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:

(show top 50) (show all 69)
# 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

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 (show all 34)
# 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
# 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):

(show all 17)
# 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:


# 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:

(show top 50) (show all 284)
# 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

Variations for Coproporphyria, Hereditary

ClinVar genetic disease variations for Coproporphyria, Hereditary:

6 (show top 50) (show all 67) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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

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

73 (show all 16)
# 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:

# 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:

(show all 16)
# 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:

# 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
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50 NDF-RT
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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