GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Cutaneous Porphyria  
Disease Aliases (22)

Cep

Congenital erythropoietic porphyria

Congenital erythropoietic porphyrias

Congenital porphyria

Deficiency of uroporphyrinogen iii synthase

Erythropoietic porphyria

Erythropoietic porphyria, congenital

Erythropoietic porphyrias

Erythropoietic porphyrias, congenital

Gunther disease

Gunther's disease

Gunthers disease

Günther disease

Porphyria, congenital erythropoietic

Porphyria, erythropoietic, congenital

Porphyrias, congenital erythropoietic

Porphyrias, erythropoietic

Uroporphyrinogen iii synthase deficiency

Uros deficiency

Uroporphyrinogen iii synthase, deficiency of

Cutaneous porphyria

Uroporphyrinogen 3 synthase deficiency

Associated Genes (2)
 

NCBI-RefSeq:  UROS   (Uroporphyrinogen III synthase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  GATA1   (GATA binding protein 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Cutaneous porphyria OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations