ORPHA:743

Severe hereditary thrombophilia due to congenital protein S deficiency

Synonyms: Autosomal recessive thrombophilia due to congenital protein S deficiency

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
Status: active

An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Severe hereditary thrombophilia due to congenital protein S deficiency	Autosomal recessive thrombophilia due to congenital protein S deficiency
fr	Thrombophilie héréditaire sévère due au déficit congénital en protéine S	Thrombophilie autosomique récessive due au déficit congénital en protéine S
de	Schwere hereditäre Thrombophilie durch kongenitalen Protein-S-Mangel	Thrombophilie durch kongenitalen Protein-S-Mangel, autosomal-rezessive
es	Trombofilia hereditaria grave por deficiencia congénita de proteína S	Trombofilia autosómica recesiva por deficiencia congénita de proteína S
it	Trombofilia ereditaria da deficit congenito della proteina S
nl	Ernstige erfelijke trombofilie door congenitale proteïne S-deficiëntie	Autosomaal recessieve trombofilie door congenitale proteïne S-deficiëntie
pt	Trombofilia hereditária grave devida a deficiência de proteína S
pl	Dziedziczna małopłytkowość spowodowana wrodzonym niedoborem białka S	= en
cs	Vážná hereditární trombofilie způsobená vrozeným deficitem proteinu S	= en
uk	Тяжка спадкова тромбофілія внаслідок вродженого дефіциту S протеїну	Аутосомно-рецесивна тромбофілія внаслідок вродженого дефіциту протеїну S
zh	遗传性蛋白S缺乏所致严重遗传性血栓形成	先天性S蛋白缺陷所致常染色体隐性血栓形成倾向
tr	Doğumsal protein S eksikliğine bağlı ağır kalıtsal trombofili	Doğumsal protein S eksikliğine bağlı otozomal Çekinik trombofili

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	612336	BTNT		validated
OMIM	614514	BTNT		validated
ICD-10	D68.5	NTBT	attributed	validated
ICD-11	3B61.0Y	NTBT	index	validated
MONDO	0019144	E		validated
MONDO	19144	E		validated
UMLS	C2584611	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:217454Rare hereditary thrombophilia
rare genetic diseases; rare hematological diseases; rare systemic and rheumatological diseases; rare bone diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PROS1	Disease-causing germline mutation(s) in	Assessed	HGNC:9456	ENSG00000184500	176880	3q11.1	protein S	17849042[PMID]_19466456[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	Pr Jenny GOUDEMAND[EXPERT]
Prevalence at birth	Unknown	—	Europe	Class only	Validated	Pr Jenny GOUDEMAND[EXPERT]

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

14 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000979	Purpura
Frequent (79-30%)
HP:0008065	Aplasia/Hypoplasia of the skin
HP:0002625	Deep venous thrombosis
HP:0000488	Retinopathy
HP:0001933	Subcutaneous hemorrhage
HP:0000963	Thin skin
HP:0004418	Thrombophlebitis
Occasional (29-5%)
HP:0001000	Abnormality of skin pigmentation
HP:0100659	Abnormality of the cerebral vasculature
HP:0004420	Arterial thrombosis
HP:0100758	Gangrene
HP:0002204	Pulmonary embolism
HP:0200042	Skin ulcer
HP:0005293	Venous insufficiency

Run the differential on the 1 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/743
This record as JSON: /data/d/743.json