FA11D
MCID: FCT022
MIFTS: 53

Factor Xi Deficiency, Autosomal Recessive (FA11D) malady

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Factor Xi Deficiency, Autosomal Recessive

Aliases & Descriptions for Factor Xi Deficiency, Autosomal Recessive:

Name: Factor Xi Deficiency, Autosomal Recessive 54
Factor Xi Deficiency 54 12 50 24 66 52 42 14 69
Plasma Thromboplastin Antecedent Deficiency 12 50 56 66
Hemophilia C 12 50 56 66
Congenital Factor Xi Deficiency 12 50 56
Rosenthal Factor Deficiency 50 56 66
Rosenthal Syndrome 50 56 66
Pta Deficiency 50 56 66
Factor Xi Deficiency, Autosomal Dominant 54 13
Hereditary Factor Xi Deficiency Disease 12 29
F11 Deficiency 50 66
Factor 11 Deficiency 66
Rosenthal's Disease 12
Fa11d 66

Characteristics:

Orphanet epidemiological data:

56
congenital factor xi deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

HPO:

32
factor xi deficiency, autosomal recessive:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 612416
Disease Ontology 12 DOID:2229
ICD10 33 D68.1
ICD9CM 35 286.2
MeSH 42 D005173
NCIt 47 C84705
SNOMED-CT 64 49762007
Orphanet 56 ORPHA329
ICD10 via Orphanet 34 D68.1
MedGen 40 C0015523
UMLS 69 C0015523

Summaries for Factor Xi Deficiency, Autosomal Recessive

NIH Rare Diseases : 50 factor xi deficiency is a bleeding disorder that interferes with the body's clotting process. as a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. women with factor xi deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. within affected people and their families, highly variable bleeding patterns occur, and bleeding risk can not be predicted by the level of factor xi (a clotting factor) in the blood. although the condition can affect people of all heritages, it is most common in people of ashkenazi jewish descent. most cases of factor xi deficiency are inherited and caused by changes (mutations) in the f11 gene. in most cases the condition is inherited in an autosomal recessive manner however, it may follow an autosomal dominant pattern in some families. treatment is often only recommended during periods of high bleeding risk (i.e. surgery) and may include fresh frozen plasma and/or antifibrinolytics (medications that improve blood clotting). factor xi concentrates may be available for factor replacement in some countries. last updated: 2/5/2016

MalaCards based summary : Factor Xi Deficiency, Autosomal Recessive, also known as factor xi deficiency, is related to hemarthrosis and lupus erythematosus, and has symptoms including abnormal bleeding, reduced factor xi activity and prolonged partial thromboplastin time. An important gene associated with Factor Xi Deficiency, Autosomal Recessive is F11 (Coagulation Factor XI), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Acetylcholine and Aspirin have been mentioned in the context of this disorder. Related phenotypes are cardiovascular system and homeostasis/metabolism

OMIM : 54 Factor XI deficiency is an autosomal bleeding disorder characterized by reduced levels of factor XI in plasma (less... (612416) more...

UniProtKB/Swiss-Prot : 66 Factor XI deficiency: A hemorrhagic disease characterized by reduced levels and activity of factor XI resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Patients usually do not present spontaneous bleeding but women can present with menorrhagia. Hemorrhages are usually moderate.

Wikipedia : 71 Factor XI or plasma thromboplastin antecedent is the zymogen form of factor XIa, one of the enzymes of... more...

