PORC
MCID: CHS007
MIFTS: 13

Chester Porphyria (PORC)

Categories: Rare diseases

Aliases & Classifications for Chester Porphyria

MalaCards integrated aliases for Chester Porphyria:

Name: Chester Porphyria 20
Porphyria, Chester Type 20
Chester-Type Porphyria 70
Porc 20

Classifications:



External Ids:

UMLS 70 C0268322

Summaries for Chester Porphyria

GARD : 20 Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.

MalaCards based summary : Chester Porphyria, also known as porphyria, chester type, is related to porphyria and porphyria, acute intermittent. An important gene associated with Chester Porphyria is HMBS (Hydroxymethylbilane Synthase). The drugs Remifentanil and Fentanyl have been mentioned in the context of this disorder.

Related Diseases for Chester Porphyria

Diseases related to Chester Porphyria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 porphyria 10.3
2 porphyria, acute intermittent 10.2
3 variegate porphyria 10.2
4 acute porphyria 10.1
5 focal dermal hypoplasia 10.0

Graphical network of the top 20 diseases related to Chester Porphyria:



Diseases related to Chester Porphyria

Symptoms & Phenotypes for Chester Porphyria

Drugs & Therapeutics for Chester Porphyria

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
3
Cisatracurium Approved Phase 4 96946-41-7 62887
4
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
5
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
6
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
7
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
8 Anesthetics Phase 4
9 Neuromuscular Nondepolarizing Agents Phase 4
10 Neuromuscular Blocking Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of Post-operative Residual Curarization (PORC) Incidence in Patients Undergoing Surgery With General Anaesthesia; Comparison Between Cisatracurium and Rocuronium. A Randomised, Single-blind Phase 4 Study. Completed NCT01651572 Phase 4 Cisatracurium;Rocuronium

Search NIH Clinical Center for Chester Porphyria

Genetic Tests for Chester Porphyria

Anatomical Context for Chester Porphyria

Publications for Chester Porphyria

Articles related to Chester Porphyria:

# Title Authors PMID Year
1
Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene. 61
17298217 2006
2
Dobson's complaint: the story of the chester porphyria 61
9924082 1999
3
Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism. 61
8340112 1993
4
Chester porphyria: a clinical study of a new form of acute porphyria. 61
3081125 1986
5
Chester porphyria: biochemical studies of a new form of acute porphyria. 61
2864531 1985

Variations for Chester Porphyria

Expression for Chester Porphyria

Search GEO for disease gene expression data for Chester Porphyria.

Pathways for Chester Porphyria

GO Terms for Chester Porphyria

Sources for Chester Porphyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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