THPH6
MCID: THR088
MIFTS: 25

Thrombophilia Due to Protein S Deficiency, Autosomal Recessive (THPH6)

Categories: Blood diseases, Genetic diseases, Rare diseases

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

MalaCards integrated aliases for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive:

Name: Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 56 73 29 13 6 39 71
Thph6 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or childhood
increased abortuses of homozygous or compound heterozygous fetuses
secondary hemorrhage


HPO:

31
thrombophilia due to protein s deficiency, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 614514
OMIM Phenotypic Series 56 PS188050
MeSH 43 D018455
MedGen 41 C3281092
UMLS 71 C3281092

Summaries for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

OMIM : 56 Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage (Pung-amritt et al., 1999; Fischer et al., 2010), whereas others have recurrent thromboses later in childhood (Comp et al., 1984). See also autosomal dominant thrombophilia due to protein S deficiency (THPH5; 612336), a less severe disorder caused by heterozygous mutation in the PROS1 gene. (614514)

MalaCards based summary : Thrombophilia Due to Protein S Deficiency, Autosomal Recessive, also known as thph6, is related to thrombophilia due to protein s deficiency, autosomal dominant. An important gene associated with Thrombophilia Due to Protein S Deficiency, Autosomal Recessive is PROS1 (Protein S). Affiliated tissues include skin, and related phenotypes are blindness and hypercoagulability

UniProtKB/Swiss-Prot : 73 Thrombophilia due to protein S deficiency, autosomal recessive: A very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage.

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

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

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 thrombophilia due to protein s deficiency, autosomal dominant 11.3

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

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

31 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 hypercoagulability 31 HP:0100724
3 pulmonary embolism 31 HP:0002204
4 purpura 31 HP:0000979
5 arterial thrombosis 31 HP:0004420
6 cerebral hemorrhage 31 HP:0001342
7 disseminated intravascular coagulation 31 HP:0005521
8 superficial thrombophlebitis 31 HP:0002638
9 cerebral venous thrombosis 31 HP:0005305
10 reduced protein s activity 31 HP:0004855

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
blindness
retinal thrombosis
impaired retinal vasculogenesis

Cardiovascular Vascular:
arterial thrombosis
superficial thrombophlebitis
cerebral venous thrombosis
venous thrombosis, recurrent
mesenteric thrombosis
more
Skin Nails Hair Skin:
neonatal purpura fulminans
skin necrosis

Respiratory Lung:
pulmonary embolism

Laboratory Abnormalities:
disseminated intravascular coagulation
absent/reduced free proteins and absent total protein s

Clinical features from OMIM:

614514

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

Search Clinical Trials , NIH Clinical Center for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

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

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

# Genetic test Affiliating Genes
1 Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 29 PROS1

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

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

40
Skin

Publications for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

Articles related to Thrombophilia Due to Protein S Deficiency, Autosomal Recessive:

(showing 7, show less)
# Title Authors PMID Year
1
Intracerebral mass bleeding in a term neonate: manifestation of hereditary protein S deficiency with a new mutation in the PROS1 gene. 56 6
20484936 2010
2
Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency. 56 6
10063989 1999
3
Homozygous protein S deficiency in an infant with purpura fulminans. 56 6
2231208 1990
4
Vitreoretinal findings similar to retinopathy of prematurity in infants with compound heterozygous protein S deficiency. 56
10442899 1999
5
[Venous thromboembolic disease in children related to transient protein S deficiency following varicella]. 56
7899424 1995
6
Inherited deficiency of protein S in a Japanese family with recurrent venous thrombosis: a study of three generations. 56
2935209 1986
7
Familial protein S deficiency is associated with recurrent thrombosis. 56
6239877 1984

Variations for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

ClinVar genetic disease variations for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive:

