Hereditary thrombophilia due to congenital protein C deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Hereditary thrombophilia due to PC deficiency
Number of Symptoms 19
OrphanetNr: 745
OMIM Id: 176860
612304
ICD-10: D68.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.2 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hereditary thrombophilia
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000478) Abnormality of the eye 126 / 7739
2
 (HPO:0000707) Abnormality of the nervous system 61 / 7739
3
 (HPO:0001038) Warfarin-induced skin necrosis 3 / 7739
4
 (HPO:0001933) Subcutaneous hemorrhage Frequent [Orphanet] 50 / 7739
5
 (HPO:0000963) Thin skin Frequent [Orphanet] 96 / 7739
6
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
7
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
8
 (HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
9
 (HPO:0100659) Abnormality of the cerebral vasculature Occasional [Orphanet] 25 / 7739
10
 (HPO:0005293) Venous insufficiency Occasional [Orphanet] 27 / 7739
11
 (HPO:0004936) Venous thrombosis Frequent [Orphanet] 41 / 7739
12
 (HPO:0100724) Hypercoagulability 15 / 7739
13
 (HPO:0005543) Reduced protein C activity 4 / 7739
14
 (HPO:0002638) Superficial thrombophlebitis 6 / 7739
15
 (HPO:0005305) Cerebral venous thrombosis 7 / 7739
16
 (HPO:0002625) Deep venous thrombosis 10 / 7739
17
 (HPO:0100758) Gangrene Occasional [Orphanet] 25 / 7739
18
 (HPO:0002204) Pulmonary embolism Occasional [Orphanet] 26 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: