ORPHA:443062

Familial porphyria cutanea tarda

Synonyms: Porphyria cutanea tarda type II

This disease is described under Porphyria cutanea tarda

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial porphyria cutanea tarda	Porphyria cutanea tarda type II
fr	Porphyrie cutanée tardive familiale	Porphyrie cutanée tardive type II
de	Porphyria cutanea tarda, familäre	Porphyria cutanea tarda Typ II
es	Porfiria cutánea tarda familiar	Porfiria cutánea tarda tipo II
it	Porfiria cutanea tarda familiare	Porfiria cutanea tarda, tipo II
nl	Familiale porphyria cutanea tarda	= en
pt	Porfiria cutânea tarda, forma familiar
pl	Rodzinna porfiria skórna późna	Porfiria skórna późna typu II
cs	Familiární porphyria cutanea tarda	Porphyria cutanea tarda, typ II
uk	Сімейна пізня порфірія	Кутикулярна порфірія пізнього типу II
zh	家族性迟发性卟啉症皮肤	迟发性皮肤卟啉症II型
tr	ailesel porfirya kutanea tarda	Porphyria cutanea tarda tip II

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	176100	E		validated
ICD-10	E80.1	NTBT	attributed	validated
ICD-11	5C58.10	NTBT	index	validated
MONDO	0008296	E		validated
UMLS	C0268323	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.

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
UROD	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12591	ENSG00000126088	613521	1p34.1	uroporphyrinogen decarboxylase	23741761[PMID]
HFE	Modifying germline mutation 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.