MCID: PRP083
MIFTS: 55

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 54 13 42
Acute Intermittent Porphyria 12 72 23 50 24 56 71 29 14 69
Porphobilinogen Deaminase Deficiency 23 50 24 71
Pbgd Deficiency 23 50 24 71
Hydroxymethylbilane Synthase Deficiency 50 24 69
Porphyria, Acute Intermittent, Nonerythroid Variant 54 29
Uroporphyrinogen Synthase Deficiency 50 71
Porphyria, Swedish Type 50 71
Ups Deficiency 50 71
Aip 50 71
Aip - Acute Intermittent Porphyria 12
Porphyria Intermittent Acute 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;

OMIM:

54
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:

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

Classifications:



Summaries for Porphyria, Acute Intermittent

OMIM : 54
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 aip-related familial isolated pituitary adenomas and acromegaly, and has symptoms including seizures, lethargy and hyperlipidemia. 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 : 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.

Wikipedia : 72 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 39)
id Related Disease Score Top Affiliating Genes
1 aip-related familial isolated pituitary adenomas 12.2
2 acromegaly 11.8
3 acute interstitial pneumonia 11.7
4 autoimmune pancreatitis 11.7
5 pituitary adenoma, prolactin-secreting 11.5
6 pituitary adenoma, growth hormone-secreting 11.5
7 porphyria 11.5
8 adenoma 11.4
9 pituitary adenoma 11.4
10 pituitary adenoma, acth-secreting 11.3
11 gigantism 11.3
12 familial isolated pituitary adenoma 11.3
13 pituitary apoplexy 11.2
14 hepatitis b 11.0
15 chester porphyria 10.9
16 hyperpituitarism 10.8
17 functioning pituitary adenoma 10.8
18 hormone producing pituitary cancer 10.8
19 multiple endocrine neoplasia, type iv 10.8
20 carney complex variant 10.8
21 cell type benign neoplasm 10.8
22 organ system benign neoplasm 10.8
23 endocrine organ benign neoplasm 10.8
24 autoimmune pancreatitis type 2 10.8
25 autoimmune pancreatitis type 1 10.8
26 silent pituitary adenoma 10.7
27 null pituitary adenoma 10.7
28 acute porphyria 10.0
29 malaria 9.9
30 crater-like holes of optic disc 8.9 FECH UROD UROS
31 aarskog-scott syndrome 8.3 ALAD ALAS1 FECH UROS
32 erythrokeratodermia variabilis et progressiva 4 7.7 ALAD CPOX FECH HMBS PPOX UROS
33 migraine, with or without aura 13 7.6 ALAD CPOX FECH HMBS UROD UROS
34 porphyria cutanea tarda 7.4 ALAD CPOX FECH HMBS PPOX UROD
35 porphyria variegata 7.3 ALAD CPOX FECH HMBS PPOX UROD
36 multiple symmetrical lipomatosis 7.2 ALAS1 CPOX FECH HMBS PPOX UROD
37 combined oxidative phosphorylation deficiency 30 7.0 ALAD ALAS1 CPOX FECH HMBS PPOX
38 inflammatory bowel disease 28, early onset, autosomal recessive 7.0 ALAD ALAS1 CPOX FECH HMBS PPOX
39 intestinal tuberculosis 6.9 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:

54

Abdomen- Gastroin testinal:
diarrhea
vomiting
constipation
abdominal pain
nausea
more
Neoplasia:
increased incidence of hepatocellular carcinoma

Genitourinary- Bladder:
urinary incontinence
urinary retention
dysuria

Neurologic- Peripheral Nervous System:
weakness
paralysis
acute episodes of neuropathic symptoms
motor, sensory, or autonomic neuropathy

Endocrine Features:
syndrome of inappropriate antidiuretic hormone (siadh)

Neurologic- Central Nervous System:
seizures
depression
anxiety
acute episodes of neuropathic symptoms
paraesthesias
more
Cardiovascular- Heart:
tachycardia

