CONGENITAL ERYTHTOPOIETIC PORPHYRIA (CEP, GUNTHER DISEASE)

rare (<200 cases) autosomal recessive mutation in the uroporphyrinogen III synthase gene

Angeborene erythropoetische Porphyrie; Günther-Krankheit

Question 1

What is  CONGENITAL ERYTHTOPOIETIC PORPHYRIA (CEP, GUNTHER DISEASE)?

Accepted Answer

rare (<200 cases)
autosomal recessive
mutation in the uroporphyrinogen III synthase gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Angeborene erythropoetische Porphyrie; Günther-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 263700

Question 4

Which enzymes are involved?

Accepted Answer

Uroporphyrinogen-III synthase

Disease	CONGENITAL ERYTHTOPOIETIC PORPHYRIA (CEP, GUNTHER DISEASE)
Synonym	PORPHYRIA, CONGENITAL ERYTHTOPOIETIC; PORPHYRIA, ERYTHTOPOIETIC
OMIM	263700 OMIM = Online Mendelian Inheritance of Men
Orphanet	79277
Protein (UniProt)	Uroporphyrinogen-III synthase
ExPASy	4.2.1.75
Gene locus	10q26.2
ICD	E80.0
Summary	rare (<200 cases) autosomal recessive mutation in the uroporphyrinogen III synthase gene
Laboratory findings	Porphyrins inc (plasma) Porphyrins inc (erythrocytes) Porphyrins inc (urine) Porphyrins inc (fecal) Uroporphyrinogen III cosynthase dec (erythrocytes)
Symptoms	alopecia anemia bone fractures conjunctivitis erythrodontia gallstones, cholelithiasis hemolysis hyperpigmentation hypertrichosis hypopigmentation onset, infancy onset, neonatal photophobia or photosensitive defect in light-exposed area red colored urine short stature skin defects splenomegaly (large spleen) thrombopenia, thrombocytopenia urine color, abnormal