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1.

Thrombosis

Formation and development of a thrombus or blood clot in the blood vessel. [from MeSH]

MedGen UID:
21160
Concept ID:
C0040053
Pathologic Function
2.

Thrombophilia

Prothrombin-related thrombophilia is characterized by venous thromboembolism (VTE) manifest most commonly in adults as deep-vein thrombosis (DVT) in the legs or pulmonary embolism. The clinical expression of prothrombin-related thrombophilia is variable; many individuals heterozygous or homozygous for the 20210G>A (G20210A or c.*97G>A) allele in F2 never develop thrombosis, and while most heterozygotes who develop thrombotic complications remain asymptomatic until adulthood, some have recurrent thromboembolism before age 30 years. The relative risk for DVT in adults heterozygous for the 20210G>A allele is two- to fivefold increased; in children, the relative risk for thrombosis is three- to fourfold increased. 20210G>A heterozygosity has at most a modest effect on recurrence risk after a first episode. Although prothrombin-related thrombophilia may increase the risk for pregnancy loss, its association with preeclampsia and other complications of pregnancy such as intrauterine growth restriction and placental abruption remains controversial. Factors that predispose to thrombosis in prothrombin-related thrombophilia include: the number of 20210G>A alleles; presence of coexisting genetic abnormalities including factor V Leiden; and acquired thrombophilic disorders (e.g., antiphospholipid antibodies). Circumstantial risk factors for thrombosis include pregnancy and oral contraceptive use. Some evidence suggests that the risk for VTE in 20210G>A heterozygotes increases after travel. [from GTR]

MedGen UID:
98306
Concept ID:
C0398623
Disease or Syndrome
3.

Multiple endocrine neoplasia, type 1

Multiple endocrine neoplasia type 1 (MEN1) syndrome includes varying combinations of more than 20 endocrine and non-endocrine tumors. Endocrine tumors become evident by overproduction of hormones by the tumor or by growth of the tumor itself. Parathyroid tumors are the main MEN1-associated endocrinopathy; onset in 90% of individuals is between ages 20 and 25 years with hypercalcemia evident by age 50 years; hypercalcemia causes lethargy, depression, confusion, anorexia, constipation, nausea, vomiting, diuresis, dehydration, hypercalciuria, kidney stones, increased bone resorption/fracture risk, hypertension, and shortened QT interval. Pituitary tumors include prolactinoma (the most common) which manifests as oligomenorrhea/amenorrhea and galactorrhea in females and sexual dysfunction in males. Well-differentiated endocrine tumors of the gastro-entero-pancreatic (GEP) tract can manifest as Zollinger-Ellison syndrome (gastrinoma); hypoglycemia (insulinoma); hyperglycemia, anorexia, glossitis, anemia, diarrhea, venous thrombosis, and skin rash (glucagonoma); and watery diarrhea, hypokalemia, and achlorhydria syndrome (vasoactive intestinal peptide [VIP]-secreting tumor). Carcinoid tumors are non-hormone-secreting and can manifest as a large mass after age 50 years. Adrenocortical tumors can be associated with primary hypercortisolism or hyperaldosteronism. Non-endocrine tumors include facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, and leiomyomas. [from GTR]

MedGen UID:
9957
Concept ID:
C0025267
Neoplastic Process
4.

Abnormal thrombosis

Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). [from HPO]

MedGen UID:
505035
Concept ID:
CN001789
Finding
5.

Recurrent thrombophlebitis

Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). [from HPO]

MedGen UID:
763064
Concept ID:
C3550150
Finding
6.

Carbohydrate-deficient glycoprotein syndrome type I

PMM2-CDG (CDG-Ia) (previously known as congenital disorder of glycosylation type 1a), the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three types: infantile multisystem, late-infantile and childhood ataxia-intellectual disability, and adult stable disability. The three types notwithstanding, clinical presentation and course are highly variable, ranging from infants who die in the first year of life to mildly involved adults. Clinical presentations tend to be similar in sibs. In the infantile multisystem type, infants show axial hypotonia, hyporeflexia, esotropia, and developmental delay. Feeding problems, vomiting, failure to thrive, and impaired growth are frequently seen. Subcutaneous fat may be excessive over the buttocks and suprapubic region. Two distinct clinical presentations are observed: (1) a non-fatal neurologic form with strabismus, psychomotor retardation, and cerebellar hypoplasia in infancy followed by neuropathy and retinitis pigmentosa in the first or second decade and (2) a neurologic-multivisceral form with approximately 20% mortality in the first year of life. The late-infantile and childhood ataxia-intellectual disability type, with onset between age three and ten years, is characterized by hypotonia, ataxia, severely delayed language and motor development, inability to walk, and IQ of 40 to 70; other findings include seizures, stroke-like episodes or transient unilateral loss of function, retinitis pigmentosa, joint contractures, and skeletal deformities. In the adult stable disability type, intellectual ability is stable; peripheral neuropathy is variable, thoracic and spinal deformities progress, and premature aging is observed; females lack secondary sexual development and males may exhibit decreased testicular volume. Hyperglycemia-induced growth hormone release, hyperprolactinemia, insulin resistance, and coagulopathy may occur. An increased risk for deep venous thrombosis is present. [from GTR]

