MCID: CHR471
MIFTS: 16

Chronic Hepatic Porphyria

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Chronic Hepatic Porphyria

MalaCards integrated aliases for Chronic Hepatic Porphyria:

Name: Chronic Hepatic Porphyria 59

Characteristics:

Orphanet epidemiological data:

59
chronic hepatic porphyria
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 34 E80.2
Orphanet 59 ORPHA95161

Summaries for Chronic Hepatic Porphyria

MalaCards based summary : Chronic Hepatic Porphyria is related to porphyria and porphyria cutanea tarda. An important gene associated with Chronic Hepatic Porphyria is ALAD (Aminolevulinate Dehydratase). Affiliated tissues include liver, skin and spleen.

Related Diseases for Chronic Hepatic Porphyria

Diseases in the Porphyria, Acute Hepatic family:

Chronic Hepatic Porphyria

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

# Related Disease Score Top Affiliating Genes
1 porphyria 10.7
2 porphyria cutanea tarda 10.5
3 hepatitis c virus 9.9
4 siderosis 9.9
5 hepatitis b 9.9
6 hepatitis 9.9
7 acute porphyria 9.9
8 liver disease 9.9
9 liver cirrhosis 9.9
10 familial porphyria cutanea tarda 9.9

Graphical network of the top 20 diseases related to Chronic Hepatic Porphyria:



Diseases related to Chronic Hepatic Porphyria

Symptoms & Phenotypes for Chronic Hepatic Porphyria

Drugs & Therapeutics for Chronic Hepatic Porphyria

Search Clinical Trials , NIH Clinical Center for Chronic Hepatic Porphyria

Genetic Tests for Chronic Hepatic Porphyria

Anatomical Context for Chronic Hepatic Porphyria

MalaCards organs/tissues related to Chronic Hepatic Porphyria:

