Dystonia, chorea or related movement disorder, childhood onset

Gene: UROD

Red List (low evidence)

Comment on list classification: While variants in UROD are known to cause porphyria with cutaneous manifestations, evidence for association with neurologic phenotypes like dystonia is limited. Hence, the rating should remain Red on Dystonia, chorea or related movement disorder, childhood onset.

Created: 25 Sep 2026, 11:07 a.m. | Last Modified: 25 Sep 2026, 11:07 a.m.

Panel Version: 8.14

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Red List (low evidence)

AS reviewed by Sharon Whatley, neurological manifestations are not typical of UROD-related porphyria cutanea tarda (PCT) (OMIM: 176100) or hepatoerythropoietic porphyria (HEP) (OMIM:176100) (GeneReviews).

Cantatore-Francis et al., 2010, PMID 20479301: Three siblings with biochemically confirmed HEP with compound heterozygous UROD variants, c.497T>C V166A and c.645del1053ins10 (p.198 truncation), presented with developmental delay, abnormal gait. Brain MRI was normal. Direct UROD gene sequencing was performed, thus alternate causes for the neurological aspects of the clinical presentation cannot be excluded. The proband and most severely affected sibling were also heterozygous for HFE H63D and had increased serum ferritin levels.

A red rating is reiterated in light of very limited and equivocal evidence linking UROD-related porphyria to neurological manifestations, including dystonia, chorea or related movement disorder.

Created: 25 Sep 2026, 10:43 a.m. | Last Modified: 25 Sep 2026, 10:43 a.m.

Panel Version: 8.14

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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

Publications

• 20479301

Red List (low evidence)

Movement disorders such as dystonia and chorea are not characteristic of porphyria cutanea tarda (PCT) or hepatoerythropoietic porphyria (HEP), the UROD gene, therefore, is not relevant to this panel.

Created: 4 Apr 2026, 7:06 p.m. | Last Modified: 4 Apr 2026, 7:06 p.m.

Panel Version: 7.20

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Red List (low evidence)