Related Diseases for Factor Xi Deficiency, Autosomal Recessive

Diseases related to Factor Xi Deficiency, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 167)
id Related Disease Score Top Affiliating Genes
1 hemarthrosis 30.0 F2 F3
2 lupus erythematosus 29.9 F3 VWF
3 membranoproliferative glomerulonephritis 29.0 F2 F3 F8 F9 VWF
4 myocardial infarction 28.4 F11 F2 F3 F5 F7 F8
5 melkersson-rosenthal syndrome 12.5
6 orofacial granulomatosis 11.2
7 noma 10.2 F3 F9
8 arcus senilis 10.2 F11 F3
9 cheilitis 10.2
10 influenza 10.2 F2 F3
11 primary peritoneal carcinoma 10.2 F8 F9
12 chorioretinal scar 10.2 F2 F3
13 mixed hepatoblastoma 10.2 F2 F3
14 dmd-related dilated cardiomyopathy 10.2 F2 F3
15 spinal cord lipoma 10.2 F2 F3
16 sporotrichosis 10.2 F2 F3
17 midline cystocele 10.2 F2 F3
18 chronic inflammatory demyelinating polyneuritis 10.2 F2 F3
19 brain stem cancer 10.2 F2 F3
20 ductal carcinoma in situ 10.2 F2 F3
21 secretory diarrhea myopathy and deafness 10.2 F3 VWF
22 mobitz type ii atrioventricular block 10.2 F2 F3
23 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 10.2 F2 F3
24 small intestinal l-cell glucagon-like peptide producing tumor 10.2 F2 VWF
25 monocular exotropia 10.2 F3 VWF
26 social phobia 10.1 F2 F8
27 vcl-related familial hypertrophic cardiomyopathy 10.1 F8 VWF
28 vcp-related amyotrophic lateral sclerosis/frontotemporal dementia 10.1 F8 VWF
29 multiple mitochondrial dysfunctions syndrome 10.1 F3 F8
30 high anorectal malformation 10.1 F8 VWF
31 headache 10.1 F8 VWF
32 vcl-related dilated cardiomyopathy 10.1 F8 VWF
33 artery disease 10.1 F2 F3
34 red color blindness 10.1 F2 F3
35 hereditary alpha tryptasemia syndrome 10.1 F2 F3
36 porphyria 10.1 F2 F7
37 pulpitis 10.1 F2 VWF
38 septic myocarditis 10.1 F3 VWF
39 vaginal yolk sac tumor 10.1 F7 F9
40 central retinal artery occlusion 10.1 F2 F3
41 von willibrand disease, type 3 10.1 F7 VWF
42 zika virus congenital syndrome 10.1 F3 F8
43 renal adenoma 10.1 F8 VWF
44 capillary hemangioma 10.1 F2 F3
45 xerophthalmia 10.1 F2 VWF
46 prostatic cyst 10.1 F11 F8
47 retroperitoneal leiomyosarcoma 10.1 F7 F9
48 congenital insensitivity to pain with severe intellectual disability 10.0 F2 F5
49 crohn's disease 10.0
50 vascular erectile tumor 10.0 F2 F5

Graphical network of the top 20 diseases related to Factor Xi Deficiency, Autosomal Recessive:



Diseases related to Factor Xi Deficiency, Autosomal Recessive

Symptoms & Phenotypes for Factor Xi Deficiency, Autosomal Recessive

Clinical features from OMIM:

612416

Human phenotypes related to Factor Xi Deficiency, Autosomal Recessive:

32
id Description HPO Frequency HPO Source Accession
1 abnormal bleeding 32 HP:0001892
2 reduced factor xi activity 32 HP:0001929
3 prolonged partial thromboplastin time 32 HP:0003645

MGI Mouse Phenotypes related to Factor Xi Deficiency, Autosomal Recessive:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 VWF F11 F2 F3 F5 F7
2 homeostasis/metabolism MP:0005376 9.76 F11 F2 F3 F5 F7 F8
3 hematopoietic system MP:0005397 9.73 F11 F2 F3 F8 F9 VWF
4 immune system MP:0005387 9.43 VWF F11 F2 F3 F8 F9
5 mortality/aging MP:0010768 9.23 F11 F2 F3 F5 F7 F8

