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 58 45 41
Hereditary Coproporphyria 12 77 25 54 60 76 30 6 15 74
Coproporphyria 58 77 54 30 13 56 6 74
Coproporphyrinogen Oxidase Deficiency 58 12 54 76
Harderoporphyria 58 6 74
Cpo Deficiency 58 54 76
Hcp 58 54 76
Hereditary Coproporphyria Porphyria 12 54
Coproporphyria Hereditary 54 56
Cpox Deficiency 58 76
Cpro Deficiency 54 76
Cpx Deficiency 58 54
Porphyria, Hereditary Coproporphyria 77
Porphyria Hepatica Coproporphyria 54
Coproporphyrinogen Oxidase 13
Porphyria Hepatica Ii 54

Characteristics:

Orphanet epidemiological data:

60
hereditary coproporphyria
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
coproporphyria, hereditary:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


GeneReviews:

25
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:



Summaries for Coproporphyria, Hereditary

NIH Rare Diseases : 54 Hereditary coproporphyria (HCP) is form of liver (hepatic) porphyria characterized by "neurovisceral" attacks that lead to abdominal pain, and 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. The episodes or attacks that occur in HCP usually develop over the course of several hours or a few days (acute) and usually begin to occur around 20-30 years of age. Signs and symptoms present during the attacks may include body pain, nausea and vomiting, a faster than irregular heartbeats (arrhythmia), high blood pressure, 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. Treatment is dependent on the symptoms. An acute attack requires hospitalization and treatment with hematin (heme compound).

MalaCards based summary : Coproporphyria, Hereditary, also known as hereditary coproporphyria, is related to porphyria, acute intermittent and porphyria. 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 Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and testes, and related phenotypes are depressivity and nausea and vomiting

OMIM : 58 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 : 76 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 : 77 Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic... more...

GeneReviews: NBK114807

Related Diseases for Coproporphyria, Hereditary

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:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000716
2 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
3 abdominal pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002027
4 irritability 60 33 hallmark (90%) Very frequent (99-80%) HP:0000737
5 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
6 anxiety 60 33 hallmark (90%) Very frequent (99-80%) HP:0000739
7 myalgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003326
8 confusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0001289
9 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
10 abnormal blistering of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0008066
11 cutaneous photosensitivity 60 33 frequent (33%) Frequent (79-30%) HP:0000992
12 hypermelanotic macule 60 33 frequent (33%) Frequent (79-30%) HP:0001034
13 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
14 arthralgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002829
15 hyponatremia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002902
16 respiratory paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002203
17 tachycardia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001649
18 visual hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0002367
19 hypertrichosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000998
20 auditory hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0008765
21 hypertension 33 HP:0000822
22 behavioral abnormality 60 Very frequent (99-80%)
23 hallucinations 33 HP:0000738
24 splenomegaly 33 HP:0001744
25 hepatomegaly 33 HP:0002240
26 vomiting 33 HP:0002013
27 abnormality of metabolism/homeostasis 33 HP:0001939
28 peripheral neuropathy 33 HP:0009830
29 jaundice 33 HP:0000952
30 paranoia 33 HP:0011999
31 diarrhea 33 HP:0002014
32 insomnia 33 HP:0100785
33 acute episodes of neuropathic symptoms 33 HP:0003489
34 congenital hemolytic anemia 33 HP:0004804

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 ALAS2 CPOX FECH GATA1 HMBS LIG3
2 mortality/aging MP:0010768 9.32 ALAS1 ALAS2 CPOX FECH GATA1 HMBS

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
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
3
Losartan Approved Phase 1 114798-26-4 3961
4
Guaifenesin Approved, Investigational, Vet_approved Phase 1 93-14-1 3516
5
Caffeine Approved Phase 1 58-08-2 2519
6
Dextromethorphan Approved Phase 1 125-71-3 5362449 5360696
7 Excitatory Amino Acid Antagonists Phase 1
8 Anti-Ulcer Agents Phase 1
9 Neurotransmitter Agents Phase 1
10 Antitussive Agents Phase 1
11 Respiratory System Agents Phase 1
12 Antacids Phase 1
13 Chlorpheniramine, phenylpropanolamine drug combination Phase 1
14 Gastrointestinal Agents Phase 1
15 Proton Pump Inhibitors Phase 1
16 Excitatory Amino Acids Phase 1
17
Aminolevulinic acid Approved 106-60-5 137

