Details of Disease | DrugMAP

General Information of Disease (ID: DISUQTL2)

Disease Name	Cutaneous porphyria
Synonyms	uroporphyrinogen 3 synthase deficiency; porphyria, congenital erythropoietic; congenital erythropoietic porphyria; Cep; Uros deficiency; Gunther disease; congenital porphyria; uroporphyrinogen III synthase, deficiency of; erythropoietic porphyria; cutaneous porphyria; CEP; Congenital Erythropoietic Porphyria; Gnther disease
Definition	Congenital erythropoietic porphyria, or Gnther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.
Disease Hierarchy	DIS487SI: Hereditary haemolytic anemia DIS0Y78V: Anemia due to erythrocyte enzyme disorder DISEPFG2: Inherited porphyria DISUQTL2: Cutaneous porphyria
Disease Identifiers	MONDO ID MONDO_0009902 MESH ID D017092 UMLS CUI C0162530 OMIM ID 263700 MedGen ID 102408 Orphanet ID 79277 SNOMED CT ID 190913009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UROS	OT2PDQUJ	Definitive	Autosomal recessive	[1]
GATA1	OTX1R7O1	Supportive	Autosomal recessive	[6]
PARP9	OT7K4494	Strong	Biomarker	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ALAS1	TTG1FXO	Limited	Biomarker	[2]
CEL	TTTRNQW	Strong	Biomarker	[3]
LGMN	TTPTWV5	Strong	Genetic Variation	[4]
FECH	TTQ6VF4	Definitive	Genetic Variation	[5]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC27A5	DT0TQS3	Strong	Biomarker	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALAS2	DE437BY	Strong	Genetic Variation	[5]
------------------------------------------------------------------------------------

References

1	Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Hum Genet. 1992 Jan;88(3):320-4. doi: 10.1007/BF00197267.
2	Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments.Curr Opin Hematol. 2017 May;24(3):198-207. doi: 10.1097/MOH.0000000000000330.
3	Elevated Periostin Concentrations in the Bronchoalveolar Lavage Fluid of Patients with Eosinophilic Pneumonia.Int Arch Allergy Immunol. 2019;178(3):264-271. doi: 10.1159/000494623. Epub 2019 Jan 4.
4	Drug-induced eosinophilic pneumonia: A review of 196 case reports.Medicine (Baltimore). 2018 Jan;97(4):e9688. doi: 10.1097/MD.0000000000009688.
5	Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.Mol Genet Metab. 2019 Nov;128(3):358-362. doi: 10.1016/j.ymgme.2018.08.015. Epub 2018 Aug 31.
6	Congenital Erythropoietic Porphyria. 2013 Sep 12 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.