MedGen UID:
138111
Concept ID:
C0349653
Disease or Syndrome
7.

Thrombophilia due to activated protein C resistance

Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk for venous thromboembolism (VTE). Deep venous thrombosis (DVT) is the most common VTE, with the legs being the most common site. Thrombosis in unusual locations is less common. Evidence suggests that a heterozygous factor V Leiden mutation has at most a modest effect on recurrence risk after initial treatment of a first VTE. Heterozygosity for factor V Leiden is associated with a two- to threefold increase in relative risk for pregnancy loss, and possibly other pregnancy complications such as preeclampsia, fetal growth retardation, and placental abruption. The clinical expression of factor V Leiden thrombophilia is influenced by: The number of factor V Leiden alleles (heterozygotes have a slightly increased risk for venous thrombosis; homozygotes have a much greater thrombotic risk); Coexisting genetic thrombophilic disorders, which have a supra-additive effect on overall thrombotic risk; Acquired thrombophilic disorders: antiphospholipid antibodies, hyperhomocysteinemia, high factor VIII levels, malignancy; and Circumstantial risk factors: travel, central venous catheters, pregnancy, oral contraceptive use, hormone replacement therapy (HRT), selective estrogen receptor modulators (SERMs), organ transplantation, advancing age, and surgery. [from GTR]

MedGen UID:
396074
Concept ID:
C1861171
Disease or Syndrome
8.

CTCAE Grade 3 Thrombosis or Thrombus or Embolism

Deep vein thrombosis or cardiac thrombosis; intervention (e.g., anticoagulation, lysis, filter, invasive procedure) indicated [from NCI_CTCAE]

MedGen UID:
281978
Concept ID:
C1558973
Finding
9.

Proteus syndrome

Proteus syndrome is characterized by progressive, segmental or patchy overgrowth of diverse tissues of all germ layers, most commonly affecting the skeleton, skin, and adipose and central nervous systems. In most individuals Proteus syndrome has minimal or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism. [from GTR]

MedGen UID:
39008
Concept ID:
C0085261
Neoplastic Process
10.

CTCAE Grade 2 Thrombosis or Thrombus or Embolism

Deep vein thrombosis or cardiac thrombosis; intervention (e.g., anticoagulation, lysis, filter, invasive procedure) not indicated [from NCI_CTCAE]

MedGen UID:
281977
Concept ID:
C1558972
Finding
11.

Thromboembolism

The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. [from HPO]

MedGen UID:
505000
Concept ID:
CN001725
Finding
12.

CTCAE Grade 3 Thrombosis or Embolism Vascular Access Related

Deep vein thrombosis or cardiac thrombosis; intervention (e.g., anticoagulation, lysis, filter, invasive procedure) indicated [from NCI_CTCAE]

MedGen UID:
281975
Concept ID:
C1558968
Finding
13.

CTCAE Grade 2 Thrombosis or Embolism Vascular Access Related

Deep vein thrombosis or cardiac thrombosis; intervention (e.g., anticoagulation, lysis, filter, invasive procedure) not indicated [from NCI_CTCAE]

MedGen UID:
286469
Concept ID:
C1558967
Finding
14.
15.

Cerebral thrombosis (rare)

MedGen UID:
862397
Concept ID:
C4013960
Finding
16.

Thrombosis of truncal valve

MedGen UID:
758943
Concept ID:
C3531829
Finding
17.

Thrombosis of aortic valve

MedGen UID:
758939
Concept ID:
C3531825
Finding
18.

Thrombosis of pulmonary valve

MedGen UID:
758932
Concept ID:
C3531818
Finding
19.

Thrombosis of mitral valve

MedGen UID:
758930
Concept ID:
C3531816
Finding
20.

No FH: Venous thrombosis

MedGen UID:
700397
Concept ID:
C1277316
Finding
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