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP) Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
2 Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
3 A Study to Investigate the Interaction Between Givosiran and a 5-probe Drug Cocktail in Patients With Acute Intermittent Porphyria (AIP) Completed NCT03505853 Phase 1 Givosiran;5-probe cocktail
4 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
5 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
6 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin
7 Clinical Diagnosis of Acute Porphyria Completed NCT01568554
8 Longitudinal Study of the Porphyrias Recruiting NCT01561157

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 30 CPOX
2 Coproporphyria 30

Anatomical Context for Coproporphyria, Hereditary

MalaCards organs/tissues related to Coproporphyria, Hereditary:

42
Skin, Liver, Testes, Kidney, Bone, Bone Marrow

Publications for Coproporphyria, Hereditary

Articles related to Coproporphyria, Hereditary:

(show top 50) (show all 93)
# Title Authors Year
1
A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp). ( 29660996 )
2018
2
A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen. ( 28600349 )
2017
3
Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria. ( 28349448 )
2017
4
A case of hereditary coproporphyria precipitated by efavirenz. ( 27465283 )
2016
5
Cerebral Hypoperfusion in Hereditary Coproporphyria (HCP): a Single Photon Emission Computed Tomography (SPECT) study. ( 26680773 )
2015
6
Liver Failure after Hydroxycuta8c Use in a Patient with Undiagnosed Hereditary Coproporphyria. ( 25666208 )
2015
7
Lamotrigine in the treatment of psychotic depression associated with hereditary coproporphyria -- case report and a brief review of the literature. ( 24687017 )
2014
8
Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing. ( 23582006 )
2013
9
Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia. ( 24156084 )
2013
10
Neuropathic pain in hereditary coproporphyria. ( 24353603 )
2013
11
The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria. ( 24078084 )
2013
12
Kidney transplantation in hereditary coproporphyria using tacrolimus and mycophenolate mofetil: a case report. ( 24315002 )
2013
13
Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria. ( 21231929 )
2012
14
Haem arginate as effective maintenance therapy for hereditary coproporphyria. ( 21605099 )
2011
15
Acute exacerbation of hereditary coproporphyria mimics early surgical infection following intrathecal pump implantation for chronic abdominal pain: A case report. ( 21992886 )
2010
16
Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation. ( 18557518 )
2008
17
Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain. ( 15896662 )
2005
18
Hereditary coproporphyria: case report of an acute crisis. ( 16010787 )
2005
19
Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria. ( 16159891 )
2005
20
Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family. ( 16151909 )
2005
21
Structural basis of hereditary coproporphyria. ( 16176984 )
2005
22
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. ( 15384152 )
2004
23
Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria. ( 11929047 )
2002
24
[Coexistence of hereditary coproporphyria and porphyria cutanea tarda: a new form of dual porphyria]. ( 11831056 )
2002
25
A molecular, enzymatic and clinical study in a family with hereditary coproporphyria. ( 12227458 )
2002
26
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. ( 12181641 )
2002
27
Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism. ( 11739202 )
2001
28
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria. ( 11309681 )
2001
29
DGGE analysis of the coproporphyrinogen oxidase gene: two new mutations in DNA from Danish patients with hereditary coproporphyria. ( 11202054 )
2000
30
Uneventful propofol anesthesia in a patient with coexisting hereditary coproporphyria and hereditary angioneurotic edema. ( 10691250 )
2000
31
Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients. ( 11074238 )
2000
32
Prevention of premenstrual exacerbation of hereditary coproporphyria by gonadotropin-releasing hormone analogue. ( 10361911 )
1999
33
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. ( 9888388 )
1999
34
Compound heterozygous hereditary coproporphyria with fluorescing teeth. ( 10505225 )
1999
35
Use of olanzapine in hereditary coproporphyria. ( 10479951 )
1999
36
Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family. ( 9843038 )
1998
37
Hereditary coproporphyria. ( 9516675 )
1998
38
Molecular defects of the coproporphyrinogen oxidase gene in hereditary coproporphyria. ( 9074789 )
1997
39
Occurrence of hepatocellular carcinoma in a case of hereditary coproporphyria. ( 9260820 )
1997
40
Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene. ( 9298818 )
1997
41
A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria. ( 9048920 )
1997
42
Family study of acute intermittent porphyria and hereditary coproporphyria in Niigata and Akita Prefectures, Japan. ( 8826991 )
1996
43
Safety of isoflurane and epidural anesthesia in a patient with hereditary coproporphyria. ( 23839560 )
1996
44
Relation between uroporphyrin excretion, acute attacks of hereditary coproporphyria and successful treatment with haem arginate. ( 7736708 )
1995
45
Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria. ( 7592568 )
1995
46
A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. ( 7757079 )
1995
47
Acute hereditary coproporphyria induced by the androgenic/anabolic steroid methandrostenolone (Dianabol). ( 8294588 )
1994
48
Hereditary coproporphyria. ( 8025000 )
1994
49
Propofol and the patient with hereditary coproporphyria. ( 8198287 )
1994
50
Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria. ( 7849704 )
1994

