MCID: CHS007
MIFTS: 11

Chester Porphyria

Categories: Rare diseases

Aliases & Classifications for Chester Porphyria

MalaCards integrated aliases for Chester Porphyria:

Name: Chester Porphyria 53
Porphyria, Chester Type 53
Chester-Type Porphyria 73
Porc 53

Classifications:



External Ids:

UMLS 73 C0268322

Summaries for Chester Porphyria

NIH Rare Diseases : 53 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 acute porphyria. 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 10.1
2 acute porphyria 10.0

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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