THPH4
MCID: THR068
MIFTS: 26

Thrombophilia Due to Protein C Deficiency, Autosomal Recessive (THPH4) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Blood diseases

Aliases & Classifications for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

About this section

Aliases & Descriptions for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:

Name: Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 52 48 70 12 68
Autosomal Recessive Hereditary Thrombophilia Due to Protein C Deficiency 48 27
Hereditary Thrombophilia Due to Congenital Protein C Deficiency 48 54
Hereditary Thrombophilia Due to Pc Deficiency 48 54
 
Protein C Deficiency Autosomal Recessive 70
Autosomal Recessive Protein C Deficiency 48
Proc Deficiency Autosomal Recessive 70
Thph4 70

Characteristics:

Orphanet epidemiological data:

54
hereditary thrombophilia due to congenital protein c deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

64
thrombophilia due to protein c deficiency, autosomal recessive:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 612304
Orphanet54 ORPHA745
ICD10 via Orphanet31 D68.2
MedGen37 C2676759

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

About this section
NIH Rare Diseases:48 Autosomal recessive protein c deficiency is an inherited coagulation disorder characterized by serious protein c deficiency. the disease may be very severe, and can be associated with a condition known as neonatal purpura fulminans (npf) or intracranial thromboembolism, or be a milder disorder with late-onset thrombophilia where some patients present with venous thromboembolism (vte) in childhood, adolescence or adulthood.  it is caused when people have two identical mutations on both copies (alleles) of the proc gene (homozygous) or when both alleles of the gene have mutations, but the mutations are different (compound heterozygous). the inheritance is autosomal recessive. treatment depends on the severity of the disease and may involve fresh frozen plasma, highly purified protein c concentrate (ceprotin), anticoagulation and/or fibrinolytic medication and, in some cases, liver donor liver transplantation which cures the disease. last updated: 6/7/2016

MalaCards based summary: Thrombophilia Due to Protein C Deficiency, Autosomal Recessive, also known as autosomal recessive hereditary thrombophilia due to protein c deficiency, is related to protein c deficiency and thrombophilia due to thrombin defect, and has symptoms including seizures, seizures and Array. An important gene associated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive is PROC (Protein C, Inactivator Of Coagulation Factors Va And VIIIa). Affiliated tissues include liver, skin and bone.

OMIM:52 Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a... (612304) more...

UniProtKB/Swiss-Prot:70 Thrombophilia due to protein C deficiency, autosomal recessive: A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare.

Related Diseases for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

About this section

Diseases related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1protein c deficiency10.9
2thrombophilia due to thrombin defect10.9

Symptoms & Phenotypes for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

About this section

Symptoms by clinical synopsis from OMIM:

612304

Clinical features from OMIM:

612304

Human phenotypes related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:

 54 64 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin64 54 Frequent (79-30%) HP:0000963
2 purpura64 54 Frequent (79-30%) HP:0000979
3 abnormality of skin pigmentation64 54 Occasional (29-5%) HP:0001000
4 warfarin-induced skin necrosis64 54 Occasional (29-5%) HP:0001038
5 pulmonary embolism64 54 Occasional (29-5%) HP:0002204
6 venous thrombosis64 54 Frequent (79-30%) HP:0004936
7 venous insufficiency64 54 Occasional (29-5%) HP:0005293
8 aplasia/hypoplasia of the skin54 Frequent (79-30%)
9 abnormality of the cerebral vasculature64 54 Occasional (29-5%) HP:0100659
10 gangrene64 54 Occasional (29-5%) HP:0100758
11 seizures64 HP:0001250
12 global developmental delay64 HP:0001263
13 deep venous thrombosis64 HP:0002625
14 superficial thrombophlebitis64 HP:0002638
15 reduced protein c activity64 HP:0005543
16 vitreous hemorrhage64 HP:0007902
17 hypercoagulability64 HP:0100724

UMLS symptoms related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:


seizures

Drugs & Therapeutics for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

Genetic Tests for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

About this section

Genetic tests related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Recessive27

Anatomical Context for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

About this section

MalaCards organs/tissues related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:

36
Liver, Skin, Bone

Publications for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

About this section

Variations for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

About this section

UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:

70
id Symbol AA change Variation ID SNP ID
1PROCp.Ala178ProVAR_006660
2PROCp.Pro289LeuVAR_006679rs121918151
3PROCp.Arg328HisVAR_006690
4PROCp.Gly334SerVAR_006691rs121918150
5PROCp.Val367AlaVAR_006695rs767730328
6PROCp.Gly418AspVAR_006703
7PROCp.Asp77GlyVAR_073145
8PROCp.Ala163GluVAR_073146

Clinvar genetic disease variations for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1PROCPROC, ARG12TRPundetermined variantPathogenic
2PROCNM_ 000312.3(PROC): c.631C> T (p.Arg211Trp)SNVPathogenic/ Likely pathogenicrs121918143GRCh37Chr 2, 128183756: 128183756
3PROCNM_ 000312.3(PROC): c.902C> T (p.Ala301Val)SNVPathogenicrs121918144GRCh37Chr 2, 128186038: 128186038
4PROCNM_ 000312.3(PROC): c.629C> T (p.Pro210Leu)SNVPathogenicrs121918145GRCh37Chr 2, 128183754: 128183754
5PROCNM_ 000312.3(PROC): c.925G> A (p.Ala309Thr)SNVPathogenicrs121918146GRCh37Chr 2, 128186061: 128186061
6PROCNM_ 000312.3(PROC): c.1027G> A (p.Gly343Ser)SNVPathogenicrs121918147GRCh37Chr 2, 128186163: 128186163
7PROCNM_ 000312.3(PROC): c.185A> C (p.Glu62Ala)SNVPathogenicrs121918148GRCh37Chr 2, 128178973: 128178973
8PROCNM_ 000312.3(PROC): c.226G> A (p.Val76Met)SNVPathogenicrs121918149GRCh37Chr 2, 128179014: 128179014
9PROCNM_ 000312.3(PROC): c.1000G> A (p.Gly334Ser)SNVPathogenicrs121918150GRCh37Chr 2, 128186136: 128186136
10PROCNM_ 000312.3(PROC): c.866C> T (p.Pro289Leu)SNVPathogenicrs121918151GRCh37Chr 2, 128186002: 128186002
11PROCNM_ 000312.3(PROC): c.793C> T (p.Leu265Phe)SNVPathogenicrs121918156GRCh37Chr 2, 128184795: 128184795
12PROCNM_ 000312.3(PROC): c.1335C> G (p.Ile445Met)SNVPathogenicrs121918157GRCh37Chr 2, 128186471: 128186471

Expression for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

About this section
Search GEO for disease gene expression data for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive.

Pathways for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

About this section

GO Terms for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

About this section

Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet