HCP
MCID: CPR004
MIFTS: 57

Coproporphyria, Hereditary (HCP)

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

Aliases & Classifications for Coproporphyria, Hereditary

MalaCards integrated aliases for Coproporphyria, Hereditary:

Name: Coproporphyria, Hereditary 56 43 39
Hereditary Coproporphyria 12 74 24 52 58 73 29 6 15 71
Coproporphyria 56 74 52 29 13 54 6 71
Coproporphyrinogen Oxidase Deficiency 56 12 52 73
Harderoporphyria 56 6 71
Cpo Deficiency 56 52 73
Hcp 56 52 73
Hereditary Coproporphyria Porphyria 12 52
Coproporphyria Hereditary 52 54
Cpox Deficiency 56 73
Cpro Deficiency 52 73
Cpx Deficiency 56 52
Porphyria, Hereditary Coproporphyria 74
Porphyria Hepatica Coproporphyria 52
Porphyria Hepatica Ii 52

Characteristics:

Orphanet epidemiological data:

58
hereditary coproporphyria
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult;

OMIM:

56
Miscellaneous:
incomplete penetrance
mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria
attacks rarely occur before puberty (hcp)
attacks precipitated by drugs, alcohol, and endocrine factors (hcp)
no abdominal symptoms or neurologic symptoms in harderoporphyria

Inheritance:
autosomal dominant


HPO:

31
coproporphyria, hereditary:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


GeneReviews:

24
Penetrance Because population studies to determine the prevalence of hcp heterozygosity have not been done, the penetrance of cpox pathogenic variants is unknown. given the rarity of acute attacks of hcp relative to acute intermittent porphyria (aip), it is suspected that only a small minority of cpox heterozygotes express the clinical disease. in 32 members of an australian family, 14 (including 10 adults) were determined to have hcp on the basis of a high fecal copro iii/i ratio and/or low lymphocyte cpox enzyme activity; however, only one had clinical symptoms of porphyria [blake et al 1992]....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Coproporphyria, Hereditary

NIH Rare Diseases : 52 Hereditary coproporphyria (HCP) is a rare inherited form of liver (hepatic) porphyria , characterized by neurological symptoms in the form of episodes (acute attacks) of stomach pain, nausea, vomiting, weakness, numbness, and pain in the hands and feet (neuropathy ). The porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body's organs . Symptoms usually begin around 20-30 years of age, but have been reported at younger ages. Signs and symptoms present during the attacks may include body pain, nausea and vomiting, increased heart rate (tachycardia ), and high blood pressure . Less common symptoms include seizures , skin lesions, and paralysis of the arms and legs, body trunk, and respiratory muscles. Most individuals with HCP do not have any signs or symptoms between attacks. HCP is caused by mutations in the CPOX gene and is inherited in an autosomal dominant manner. Diagnosis is based on the symptoms and specific blood, urine and stool testing. Treatment is based on preventing the symptoms. An acute attack requires hospitalization, medications, and treatment with heme therapy.

MalaCards based summary : Coproporphyria, Hereditary, also known as hereditary coproporphyria, is related to hemosiderosis and deficiency anemia. An important gene associated with Coproporphyria, Hereditary is CPOX (Coproporphyrinogen Oxidase), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll metabolism. The drugs Midazolam and Losartan have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and testes, and related phenotypes are nausea and vomiting and depressivity

OMIM : 56 Hereditary coproporphyria, an acute hepatic porphyria, is characterized by acute attacks of neurologic dysfunction often provoked by drugs, fasting, menstrual cycle, or infectious diseases. Skin photosensitivity may also be present. Inheritance is usually autosomal dominant, but autosomal recessive inheritance can also occur. Excretion of large amounts of coproporphyrin III, mostly in feces and urine, is observed. Harderoporphyria is a rare homozygous erythropoietic variant form of HCP, characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. During childhood and adulthood, a mild residual anemia is chronically observed (review by Schmitt et al., 2005). (121300)

UniProtKB/Swiss-Prot : 73 Hereditary coproporphyria: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Hereditary coproporphyria is an acute hepatic porphyria characterized by skin photosensitivity, attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Hereditary coproporphyria is biochemically characterized by overexcretion of coproporphyrin III in the urine and in the feces.

Wikipedia : 74 Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic... more...

GeneReviews: NBK114807

Related Diseases for Coproporphyria, Hereditary

Diseases related to Coproporphyria, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 69, show less)
# Related Disease Score Top Affiliating Genes
1 hemosiderosis 29.6 UROD ALAS2
2 deficiency anemia 29.3 FECH ALAS2 ALAD
3 porphyria, congenital erythropoietic 28.9 UROS UROD HMBS FECH CPOX ALAD
4 porphyria 27.6 UROS UROD PPOX HMBS FECH CPOX
5 variegate porphyria 27.5 UROS UROD PPOX HMBS FECH CPOX
6 protoporphyria, erythropoietic, 1 27.3 UROS UROD PPOX HMBS FECH CPOX
7 porphyria cutanea tarda 27.2 UROS UROD PPOX HMBS FECH CPOX
8 acute porphyria 27.1 UROS UROD PPOX HMBS FECH CPOX
9 porphyria, acute intermittent 25.6 UROS UROD SLC15A2 PPOX HMBS FLVCR1
10 hemolytic anemia 10.3
11 hantavirus pulmonary syndrome 10.3
12 cholera 10.3
13 respiratory failure 10.2
14 peripheral nervous system disease 10.2
15 neuropathy 10.2
16 erythrasma 10.2 PPOX CPOX
17 scleromalacia perforans 10.2 UROS CPOX
18 multiple sclerosis 10.2
19 premature ovarian failure 7 10.2
20 neonatal anemia 10.1
21 bilirubin metabolic disorder 10.1
22 esophageal cancer 10.1
23 papillomatosis, confluent and reticulated 10.1
24 arts syndrome 10.1
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
26 cardiac arrest 10.1
27 pulmonary edema 10.1
28 hemolytic-uremic syndrome 10.1
29 campylobacteriosis 10.1
30 end stage renal failure 10.1
31 hypoglycemia 10.1
32 polyneuropathy 10.0
33 constipation 10.0
34 cicatricial ectropion 10.0 UROS UROD
35 angioedema, hereditary, type i 10.0
36 hepatocellular carcinoma 10.0
37 porphyria cutanea tarda, type i 10.0
38 immune deficiency disease 10.0
39 ataxia and polyneuropathy, adult-onset 10.0
40 hydrops, lactic acidosis, and sideroblastic anemia 10.0
41 rickets 10.0
42 autonomic neuropathy 10.0
43 visual epilepsy 10.0
44 quadriplegia 10.0
45 hereditary angioedema 10.0
46 epilepsy 10.0
47 cholecystitis 10.0
48 demyelinating disease 10.0
49 lactic acidosis 10.0
50 intestinal pseudo-obstruction 10.0
51 hypokalemia 10.0
52 acquired immunodeficiency syndrome 10.0
53 ileus 10.0
54 ariboflavinosis 10.0
55 hydroa vacciniforme 10.0
56 encephalopathy 10.0
57 seizure disorder 10.0
58 rare hereditary hemochromatosis 10.0
59 x-linked protoporphyria 9.9 FECH ALAS2
60 anemia, sideroblastic, and spinocerebellar ataxia 9.9 FECH ALAS2
61 photoparoxysmal response 1 9.9 UROD PPOX FECH
62 hypertrichosis 9.8 UROS UROD PPOX
63 neuropathy, hereditary sensory and autonomic, type viii 9.6 FLVCR1 ALAS1
64 macrocytic anemia 9.5 FECH ALAS2
65 hemochromatosis, type 1 9.5 UROD FECH ALAS2
66 sideroblastic anemia 9.2 UROD FECH ALAS2 ALAS1
67 aceruloplasminemia 9.0 FLVCR1 ALAS2 ALAS1
68 anemia, sideroblastic, 1 9.0 UROS FECH ALAS2 ALAS1 ALAD
69 cutaneous porphyria 7.3 UROS UROD PPOX HMBS FLVCR1 FECH

