ORPHA:443197

X-linked erythropoietic protoporphyria

Synonyms: X-linked dominant erythropoietic protoporphyria · X-linked dominant protoporphyria · XLDPP · XLPP

Type: Disease
Group: Disorder
Inheritance: X-linked dominant
Age of onset: Childhood
Status: active

A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	X-linked erythropoietic protoporphyria	X-linked dominant erythropoietic protoporphyria · X-linked dominant protoporphyria · XLDPP · XLPP
fr	Protoporphyrie érythropoïétique liée à l'X	Protoporphyrie dominante liée à l'X · Protoporphyrie érythropoïétique dominante liée à l'X · XLDPP
de	Protoporphyrie, erythropoetische, X-chromosomale	Protoporphyrie, X-chromosomal-dominante · X-chromosomal-dominante erythropoetische Protoporphyrie · XLDPP · XLPP
es	Protoporfiria eritropoyética ligada al cromosoma X	Protoporfiria dominante ligada al cromosoma X · Protoporfiria eritropoyética dominante ligada al cromosoma X · XLDPP · XLPP
it	Protoporfiria eritropoietica legata all'X	Protoporfiria dominante legata all'X · Protoporfiria eritropoietica dominante legata all'X · XLDPP · XLPP
nl	X-gebonden erytropoëtische protoporfyrie	X-gebonden dominante protoporfyrie · XLDPP · XLPP · X-gebonden dominante erytropoëtische protoporfyrie
pt	Protoporfiria eritropoiética ligada ao X	Protoporfiria eritropoiética ligada ao X dominante · Protoporfiria ligada ao X dominante · XLDPP
pl	Protoporfiria erytropoetyczna sprzężona z chromosomem X	Dominująca protoporfiria erytropoetyczna sprzężona z chromosomem X · Dominująca protoporfiria sprzężona z chromosomem X · XLDPP · XLP · XLPP
cs	X-vázaná erytropoetická protoporfyrie	X-vázaná dominantní erytropoetická protoporfyrie · X-vázaná dominantní protoporfyrie · XLDPP · XLP · XLPP
uk	Х-зчеплена еритропоетична протопорфірія	XLDPP · Х-зчеплена домінантна еритропоетична протопорфірія · Х-зчеплена домінантна протопорфірія · XLPP
zh	X连锁遗传性红细胞生成性原卟啉症	X连锁显性红细胞生成性原卟啉症
tr	X'e bağlı eritropoietik protoporfiri	XLP · XLPP · XLDPP · X-ilişkili baskın protoporfiri · X-ilişkili baskın eritropoietik protoporfiri

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	300752	E		validated
ICD-10	E80.0	NTBT	attributed	validated
ICD-11	5C58.12	NTBT	index	validated
MONDO	0010420	E		validated
MeSH	C567464	E		validated
UMLS	C2677889	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (1):

ORPHA:659681Erythropoietic porphyria
rare inborn errors of metabolism; rare genetic diseases; rare skin diseases; rare renal diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ALAS2	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:397	ENSG00000158578	301300	Xp11.21	5'-aminolevulinate synthase 2	23409301[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		50 cases	Worldwide	Case(s)	Validated	24131146[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_24131146[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/443197
This record as JSON: /data/d/443197.json