ORPHA:659672

Harderoporphyria

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Harderoporphyria
fr	Harderoporphyrie
de	Harderoporphyrie
es	Harderoporfiria
it	Porfiria ereditaria con anemia emolitica
nl	Harderoporfyrie
pt	Harderoporfiria
pl	Harderoporfiria
cs	Harderoporfyrie
uk	Хардеропорфірія

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618892	E		validated
ICD-10	E80.2	NTBT	attributed	validated
ICD-11	5C58.1Y	NTBT	index	validated
MONDO	0030048	E		validated
MONDO	30048	E		validated
UMLS	C0342859	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 (2):

ORPHA:659681Erythropoietic porphyria
rare inborn errors of metabolism; rare genetic diseases; rare skin diseases; rare renal diseases
ORPHA:98369Rare constitutional hemolytic anemia due to an enzyme disorder
rare genetic diseases; rare hematological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CPOX	Disease-causing germline mutation(s) in	Assessed	HGNC:2321	ENSG00000080819	612732	3q11.2	coproporphyrinogen oxidase	30828546[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		6 cases	Worldwide	Case(s)	Validated	6886003[PMID]_6143037[PMID]_16159891[PMID]_21103937[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	6886003[PMID]_6143037[PMID]_16159891[PMID]_21103937[PMID]_ORPHANET

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

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