Graphical network of the top 20 diseases related to Coproporphyria, Hereditary:



Diseases related to Coproporphyria, Hereditary

Symptoms & Phenotypes for Coproporphyria, Hereditary

Human phenotypes related to Coproporphyria, Hereditary:

58 31 (showing 34, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
3 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
4 irritability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000737
5 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
6 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
7 anxiety 58 31 hallmark (90%) Very frequent (99-80%) HP:0000739
8 confusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0001289
9 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
10 abnormal blistering of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008066
11 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
12 hypermelanotic macule 58 31 frequent (33%) Frequent (79-30%) HP:0001034
13 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
14 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
15 visual hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002367
16 hyponatremia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002902
17 respiratory paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002203
18 hypertrichosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000998
19 tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001649
20 auditory hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0008765
21 hypertension 31 HP:0000822
22 splenomegaly 31 HP:0001744
23 hepatomegaly 31 HP:0002240
24 behavioral abnormality 58 Very frequent (99-80%)
25 hallucinations 31 HP:0000738
26 vomiting 31 HP:0002013
27 abnormality of metabolism/homeostasis 31 HP:0001939
28 peripheral neuropathy 31 HP:0009830
29 jaundice 31 HP:0000952
30 paranoia 31 HP:0011999
31 diarrhea 31 HP:0002014
32 insomnia 31 HP:0100785
33 acute episodes of neuropathic symptoms 31 HP:0003489
34 congenital hemolytic anemia 31 HP:0004804

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
peripheral neuropathy

Cardiovascular Vascular:
hypertension (hcp)

Abdomen Liver:
hepatomegaly (harderoporphyria)

Abdomen Gastrointestinal:
abdominal pain (hcp)
severe constipation
vomiting (hcp)
diarrhea (hcp)

Neurologic Central Nervous System:
acute episodes of neuropathic symptoms (hcp)
paresis (hcp)

Hematology:
neonatal hemolytic anemia (harderoporphyria)

Cardiovascular Heart:
tachycardia (hereditary coproporphyria, hcp)

Respiratory Lung:
respiratory paralysis (hcp)

Abdomen Spleen:
splenomegaly (harderoporphyria)

Skin Nails Hair Skin:
photosensitivity (harderoporphyria and hcp)
jaundice (harderoporphyria)

Neurologic Behavioral Psychiatric Manifestations:
anxiety (hcp)
depression (hcp)
insomnia (hcp)
disorientation (hcp)
hallucinations (hcp)
more
Laboratory Abnormalities:
decreased coproporphyrinogen oxidase activity (hcp, lymphocytes, 50% of normal)
increased coproporphyrin isomer iii:i ratio (hcp, feces)
increased harderoporphyrin excretion (feces, harderoporphyria)
markedly decreased coproporphyrinogen oxidase activity (harderoporphyria, lymphocytes)

Clinical features from OMIM:

121300

MGI Mouse Phenotypes related to Coproporphyria, Hereditary:

45 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 ALAD ALAS2 CPOX FECH FLVCR1 HMBS
2 mortality/aging MP:0010768 9.65 ALAD ALAS1 ALAS2 CPOX FECH FLVCR1
3 renal/urinary system MP:0005367 9.02 FLVCR1 HMBS PPOX SLC15A2 UROS

Drugs & Therapeutics for Coproporphyria, Hereditary

Drugs for Coproporphyria, Hereditary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 17, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
2
Losartan Approved Phase 1 114798-26-4 3961
3
Guaifenesin Approved, Investigational, Vet_approved Phase 1 93-14-1 3516
4
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
5
Caffeine Approved Phase 1 58-08-2 2519
6
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
7 Neurotransmitter Agents Phase 1
8 Gastrointestinal Agents Phase 1
9 Proton Pump Inhibitors Phase 1
10 Respiratory System Agents Phase 1
11 Anti-Ulcer Agents Phase 1
12 Antitussive Agents Phase 1
13 Chlorpheniramine, phenylpropanolamine drug combination Phase 1
14 Excitatory Amino Acid Antagonists Phase 1
15 Excitatory Amino Acids Phase 1
16 Antacids Phase 1
17
Aminolevulinic acid Approved 106-60-5 137

Interventional clinical trials:

(showing 10, show less)
# Name Status NCT ID Phase Drugs
1 ENVISION: A Phase 3 Randomized, Double-blind, Placebo-Controlled Multicenter Study With an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients With Acute Hepatic Porphyrias Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
2 Safety and Efficacy of Panhematin™ for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
3 A Drug-Drug Interaction Study to Investigate the Effect of Givosiran on the Pharmacokinetics (PK) of Midazolam, Caffeine, Losartan, Omeprazole, and Dextromethorphan in Patients With Acute Intermittent Porphyria (AIP) Who Are Asymptomatic High Excreters (ASHE) Completed NCT03505853 Phase 1 Givosiran;5-probe cocktail
4 Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria Completed NCT03906214
5 Clinical Diagnosis of Acute Porphyria Completed NCT01568554
6 A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks Recruiting NCT02240784
7 Longitudinal Study of the Porphyrias Recruiting NCT01561157
8 Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment Active, not recruiting NCT02935400 Hemin
9 Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria (AHP) Available NCT04056481 Givosiran
10 INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP Terminated NCT03547297

Search NIH Clinical Center for Coproporphyria, Hereditary

Cochrane evidence based reviews: coproporphyria, hereditary

Genetic Tests for Coproporphyria, Hereditary

Genetic tests related to Coproporphyria, Hereditary:

