Hereditary thrombophilia due to congenital protein S deficiency
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 13 |
OrphanetNr: | 743 |
OMIM Id: |
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 0.2 of 100 000 [Orphanet] |
Inheritance: |
Autosomal recessive [Orphanet] |
Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Rare hereditary thrombophilia
-Rare genetic disease -Rare hematologic disease |
Symptom Information:
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(HPO:0000488) | Retinopathy | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0000951) | Abnormality of the skin | Frequent [Orphanet] | 147 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0001933) | Subcutaneous hemorrhage | Very frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | Occasional [Orphanet] | 105 / 7739 | |||
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(HPO:0000963) | Thin skin | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0008065) | Aplasia/Hypoplasia of the skin | Frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0005293) | Venous insufficiency | Occasional [Orphanet] | 27 / 7739 | |||
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(HPO:0100659) | Abnormality of the cerebral vasculature | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0004420) | Arterial thrombosis | Occasional [Orphanet] | 20 / 7739 | |||
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(HPO:0004936) | Venous thrombosis | Frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0100758) | Gangrene | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0002204) | Pulmonary embolism | Occasional [Orphanet] | 26 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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