THPH6
MCID: THR088
MIFTS: 20

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 58 76 30 13 6 41 74
Thph6 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
thrombophilia due to protein s deficiency, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

OMIM : 58 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 : 76 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 11.2

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

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

33 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 blindness 33 HP:0000618
2 hypercoagulability 33 HP:0100724
3 pulmonary embolism 33 HP:0002204
4 purpura 33 HP:0000979
5 arterial thrombosis 33 HP:0004420
6 cerebral hemorrhage 33 HP:0001342
7 disseminated intravascular coagulation 33 HP:0005521
8 superficial thrombophlebitis 33 HP:0002638
9 cerebral venous thrombosis 33 HP:0005305
10 reduced protein s activity 33 HP:0004855

Symptoms via clinical synopsis from OMIM:

58
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 30 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:

42
Skin

Publications for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

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

(showing 3, show less)
# Title Authors Year
1
Intracerebral mass bleeding in a term neonate: manifestation of hereditary protein S deficiency with a new mutation in the PROS1 gene. ( 20484936 )
2010
2
Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency. ( 10063989 )
1999
3
Homozygous protein S deficiency in an infant with purpura fulminans. ( 2231208 )
1990

Variations for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

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

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

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

6 (showing 70, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 PROS1 NM_000313.3(PROS1): c.1501T> C (p.Ser501Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs121918472 GRCh37 Chromosome 3, 93598150: 93598150
2 PROS1 NM_000313.3(PROS1): c.1501T> C (p.Ser501Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs121918472 GRCh38 Chromosome 3, 93879306: 93879306
3 PROS1 PROS1, 1-BP INS, 146A insertion Pathogenic
4 PROS1 PROS1, ARG410TER undetermined variant Pathogenic
5 PROS1 NM_000313.3(PROS1): c.701A> G (p.Tyr234Cys) single nucleotide variant Pathogenic rs387906675 GRCh37 Chromosome 3, 93619674: 93619674
6 PROS1 NM_000313.3(PROS1): c.701A> G (p.Tyr234Cys) single nucleotide variant Pathogenic rs387906675 GRCh38 Chromosome 3, 93900830: 93900830
7 PROS1 NM_000313.3(PROS1): c.1762A> G (p.Thr588Ala) single nucleotide variant Benign rs142846443 GRCh37 Chromosome 3, 93595918: 93595918
8 PROS1 NM_000313.3(PROS1): c.1762A> G (p.Thr588Ala) single nucleotide variant Benign rs142846443 GRCh38 Chromosome 3, 93877074: 93877074
9 PROS1 NM_000313.3(PROS1): c.1528G> A (p.Val510Met) single nucleotide variant Benign rs138925964 GRCh37 Chromosome 3, 93598123: 93598123
10 PROS1 NM_000313.3(PROS1): c.1528G> A (p.Val510Met) single nucleotide variant Benign rs138925964 GRCh38 Chromosome 3, 93879279: 93879279
11 PROS1 NM_000313.3(PROS1): c.698G> A (p.Arg233Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs41267007 GRCh37 Chromosome 3, 93619677: 93619677
12 PROS1 NM_000313.3(PROS1): c.698G> A (p.Arg233Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs41267007 GRCh38 Chromosome 3, 93900833: 93900833
13 PROS1 NM_000313.3(PROS1): c.1247C> T (p.Pro416Leu) single nucleotide variant Uncertain significance rs565325519 GRCh38 Chromosome 3, 93886412: 93886412
14 PROS1 NM_000313.3(PROS1): c.1247C> T (p.Pro416Leu) single nucleotide variant Uncertain significance rs565325519 GRCh37 Chromosome 3, 93605256: 93605256
15 PROS1 NM_000313.3(PROS1): c.1183A> G (p.Ile395Val) single nucleotide variant Uncertain significance rs368987511 GRCh37 Chromosome 3, 93605320: 93605320