# Genetic test Affiliating Genes
1 Hereditary Coproporphyria 29 CPOX
2 Coproporphyria 29

Anatomical Context for Coproporphyria, Hereditary

MalaCards organs/tissues related to Coproporphyria, Hereditary:

40
Skin, Liver, Testes, Heart, Bone, Kidney, Bone Marrow

Publications for Coproporphyria, Hereditary

Articles related to Coproporphyria, Hereditary:

(showing 284, show less)
# Title Authors PMID Year
1
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria. 54 61 24 56 6
11309681 2001
2
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. 61 24 56 6
21103937 2011
3
Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria. 54 61 56 6
12181641 2002
4
Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis. 54 61 56 6
9454777 1998
5
A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. 54 61 56 6
7757079 1995
6
Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria. 54 61 24 56
16159891 2005
7
A molecular, enzymatic and clinical study in a family with hereditary coproporphyria. 61 56 6
12227458 2002
8
Harderoporphyria: a variant hereditary coproporphyria. 61 56 6
6886003 1983
9
Homozygous case of hereditary coproporphyria. 61 56 6
74745 1977
10
Hereditary coproporphyria. Demonstration of the abnormalities in haem biosynthesis in peripheral blood. 61 24 56
866576 1977
11
Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. 61 24 52
19460837 2009
12
Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family. 54 61 6
9843038 1998
13
Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. 54 61 56
8012360 1994
14
Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase. 54 61 6
8286403 1994
15
Acute hepatic porphyrias: Recommendations for evaluation and long-term management. 24 52
28605040 2017
16
Hereditary Coproporphyria 61 6
23236641 2012
17
Structural basis of hereditary coproporphyria. 54 61 24
16176984 2005
18
Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family. 61 56
16151909 2005
19
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. 54 61 24
9888388 1999
20
Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping. 61 6
7987309 1994
21
Acute peripheral neuropathy due to hereditary coproporphyria. 61 56
8008008 1994
22
Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase. 61 6
8159699 1994
23
Hereditary coproporphyria: incidence in a large English family. 61 56
6502649 1984
24
Hereditary coproporphyria presenting with photosensitivity induced by the contraceptive pill. 61 56
871392 1977
25
The primary enzyme defect in hereditary coproporphyria. 61 56
63041 1976
26
Hereditary coproporphyria. Photosensitivity, jaundice and neuropsychiatric manifestations associated with pregnancy. 61 56
5575195 1971
27
Hepatic delta-aminolaevulinic acid synthetase in an attack of hereditary coproporphyria and during remission. 61 56
4100900 1971
28
Stool porphyrins in acute intermittent and hereditary coproporphyria. Adverse effect of tranquilizers. 61 56
4393048 1970
29
Hereditary coproporphyria. A family with unusually few and mild symptoms. 61 56
5807649 1969
30
Hereditary coproporphyria. 61 56
4173691 1968
31
Hereditary coproporphyria. Study of a Swedish family. 61 56
5667765 1968
32
Hereditary coproporphyria. 61 56
4163920 1967
33
Hereditary coproporphyria with acute intermittent manifestations. 61 56
5838412 1965
34
Hereditary coproporphyria. 61 56
14378650 1955
35
Acute Hepatic Porphyrias: Review and Recent Progress. 61 52
30766957 2019
36
A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp). 61 24
29660996 2018
37
Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria. 61 24
28349448 2017
38
A case of hereditary coproporphyria precipitated by efavirenz. 61 24
27465283 2016
39
Liver failure after Hydroxycut™ use in a patient with undiagnosed hereditary coproporphyria. 61 24
25666208 2015
40
The incidence of inherited porphyrias in Europe. 61 52
23114748 2013
41
Acute porphyria presenting as epilepsia partialis continua. 61 24
23898283 2013
42
Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria. 61 24
21231929 2012
43
Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria. 61 24
21734717 2011
44
Haem arginate as effective maintenance therapy for hereditary coproporphyria. 61 24
21605099 2011
45
Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. 61 24
16398658 2006
46
Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients. 61 24
11074238 2000
47
Three novel mutations in the coproporphyrinogen oxidase gene. 6
8990017 1997
48
Coproporphyrinogen oxidase. Purification, molecular cloning, and induction of mRNA during erythroid differentiation. 56
8407975 1993
49
Fecal coproporphyrin isomers in hereditary coproporphyria. 61 24
1733615 1992
50
Harderoporphyrin coproporphyria. 56
6143037 1984
51
Update review of the acute porphyrias. 52
27982422 2017
52
Role of delta-aminolevulinic acid in the symptoms of acute porphyria. 24
25446301 2015
53
High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria. 24
23344888 2013
54
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. 24
22232210 2012
55
Liver transplantation from donors with acute intermittent porphyria. 24
21502660 2011
56
Acute intermittent porphyria in pregnancy: a common misdiagnosis. 24
21355451 2010
57
Four novel mutations of the coproporphyrinogen III oxidase gene. 54 61
19267996 2009
58
Case records of the Massachusetts General Hospital. Case 20-2008. A 57-year-old woman with abdominal pain and weakness after gastric bypass surgery. 24
18579817 2008
59
Investigation of the catalytic and structural roles of conserved histidines of human coproporphyrinogen oxidase using site-directed mutagenesis. 54 61
17179900 2007
60
Treatment of an acute attack of porphyria during pregnancy. 24
16796597 2006
61
Reconstitution of hematin for intravenous infusion. 24
16585674 2006
62
Characterization of the heme synthesis enzyme coproporphyrinogen oxidase (CPO) in zebrafish erythrogenesis. 54 61
16483317 2006
63
Recommendations for the diagnosis and treatment of the acute porphyrias. 24
15767622 2005
64
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 54 61
14669009 2004
65
Liver transplantation as a cure for acute intermittent porphyria. 24
15001330 2004
66
Oxygen-dependent coproporphyrinogen-III oxidase from Escherichia coli: one-step purification and biochemical characterisation. 54 61
13129604 2003
67
Acute intermittent porphyria in women: clinical expression, use and experience of exogenous sex hormones. A population-based study in northern Sweden. 24
12859699 2003
68
Pregnancy with acute intermittent porphyria: a case report and review of literature. 24