41
Liver, Skin, Spleen, Breast

Publications for Chronic Hepatic Porphyria

Articles related to Chronic Hepatic Porphyria:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Multinodular fatty change in the liver in three patients with chronic hepatic porphyria: Contribution of sonography to the diagnosis. 38
30378127 2019
2
[The porphyrin metabolism in liver cirrhosis]. 38
23536946 2013
3
[Multifocal nodular fatty infiltration of the liver associated with porphyria and haemochromatosis]. 38
15011131 2004
4
[Multiple circular liver foci in chronic hepatic porphyria: two sonographic case reports]. 38
10838709 2000
5
Alcohol and porphyrin metabolism. 38
10787385 2000
6
Multinodular fatty change in the liver in patients with chronic hepatic porphyria. 38
10475932 1999
7
[Porphyria cutanea tarda after antineoplastic drugs]. 38
10566234 1999
8
Urinary porphyrin excretion in hepatitis C infection. 38
10536928 1999
9
Porphyrin status in aluminum foundry workers exposed to hexachlorobenzene and octachlorostyrene. 38
10433183 1999
10
[Hepatic porphyrias and alcohol]. 38
10420723 1999
11
[Chronic hepatic porphyria and hepatitis B and C virus infections]. 38
9818466 1998
12
Type of impaired porphyrin metabolism caused by hepatitis C virus is not porphyria cutanea tarda but chronic hepatic porphyria. 38
9301601 1997
13
[Detection of HCV RNA in anti-HCV positive patients with chronic hepatic porphyria]. 38
8925541 1996
14
[Porphyria cutanea tarda (chronic hepatic porphyria)]. 38
7555665 1995
15
[The frequency of viral hepatitis C in patients with porphyria cutanea tarda]. 38
7525065 1994
16
Porphyrin studies in TCDD-exposed workers. 38
7998828 1994
17
Composition of urinary coproporphyrin isomers I-IV in human porphyrias. 38
8292661 1993
18
[Activity of delta-aminolaevulinic acid (ALAD) in erythrocytes of patients with chronic hepatic porphyria (porphyria cutanea tarda)]. 38
8100994 1993
19
[Liver cirrhosis and chronic hepatic porphyria]. 38
7483690 1993
20
[Chronic hepatic porphyria (porphyria cutanea tarda)]. 38
7900995 1993
21
[Three cases of chronic hepatic porphyria demonstrating the image similar to focal fatty change in the liver]. 38
2077166 1990
22
[Significant laparoscopy and ultrasound findings in chronic hepatic porphyria]. 38
2146456 1990
23
Multiple nodular foci in the liver associated with chronic hepatic porphyria after previous treatment of breast cancer. 38
2664332 1989
24
[Porphyria cutanea tarda (chronic hepatic porphyria): new aspects on pathogenesis, diagnosis and therapy with a review of the workshop, "Cutaneous porphyrias" at the 17th World Congress of Dermatology in Berlin 1987]. 38
3291437 1988
25
The effect of iron overload on the mitochondrial porphyrin level in the hexachlorobenzene induced experimental porphyria. 38
3348779 1988
26
A classification of liver tumours occurring in chronic hepatic porphyria. 38
2839017 1987
27
Porphyrinurias and occupational disease. 38
3327428 1987
28
Treatment of chronic hepatic porphyria (PCT). 38
3703715 1986
29
Hereditary uroporphyrinogen-decarboxylase deficiency predisposing porphyria cutanea tarda (chronic hepatic porphyria) in females after oral contraceptive medication. 38
4096525 1985
30
[Morphology of liver damage in chronic hepatic porphyria with special reference to the effect of therapy]. 38
6091088 1984
31
Vinyl chloride-induced hepatic coproporphyrinuria with transition to chronic hepatic porphyria. 38
6708400 1984
32
Development of chronic hepatic porphyria (porphyria cutanea tarda) with inherited uroporphyrinogen decarboxylase deficiency under exposure to dioxin. 38
6714509 1984
33
[Paracrystalline needle-shaped cytoplasmic liver cell inclusions in chronic hepatic porphyria--light and electron microscopic examination of liver biopsy specimens]. 38
6308924 1983
34
[Hodgkin's disease as manifestation factor of chronic hepatic porphyria (author's transl)]. 38
7238330 1981
35
[Chronic hepatic porphyria with uroporphyrinogen decarboxylase defect in four generations (author's transl)]. 38
7472211 1981
36
Alcohol-induced decrease in uroporphyrinogen decarboxylase activity in rat liver and spleen. 38
7194180 1981
37
[Hereditary and non-hereditary form of chronic hepatic porphyria: different behaviour of uroporphyrinogen decarboxylase in liver and erythrocytes (author's transl)]. 38
7206594 1980
38
Uroporphyrinogen decarboxylase deficiency in experimental chronic hepatic porphyria. 38
7409755 1980
39
Pathobiochemical transition of secondary coproporphyrinuria to chronic hepatic porphyria in humans. 38
7366128 1980
40
The incidence of chronic hepatic porphyria in an Italian family. 38
7450145 1980
41
[Alcohol-induced changes of porphyrin metabolism (author's transl)]. 38
359965 1978
42
[Uroporphyrinogen decarboxylase in erythrocytes: studies on the primary genetic enzyme defect in chronic hepatic porphyria (author's transl)]. 38
712342 1978
43
[Laparoscopic findings in chronic hepatic porphyria (author's transl)]. 38
147373 1978
44
Hexachlorobenzene porphyria in rats as a model for human chronic hepatic porphyrias. 38
1008488 1976
45
[Acute psychotic paranoid episode in a case of chronic hepatic porphyria]. 38
4843073 1974
46
[Porphyrin demonstration in cerebrospinal fluid in chronic hepatic porphyria]. 38
4691573 1973
47
Chronic hepatic porphyria type C. 38
5562598 1971
48
Chronic hepatic porphyria in chronic aggressive hepatitis. 38
5545963 1971
49
[Detection and localization of porphyrins in renal bioptic material in chronic hepatic porphyria (porphyria cutanea tatrda) by means of fluorescence microscopy]. 38
5522120 1970
50
[Protein changes in chronic hepatic porphyria]. 38
6005181 1966

Variations for Chronic Hepatic Porphyria

Expression for Chronic Hepatic Porphyria

Search GEO for disease gene expression data for Chronic Hepatic Porphyria.

Pathways for Chronic Hepatic Porphyria

GO Terms for Chronic Hepatic Porphyria

Sources for Chronic Hepatic Porphyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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