermittent Porphyria 29 24 HMBS
2 Porphyria, Acute Intermittent, Nonerythroid Variant 29

Anatomical Context for Porphyria, Acute Intermittent

MalaCards organs/tissues related to Porphyria, Acute Intermittent:

39
Liver, Skin

Publications for Porphyria, Acute Intermittent

Articles related to Porphyria, Acute Intermittent:

(show all 14)
id Title Authors Year
1
Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent. ( 21488288 )
2010
2
Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent. ( 19320020 )
2009
3
Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent. ( 19320027 )
2009
4
Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent. ( 19694018 )
2009
5
Gene symbol: HMBS. Disease: Porphyria, acute intermittent. ( 18846661 )
2008
6
Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent. ( 18350657 )
2007
7
Gene symbol: HMBS. Disease: porphyria, acute intermittent. ( 16491346 )
2006
8
Gene symbol: HMBS. Disease: porphyria, acute intermittent. ( 17230644 )
2006
9
Gene symbol: HMBS. Disease: porphyria, acute intermittent. ( 17230647 )
2006
10
Gene symbol: HMBS. Disease: Porphyria, acute intermittent. ( 15988829 )
2005
11
Gene symbol: HMBS. Disease: Porphyria, acute intermittent. ( 15991312 )
2005
12
Gene symbol: HMBS. Disease: Porphyria, acute intermittent. ( 15991330 )
2005
13
Gene symbol: HMBS. Disease: porphyria, acute intermittent. ( 15300980 )
2004
14
Gene symbol: HBMS. Disease: Porphyria, acute intermittent. ( 15176381 )
2004

Variations for Porphyria, Acute Intermittent

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

66 (show top 50) (show all 89)
id 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
39 HMBS p.Ser28Asn VAR_011003
40 HMBS p.Ala31Pro VAR_011004
41 HMBS p.Gln34Pro VAR_011005
42 HMBS p.Thr35Met VAR_011006
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
49 HMBS p.Glu209Lys VAR_011014
50 HMBS p.Gly216Asp VAR_011015 rs118204116

ClinVar genetic disease variations for Porphyria, Acute Intermittent:

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

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:

id 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)
id 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 9.58 ALAD CPOX FECH
4 tetrapyrrole biosynthetic process GO:0033014 9.56 ALAD ALAS1 HMBS UROS
5 response to ethanol GO:0045471 9.55 ALAD FECH
6 response to arsenic-containing substance GO:0046685 9.54 ALAD CPOX FECH
7 response to metal ion GO:0010038 9.52 ALAD FECH
8 response to iron ion GO:0010039 9.51 ALAD CPOX
9 response to methylmercury GO:0051597 9.5 ALAD CPOX FECH
10 porphyrin-containing compound biosynthetic process GO:0006779 9.5 ALAD CPOX FECH HMBS PPOX UROD
11 response to inorganic substance GO:0010035 9.49 ALAD CPOX
12 response to insecticide GO:0017085 9.48 CPOX FECH
13 protoporphyrinogen IX metabolic process GO:0046501 9.46 FECH PPOX
14 response to platinum ion GO:0070541 9.43 ALAD FECH
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:

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

Sources for Porphyria, Acute Intermittent

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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43 MESH via Orphanet
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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