12214832 2002
69
Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria. 54 61
11929047 2002
70
[Coexistence of hereditary coproporphyria and porphyria cutanea tarda: a new form of dual porphyria]. 54 61
11831056 2002
71
DGGE analysis of the coproporphyrinogen oxidase gene: two new mutations in DNA from Danish patients with hereditary coproporphyria. 54 61
11202054 2000
72
Prevalence of acute intermittent porphyria in a Mexican psychiatric population. 24
11068084 2000
73
Effect of hepatobiliary disease, chronic hepatitis C and hepatitis B virus infections and interferon-alpha on porphyrin profiles in plasma, urine and faeces. 24
10735544 2000
74
A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family. 54 61
9747031 1998
75
Acute intermittent porphyria precipitated by hyperemesis and metoclopramide treatment in pregnancy. 24
9197454 1997
76
A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria. 54 61
9048920 1997
77
Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene. 54 61
9298818 1997
78
Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant. 54 61
8621830 1996
79
Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria. 54 61
7592568 1995
80
Oxidative damage of mitochondria induced by 5-aminolevulinic acid: role of Ca2+ and membrane protein thiols. 24
7947907 1994
81
Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12. 54 61
7959694 1994
82
Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria. 54 61
7849704 1994
83
Composition of urinary coproporphyrin isomers I-IV in human porphyrias. 54 61
8292661 1993
84
[Acute intermittent porphyria in pregnancy: glucose or hematin therapy?]. 24
1448679 1992
85
Treatment of porphyric convulsions with magnesium sulfate. 24
1915181 1991
86
Hereditary coproporphyria: an imitator of multiple sclerosis. 54 61
1859268 1991
87
Instability of hematin used in the treatment of acute hepatic porphyria. 24
3724815 1986
88
Twenty-five years of progress in bilirubin metabolism (1952-77). 24
98394 1978
89
Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study. 61
31264284 2020
90
Molecular analysis of 19 Spanish patients with mixed porphyrias. 61
30476629 2019
91
Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families. 61
31745600 2019
92
Neurological and neuropsychiatric manifestations of porphyria. 61
31402774 2019
93
Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. 61
30385147 2019
94
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. 61
30594473 2019
95
Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs). 61
30987916 2019
96
Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction. 61
31706631 2019
97
Heme biosynthesis and the porphyrias. 61
31326287 2019
98
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies. 61
30737139 2019
99
Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias. 61
31153822 2019
100
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. 61
31073229 2019
101
Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword. 61
30413387 2019
102
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias. 61
31154864 2019
103
Clinical Guide and Update on Porphyrias. 61
31085196 2019
104
A case report of hereditary coproporphyria with neurological, haematological and renal involvement. 61
30948142 2019
105
[The cutaneous porphyrias]. 61
30709634 2019
106
[Porphyrias-what is verified?] 61
30328490 2018
107
Porphyria: What Is It and Who Should Be Evaluated? 61
29553924 2018
108
A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen. 61
28600349 2017
109
An overview of the cutaneous porphyrias. 61
29152226 2017
110
Hepatic porphyria: A narrative review. 61
27796941 2016
111
Cutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1989-2013. 61
27139922 2016
112
[Neurocutaneous porphyrias]. 61
26743053 2016
113
Cerebral Hypoperfusion in Hereditary Coproporphyria (HCP): A Single Photon Emission Computed Tomography (SPECT) Study. 61
26680773 2016
114
Acute Porphyrias. 61
26159905 2015
115
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. 61
26132003 2015
116
Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. 61
25016127 2014
117
Drugs and acute porphyrias: reasons for a hazardous relationship. 61
25387219 2014
118
Liver transplantation in the management of porphyria. 61
24700519 2014
119
The cutaneous porphyrias. 61
24891059 2014
120
Lamotrigine in the treatment of psychotic depression associated with hereditary coproporphyria -- case report and a brief review of the literature. 61
24687017 2014
121
Porphyria and its neurologic manifestations. 61
24365356 2014
122
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP). 61
24997713 2014
123
The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria. 61
24078084 2013
124
[Hereditary coproporphyria from clinician's point of view--a case report]. 61
24245452 2013
125
Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing. 61
23582006 2013
126
Best practice guidelines on clinical management of acute attacks of porphyria and their complications. 61
23605132 2013
127
Role of genetic testing in the management of patients with inherited porphyria and their families. 61
23605133 2013
128
Neuropathic pain in hereditary coproporphyria. 61
24353603 2013
129
Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia. 61
24156084 2013
130
Kidney transplantation in hereditary coproporphyria using tacrolimus and mycophenolate mofetil: a case report. 61
24315002 2013
131
Cerebral vasospasm and anterior circulation stroke secondary to an exacerbation of hereditary corproporphyria. 61
23144304 2012
132
Schizoaffective disorder with missed diagnosis of acute porphyria: a case report and overview. 61
22454794 2011
133
[Porphyrias]. 61
21104216 2010
134
The acute hepatic porphyrias: current status and future challenges. 61
20955962 2010
135
Acute exacerbation of hereditary coproporphyria mimics early surgical infection following intrathecal pump implantation for chronic abdominal pain: A case report. 61
21992886 2010
136
Porphyria in Switzerland, 15 years experience. 61
19350426 2009
137
A family with acute intermittent porphyria. 61
18541093 2008
138
[Oxidative stress in porphyria and carriers]. 61
18567368 2008
139
Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Uroporphyrinogen decarboxylase and coproporphyrinogen III oxidase. 61
18294003 2008
140
Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation. 61
18557518 2008
141
A comparative density-functional study of the reaction mechanism of the O2-dependent coproporphyrinogen III oxidase. 61
18226911 2008
142
Rapid quantitative method using spin columns to measure porphobilinogen in urine. 61