Variations for Coproporphyria, Hereditary

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

76 (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

ClinVar genetic disease variations for Coproporphyria, Hereditary:

6 (show top 50) (show all 131)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPOX NM_000097.5(CPOX): c.991C> T (p.Arg331Trp) single nucleotide variant Pathogenic rs121917866 GRCh37 Chromosome 3, 98304466: 98304466
2 CPOX NM_000097.5(CPOX): c.991C> T (p.Arg331Trp) single nucleotide variant Pathogenic rs121917866 GRCh38 Chromosome 3, 98585622: 98585622
3 CPOX CPOX, IVS6, G-A, -1 single nucleotide variant Pathogenic
4 CPOX NM_000097.5(CPOX): c.1210A> G (p.Lys404Glu) single nucleotide variant Likely pathogenic rs121917868 GRCh37 Chromosome 3, 98300318: 98300318
5 CPOX NM_000097.5(CPOX): c.1210A> G (p.Lys404Glu) single nucleotide variant Likely pathogenic rs121917868 GRCh38 Chromosome 3, 98581474: 98581474
6 CPOX NM_000097.7(CPOX): c.127_131dup (p.Gly45Glnfs) duplication Pathogenic rs786205053 GRCh37 Chromosome 3, 98312218: 98312222
7 CPOX NM_000097.7(CPOX): c.127_131dup (p.Gly45Glnfs) duplication Pathogenic rs786205053 GRCh38 Chromosome 3, 98593374: 98593378
8 CPOX NM_000097.5(CPOX): c.489_509del21 (p.Cys164_Val170del) deletion Pathogenic rs786205054 GRCh37 Chromosome 3, 98311840: 98311860
9 CPOX NM_000097.5(CPOX): c.489_509del21 (p.Cys164_Val170del) deletion Pathogenic rs786205054 GRCh38 Chromosome 3, 98592996: 98593016
10 CPOX NM_000097.5(CPOX): c.883C> G (p.His295Asp) single nucleotide variant Pathogenic rs121917870 GRCh37 Chromosome 3, 98307627: 98307627
11 CPOX NM_000097.5(CPOX): c.883C> G (p.His295Asp) single nucleotide variant Pathogenic rs121917870 GRCh38 Chromosome 3, 98588783: 98588783
12 CPOX NM_000097.7(CPOX): c.1277+3A> G single nucleotide variant Pathogenic GRCh37 Chromosome 3, 98300248: 98300248
13 CPOX NM_000097.7(CPOX): c.1277+3A> G single nucleotide variant Pathogenic GRCh38 Chromosome 3, 98581404: 98581404
14 CPOX NM_000097.5(CPOX): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs121917871 GRCh37 Chromosome 3, 98312264: 98312264
15 CPOX NM_000097.5(CPOX): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs121917871 GRCh38 Chromosome 3, 98593420: 98593420
16 CPOX NM_000097.5(CPOX): c.1339C> T (p.Arg447Cys) single nucleotide variant Pathogenic rs28931603 GRCh37 Chromosome 3, 98299553: 98299553
17 CPOX NM_000097.5(CPOX): c.1339C> T (p.Arg447Cys) single nucleotide variant Pathogenic rs28931603 GRCh38 Chromosome 3, 98580709: 98580709
18 CPOX NM_000097.5(CPOX): c.623C> T (p.Ser208Phe) single nucleotide variant Pathogenic rs121917872 GRCh37 Chromosome 3, 98309933: 98309933
19 CPOX NM_000097.5(CPOX): c.623C> T (p.Ser208Phe) single nucleotide variant Pathogenic rs121917872 GRCh38 Chromosome 3, 98591089: 98591089
20 CPOX NM_000097.5(CPOX): c.982C> T (p.Arg328Cys) single nucleotide variant Pathogenic rs121917873 GRCh37 Chromosome 3, 98304475: 98304475
21 CPOX NM_000097.5(CPOX): c.982C> T (p.Arg328Cys) single nucleotide variant Pathogenic rs121917873 GRCh38 Chromosome 3, 98585631: 98585631
22 CPOX NM_000097.7(CPOX): c.856dup (p.Thr286Asnfs) duplication Pathogenic GRCh37 Chromosome 3, 98307654: 98307654
23 CPOX NM_000097.7(CPOX): c.856dup (p.Thr286Asnfs) duplication Pathogenic GRCh38 Chromosome 3, 98588810: 98588810
24 CPOX NM_000097.5(CPOX): c.980A> G (p.His327Arg) single nucleotide variant Pathogenic rs587777271 GRCh37 Chromosome 3, 98304477: 98304477
