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Hereditary coproporphyria(HCP)

MedGen UID:
57931
Concept ID:
C0162531
Disease or Syndrome
Synonyms: Coproporphyrinogen oxidase deficiency; CPO deficiency; CPOX DEFICIENCY; CPRO deficiency; CPX deficiency; HCP; Hereditary coproporphyria porphyria; Porphyria hepatica coproporphyria; Porphyria hepatica II
SNOMED CT: Hereditary coproporphyria (7425008); Berger-Goldberg syndrome (7425008); CPO deficiency (7425008); CPRO deficiency (7425008); Porphyria hepatica II (7425008); HCP - Hereditary coproporphyria (7425008); Coproporphyrinogen oxidase deficiency (7425008); CPO - Coproporphyrinogen oxidase deficiency (7425008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): CPOX (3q11.2)
 
Monarch Initiative: MONDO:0007369
OMIM®: 121300
Orphanet: ORPHA79273

Disease characteristics

Excerpted from the GeneReview: Hereditary Coproporphyria
Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. Attacks typically start in the abdomen with low-grade pain that slowly increases over a period of days (not hours) with nausea progressing to vomiting. In some individuals, the pain is predominantly in the back or extremities. When an acute attack is untreated, a motor neuropathy may develop over a period of days or a few weeks. The neuropathy first appears as weakness proximally in the arms and legs, then progresses distally to involve the hands and feet. Some individuals experience respiratory insufficiency due to loss of innervation of the diaphragm and muscles of respiration. Acute attacks are associated commonly with use of certain medications, caloric deprivation, and changes in female reproductive hormones. About 20% of those with an acute attack also experience photosensitivity associated with bullae and skin fragility. [from GeneReviews]
Authors:
Bruce Wang  |  D Montgomery Bissell   view full author information

Additional descriptions

From OMIM
Hereditary coproporphyria (HCP), 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 (review by Schmitt et al., 2005).  http://www.omim.org/entry/121300
From MedlinePlus Genetics
Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).

The porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins and porphyrin precursors first build up in the body. In erythropoietic porphyrias, these compounds originate in the bone marrow. Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria. Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen (splenomegaly). The other types of porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and porphyrin precursors originate primarily in the liver, leading to abnormal liver function and an increased risk of developing liver cancer.

Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda.

Other types of porphyria, called acute porphyrias, primarily affect the nervous system. These disorders are described as "acute" because their signs and symptoms appear quickly and usually last a short time. Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations. These signs and symptoms can be life-threatening, especially if the muscles that control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, can have both acute and cutaneous symptoms.

Environmental factors can strongly influence the occurrence and severity of signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous porphyrias.  https://medlineplus.gov/genetics/condition/porphyria

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Elevated urinary delta-aminolevulinic acid
MedGen UID:
341286
Concept ID:
C1848702
Finding
An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.
Increased urinary porphobilinogen
MedGen UID:
868601
Concept ID:
C4023000
Finding
The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal.
Elevated urinary coproporphyrin level
MedGen UID:
1054678
Concept ID:
CN377368
Finding
The amount of a coproporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of feces.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Increased fecal coproporphyrin 3
MedGen UID:
1711423
Concept ID:
C5397996
Finding
Abnormally high concentration of coproporphyrin 3 in feces
Increased fecal coproporphyrin III:coproporphyrin I ratio
MedGen UID:
1841725
Concept ID:
C5826417
Finding
Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Confusion
MedGen UID:
3587
Concept ID:
C0009676
Mental or Behavioral Dysfunction
Lack of clarity and coherence of thought, perception, understanding, or action.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Hallucinations
MedGen UID:
6709
Concept ID:
C0018524
Mental or Behavioral Dysfunction
Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Insomnia
MedGen UID:
214589
Concept ID:
C0917801
Sign or Symptom
Persistent difficulty initiating or maintaining sleep.
Paranoia
MedGen UID:
306130
Concept ID:
C1456784
Mental or Behavioral Dysfunction
An inappropriate feeling of being persecuted or being the subject of hostility from others.
Acute episodes of neuropathic symptoms
MedGen UID:
401350
Concept ID:
C1867971
Finding
Respiratory paralysis
MedGen UID:
19748
Concept ID:
C0035232
Finding
Inability to move the muscles of respiration.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Cutaneous photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary coproporphyria
Follow this link to review classifications for Hereditary coproporphyria in Orphanet.