18223134 2008
143
Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria. 61
18221605 2007
144
Delayed diagnosis of porphyria based on manifestations of systemic lupus erythematosus and ankylosing spondylitis. 61
17048215 2006
145
A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America. 61
16433813 2006
146
Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain. 61
15896662 2005
147
Hereditary coproporphyria: case report of an acute crisis. 61
16010787 2005
148
Molecular mechanisms of dominant expression in porphyria. 61
15868463 2005
149
Neurovisceral porphyrias: what a hematologist needs to know. 61
16304355 2005
150
Crystal structure of the oxygen-dependant coproporphyrinogen oxidase (Hem13p) of Saccharomyces cerevisiae. 61
15194705 2004
151
Porphyrias in Japan: compilation of all cases reported through 2002. 61
15239394 2004
152
Levetiracetam in focal epilepsy and hepatic porphyria: a case report. 61
15101839 2004
153
Identification of monovinyl tripropionic acid porphyrins and metabolites from faeces of patients with hereditary coproporphyria by high-performance liquid chromatography/electrospray ionization quadrupole time-of-flight tandem mass spectrometry. 61
15384152 2004
154
[Porphyria and inappropriate antidiuretic hormone syndrome]. 61
15219077 2004
155
The Atkins Diet as a possible trigger for an ICU admission: a case report. 61
16573483 2003
156
[An acute attack of hereditary coproporphyria concomitant with severe generalized polyneuropathy and respiratory insufficiency]. 61
12918208 2003
157
A description of an HPLC assay of coproporphyrinogen III oxidase activity in mononuclear cells. 61
14605502 2003
158
Olanzapine use in acute porphyria. 61
24937245 2003
159
[Clinical manifestations of porphyrin metabolism disorders]. 61
12934485 2003
160
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart. 61
12699245 2002
161
Human hereditary hepatic porphyrias. 61
12367763 2002
162
Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism. 61
11739202 2001
163
Erythropoietic and hepatic porphyrias. 61
11117426 2000
164
Function and structure of rat hepatic coproporphyrinogen oxidase. 61
11079369 2000
165
Acute porphyric disorders. 61
10982942 2000
166
Simple and rapid method for the determination of coproporphyrinogen oxidase activity. 54
10899392 2000
167
Alcohol and porphyrin metabolism. 61
10787385 2000
168
Uneventful propofol anesthesia in a patient with coexisting hereditary coproporphyria and hereditary angioneurotic edema. 61
10691250 2000
169
The cutaneous porphyrias. 61
10604794 1999
170
Biochemical differentiation of the porphyrias. 61
10638943 1999
171
Compound heterozygous hereditary coproporphyria with fluorescing teeth. 61
10505225 1999
172
Use of olanzapine in hereditary coproporphyria. 61
10479951 1999
173
Plasma porphyrins in the porphyrias. 61
10388484 1999
174
Studies on coproporphyrin isomers in urine and feces in the porphyrias. 61
10340433 1999
175
Prevention of premenstrual exacerbation of hereditary coproporphyria by gonadotropin-releasing hormone analogue. 61
10361911 1999
176
Management of the acute porphyrias. 61
9638723 1998
177
Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology. 61
9516679 1998
178
[Hereditary coproporphyria (HCP)]. 61
9645027 1998
179
Hereditary coproporphyria. 61
9516675 1998
180
Occurrence of hepatocellular carcinoma in a case of hereditary coproporphyria. 61
9260820 1997
181
Hepatic porphyrias in children. 61
9211196 1997
182
Molecular defects of the coproporphyrinogen oxidase gene in hereditary coproporphyria. 61
9074789 1997
183
Multiple chemical sensitivity syndrome and porphyria. A note of caution and concern. 61
9040294 1997
184
Review: molecular pathogenesis of hepatic acute porphyrias. 61
8985829 1996
185
Family study of acute intermittent porphyria and hereditary coproporphyria in Niigata and Akita Prefectures, Japan. 61
8826991 1996
186
[Acute porphyria and multiple organ failure during treatment with lamotrigine]. 61
8701527 1996
187
Safety of isoflurane and epidural anesthesia in a patient with hereditary coproporphyria. 61
23839560 1996
188
[Acute hepatic porphyria and its neurological syndrome]. 61
8571113 1996
189
Excretion pattern of faecal coproporphyrin isomers I-IV in human porphyrias. 61
8845420 1995
190
Hormonal oral contraceptives, urinary porphyrin excretion and porphyrias. 61
7590628 1995
191
[Screening program with urinary porphyrins--application to clinical finding in latent porphyrias]. 61
7616669 1995
192
[Hereditary coproporphyria (Hepatic coproporphyria), Erythropoietic coproporphyria]. 61
7616659 1995
193
Relation between uroporphyrin excretion, acute attacks of hereditary coproporphyria and successful treatment with haem arginate. 61
7736708 1995
194
Hereditary coproporphyria. 61
8650841 1994
195
Propofol and the patient with hereditary coproporphyria. 61
8198287 1994
196
Coexistence of hereditary coproporphyria with acute intermittent porphyria. 61
8024730 1994
197
Hereditary coproporphyria. 61
8025000 1994
198
[Porphyrin fluorescence in plasma of various types of porphyria]. 61
7808953 1994
199
Acute hereditary coproporphyria induced by the androgenic/anabolic steroid methandrostenolone (Dianabol). 61
8294588 1994
200
Psychiatric manifestations of hereditary coproporphyria in a child. 61
8308532 1994
201
Propofol and the patient with hereditary coproporphyria. 61
8214681 1993
202
Biochemistry of porphyria. 61
8224350 1993
203
Variable phenotypic expression of genotypic abnormalities in the porphyrias. 61
8222280 1993
204
Clinical utility of fluorometric scanning of plasma porphyrins for the diagnosis and typing of porphyrias. 61
8481987 1993
205
[Acute attacks of hepatic porphyria: specific treatment with heme arginate]. 61
8368699 1993
206
Hereditary coproporphyria: a case report. 61
8228695 1993
207
[Familial Mediterranean fever and electroencephalographic changes. A clinical case]. 61
1589138 1992
208
[Autonomic dysfunction in metabolic diseases]. 61
1619765 1992
209
Effects of erythromycin on gut transit in pseudo-obstruction due to hereditary coproporphyria. 61
1564302 1992
210
Haem arginate in acute hereditary coproporphyria. 61
2053800 1991
211
Normeperidine-induced seizures in hereditary coproporphyria. 61
2237560 1990
212
Anticonvulsant syndrome with multiple symptoms, including porphyria, IgA deficiency, and liver dysfunction. 61
2094745 1990
213
The cutaneous porphyrias. 61
2203445 1990
214
'Hereditary coproporphyria'. 61
2337236 1990
215
Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease). 61