Cardiovascular- Vascular:
hypertension

Respiratory- Lung:
respiratory paralysis

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:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 lethargy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001254
3 hyperlipidemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003077
4 muscle weakness 56 32 Very frequent (99-80%) HP:0001324
5 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
6 depression 56 32 hallmark (90%) Very frequent (99-80%) HP:0000716
7 hallucinations 56 32 occasional (7.5%) Occasional (29-5%) HP:0000738
8 hyponatremia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002902
9 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
10 hypertension 56 32 Frequent (79-30%) HP:0000822
11 myalgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003326
12 arrhythmia 56 32 frequent (33%) Frequent (79-30%) HP:0011675
13 abdominal pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002027
14 hepatocellular carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0001402
15 urinary retention 56 32 hallmark (90%) Very frequent (99-80%) HP:0000016
16 weight loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0001824
17 insomnia 56 32 hallmark (90%) Very frequent (99-80%) HP:0100785
18 hyperhidrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000975
19 anxiety 56 32 hallmark (90%) Very frequent (99-80%) HP:0000739
20 paraparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002385
21 arthralgia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002829
22 diaphragmatic paralysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0006597
23 anorexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002039
24 cranial nerve paralysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0006824
25 paresthesia 56 32 frequent (33%) Frequent (79-30%) HP:0003401
26 nausea and vomiting 56 32 hallmark (90%) Very frequent (99-80%) HP:0002017
27 hypertensive crisis 56 32 frequent (33%) Frequent (79-30%) HP:0100735
28 abnormal urinary color 56 32 hallmark (90%) Very frequent (99-80%) HP:0012086
29 diarrhea 32 HP:0002014
30 vomiting 32 HP:0002013
31 tachycardia 32 HP:0001649
32 urinary incontinence 32 HP:0000020
33 nausea 32 HP:0002018
34 respiratory paralysis 32 HP:0002203
35 paralytic ileus 32 HP:0002590
36 dysuria 32 HP:0100518
37 acute episodes of neuropathic symptoms 32 HP:0003489
38 psychotic episodes 32 HP:0000725
39 elevated urinary delta-aminolevulinic acid 32 HP:0003163
40 behavioral abnormality 56 Very frequent (99-80%)

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
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
4
Chlorpromazine Approved, 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 19)

id Name Status NCT ID Phase Drugs
1 Heme Arginate in Cardiac Surgery Patients Unknown status NCT02142699 Phase 2 Heme arginate
2 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
3 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2 recombinant human porphobilinogen deaminase (Porphozym)
4 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
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 ALN-AS1
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 A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP) Completed NCT02452372 Phase 1 ALN-AS1;Sterile Normal Saline (0.9% NaCl)
10 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
11 Hemin in Healthy Subjects Completed NCT00882804 Phase 1 Hemin infusion;placebo infusion
12 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1 Chlorpromazine Hydrochloride
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 luteinizing hormone-releasing factor
16 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
17 Longitudinal Study of the Porphyrias Recruiting NCT01561157
18 Acute Porphyria Biomarkers Enrolling by invitation NCT02935400 Hemin
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. ( 19694018 )
2009
3
Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent. ( 19320020 )
2009
4
Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent. ( 19320027 )
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. ( 17230647 )
2006
8
Gene symbol: HMBS. Disease: porphyria, acute intermittent. ( 16491346 )
2006
9
Gene symbol: HMBS. Disease: porphyria, acute intermittent. ( 17230644 )
2006
10
Gene symbol: HMBS. Disease: Porphyria, acute intermittent. ( 15988829 )
2005
11
Gene symbol: HMBS. Disease: Porphyria, acute intermittent. ( 15991330 )
2005
12
Gene symbol: HMBS. Disease: Porphyria, acute intermittent. ( 15991312 )
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:

71 (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 iron ion GO:0010039 9.52 ALAD CPOX
8 response to metal ion GO:0010038 9.51 ALAD FECH
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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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