6 (showing 30, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PROS1 NM_001314077.1(PROS1):c.1063delinsGG (p.Phe355fs)indel Pathogenic 216868 rs863224838 3:93611965-93611965 3:93893121-93893121
2 PROS1 PROS1, 1-BP INS, 146Ainsertion Pathogenic 29847
3 PROS1 PROS1, ARG410TERundetermined variant Pathogenic 29848
4 PROS1 NM_001314077.1(PROS1):c.797A>G (p.Tyr266Cys)SNV Pathogenic 29849 rs387906675 3:93619674-93619674 3:93900830-93900830
5 PROS1 NC_000003.11:g.(?_93598007)_(93598158_?)deldeletion Pathogenic 417527 3:93598007-93598158 3:93879163-93879314
6 PROS1 NM_001314077.1(PROS1):c.348del (p.Lys116fs)deletion Pathogenic 570367 rs1241365457 3:93643091-93643091 3:93924247-93924247
7 PROS1 NM_001314077.1(PROS1):c.173-1G>CSNV Pathogenic 581502 rs759677822 3:93646252-93646252 3:93927408-93927408
8 PROS1 NC_000003.11:g.(?_93593083)_(93772112_?)deldeletion Pathogenic 472995 3:93593083-93772112 3:93874239-94053268
9 PROS1 NM_001314077.1(PROS1):c.2094T>A (p.Cys698Ter)SNV Likely pathogenic 567962 rs1559926604 3:93593122-93593122 3:93874278-93874278
10 PROS1 NM_001314077.1(PROS1):c.1597T>C (p.Ser533Pro)SNV Conflicting interpretations of pathogenicity 13316 rs121918472 3:93598150-93598150 3:93879306-93879306
11 PROS1 NM_001314077.1(PROS1):c.1473A>G (p.Gly491=)SNV Conflicting interpretations of pathogenicity 346882 rs371312357 3:93603687-93603687 3:93884843-93884843
12 PROS1 NM_001314077.1(PROS1):c.329C>T (p.Thr110Met)SNV Conflicting interpretations of pathogenicity 215991 rs6122 3:93646095-93646095 3:93927251-93927251
13 PROS1 NM_001314077.1(PROS1):c.1912G>A (p.Val638Ile)SNV Uncertain significance 220400 rs371885410 3:93595864-93595864 3:93877020-93877020
14 PROS1 NM_001314077.1(PROS1):c.1777C>T (p.Arg593Trp)SNV Uncertain significance 219837 rs121918476 3:93595999-93595999 3:93877155-93877155
15 PROS1 NM_001314077.1(PROS1):c.245A>C (p.Lys82Thr)SNV Uncertain significance 410827 rs745579260 3:93646179-93646179 3:93927335-93927335
16 PROS1 NM_001314077.1(PROS1):c.1343C>T (p.Pro448Leu)SNV Uncertain significance 216419 rs565325519 3:93605256-93605256 3:93886412-93886412
17 PROS1 NM_001314077.1(PROS1):c.1279A>G (p.Ile427Val)SNV Uncertain significance 216418 rs368987511 3:93605320-93605320 3:93886476-93886476
18 PROS1 NM_001314077.1(PROS1):c.2087dup (p.His696fs)duplication Uncertain significance 472998 rs1553808038 3:93593128-93593129 3:93874284-93874285
19 PROS1 NM_001314077.1(PROS1):c.773G>A (p.Cys258Tyr)SNV Uncertain significance 472999 rs1553810751 3:93619698-93619698 3:93900854-93900854
20 PROS1 NM_001314077.1(PROS1):c.1740+2_1740+3insTTinsertion Uncertain significance 472996 rs1218619325 3:93598004-93598005 3:93879160-93879161
21 PROS1 NM_001314077.1(PROS1):c.1180C>A (p.Gln394Lys)SNV Uncertain significance 581529 rs1559931820 3:93611848-93611848 3:93893004-93893004
22 PROS1 NM_001314077.1(PROS1):c.2114C>A (p.Thr705Lys)SNV Uncertain significance 581192 rs1465989734 3:93593102-93593102 3:93874258-93874258
23 PROS1 NM_001314077.1(PROS1):c.1550A>C (p.Tyr517Ser)SNV Uncertain significance 576236 rs1323663956 3:93603610-93603610 3:93884766-93884766
24 PROS1 NM_001314077.1(PROS1):c.760G>C (p.Gly254Arg)SNV Uncertain significance 577721 rs1559933951 3:93619711-93619711 3:93900867-93900867
25 PROS1 NM_001314077.1(PROS1):c.2052T>G (p.Asp684Glu)SNV Uncertain significance 640936 3:93593164-93593164 3:93874320-93874320
26 PROS1 NM_001314077.1(PROS1):c.1082T>C (p.Phe361Ser)SNV Uncertain significance 643843 3:93611946-93611946 3:93893102-93893102
27 PROS1 NM_001314077.1(PROS1):c.720G>T (p.Lys240Asn)SNV Uncertain significance 658519 3:93619751-93619751 3:93900907-93900907
28 PROS1 NM_001314077.1(PROS1):c.356-7T>GSNV Uncertain significance 656072 3:93629556-93629556 3:93910712-93910712
29 PROS1 NM_001314077.1(PROS1):c.1602T>C (p.Ser534=)SNV Likely benign 540212 rs1254236549 3:93598145-93598145 3:93879301-93879301
30 PROS1 NM_001314077.1(PROS1):c.1809A>G (p.Gln603=)SNV Benign 472997 rs571916140 3:93595967-93595967 3:93877123-93877123

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

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 PROS1 p.Tyr234Cys VAR_067302 rs387906675

Expression for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

Search GEO for disease gene expression data for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive.

Pathways for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

GO Terms for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

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