2246853 1990
216
Plasma porphyrins in chronic renal failure. 61
2362629 1990
217
[Diagnosis and therapy of hepatic porphyria]. 61
2092571 1990
218
Acquired immunodeficiency syndrome in a patient affected by hereditary coproporphyria: safety of zidovudine treatment. 61
2297248 1990
219
[A family study of the initial Dutch patients with porphyria]. 61
2601755 1989
220
Respiratory insufficiency associated with acute hepatic porphyria. 61
2635211 1989
221
[Anesthesia and hepatic porphyria]. 61
2660638 1989
222
Accurate and specific HPLC assay of coproporphyrinogen III oxidase activity in human peripheral leucocytes. 61
3233772 1988
223
[Hydroa vacciniforme type eruption disclosing hereditary coproporphyria]. 61
3239925 1988
224
[Clinical medicine of disorders of porphyrin metabolism in man]. 61
3313115 1987
225
[Course of labor and early puerperium in a woman with hereditary coproporphyria]. 61
3428663 1987
226
Induction of anaesthesia with ketamine during an acute crisis of hereditary coproporphyria. 61
3608057 1987
227
Analysis of porphyrins and enzymes in porphyrin synthesis in Taenia solium cysticercus from man and pig. 61
3574346 1987
228
[Hereditary coproporphyria with grand mal epilepsy, glucose-6-phosphate dehydrogenase deficiency and phenobarbital tolerance]. 61
3098698 1986
229
Porphyria cutanea tarda. Diagnosis, management, and differentiation from other hepatic porphyrias. 61
3955900 1986
230
Porphyria: genetic and acquired. 61
3298037 1986
231
[Acute liver porphyria--hereditary coproporphyria diagnosed for the first time in Czechoslovakia]. 61
4049750 1985
232
[Hereditary coproporphyria with hyponatremia complicated by centropontine myelinolysis]. 61
3161034 1985
233
[Hereditary coproporphyria in 2 Dutch families]. 61
6728057 1984
234
[Hereditary coproporphyria. A familial study]. 61
6729195 1984
235
Hereditary coproporphyria: unusual nervous system involvement in two cases. 61
6330313 1984
236
Peripheral nerve findings in hereditary coproporphyria. Light and ultrastructural studies in two sural nerve biopsies. 61
6730920 1984
237
[Porphyria variegata. Apropos of a new familial case]. 61
6308821 1983
238
Hereditary coproporphyria and variegate porphyria in Denmark. 61
6851678 1983
239
[Clinical heterogeneity of hereditary coproporphyria: diagnostic usefulness of biochemical studies. Study of a familial case]. 61
6680417 1983
240
[Progress in dermatology: new biochemical aspects]. 61
6290359 1982
241
Guidelines for drug prescription in patients with the acute porphyrias. 61
6123155 1982
242
[Hereditary coproporphyria (author's transl)]. 61
7075500 1982
243
Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria. 61
6804493 1982
244
The acute attack of porphyria. 61
6120576 1982
245
[Cardiovascular disorders in acute intermittent porphyria (AIP) (author's transl)]. 61
7303704 1981
246
[Hereditary coproporphyria]. 61
7291025 1981
247
Coexistence of hereditary coproporphyria and epilepsy: coproporphyrinogen oxidase deficiency in liver and kidney. 61
6181213 1981
248
[Severe catatonia, schizophrenia and hereditary coproporphyria. A case report (author's transl)]. 61
6255601 1980
249
Hematin therapy in porphyric attacks. 61
7453089 1980
250
Studies of porphyrin synthesis in fibroblasts of patients with congenital erythropoietic porphyria and one patient with homozygous coproporphyria. 61
7417513 1980
251
A plasma porphyrin fluorescence marker for variegate porphyria. 61
7377785 1980
252
Urinary porphyrin excretion in various types of porphyria. Thin-layer chromatographic study. 61
7398995 1980
253
The porphyrias. 61
398301 1979
254
[Diagnosis and differential diagnosis of acute hepatic prophyrias (author's transl)]. 61
117341 1979
255
Studies in porphyria IX: Detection of the gene defect of erythropoietic protoporphyria in mitogen-stimulated human lymphocytes. 61
549253 1979
256
Red-cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria. 61
703786 1978
257
Deficiency of hepatic coproporphyrinogen oxidase in hereditary coproporphyria. 61
712737 1978
258
[Alcohol-induced changes of porphyrin metabolism (author's transl)]. 61
359965 1978
259
Faecal porphyrin excretion in various types of porphyria. Thin layer chromatographic study. 61
718264 1978
260
[Hereditary coproporphyria in the Federal Republic of Germany (author's transl)]. 61
712343 1978
261
[Hereditary coproporphyria: 1st proven homozygous case]. 61
643550 1978
262
Hereditary coproporphyria: demonstration of a genetic defect in coproporphyrinogen metabolism. 61
723897 1978
263
Faecal porphyrin excretion in various types of porphyria. Thin layer chromatographic study. 61
757459 1978
264
Alterations in the activity of enzymes of haem biosynthesis in lead poisoning and acute hepatic prophyria. 61
913057 1977
265
Pregnancy and the acute porphyrias. 61
921907 1977
266
Hepatic porphyrias. Current concepts. 61
329249 1977
267
Hereditary coproporphyria and epilepsy. 61
921312 1977
268
The differentiation of the porphyrias by means of high pressure liquid chromatography. 61
890941 1977
269
Postulated deficiency of hepatic heme and repair by hematin infusions in the "inducible" hepatic porphyrias. 61
266732 1977
270
[Demonstration of hereditary enzyme defect in coproporphyria]. 61
866144 1977
271
Decreased lymphocyte coproporphyrinogen III oxidase activity in hereditary coproporphyria. 61
843348 1977
272
Coproporphyrinogen-oxidase deficiency in hereditary coproporphyria. 61
64669 1977
273
Urinary excretion of 17-oxosteroids in hereditary coproporphyria. 61
1192702 1975
274
[Hereditary coproporphyria. 7 cases]. 61
1196884 1975
275
[Hereditary coproporphyria. Contribution of a case]. 61
1208916 1975
276
[Hereditary coproporphyria]. 61
4782895 1973
277
[9 cases of hepatic coproporphyria (hereditary coproporphyria)]. 61
5458521 1970
278
Activities of delta-aminolevulinic acid synthetase in the liver and bone marrow of hepatic coproporphyria (hereditary coproporphyria). 61
5349574 1969
279
[A new variety of porphyria, mixed or variegate hereditary coproporphyria]. 61
5790137 1969
280
[Hereditary coproporphyria]. 61
5735081 1968
281
Hereditary coproporphyria. 61
5967054 1966
282
[COMBINED HEREDITARY PORPHYRIA HEPATICA (HEREDITARY COPROPORPHYRIA)]. 61
14304817 1965
283
[Urinary elimination of vitamin B2 and porphyrin in a patient of chronic hereditary coproporphyria, with a study of the method of determination of vitamin B2 and porphyrin in urine]. 61
13428381 1957
284
[Severe ariboflavinosis, late rickets and amino diabetes with chronic hereditary coproporphyria]. 61
13262929 1955

