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Hereditary thrombophilia due to congenital protein S deficiency
2 OMIM references -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
Acute promyelocytic leukemia
1 OMIM reference -
7 associated genes
No signs/symptoms info
Hereditary thrombophilia due to congenital protein S deficiency
Acute promyelocytic leukemia

PROS1
(UniProt - OMIM)
 NABP1
(UniProt - OMIM)
NPM1
(UniProt - OMIM)
NUMA1
(UniProt - OMIM)
PML
(UniProt - OMIM)
RARA
(UniProt - OMIM)
STAT5B
(UniProt - OMIM)
ZBTB16
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PROS1
(0.63)
NPM1


Citations in the biomedical literature:


Hereditary thrombophilia due to congenital protein S deficiency
PROS1
Acute promyelocytic leukemia
NABP1 NPM1 NUMA1 PML RARA STAT5B
ZBTB16



Hereditary thrombophilia due to congenital protein S deficiency
Acute promyelocytic leukemia

Synonym(s):
(no synonyms)

Synonym(s):
- Acute myeloblastic leukemia type 3
- Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D015473
Hereditary thrombophilia due to congenital protein S deficiency

Very frequent
- Autosomal dominant inheritance
- Purpura / petichiae

Frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Retinopathy
- Skin hypoplasia / aplasia / atrophy
- Thin skin
- Venous thrombosis / phlebitis / thrombophlebitis

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Arterial embolism / thrombosis
- Cerebral vascular anomalies
- Chronic skin infection / ulcerations / ulcers / cancrum
- Gangrena / necrosis
- Pulmonary thromboembolism
- Varices / varicous veins / venous insufficiency


Acute promyelocytic leukemia

(no data available)