25 CPOX NM_000097.5(CPOX): c.980A> G (p.His327Arg) single nucleotide variant Pathogenic rs587777271 GRCh38 Chromosome 3, 98585633: 98585633
26 CPOX NM_000097.5(CPOX): c.*1072C> T single nucleotide variant Likely benign rs148251059 GRCh38 Chromosome 3, 98579611: 98579611
27 CPOX NM_000097.5(CPOX): c.*1072C> T single nucleotide variant Likely benign rs148251059 GRCh37 Chromosome 3, 98298455: 98298455
28 CPOX NM_000097.5(CPOX): c.*475T> A single nucleotide variant Benign rs72924726 GRCh38 Chromosome 3, 98580208: 98580208
29 CPOX NM_000097.5(CPOX): c.*475T> A single nucleotide variant Benign rs72924726 GRCh37 Chromosome 3, 98299052: 98299052
30 CPOX NM_000097.5(CPOX): c.*381C> T single nucleotide variant Likely benign rs141236816 GRCh38 Chromosome 3, 98580302: 98580302
31 CPOX NM_000097.5(CPOX): c.*381C> T single nucleotide variant Likely benign rs141236816 GRCh37 Chromosome 3, 98299146: 98299146
32 CPOX NM_000097.5(CPOX): c.*95G> A single nucleotide variant Likely benign rs2229123 GRCh38 Chromosome 3, 98580588: 98580588
33 CPOX NM_000097.5(CPOX): c.*95G> A single nucleotide variant Likely benign rs2229123 GRCh37 Chromosome 3, 98299432: 98299432
34 CPOX NM_000097.5(CPOX): c.*28delT deletion Likely benign rs144234554 GRCh38 Chromosome 3, 98580655: 98580655
35 CPOX NM_000097.5(CPOX): c.*28delT deletion Likely benign rs144234554 GRCh37 Chromosome 3, 98299499: 98299499
36 CPOX NM_000097.5(CPOX): c.1266T> A (p.Pro422=) single nucleotide variant Likely benign rs563304155 GRCh38 Chromosome 3, 98581418: 98581418
37 CPOX NM_000097.5(CPOX): c.1266T> A (p.Pro422=) single nucleotide variant Likely benign rs563304155 GRCh37 Chromosome 3, 98300262: 98300262
38 CPOX NM_000097.5(CPOX): c.1054C> T (p.Arg352Cys) single nucleotide variant Benign rs11921054 GRCh38 Chromosome 3, 98585559: 98585559
39 CPOX NM_000097.5(CPOX): c.1054C> T (p.Arg352Cys) single nucleotide variant Benign rs11921054 GRCh37 Chromosome 3, 98304403: 98304403
40 CPOX NM_000097.5(CPOX): c.395C> T (p.Ala132Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147219463 GRCh38 Chromosome 3, 98593110: 98593110
41 CPOX NM_000097.5(CPOX): c.395C> T (p.Ala132Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147219463 GRCh37 Chromosome 3, 98311954: 98311954
42 CPOX NM_000097.5(CPOX): c.167C> T (p.Thr56Met) single nucleotide variant Uncertain significance rs886058948 GRCh38 Chromosome 3, 98593338: 98593338
43 CPOX NM_000097.5(CPOX): c.167C> T (p.Thr56Met) single nucleotide variant Uncertain significance rs886058948 GRCh37 Chromosome 3, 98312182: 98312182
44 CPOX NM_000097.5(CPOX): c.86A> C (p.Gln29Pro) single nucleotide variant Uncertain significance rs886058952 GRCh38 Chromosome 3, 98593419: 98593419
45 CPOX NM_000097.5(CPOX): c.86A> C (p.Gln29Pro) single nucleotide variant Uncertain significance rs886058952 GRCh37 Chromosome 3, 98312263: 98312263
46 CPOX NM_000097.5(CPOX): c.-10G> A single nucleotide variant Uncertain significance rs867711777 GRCh38 Chromosome 3, 98593514: 98593514
47 CPOX NM_000097.5(CPOX): c.-10G> A single nucleotide variant Uncertain significance rs867711777 GRCh37 Chromosome 3, 98312358: 98312358
48 CPOX NM_000097.5(CPOX): c.-43G> C single nucleotide variant Uncertain significance rs763595872 GRCh38 Chromosome 3, 98593547: 98593547
49 CPOX NM_000097.5(CPOX): c.-43G> C single nucleotide variant Uncertain significance rs763595872 GRCh37 Chromosome 3, 98312391: 98312391
50 CPOX NM_000097.5(CPOX): c.-55G> C single nucleotide variant Likely benign rs115030377 GRCh38 Chromosome 3, 98593559: 98593559

