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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:acute intermittent porphyria
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Accession:DOID:3890 term browser browse the term
Definition:An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
Synonyms:exact_synonym: AIP;   AIP - acute intermittent porphyria;   HMBS-RELATED CONDITION;   Hydroxymethylbilane Synthase Deficiency;   PBGD Deficiency;   PBGD deficiencies;   Porphobilinogen Deaminase Deficiency;   Swedish Type Porphyria;   Swedish type porphyrias;   UPS deficiencies;   UPS deficiency;   acute intermittent porphyrias;   hydroxymethylbilane synthase deficiencies;   porphobilinogen deaminase deficiencies;   pyrroloporphyria;   uroporphyrinogen synthase deficiencies;   uroporphyrinogen synthase deficiency
 narrow_synonym: PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT
 broad_synonym: ABNORMALITY OF THE HEME BIOSYNTHETIC PATHWAY
 related_synonym: PORC;   PORPHYRIA, CHESTER TYPE
 primary_id: MESH:D017118
 alt_id: OMIM:176000
 xref: GARD:5732;   NCI:C84536;   ORDO:79276
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
acute intermittent porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP-binding cassette, sub-family B member 6 ISO ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036 		JBrowse link
G Aco2 aconitase 2, mitochondrial ISO ClinVar Annotator: match by term: Acute intermittent porphyria ClinVar PMID:25741868 NCBI chr15:81,756,664...81,799,338
Ensembl chr15:81,756,510...81,799,334 		JBrowse link
G Alas2 aminolevulinic acid synthase 2, erythroid ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23650938 RGD:18337288 NCBI chr  X:149,330,443...149,353,614
Ensembl chr  X:149,330,371...149,353,634 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO ClinVar Annotator: match by term: Acute intermittent porphyria ClinVar PMID:28492532 NCBI chr16:58,490,571...58,500,754
Ensembl chr16:58,490,655...58,537,999 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 9:44,237,314...44,247,374
Ensembl chr 9:44,237,316...44,245,197 		JBrowse link
G Hmbs hydroxymethylbilane synthase susceptibility
treatment
severity		 IMP
ISO
IAGP		 ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: HMBS-related condition | ClinVar Annotator: match by term: Porphyria, Swedish type
DNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human)
CTD Direct Evidence: marker/mechanism
OMIM:176000
DNA:mutations:multiple
DNA:missense mutation:cd: p.A330P (human)
DNA:transversion:intron:IVS11-3C>G (human)
DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human)
DNA:SNPs, haplotype:multiple
human gene in a mouse model
DNA:missense mutation:cds: p.V215M (human)
DNA:SNPs, deletion, haplotype:multiple
DNA:deletion:exon 12:669-698del (p.E223_L232del) (human)
human mRNA in a mouse model
DNA:missense mutation:exon 10: p.R173W (173C>T) (human)
DNA:mutations:multiple
DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse)
DNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human)		 ClinVar
OMIM
CTD
MouseDO
RGD		 PMID:1301948 PMID:1427766 PMID:1496994 PMID:1577472 PMID:1714233 More... RGD:4145271, RGD:4144787, RGD:21079449, RGD:21079450, RGD:21079451, RGD:19165353, RGD:19165352, RGD:21079452, RGD:19165351, RGD:21079453, RGD:21079454, RGD:21079455, RGD:21079456, RGD:21079457, RGD:21079458, RGD:21079459, RGD:21079460, RGD:19165358, RGD:21079461, RGD:19165346 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Ppox protoporphyrinogen oxidase IAGP DNA:missense mutation:exon:p.R59W (mouse) RGD PMID:11929050 RGD:4145363 NCBI chr 1:171,104,564...171,108,955
Ensembl chr 1:171,103,563...171,108,760 		JBrowse link
Acute Intermittent Porphyria, Nonerythroid Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant ClinVar PMID:2511016 PMID:2563167 PMID:2915972 PMID:7757070 PMID:7962538 More... NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      endocrine system disease 6334
        liver disease 2942
          Hepatic Porphyrias 22
            acute intermittent porphyria 7
              Acute Intermittent Porphyria, Nonerythroid Variant 1
              Porphyria, Chester Type 0
Path 2
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      nervous system disease 13531
        Neurologic Manifestations 9802
          sensory system disease 6768
            skin disease 3834
              Genetic Skin Diseases 1849
                Hepatic Porphyrias 22
                  acute intermittent porphyria 7
                    Acute Intermittent Porphyria, Nonerythroid Variant 1
                    Porphyria, Chester Type 0
paths to the root