Likely inborn error of metabolism

Gene: UROD

Red List (low evidence)

PMID: 30683557 Singal reports that porphyria cutanea tarda (PCT) clinically manifests with increased skin fragility and blistering skin lesions on sun exposed areas. Although mild liver biochemical abnormalities are common, advanced fibrosis and cirrhosis with hepatocellular carcinoma (HCC) can occasionally develop.

These metabolic disorders are unlikely to occur without the presentation of cutaneous symptoms although these may not have been diagnosed as PCT.

PMID: 6112327 Elder reports that hepatoerythropoietic porphyria (HEP) is the rare, homozygous form of familial PCT.

The symptoms of HEP can range from mild which may present later in life (PMID: 30514647 Weiss) and are similar to familial PCT (PMID: 38940544 Aarsand) to severe where patients may present during infancy with extreme photosensitivity, skin lesions with fluid-filled blisters that break and heal slowly, hypertrichosis, and scarring over the affected skin areas (PMID: 24175354 Rudnick).

PMID: 9211196 Elder notes that non-cutaneous manifestations are unusual. Amongst 18 cases of HEP with confirmed biallelic variants and accessible clinical details four had hepatomegaly (PMID: 7398998 Cruces) or splenomegaly (PMID: 3821794 Toback) or both (PMID: 21668429 To-figueras PMID: 7706766 Roberts), two had haemolytic anaemia (PMID: 7706766 Roberts and PMID: 20479301 Cantatore-Francis) two likely iron deficiency anaemia (PMID: 8644733 Moran-Jiminez, PMID: 18462440 Remenyik) and two an unspecified anaemia (PMID: 30514647 Weiss, PMID: 21668429 To-figueras) and one (PMID: 20479301 Cantatore-Francis) was developmentally delayed. Another child developed a left sided hemiparesis (PMID: 7971555 Parsons) and two individuals had seizures (PMID: 9296199 Berenguer).

Although these are inborn errors of metabolism, patients are most likely to present for the Cutaneous photosensitivity panel.

Created: 4 Apr 2026, 7:03 p.m. | Last Modified: 4 Apr 2026, 7:03 p.m.

Panel Version: 8.107

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Porphyria cutanea tarda OMIM:176100; Hepatoerythropoietic porphyria OMIM:176100

Publications

• PMID: 30683557
• 6112327
• 30514647
• 38940544
• 24175354
• 9211196
• 7398998
• 3821794
• 21668429
• 7706766
• 20479301
• 8644733
• 18462440
• 7971555
• 9296199

Green List (high evidence)

Clear evidence of association with the phenotype, unlikely to present via metabolic but not impossible so considered green

Created: 23 Feb 2017, 5:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)

Publications

• 27604308
• 9792863