Professional guidelines

PubMed

Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Ricci A, Ventura P
Expert Rev Clin Pharmacol 2022 Apr;15(4):383-393. Epub 2022 May 11 doi: 10.1080/17512433.2022.2075848. PMID: 35531651
Gilles A, Vermeersch S, Vermeersch P, Wolff F, Cotton F, Tilleux S, Cassiman D
Acta Clin Belg 2022 Aug;77(4):735-741. Epub 2021 Aug 7 doi: 10.1080/17843286.2021.1961056. PMID: 34369323

Curated

Orphanet emergency guideline: Cutaneous porphyrias, 2007

Orphanet, Acute hepatic porphyria neuro-visceral crisis, 2007

Recent clinical studies

Etiology

Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Besur S, Schmeltzer P, Bonkovsky HL
J Emerg Med 2015 Sep;49(3):305-12. Epub 2015 Jul 7 doi: 10.1016/j.jemermed.2015.04.034. PMID: 26159905
Ramanujam VS, Anderson KE
Curr Protoc Hum Genet 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86. PMID: 26132003Free PMC Article
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059

Diagnosis

Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Gerischer LM, Scheibe F, Nümann A, Köhnlein M, Stölzel U, Meisel A
Brain Behav 2021 Nov;11(11):e2389. Epub 2021 Oct 17 doi: 10.1002/brb3.2389. PMID: 34661997Free PMC Article
Stölzel U, Doss MO, Schuppan D
Gastroenterology 2019 Aug;157(2):365-381.e4. Epub 2019 May 11 doi: 10.1053/j.gastro.2019.04.050. PMID: 31085196
Ramanujam VS, Anderson KE
Curr Protoc Hum Genet 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86. PMID: 26132003Free PMC Article
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059

Therapy

Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Besur S, Schmeltzer P, Bonkovsky HL
J Emerg Med 2015 Sep;49(3):305-12. Epub 2015 Jul 7 doi: 10.1016/j.jemermed.2015.04.034. PMID: 26159905
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059
Elder GH
Semin Dermatol 1990 Mar;9(1):63-9. PMID: 2203445
Moore MR, McColl KE, Goldberg A
Diabete Metab 1979 Dec;5(4):323-36. PMID: 398301

Prognosis

Yasuda M, Chen B, Desnick RJ
Mol Genet Metab 2019 Nov;128(3):320-331. Epub 2018 Nov 30 doi: 10.1016/j.ymgme.2018.11.012. PMID: 30594473Free PMC Article
Arora S, Young S, Kodali S, Singal AK
Indian J Gastroenterol 2016 Nov;35(6):405-418. Epub 2016 Oct 31 doi: 10.1007/s12664-016-0698-0. PMID: 27796941
Besur S, Schmeltzer P, Bonkovsky HL
J Emerg Med 2015 Sep;49(3):305-12. Epub 2015 Jul 7 doi: 10.1016/j.jemermed.2015.04.034. PMID: 26159905
Lamoril J, Puy H, Whatley SD, Martin C, Woolf JR, Da Silva V, Deybach JC, Elder GH
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Kauppinen R
Photodermatol Photoimmunol Photomed 1998 Apr;14(2):48-51. doi: 10.1111/j.1600-0781.1998.tb00010.x. PMID: 9638723

Clinical prediction guides

Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Roveri G, Nascimbeni F, Rocchi E, Ventura P
Postgrad Med 2014 Nov;126(7):108-20. doi: 10.3810/pgm.2014.11.2839. PMID: 25387219
Doss MO, Kühnel A, Gross U
Alcohol Alcohol 2000 Mar-Apr;35(2):109-25. doi: 10.1093/alcalc/35.2.109. PMID: 10787385
Downey DC
Br J Clin Pract 1994 Mar-Apr;48(2):97-9. PMID: 8025000
Cripps DJ
IARC Sci Publ 1986;(77):549-66. PMID: 3298037

Recent systematic reviews

Jaramillo-Calle DA, Solano JM, Rabinstein AA, Bonkovsky HL
Mol Genet Metab 2019 Nov;128(3):242-253. Epub 2019 Nov 1 doi: 10.1016/j.ymgme.2019.10.011. PMID: 31706631

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • Orphanet, 2007
      Orphanet emergency guideline: Cutaneous porphyrias, 2007
    • Orphanet, 2007
      Orphanet, Acute hepatic porphyria neuro-visceral crisis, 2007

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