raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:424925

Qualitative or quantitative defects of Torsin-1A-interacting protein 1

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
enQualitative or quantitative defects of Torsin-1A-interacting protein 1
frAnomalie qualitative ou quantitative de la Torsin-1A-interacting protein 1
deTorsion-1A-interagierendes Protein 1, qualitative oder quantitative Defekte
esDefectos cualitativos o cuantitativos de la proteína 1 de interacción torsina-1A
itDifetti qualitativi o quantitativi di Tor1AIP1
nlKwalitatieve of kwantitatieve defecten van Torsine-1A-interagerend proteïne 1
ptDefeitos qualitativos ou quantitativos do polipeptídeo 1B associado à lâmina
plJakościowe i ilościowe wady białka 1 oddziałującego z torsyną 1A
csKvalitativní nebo kvantitativní defekty Torsin-1A-interagujícího proteinu 1
ukЯкісні або кількісні дефекти білка 1, що взаємодіє з торсином-1А
zhTorsin-1A-互作蛋白1质量或数量缺陷
trTorsin-1A-etkileşimli protein 1'in kalitatif veya kantitatif defektleri
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO18529Evalidated
UMLSC5681207Evalidated

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 (1):

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