ORPHA:140957

Autosomal dominant macrothrombocytopenia

A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant macrothrombocytopenia
fr	Macrothrombocytopénie autosomique dominante
de	Makrothrombozytopenie, autosomal-dominante
es	Macrotrombocitopenia autosómica dominante
it	Macrotrombocitopenia autosomica dominante
nl	Autosomaal dominante macrotrombocytopenie
pt	Macrotrombocitopenia autossómica dominante
pl	Autosomalna dominująca makrotrombocytopenia
cs	Autozomálně dominantní makrotrombocytopenie
uk	Аутосомно-домінантна макротромбоцитопенія
zh	常染色体显性遗传巨血小板减少症
tr	Otozomal dominant makrotrombositopeni

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	187800	NTBT		validated
OMIM	613112	BTNT		validated
OMIM	615193	BTNT		validated
OMIM	619271	BTNT		validated
OMIM	619840	BTNT		validated
OMIM	620486	BTNT		validated
ICD-10	D69.1	NTBT	attributed	validated
ICD-11	3B62.01	NTBT	attributed	validated
MONDO	0015372	E		validated
UMLS	C4304021	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 (1):

No children.

10 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TPM4	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12013	ENSG00000167460	600317	19p13.12-p13.11	tropomyosin 4	28134622[PMID]
ACTN1	Disease-causing germline mutation(s) in	Assessed	HGNC:163	ENSG00000072110	102575	14q24.1	actinin alpha 1	23434115[PMID]
GFI1B	Disease-causing germline mutation(s) in	Assessed	HGNC:4238	ENSG00000165702	604383	9q34.13	growth factor independent 1B transcriptional repressor	23927492[PMID]
GP1BA	Disease-causing germline mutation(s) in	Assessed	HGNC:4439	ENSG00000185245	606672	17p13.2	glycoprotein Ib platelet subunit alpha	21933849[PMID]
GP1BB	Disease-causing germline mutation(s) in	Assessed	HGNC:4440	ENSG00000203618	138720	22q11.21	glycoprotein Ib platelet subunit beta	28064200[PMID]
ITGA2B	Disease-causing germline mutation(s) in	Assessed	HGNC:6138	ENSG00000005961	607759	17q21.31	integrin subunit alpha 2b	21454453[PMID]
ITGB3	Disease-causing germline mutation(s) in	Assessed	HGNC:6156	ENSG00000259207	173470	17q21.32	integrin subunit beta 3	18065693[PMID]_19336737[PMID]
TRPM7	Disease-causing germline mutation(s) in	Assessed	HGNC:17994	ENSG00000092439	605692	15q21.2	transient receptor potential cation channel subfamily M member 7	27020697[PMID]
TUBA8	Disease-causing germline mutation(s) in	Assessed	HGNC:12410	ENSG00000183785	605742	22q11.21	tubulin alpha 8	34704371[PMID]
TUBB1	Disease-causing germline mutation(s) in	Assessed	HGNC:16257	ENSG00000101162	612901	20q13.32	tubulin beta 1 class VI	18849486[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		100 cases	Worldwide	Case(s)	Validated	18065693[PMID]_18849486[PMID]_24069336[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	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.

9 annotations · validated 2025-11-20

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0011877	Increased mean platelet volume
HP:0040185	Macrothrombocytopenia
HP:0001873	Thrombocytopenia
Frequent (79-30%)
HP:0032438	Platelet anisocytosis
Occasional (29-5%)
HP:0000978	Bruising susceptibility
HP:0000421	Epistaxis
HP:0100608	Metrorrhagia
HP:0006298	Prolonged bleeding after dental extraction
HP:0004846	Prolonged bleeding after surgery

Annotation source: 33813986[PMID]_33276370[PMID]