16 PROS1 NM_000313.3(PROS1): c.1183A> G (p.Ile395Val) single nucleotide variant Uncertain significance rs368987511 GRCh38 Chromosome 3, 93886476: 93886476
17 PROS1 NM_000313.3(PROS1): c.967delTinsGG (p.Phe323Glyfs) indel Pathogenic rs863224838 GRCh37 Chromosome 3, 93611965: 93611965
18 PROS1 NM_000313.3(PROS1): c.967delTinsGG (p.Phe323Glyfs) indel Pathogenic rs863224838 GRCh38 Chromosome 3, 93893121: 93893121
19 PROS1 NM_000313.3(PROS1): c.233C> T (p.Thr78Met) single nucleotide variant Likely pathogenic rs6122 GRCh38 Chromosome 3, 93927251: 93927251
20 PROS1 NM_000313.3(PROS1): c.233C> T (p.Thr78Met) single nucleotide variant Likely pathogenic rs6122 GRCh37 Chromosome 3, 93646095: 93646095
21 PROS1 NM_000313.3(PROS1): c.76+7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201928951 GRCh38 Chromosome 3, 93973667: 93973667
22 PROS1 NM_000313.3(PROS1): c.76+7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201928951 GRCh37 Chromosome 3, 93692511: 93692511
23 PROS1 NM_000313.3(PROS1): c.1816G> A (p.Val606Ile) single nucleotide variant Uncertain significance rs371885410 GRCh38 Chromosome 3, 93877020: 93877020
24 PROS1 NM_000313.3(PROS1): c.1816G> A (p.Val606Ile) single nucleotide variant Uncertain significance rs371885410 GRCh37 Chromosome 3, 93595864: 93595864
25 PROS1 NM_000313.3(PROS1): c.1681C> T (p.Arg561Trp) single nucleotide variant Uncertain significance rs121918476 GRCh38 Chromosome 3, 93877155: 93877155
26 PROS1 NM_000313.3(PROS1): c.1681C> T (p.Arg561Trp) single nucleotide variant Uncertain significance rs121918476 GRCh37 Chromosome 3, 93595999: 93595999
27 PROS1 NM_000313.3(PROS1): c.1377A> G (p.Gly459=) single nucleotide variant Conflicting interpretations of pathogenicity rs371312357 GRCh38 Chromosome 3, 93884843: 93884843
28 PROS1 NM_000313.3(PROS1): c.1377A> G (p.Gly459=) single nucleotide variant Conflicting interpretations of pathogenicity rs371312357 GRCh37 Chromosome 3, 93603687: 93603687
29 PROS1 NM_000313.3(PROS1): c.119G> T (p.Arg40Leu) single nucleotide variant Benign/Likely benign rs7614835 GRCh38 Chromosome 3, 93927365: 93927365
30 PROS1 NM_000313.3(PROS1): c.119G> T (p.Arg40Leu) single nucleotide variant Benign/Likely benign rs7614835 GRCh37 Chromosome 3, 93646209: 93646209
31 PROS1 NM_000313.3(PROS1): c.1032C> T (p.Ile344=) single nucleotide variant Benign/Likely benign rs78449232 GRCh38 Chromosome 3, 93893056: 93893056
32 PROS1 NM_000313.3(PROS1): c.1032C> T (p.Ile344=) single nucleotide variant Benign/Likely benign rs78449232 GRCh37 Chromosome 3, 93611900: 93611900
33 PROS1 NC_000003.12: g.(?_93879163)_(93879314_?)del deletion Pathogenic GRCh38 Chromosome 3, 93879163: 93879314
34 PROS1 NC_000003.12: g.(?_93879163)_(93879314_?)del deletion Pathogenic GRCh37 Chromosome 3, 93598007: 93598158
35 PROS1 NM_000313.3(PROS1): c.1902C> T (p.Ala634=) single nucleotide variant Likely benign rs751777823 GRCh37 Chromosome 3, 93593218: 93593218
36 PROS1 NM_000313.3(PROS1): c.1902C> T (p.Ala634=) single nucleotide variant Likely benign rs751777823 GRCh38 Chromosome 3, 93874374: 93874374
37 PROS1 NM_000313.3(PROS1): c.204C> G (p.Ala68=) single nucleotide variant Likely benign rs1060504812 GRCh37 Chromosome 3, 93646124: 93646124
38 PROS1 NM_000313.3(PROS1): c.204C> G (p.Ala68=) single nucleotide variant Likely benign rs1060504812 GRCh38 Chromosome 3, 93927280: 93927280
39 PROS1 NM_000313.3(PROS1): c.149A> C (p.Lys50Thr) single nucleotide variant Uncertain significance rs745579260 GRCh37 Chromosome 3, 93646179: 93646179
40 PROS1 NM_000313.3(PROS1): c.149A> C (p.Lys50Thr) single nucleotide variant Uncertain significance rs745579260 GRCh38 Chromosome 3, 93927335: 93927335
41 PROS1 NM_000313.3(PROS1): c.234+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs187264712 GRCh37 Chromosome 3, 93646089: 93646089
42 PROS1 NM_000313.3(PROS1): c.234+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs187264712 GRCh38 Chromosome 3, 93927245: 93927245
