raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:168629

Autosomal isolated thrombocytopenia with normal platelets size

Type
Etiological subtype
Group
Subtype of disorder
Inheritance
Autosomal dominant, Autosomal recessive
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAutosomal isolated thrombocytopenia with normal platelets size
frThrombocytopénie isolée autosomique avec plaquettes de taille normale
deIsolierte Thrombozytopenie mit normaler Thrombozytengröße, autosomale Form
esTrombocitopenia aislada autosómica con plaquetas de tamaño normal
itTrombocitopenia autosomica isolata con piastrine normali
nlAutosomale geïsoleerde trombocytopenie met normale bloedplaatjesAutosomale geïsoleerde trombocytopenie met normale trombocyten
ptTrombocitopenia autossómica com plaquetas normais
plAutosomalna trombocytopenia z prawidłowymi płytkami krwi
csAutozomální trombocytopenie s normálními krevními destičkami
ukАутосомна тромбоцитопенія з нормальними тромбоцитами
zh常染色体血小板减少症伴血小板正常
trNormal trombositler ile seyreden otozomal trombositopeni
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM188000BTNTvalidated
OMIM273900BTNTvalidated
OMIM612004BTNTvalidated
OMIM616216BTNTvalidated
ICD-10D69.4NTBTattributedvalidated
UMLSC5680462Evalidated

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

5 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
ANKRD26Disease-causing germline mutation(s) inAssessedHGNC:29186ENSG0000010789061085510p12.1ankyrin repeat domain 2626175287[PMID]
CYCSDisease-causing germline mutation(s) inAssessedHGNC:19986ENSG000001721151239707p15.3cytochrome c, somatic18345000[PMID]_24326104[PMID]
ETV6Disease-causing germline mutation(s) inAssessedHGNC:3495ENSG0000013908360061812p13.2ETS variant transcription factor 627365488[PMID]
IKZF5Disease-causing germline mutation(s) inAssessedHGNC:14283ENSG0000009557460623810q26.13IKAROS family zinc finger 531217188[PMID]
MASTLDisease-causing germline mutation(s) inAssessedHGNC:19042ENSG0000012053960822110p12.1microtubule associated serine/threonine kinase like12890928[PMID]
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