raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:79186

Disorder of pentose phosphate metabolism

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enDisorder of pentose phosphate metabolism
frTrouble du métabolisme des pentoses-phosphates
dePentosephosphat-Stoffwechselstörung
esTrastornos del metabolismo de la pentosa fosfato
itDifetto del metabolismo del pentoso fosfato
nlStoornis van pentosefosfaatmetabolisme
ptDoença do metabolismo das pentoses
plZaburzenie metabolizmu fosforanu pentozy
csPoruchy metabolismu pentózafostátu
ukПорушення метаболізму пентозофосфату
zh磷酸戊糖代谢异常
trPentoz fosfat metabolizması bozukluğu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-115C51.0Especificvalidated
MONDO0019231Evalidated
MONDO19231Evalidated
UMLSC5681279Evalidated

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

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (4):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

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

7

Sources for this card