raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:689234

RNASEH2B-related hereditary spastic paraplegia

Synonyms: Ribonuclease H2 subunit B-related hereditary spastic paraplegia

Type
Disease
Group
Disorder
Inheritance
Autosomal recessive
Age of onset
Infancy, Neonatal
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enRNASEH2B-related hereditary spastic paraplegiaRibonuclease H2 subunit B-related hereditary spastic paraplegia
frParaplégie spastique héréditaire associée à RNASEH2BParaparésie spastique héréditaire associée à RNASEH2B · Paraplégie spastique héréditaire associée au gène Ribonuclease H2 subunit B
deHereditäre spastische Paraplegie, RNASEH2B-assoziierte
esParaplejía espástica hereditaria asociada a RNASEH2BParaplejía espástica hereditaria asociada a la subunidad B de la ribonucleasa H2
itParaplegia spastica ereditaria correlata a RNASEH2BParaplegia spastica ereditaria correlata alla subunità B della ribonucleasi H2
nlRNASEH2B-gerelateerde hereditaire spastische paraplegieRibonuclease H2 subeenheid B-gerelateerde hereditaire spastische paraplegie
ptParaplegia espástica hereditária RNASEH2B-relacionada
plDziedziczna paraplegia spastyczna związana z RNASEH2B= en
csDědičná spastická paraplegie související s RNASEH2B= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM610181NTBTvalidated
ICD-10G11.4NTBTattributedvalidated
ICD-118B44.01NTBTattributedvalidated

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):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
RNASEH2BDisease-causing germline mutation(s) inAssessedHGNC:25671ENSG0000013610461032613q14.3ribonuclease H2 subunit B38229641[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families22 casesWorldwideCase(s)Validated15908569[PMID]_25243380[PMID]_30826161[PMID]
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidated15908569[PMID]_25243380[PMID]_30826161[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.

6

HPO phenotypes

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

7

Sources for this card