2026 ICD-10-CM Diagnosis Code E80.20Unspecified porphyria

AHRQ’s CCSR groups this code into broader clinical categories.

• Acute Intermittent Porphyria|Porphyria, Acute Intermittent

  a genetic metabolic disorder inherited in an autosomal dominant pattern. it is caused by a deficiency of the enzyme porphobilinogen deaminase, which is involved in heme biosynthesis. signs and symptoms include nausea, vomiting, severe abdominal pain and distension, urinary retention, port-wine urine discoloration, hypertension, tachycardia, muscle weakness, loss of sensation, anxiety, depression, and arm, leg and back pain.

• Bovine Congenital Erythropoietic Porphyria

  a congenital metabolic disorder characterized by a deficiency in the enzyme uroporphyrinogen iii synthase, which occurs in cattle.

• Bovine Protoporphyria

  a congenital metabolic disorder characterized by a deficiency in the enzyme ferrochelatase, which occurs in cattle.

• Erythropoietic Porphyria|CEP

  a rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. it is caused by deficiency of the enzyme uroporphyrinogen iii cosynthetase. it results in cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas.

• Erythropoietic Protoporphyria|EPP|Protoporphyria, Erythropoietic

  a rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. it is caused by deficiency of the enzyme ferrochelatase. signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.

• Hepatoerythropoietic Porphyria

  a very rare form of porphyria cutanea tarda. it is characterized by deficiency of the enzyme uroporphyrinogen decarboxylase. signs and symptoms appear early in childhood and include extreme photosensitivity in the sun exposed areas of the skin with blistering and scar formation.

• Hereditary Coproporphyria

  an autosomal dominant inherited disorder of porphyrin metabolism caused by deficiency of the enzyme coproporphyrinogen oxidase. it results in neurologic damage and can include abdominal pain, constipation and psychiatric manifestations.

• Porphyria

  a group of genetic or acquired metabolic disorders characterized by defects in the enzymes that are involved in the heme synthesis.

• Porphyria Cutanea Tarda

  a cutaneous form of the genetic photosensitive disease, porphyria, that is characterized by onset in adult life and the presence of scarring bullae, hyperpigmentation, facial hypertrichosis, and sometimes sclerodermatous thickenings and alopecia. uroporphyrins are found in the urine due to a deficiency of uroporphyrinogen decarboxylase, an enzyme required for the synthesis of heme.

• Pseudoporphyria

  a drug-induced photodermatosis characterized by skin fragility, erythema, and the appearance of tense bullae, erosions and scarring in the absence of abnormalities in porphyrin metabolism.

• Variegate Porphyria

  an autosomal dominant disorder of porphyria-heme metabolism. it is manifested with acute attacks including abdominal pain, vomiting, diarrhea, constipation, seizures, anxiety, and confusion. patients may experience skin sensitivity to sunlight.

• X-Linked Protoporphyria|XLDPP|XLP

  an x-linked dominant porphyria caused by gain of function mutations in the alas2 gene, encoding 5'-aminolevulinate synthase 2 (5-aminolevulinate synthase, erythroid-specific, mitochondrial), which lead to overproduction of protoporphyrin and its accumulation in the blood, liver, and skin. excess protoporphyrin in the blood may lead to iron deficient anemia, while accumulation in the liver may contribute to the formation of gallstones and subsequent obstruction of the bile ducts. exposure to sunlight activates protoporphyrin in the skin, leading to severe pain, burning, and itching.

• Acute Hepatic Porphyria|ALAD Deficiency|Delta-Aminolevulinate Dehydratase Deficiency|Porphobilinogen Synthase Deficiency

  a family of rare genetic disorders characterized by episodes of severe, potentially life-threatening abdominal pain and neuropsychiatric symptoms due to abnormal heme production in the liver.

• CPOX wt Allele|COX|CPO|CPX|Coproporphyria Gene|Coproporphyrinogen Oxidase (Coproporphyria, Harderoporphyria) Gene|Coproporphyrinogen Oxidase wt Allele|HARPO|HCP|Homozygous Coproporphyria Gene

  human cpox wild-type allele is located in the vicinity of 3q11.2 and is approximately 23 kb in length. this allele, which encodes oxygen-dependent coproporphyrinogen-iii oxidase, mitochondrial protein, plays a role in the biosynthesis of heme via production of protoporphyrinogen-ix. mutations in the gene are associated with coproporphyria and harderoporphyria.

• FECH wt Allele|EPP|EPP1|FCE|Ferrochelatase (Protoporphyria) Gene|Ferrochelatase wt Allele|Heme Synthase Gene|Heme Synthetase Gene|Iron Chelatase Gene|Protoporphyria Gene

  human fech wild-type allele is located in the vicinity of 18q21.31 and is approximately 42 kb in length. this allele, which encodes ferrochelatase, mitochondrial protein, is involved in the final step in the heme biosynthetic pathway. mutations in the gene are associated with erythropoietic protoporphyria.

• HMBS wt Allele|ENCEP|Hydroxymethylbilane Synthase wt Allele|LENCEP|PBG-D|PBGD|PORC|Porphyria, Acute; Chester Type Gene|UPS|Uroporphyrinogen I Synthase Gene|Uroporphyrinogen I Synthetase Gene

  human hmbs wild-type allele is located in the vicinity of 11q23.3 and is approximately 9 kb in length. this allele, which encodes porphobilinogen deaminase protein, is involved in the heme biosynthesis pathway. loss of function mutations in the gene are associated with acute intermittent porphyria and porphyria-related encephalopathy and leukoencephalopathy.

• UROS wt Allele|Congenital Erythropoietic Porphyria Gene|Hydroxymethylbilane Hydrolyase Gene|UROIIIS|Uroporphyrinogen III Decarboxylase Gene|Uroporphyrinogen III Synthase wt Allele

  human uros wild-type allele is located in the vicinity of 10q26.2 and is approximately 38 kb in length. this allele, which encodes uroporphyrinogen-iii synthase protein, is involved in the synthesis of the porphyrin precursor uroporphyrinogen iii. mutations in the gene are associated with congenital erythropoietic porphyria.

Porphyria

Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen.

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