ORPHA:726050

Congenital amegakaryocytic thrombocytopenia-THPO

Synonyms: CAMT-THPO · Congenital amegakaryocytic thrombocytopenia due to THPO deficiency · Congenital amegakaryocytic thrombocytopenia due to thrombopoietin deficiency

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

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Congenital amegakaryocytic thrombocytopenia-THPO	CAMT-THPO · Congenital amegakaryocytic thrombocytopenia due to THPO deficiency · Congenital amegakaryocytic thrombocytopenia due to thrombopoietin deficiency
fr	Thrombocytopénie amégacaryocytaire congénitale-THPO	CAMT-THPO · Thrombocytopénie amégacaryocytaire congénitale par déficit en thrombopoïétine · Thrombocytopénie amégacaryocytaire congénitale par déficit en THPO
de	Kongenitale amegakaryozytäre Thrombozytopenie, THPO-assoziierte	CAMT2 · Angeborene amegakaryozytäre Thrombozytopenie durch THPO-Defizienz · Thrombozytopenie, amegakaryozytäre, kongenitale, Typ 2
es	Trombocitopenia amegacariocítica congénita por deficiencia de trombopoyetina	TAC-TPO · Trombocitopenia amegacariocítica congénita por deficiencia de TPO
it	Trombocitopenia amegacariocitica congenita-THPO	CAMT-THPO · Trombocitopenia amegacariocitica congenita da deficit di THPO · Trombocitopenia amegacariocitica congenita da deficit di trombopoietina
nl	Congenitale amegakaryocytaire trombocytopenie-THPO	CAMT-THPO · Congenitale amegakaryocytaire trombocytopenie door THPO-deficiëntie · Congenitale amegakaryocytaire trombocytopenie door deficiëntie van trombopoëtine
pt	Congenital amegakaryocytic thrombocytopenia-THPO
pl	Congenital amegakaryocytic thrombocytopenia-THPO	= en
cs	Congenital amegakaryocytic thrombocytopenia-THPO	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	620481	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97992Rare hematologic disease

Parents in the classifications (1):

ORPHA:3319Congenital amegakaryocytic thrombocytopenia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
THPO	Disease-causing germline mutation(s) in	Assessed	HGNC:11795	ENSG00000090534	600044	3q27.1	thrombopoietin	29191945[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/726050
This record as JSON: /data/d/726050.json