ORPHA:443057

Sporadic porphyria cutanea tarda

Synonyms: Porphyria cutanea tarda type I

This disease is described under Porphyria cutanea tarda

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Sporadic porphyria cutanea tarda	Porphyria cutanea tarda type I
fr	Porphyrie cutanée tardive sporadique	Porphyrie cutanée tardive type I
de	Porphyria cutanea tarda,sporadische	Porphyria cutanea tarda Typ I
es	Porfiria cutánea tarda esporádica	Porfiria cutánea tarda tipo I
it	Porfiria cutanea tarda sporadica	Porfiria cutanea tarda, tipo I
nl	Sporadische porphyria cutanea tarda	= en
pt	Porfiria cutânea tarda esporádica
pl	Sporadyczna porfiria skórna późna	Porfiria skórna późna typu I
cs	Sporadická porphyria cutanea tarda	Porphyria cutanea tarda, typ I
uk	Спорадична пізня порфірія кутикули	Кутикулярна порфірія пізнього типу I
zh	零星迟发性皮肤卟啉症	迟发性皮肤卟啉症I型
tr	Sporadik porfirya kutanea tarda	Porphyria cutanea tarda tip I

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	176090	E		validated
ICD-10	E80.1	NTBT	attributed	validated
ICD-11	5C58.10	NTBT	index	validated
MONDO	0008295	E		validated
MeSH	C566768	E		validated
UMLS	C1867968	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:101330Porphyria cutanea tarda
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare skin diseases; rare renal diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
HFE	Major susceptibility factor in	Assessed	HGNC:4886	ENSG00000010704	613609	6p22.2	homeostatic iron regulator	23741761[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.