MCID: SVR099
MIFTS: 15

Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency

Categories: Blood diseases, Bone diseases, Rare diseases

Aliases & Classifications for Severe Hereditary Thrombophilia Due to Congenital Protein S...

MalaCards integrated aliases for Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency:

Name: Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency 59
Autosomal Recessive Thrombophilia Due to Congenital Protein S Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
severe hereditary thrombophilia due to congenital protein s deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Severe Hereditary Thrombophilia Due to Congenital Protein S...

MalaCards based summary : Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency, is also known as autosomal recessive thrombophilia due to congenital protein s deficiency. An important gene associated with Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency is PROS1 (Protein S). Affiliated tissues include skin and bone, and related phenotypes are retinopathy and pulmonary embolism

Related Diseases for Severe Hereditary Thrombophilia Due to Congenital Protein S...

Symptoms & Phenotypes for Severe Hereditary Thrombophilia Due to Congenital Protein S...

Human phenotypes related to Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000488
2 pulmonary embolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002204
3 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
4 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
5 abnormality of the cerebral vasculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0100659
6 purpura 59 32 hallmark (90%) Very frequent (99-80%) HP:0000979
7 arterial thrombosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004420
8 venous insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0005293
9 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
10 gangrene 59 32 occasional (7.5%) Occasional (29-5%) HP:0100758
11 thrombophlebitis 59 32 frequent (33%) Frequent (79-30%) HP:0004418
12 deep venous thrombosis 59 32 frequent (33%) Frequent (79-30%) HP:0002625
13 aplasia/hypoplasia of the skin 59 Frequent (79-30%)
14 subcutaneous hemorrhage 59 Frequent (79-30%)

Drugs & Therapeutics for Severe Hereditary Thrombophilia Due to Congenital Protein S...

Search Clinical Trials , NIH Clinical Center for Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency

Genetic Tests for Severe Hereditary Thrombophilia Due to Congenital Protein S...

Anatomical Context for Severe Hereditary Thrombophilia Due to Congenital Protein S...

MalaCards organs/tissues related to Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency:

41
Skin, Bone

Publications for Severe Hereditary Thrombophilia Due to Congenital Protein S...

Variations for Severe Hereditary Thrombophilia Due to Congenital Protein S...

Expression for Severe Hereditary Thrombophilia Due to Congenital Protein S...

Search GEO for disease gene expression data for Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency.

Pathways for Severe Hereditary Thrombophilia Due to Congenital Protein S...

GO Terms for Severe Hereditary Thrombophilia Due to Congenital Protein S...

Sources for Severe Hereditary Thrombophilia Due to Congenital Protein S...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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