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 mitochondrion GO:0005739 9.17 ALAS1 ALAS2 CPOX FECH LIG3 PPOX

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 heme biosynthetic process GO:0006783 9.81 ALAD ALAS1 ALAS2 CPOX FECH HMBS
2 tetrapyrrole biosynthetic process GO:0033014 9.65 ALAD ALAS1 ALAS2 HMBS UROS
3 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 ALAD ALAS1 ALAS2 CPOX HMBS PPOX
4 erythrocyte differentiation GO:0030218 9.52 ALAS2 GATA1
5 biosynthetic process GO:0009058 9.51 ALAS1 ALAS2
6 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
7 response to lead ion GO:0010288 9.49 ALAD FECH
8 response to metal ion GO:0010038 9.48 ALAD FECH
9 response to arsenic-containing substance GO:0046685 9.46 ALAD FECH
10 response to methylmercury GO:0051597 9.43 ALAD FECH
11 porphyrin-containing compound metabolic process GO:0006778 9.4 ALAS1 ALAS2
12 protoporphyrinogen IX metabolic process GO:0046501 9.37 FECH PPOX
13 porphyrin-containing compound biosynthetic process GO:0006779 9.17 ALAD CPOX FECH HMBS PPOX UROD

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 ALAD FECH UROD UROS
2 pyridoxal phosphate binding GO:0030170 9.16 ALAS1 ALAS2
3 5-aminolevulinate synthase activity GO:0003870 8.62 ALAS1 ALAS2

Sources for Coproporphyria, Hereditary

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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34 ICD10
35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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