ORPHA:93583

Congenital thrombotic thrombocytopenic purpura

Synonyms: Congenital ADAMTS-13 deficiency · Congenital TTP · Familial TTP · Upshaw-Schulman syndrome · cTTP

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
Age of onset: Adult, Childhood, Infancy, Neonatal
Status: active

A hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Congenital thrombotic thrombocytopenic purpura	Congenital ADAMTS-13 deficiency · Congenital TTP · Familial TTP · Upshaw-Schulman syndrome · cTTP
fr	Purpura thrombotique thrombocytopénique congénital	Déficit congénital en ADAMTS-13 · PTT congénital · PTT familial · Syndrome d'Upshaw-Schulman · TTP congénital
de	Kongenitale thrombotische thrombozytopenische Purpura	Familiäre TTP · Kongenitaler ADAMTS-13-Mangel · Upshaw-Schulman-Syndrom · cTTP
es	Púrpura trombocitopénica trombótica congénita	Deficiencia congénita de ADAMTS-13 · PTT congénita · PTT familiar · Síndrome de Upshaw-Schulman
it	Porpora trombotica trombocitopenica congenita	cTTP · Deficit congenito di ADAMTS-13 · Sindrome di Upshaw-Schulman · TTP congenita · TTP familiare
nl	Congenitale trombotische trombocytopenische purpura	Congenitale ADAMTS-13-deficiëntie · Congenitale TTP · Familiale TTP · Syndroom van Upshaw-Schulman · cTTP
pt	Púrpura trombocitopénica trombótica congénita	Deficiência ADAMTS-13 congénita · TTP congénita · TTP familiar · Síndrome Upshaw-Schulman · cTTP
pl	Wrodzona zakrzepowa plamica małopłytkowa	Rodzinna TTP · Wrodzona TTP · Wrodzony Niedobór ADAMTS-13 · Zespół Upshawa i Schulmana
cs	Vrozená trombotická trombocytopenická purpura	Vrozený deficit ADAMTS-13 · Vrozená TTP · Familiární TTP · Upshawův-Schulmanův syndrom · Upshaw-Schulmanův syndrom
uk	Вроджена тромботична тромбоцитопенічна пурпура	Вроджений дефіцит ADAMTS-13 · Вроджена ТТП · Сімейний ТТП · Синдром Апшоу-Шульмана
zh	先天性血栓性血小板减少性紫癜	先天性ADAMTS-13缺乏
tr	Doğumsal trombotik trombositopenik purpura	Ailesel TTP · Doğumsal TTP · Upshaw-Schulman sendromu · Doğumsal ADAMTS-13 eksikliği

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	274150	E		validated
ICD-10	M31.1	NTBT	attributed	validated
ICD-11	3B64.14	NTBT	index	validated
MONDO	0010122	E		validated
UMLS	C1268935	E		validated
GARD	9430	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 (3):

ORPHA:183589Genetic thrombotic microangiopathy
rare genetic diseases
ORPHA:183654Rare genetic coagulation disorder
rare genetic diseases
ORPHA:54057Thrombotic thrombocytopenic purpura
rare renal diseases; rare hematological diseases; rare transplant-related disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ADAMTS13	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:1366	ENSG00000160323	604134	9q34.2	ADAM metallopeptidase with thrombospondin type 1 motif 13	25587650[PMID]

Prevalence and incidence

3 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	<1 / 1 000 000	—	Worldwide	Class only	Validated	[EXPERT]_19847791[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	[EXPERT]_ORPHANET
Cases/families		123 cases	Worldwide	Case(s)	Validated	30792199[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/93583
This record as JSON: /data/d/93583.json