Variations for Coproporphyria, Hereditary

ClinVar genetic disease variations for Coproporphyria, Hereditary:

6 (showing 67, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CPOX NM_000097.7(CPOX):c.122_126GCAGC[3] (p.Gly45fs)short repeat Pathogenic 454 rs786205053 3:98312217-98312218 3:98593373-98593374
2 CPOX NM_000097.7(CPOX):c.489_509del (p.Cys164_Val170del)deletion Pathogenic 455 rs786205054 3:98311840-98311860 3:98592996-98593016
3 CPOX NM_000097.7(CPOX):c.883C>G (p.His295Asp)SNV Pathogenic 456 rs121917870 3:98307627-98307627 3:98588783-98588783
4 CPOX NM_000097.7(CPOX):c.1277+3A>GSNV Pathogenic 457 rs370245685 3:98300248-98300248 3:98581404-98581404
5 CPOX NM_000097.7(CPOX):c.85C>T (p.Gln29Ter)SNV Pathogenic 458 rs121917871 3:98312264-98312264 3:98593420-98593420
6 CPOX NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys)SNV Pathogenic 459 rs28931603 3:98299553-98299553 3:98580709-98580709
7 CPOX NM_000097.7(CPOX):c.623C>T (p.Ser208Phe)SNV Pathogenic 460 rs121917872 3:98309933-98309933 3:98591089-98591089
8 CPOX NM_000097.7(CPOX):c.982C>T (p.Arg328Cys)SNV Pathogenic 461 rs121917873 3:98304475-98304475 3:98585631-98585631
9 CPOX NM_000097.7(CPOX):c.856dup (p.Thr286fs)duplication Pathogenic 462 rs1559677768 3:98307653-98307654 3:98588809-98588810
10 CPOX NM_000097.7(CPOX):c.980A>G (p.His327Arg)SNV Pathogenic 126445 rs587777271 3:98304477-98304477 3:98585633-98585633
11 CPOX NM_000097.7(CPOX):c.991C>T (p.Arg331Trp)SNV Pathogenic 451 rs121917866 3:98304466-98304466 3:98585622-98585622
12 CPOX CPOX, IVS6, G-A, -1SNV Pathogenic 452
13 CPOX NM_000097.7(CPOX):c.478C>T (p.Gln160Ter)SNV Pathogenic 801990 3:98311871-98311871 3:98593027-98593027
14 CPOX NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu)SNV Likely pathogenic 453 rs121917868 3:98300318-98300318 3:98581474-98581474
15 CPOX NM_000097.7(CPOX):c.395C>T (p.Ala132Val)SNV Conflicting interpretations of pathogenicity 346984 rs147219463 3:98311954-98311954 3:98593110-98593110
16 CPOX NM_000097.7(CPOX):c.651A>G (p.Glu217=)SNV Conflicting interpretations of pathogenicity 346980 rs138479596 3:98309905-98309905 3:98591061-98591061
17 CPOX NM_000097.7(CPOX):c.1108A>G (p.Lys370Glu)SNV Uncertain significance 346975 rs778583962 3:98304349-98304349 3:98585505-98585505
18 CPOX NM_000097.7(CPOX):c.*194G>TSNV Uncertain significance 346966 rs886058946 3:98299333-98299333 3:98580489-98580489
19 CPOX NM_000097.7(CPOX):c.130G>T (p.Ala44Ser)SNV Uncertain significance 346993 rs886058950 3:98312219-98312219 3:98593375-98593375
20 CPOX NM_000097.7(CPOX):c.*66G>ASNV Uncertain significance 346971 rs886058947 3:98299461-98299461 3:98580617-98580617
21 CPOX NM_000097.7(CPOX):c.*1174G>ASNV Uncertain significance 346949 rs886058940 3:98298353-98298353 3:98579509-98579509
22 CPOX NM_000097.7(CPOX):c.*1076G>ASNV Uncertain significance 346952 rs775384142 3:98298451-98298451 3:98579607-98579607
23 CPOX NM_000097.7(CPOX):c.*498_*499insCAinsertion Uncertain significance 346960 rs886058944 3:98299028-98299029 3:98580184-98580185
24 CPOX NM_000097.7(CPOX):c.*340A>GSNV Uncertain significance 346963 rs886058945 3:98299187-98299187 3:98580343-98580343
25 CPOX NM_000097.7(CPOX):c.487G>T (p.Val163Leu)SNV Uncertain significance 346983 rs535432218 3:98311862-98311862 3:98593018-98593018
26 CPOX NM_000097.7(CPOX):c.348G>C (p.Pro116=)SNV Uncertain significance 346985 rs140566686 3:98312001-98312001 3:98593157-98593157
27 CPOX NM_000097.7(CPOX):c.156C>G (p.Gly52=)SNV Uncertain significance 346992 rs886058949 3:98312193-98312193 3:98593349-98593349
28 CPOX NM_000097.7(CPOX):c.125G>C (p.Ser42Thr)SNV Uncertain significance 346994 rs886058951 3:98312224-98312224 3:98593380-98593380
29 CPOX NM_000097.7(CPOX):c.167C>T (p.Thr56Met)SNV Uncertain significance 346990 rs886058948 3:98312182-98312182 3:98593338-98593338
30 CPOX NM_000097.7(CPOX):c.86A>C (p.Gln29Pro)SNV Uncertain significance 346995 rs886058952 3:98312263-98312263 3:98593419-98593419
31 CPOX NM_000097.7(CPOX):c.-10G>ASNV Uncertain significance 346997 rs867711777 3:98312358-98312358 3:98593514-98593514
32 CPOX NM_000097.7(CPOX):c.-43G>CSNV Uncertain significance 346998 rs763595872 3:98312391-98312391 3:98593547-98593547
33 CPOX NM_000097.7(CPOX):c.*633A>CSNV Uncertain significance 346957 rs886058942 3:98298894-98298894 3:98580050-98580050
34 CPOX NM_000097.7(CPOX):c.*506C>TSNV Uncertain significance 346959 rs886058943 3:98299021-98299021 3:98580177-98580177
35 CPOX NM_000097.7(CPOX):c.299A>T (p.Glu100Val)SNV Uncertain significance 346987 rs367822877 3:98312050-98312050 3:98593206-98593206
36 CPOX NM_000097.7(CPOX):c.*1153G>CSNV Uncertain significance 346950 rs886058941 3:98298374-98298374 3:98579530-98579530
37 CPOX NM_000097.7(CPOX):c.*73T>CSNV Likely benign 346970 rs139447447 3:98299454-98299454 3:98580610-98580610
38 CPOX NM_000097.7(CPOX):c.*136G>CSNV Likely benign 346968 rs142440038 3:98299391-98299391 3:98580547-98580547
39 CPOX NM_000097.7(CPOX):c.1172+14A>GSNV Likely benign 346974 rs16839985 3:98304271-98304271 3:98585427-98585427
40 CPOX NM_000097.7(CPOX):c.*381C>TSNV Likely benign 346962 rs141236816 3:98299146-98299146 3:98580302-98580302
41 CPOX NM_000097.7(CPOX):c.*95G>ASNV Likely benign 346969 rs2229123 3:98299432-98299432 3:98580588-98580588
42 CPOX NM_000097.7(CPOX):c.*28deldeletion Likely benign 346972 rs144234554 3:98299499-98299499 3:98580655-98580655
43 CPOX NM_000097.7(CPOX):c.1266T>A (p.Pro422=)SNV Likely benign 346973 rs563304155 3:98300262-98300262 3:98581418-98581418
44 CPOX NM_000097.7(CPOX):c.-55G>CSNV Likely benign 347000 rs115030377 3:98312403-98312403 3:98593559-98593559
45 CPOX NM_000097.7(CPOX):c.*939A>GSNV Likely benign 346954 rs539237301 3:98298588-98298588 3:98579744-98579744
46 CPOX NM_000097.7(CPOX):c.*1072C>TSNV Likely benign 346953 rs148251059 3:98298455-98298455 3:98579611-98579611
47 CPOX NM_000097.7(CPOX):c.-54C>TSNV Likely benign 346999 rs75986763 3:98312402-98312402 3:98593558-98593558
48 CPOX NM_000097.7(CPOX):c.*227G>ASNV Likely benign 346965 rs146214523 3:98299300-98299300 3:98580456-98580456
49 CPOX NM_000097.7(CPOX):c.612G>A (p.Gly204=)SNV Likely benign 346981 rs149384011 3:98309944-98309944 3:98591100-98591100
50 CPOX NM_000097.7(CPOX):c.*1105A>GSNV Likely benign 346951 rs73133922 3:98298422-98298422 3:98579578-98579578
51 CPOX NM_000097.7(CPOX):c.-56G>CSNV Likely benign 347001 rs184287214 3:98312404-98312404 3:98593560-98593560
52 CPOX NM_000097.7(CPOX):c.165C>T (p.Gly55=)SNV Benign/Likely benign 346991 rs563975822 3:98312184-98312184 3:98593340-98593340
53 CPOX NM_000097.7(CPOX):c.556+9G>ASNV Benign/Likely benign 346982 rs184983281 3:98311784-98311784 3:98592940-98592940
54 CPOX NM_000097.7(CPOX):c.337C>T (p.Leu113=)SNV Benign/Likely benign 346986 rs146543713 3:98312012-98312012 3:98593168-98593168
55 CPOX NM_000097.7(CPOX):c.284A>G (p.His95Arg)SNV Benign/Likely benign 346988 rs192332456 3:98312065-98312065 3:98593221-98593221
56 CPOX NM_000097.7(CPOX):c.252G>A (p.Gly84=)SNV Benign/Likely benign 346989 rs376917019 3:98312097-98312097 3:98593253-98593253
57 CPOX NM_000097.7(CPOX):c.880G>A (p.Val294Ile)SNV Benign 346978 rs2228056 3:98307630-98307630 3:98588786-98588786
58 CPOX NM_000097.7(CPOX):c.*329G>CSNV Benign 346964 rs72924727 3:98299198-98299198 3:98580354-98580354
59 CPOX NM_000097.7(CPOX):c.1054C>T (p.Arg352Cys)SNV Benign 346976 rs11921054 3:98304403-98304403 3:98585559-98585559
60 CPOX NM_000097.7(CPOX):c.*578_*579insTTCTTAinsertion Benign 346958 rs3840202 3:98298948-98298949 3:98580104-98580105
61 CPOX NM_000097.7(CPOX):c.*475T>ASNV Benign 346961 rs72924726 3:98299052-98299052 3:98580208-98580208
62 CPOX NM_000097.7(CPOX):c.*927G>ASNV Benign 346955 rs7103 3:98298600-98298600 3:98579756-98579756
63 CPOX NM_000097.7(CPOX):c.*679G>ASNV Benign 346956 rs72924722 3:98298848-98298848 3:98580004-98580004
64 CPOX NM_000097.7(CPOX):c.33C>T (p.Gly11=)SNV Benign 346996 rs60690253 3:98312316-98312316 3:98593472-98593472
65 CPOX NM_000097.7(CPOX):c.990A>G (p.Glu330=)SNV Benign 346977 rs1729995 3:98304467-98304467 3:98585623-98585623
66 CPOX NM_000097.7(CPOX):c.*162A>CSNV Benign 346967 rs1051712 3:98299365-98299365 3:98580521-98580521
67 CPOX NM_000097.7(CPOX):c.814A>C (p.Asn272His)SNV Benign 346979 rs1131857 3:98307696-98307696 3:98588852-98588852

