MCID: CHS007
MIFTS: 10

Chester Porphyria

Categories: Rare diseases

Aliases & Classifications for Chester Porphyria

MalaCards integrated aliases for Chester Porphyria:

Name: Chester Porphyria 54
Porphyria, Chester Type 54
Chester-Type Porphyria 74
Porc 54

Classifications:



External Ids:

UMLS 74 C0268322

Summaries for Chester Porphyria

NIH Rare Diseases : 54 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).

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 acute porphyria 10.2

Symptoms & Phenotypes for Chester Porphyria

Drugs & Therapeutics for Chester Porphyria

Search Clinical Trials , 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 Year
1
Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene. ( 17298217 )
2006
2
Dobson's complaint: the story of the chester porphyria ( 9924082 )
1999
3
Chester porphyria: a clinical study of a new form of acute porphyria. ( 3081125 )
1986
4
Chester porphyria: biochemical studies of a new form of acute porphyria. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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