43 PROS1 NC_000003.12: g.(?_93874239)_(94053268_?)del deletion Pathogenic GRCh37 Chromosome 3, 93593083: 93772112
44 PROS1 NC_000003.12: g.(?_93874239)_(94053268_?)del deletion Pathogenic GRCh38 Chromosome 3, 93874239: 94053268
45 PROS1 NM_000313.3(PROS1): c.1713A> G (p.Gln571=) single nucleotide variant Benign rs571916140 GRCh37 Chromosome 3, 93595967: 93595967
46 PROS1 NM_000313.3(PROS1): c.1713A> G (p.Gln571=) single nucleotide variant Benign rs571916140 GRCh38 Chromosome 3, 93877123: 93877123
47 PROS1 NM_001314077.1(PROS1): c.2087dup (p.His696Glnfs) duplication Uncertain significance rs1553808038 GRCh37 Chromosome 3, 93593129: 93593129
48 PROS1 NM_001314077.1(PROS1): c.2087dup (p.His696Glnfs) duplication Uncertain significance rs1553808038 GRCh38 Chromosome 3, 93874285: 93874285
49 PROS1 NM_000313.3(PROS1): c.677G> A (p.Cys226Tyr) single nucleotide variant Uncertain significance rs1553810751 GRCh37 Chromosome 3, 93619698: 93619698
50 PROS1 NM_000313.3(PROS1): c.677G> A (p.Cys226Tyr) single nucleotide variant Uncertain significance rs1553810751 GRCh38 Chromosome 3, 93900854: 93900854
51 PROS1 NM_000313.3(PROS1): c.1644+2_1644+3insTT insertion Uncertain significance rs1218619325 GRCh37 Chromosome 3, 93598004: 93598005
52 PROS1 NM_000313.3(PROS1): c.1644+2_1644+3insTT insertion Uncertain significance rs1218619325 GRCh38 Chromosome 3, 93879160: 93879161
53 PROS1 NM_000313.3(PROS1): c.1506T> C (p.Ser502=) single nucleotide variant Likely benign rs1254236549 GRCh38 Chromosome 3, 93879301: 93879301
54 PROS1 NM_000313.3(PROS1): c.1506T> C (p.Ser502=) single nucleotide variant Likely benign rs1254236549 GRCh37 Chromosome 3, 93598145: 93598145
55 PROS1 NM_000313.3(PROS1): c.227C> T (p.Pro76Leu) single nucleotide variant Benign rs73846070 GRCh38 Chromosome 3, 93927257: 93927257
56 PROS1 NM_000313.3(PROS1): c.227C> T (p.Pro76Leu) single nucleotide variant Benign rs73846070 GRCh37 Chromosome 3, 93646101: 93646101
57 PROS1 NM_000313.3(PROS1): c.1998T> A (p.Cys666Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 93593122: 93593122
58 PROS1 NM_000313.3(PROS1): c.1998T> A (p.Cys666Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 93874278: 93874278
59 PROS1 NM_000313.3(PROS1): c.1084C> A (p.Gln362Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 93611848: 93611848
60 PROS1 NM_000313.3(PROS1): c.1084C> A (p.Gln362Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 93893004: 93893004
61 PROS1 NM_000313.3(PROS1): c.252delA (p.Lys84Asnfs) deletion Pathogenic GRCh37 Chromosome 3, 93643091: 93643091
62 PROS1 NM_000313.3(PROS1): c.252delA (p.Lys84Asnfs) deletion Pathogenic GRCh38 Chromosome 3, 93924247: 93924247
63 PROS1 NM_000313.3(PROS1): c.77-1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 3, 93646252: 93646252
64 PROS1 NM_000313.3(PROS1): c.77-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 3, 93927408: 93927408
65 PROS1 NM_000313.3(PROS1): c.2018C> A (p.Thr673Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 93874258: 93874258
66 PROS1 NM_000313.3(PROS1): c.2018C> A (p.Thr673Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 93593102: 93593102
67 PROS1 NM_000313.3(PROS1): c.1454A> C (p.Tyr485Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 93884766: 93884766
68 PROS1 NM_000313.3(PROS1): c.1454A> C (p.Tyr485Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 93603610: 93603610
69 PROS1 NM_000313.3(PROS1): c.664G> C (p.Gly222Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 93619711: 93619711
70 PROS1 NM_000313.3(PROS1): c.664G> C (p.Gly222Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 93900867: 93900867

Expression for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

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Pathways for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

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

Sources for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

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