UniProtKB/Swiss-Prot genetic disease variations for Coproporphyria, Hereditary:

73 (showing 16, show less)
# Symbol AA change Variation ID SNP ID
1 CPOX p.Gly189Ser VAR_002152 rs759347283
2 CPOX p.Gly197Trp VAR_002153
3 CPOX p.Glu201Lys VAR_002154 rs137439480
4 CPOX p.Pro249Ser VAR_002155
5 CPOX p.Gly280Arg VAR_002157
6 CPOX p.His295Asp VAR_002159 rs121917870
7 CPOX p.Arg331Trp VAR_002160 rs121917866
8 CPOX p.Lys404Glu VAR_002162 rs121917868
9 CPOX p.Trp427Arg VAR_002163
10 CPOX p.Ser208Phe VAR_019067 rs121917872
11 CPOX p.Arg328Cys VAR_019068 rs121917873
12 CPOX p.Arg447Cys VAR_019069 rs28931603
13 CPOX p.Val135Ala VAR_023444 rs201826432
14 CPOX p.Leu214Arg VAR_023445
15 CPOX p.Pro249Arg VAR_023446
16 CPOX p.Gly279Arg VAR_058005 rs121917874

Expression for Coproporphyria, Hereditary

Search GEO for disease gene expression data for Coproporphyria, Hereditary.

Pathways for Coproporphyria, Hereditary

GO Terms for Coproporphyria, Hereditary

Cellular components related to Coproporphyria, Hereditary according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.26 PPOX FECH CPOX ALAS2
2 mitochondrion GO:0005739 9.17 UROS PPOX FLVCR1 FECH CPOX ALAS2

Biological processes related to Coproporphyria, Hereditary according to GeneCards Suite gene sharing:

(showing 16, show less)
# Name GO ID Score Top Affiliating Genes
1 porphyrin-containing compound biosynthetic process GO:0006779 9.7 UROS UROD PPOX HMBS FECH CPOX
2 tetrapyrrole biosynthetic process GO:0033014 9.65 UROS HMBS ALAS2 ALAS1 ALAD
3 response to lead ion GO:0010288 9.61 FECH CPOX ALAD
4 response to arsenic-containing substance GO:0046685 9.58 FECH CPOX ALAD
5 cellular iron ion homeostasis GO:0006879 9.56 FLVCR1 ALAS2
6 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 UROS UROD PPOX HMBS CPOX ALAS2
7 erythrocyte differentiation GO:0030218 9.55 FLVCR1 ALAS2
8 biosynthetic process GO:0009058 9.54 ALAS2 ALAS1
9 response to methylmercury GO:0051597 9.54 FECH CPOX ALAD
10 response to iron ion GO:0010039 9.52 CPOX ALAD
11 response to inorganic substance GO:0010035 9.51 CPOX ALAD
12 response to platinum ion GO:0070541 9.5 UROS FECH ALAD
13 response to insecticide GO:0017085 9.49 FECH CPOX
14 porphyrin-containing compound metabolic process GO:0006778 9.48 ALAS2 ALAS1
15 protoporphyrinogen IX metabolic process GO:0046501 9.46 PPOX FECH
16 heme biosynthetic process GO:0006783 9.28 UROS UROD PPOX HMBS FECH CPOX

Molecular functions related to Coproporphyria, Hereditary according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.26 UROS UROD FECH ALAD
2 pyridoxal phosphate binding GO:0030170 9.16 ALAS2 ALAS1
3 5-aminolevulinate synthase activity GO:0003870 8.62 ALAS2 ALAS1

Sources for Coproporphyria, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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