Entry Search - 188055 612309 - OMIM
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Search: '188055 612309 (Search in: MIM number)'
Results: 2 entries.

1:
* 612309. COAGULATION FACTOR V; F5
FACTOR V LEIDEN, INCLUDED
Cytogenetic location: 1q24.2, Genomic coordinates (GRCh38): 1:169,511,951-169,586,481
Matching terms: 612309
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1q24.2 {Budd-Chiari syndrome} 600880 AR 3
{Pregnancy loss, recurrent, susceptibility to, 1} 614389 AD 3
{Stroke, ischemic, susceptibility to} 601367 Mu 3
{Thrombophilia, susceptibility to, due to factor V Leiden} 188055 AD 3
Factor V deficiency 227400 AR 3
Thrombophilia 2 due to activated protein C resistance 188055 AD 3
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ICD+
SNOMEDCT: 4320005
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2:
# 188055. THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2
THROMBOPHILIA DUE TO FACTOR V LEIDEN, INCLUDED
Cytogenetic locations: 1q24.2,
Matching terms: 188055
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
1q24.2 Thrombophilia 2 due to activated protein C resistance 188055 AD 3 F5 612309
1q24.2 {Thrombophilia, susceptibility to, due to factor V Leiden} 188055 AD 3 F5 612309
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Thrombophilia - PS188050 - 17 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.22 {Thromboembolism, susceptibility to} AD 3 188050 MTHFR 607093
1q24.2 Thrombophilia 2 due to activated protein C resistance AD 3 188055 F5 612309
1q24.2 {Thrombophilia, susceptibility to, due to factor V Leiden} AD 3 188055 F5 612309
1q25.1 Thrombophilia 7 due to antithrombin III deficiency AD, AR 3 613118 SERPINC1 107300
2q14.3 Thrombophilia 3 due to protein C deficiency, autosomal dominant AD 3 176860 PROC 612283
2q14.3 Thrombophilia 3 due to protein C deficiency, autosomal recessive AR 3 612304 PROC 612283
3q11.1 Thrombophilia 5 due to protein S deficiency, autosomal dominant AD 3 612336 PROS1 176880
3q11.1 Thrombophilia 5 due to protein S deficiency, autosomal recessive AR 3 614514 PROS1 176880
3q27.3 Thrombophilia 11 due to HRG deficiency AD 3 613116 HRG 142640
6p25.1 {Venous thrombosis, protection against} AD 3 188050 F13A1 134570
8p12 ?Thrombophilia 9 due to decreased release of tissue plasminogen 2 612348 THPH9 612348
10q25.3 {Venous thromboembolism, susceptibility to} AD 3 188050 HABP2 603924
11p11.2 Thrombophilia 1 due to thrombin defect AD 3 188050 F2 176930
20p11.21 Thrombophilia 12 due to thrombomodulin defect AD 3 614486 THBD 188040
22q11.21 Thrombophilia 10 due to heparin cofactor II deficiency AD 3 612356 HCF2 142360
Xq27.1 Thrombophilia 8, X-linked, due to factor IX defect XLR 3 300807 F9 300746
Xq27.1 {Deep venous thrombosis, protection against} XLR 3 300807 F9 300746
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ICD+
ICD10CM: D68.51
DO: 0111902
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Search: 188055 612309 (Search in: MIM number)
Results: 2 entries.

1:
* 612309. COAGULATION FACTOR V; F5
FACTOR V LEIDEN, INCLUDED
Cytogenetic location: 1q24.2, Genomic coordinates (GRCh38): 1:169,511,951-169,586,481
Matching terms: 612309

2:
# 188055. THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2
THROMBOPHILIA DUE TO FACTOR V LEIDEN, INCLUDED
Cytogenetic locations: 1q24.2,
Matching terms: 188055


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025