Drugs & Therapeutics for Factor Xi Deficiency, Autosomal Recessive

Drugs for Factor Xi Deficiency, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 199)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4 51-84-3 187
2
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
3
Acamprosate Approved, Investigational Phase 4 77337-76-9 71158
4
Ethanol Approved Phase 4 64-17-5 702
5 abobotulinumtoxinA Phase 4
6 Botulinum Toxins Phase 4
7 Botulinum Toxins, Type A Phase 4
8 Cholinergic Agents Phase 4
9 incobotulinumtoxinA Phase 4
10 Neuromuscular Agents Phase 4
11 Neurotransmitter Agents Phase 4,Phase 1,Phase 2
12 onabotulinumtoxinA Phase 4
13 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
14 Pharmaceutical Solutions Phase 4,Phase 1,Phase 2
15 Analgesics Phase 4
16 Analgesics, Non-Narcotic Phase 4
17 Anti-Inflammatory Agents Phase 4,Phase 3
18 Anti-Inflammatory Agents, Non-Steroidal Phase 4
19 Antipyretics Phase 4
20 Antirheumatic Agents Phase 4,Phase 1,Early Phase 1
21 Cyclooxygenase Inhibitors Phase 4
22 Fibrinolytic Agents Phase 4
23 Platelet Aggregation Inhibitors Phase 4
24 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Antimalarials Phase 4,Phase 3
26 Antiparasitic Agents Phase 4,Phase 3
27 Antiprotozoal Agents Phase 4,Phase 3
28 Artemisinine Phase 4,Phase 3
29 Artemisinins Phase 4,Phase 3
30
Dihydroartemisinin Phase 4 71939-50-9 6918483
31
Piperaquine Phase 4 4085-31-8 5079497
32
Amodiaquine Approved Phase 3 86-42-0 2165
33
Artemether Approved Phase 3 71963-77-4 119380 68911
34
Artesunate Approved Phase 3 88495-63-0 6917864 5464098
35
Lumefantrine Approved Phase 3 82186-77-4 6437380
36
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
37
Pyrimethamine Approved, Vet_approved Phase 3 58-14-0 4993
38
Sulfadoxine Approved Phase 3 2447-57-6 17134
39
Cisplatin Approved Phase 3,Phase 2 15663-27-1 84093 441203 2767
40
Bevacizumab Approved, Investigational Phase 2, Phase 3 216974-75-3
41
Cetuximab Approved Phase 3,Phase 1,Phase 2 205923-56-4 56842117 2333
42
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
43
Methyltestosterone Approved Phase 3 58-18-4 6010
44
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
45
Testosterone Approved, Investigational Phase 3 58-22-0 6013
46
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
47
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 54575, 6560146 143
48
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
49
Docetaxel Approved May 1996, Investigational Phase 3 114977-28-5 148124 9877265
50 Renal Agents Phase 3,Phase 2,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 83)
id Name Status NCT ID Phase
1 Efficacy Study of Botox for Depression Unknown status NCT01556971 Phase 4
2 Does Discontinuation of Aspirin Treatment Following Head Trauma Decrease the Incidence of Chronic Subdural Hematoma? Unknown status NCT01470040 Phase 4
3 Acamprosate in Alcoholics With Comorbid Anxiety or Depression Completed NCT00330174 Phase 4
4 Pharmacokinetics of Dihydroartemisinin-Piperaquine in the Treatment of Uncomplicated Malaria in Children in Burkina Faso Completed NCT00845533 Phase 4
5 Longitudinal Antimalarial Combinations in Uganda Completed NCT00123552 Phase 3
6 Randomized Controlled Trial of Enhanced Pharmacy Care in Older Veteran Outpatients Completed NCT00122122 Phase 3
7 A Study With SAGE-547 for Super-Refractory Status Epilepticus Recruiting NCT02477618 Phase 3
8 Clinical Study to Evaluate the Efficacy, Safety and Immunogenicity of an MF59-Adjuvanted Quadrivalent Influenza Vaccine Compared to Non-influenza Vaccine Comparator in Adults ≥ 65 Years of Age Recruiting NCT02587221 Phase 3
9 Artisan Aphakia Lens for the Correction of Aphakia (Secondary) in Adults Recruiting NCT01547429 Phase 3
10 Artisan Aphakia Lens for the Correction of Aphakia in Children Recruiting NCT01547442 Phase 3
11 Anti-VEGF vs. Prompt Vitrectomy for VH From PDR Recruiting NCT02858076 Phase 2, Phase 3
12 Anti-VEGF Treatment for Prevention of PDR/DME Recruiting NCT02634333 Phase 3
13 Treatment for CI-DME in Eyes With Very Good VA Study Recruiting NCT01909791 Phase 3
14 Radiation Therapy and Cisplatin With or Without Cetuximab in Treating Patients With Stage III or Stage IV Head and Neck Cancer Active, not recruiting NCT00265941 Phase 3
15 Hormone Therapy and Radiation Therapy or Hormone Therapy and Radiation Therapy Followed by Docetaxel and Prednisone in Treating Patients With Localized Prostate Cancer Active, not recruiting NCT00288080 Phase 3
16 Palifermin in Lessening Oral Mucositis in Patients Undergoing Radiation Therapy and Chemotherapy for Locally Advanced Head and Neck Cancer Terminated NCT00360971 Phase 3
17 The Effect of Single Dose D-Cycloserine on Cognitive Outcome in Moderate Traumatic Brain Injury (TBI) Patients Unknown status NCT01343862 Phase 2
18 Caphosol for the Reduction of Mucositis in Patients Receiving Radiation Therapy for Head and Neck Cancer Unknown status NCT00901732 Phase 1, Phase 2
19 UAB 0718 - Phase II Trial to Assess Target Oral Therapy as Adjuvant Chemoprevention in High-Risk Head and Neck Cancer Completed NCT00570232 Phase 2
20 A Trial of Erlotinib + Radiotherapy for Cutaneous Squamous Cell Carcinoma Completed NCT00369512 Phase 2
21 Effects of Black Cohosh on Menopausal Hot Flashes Completed NCT00010712 Phase 2
22 Acupuncture to Improve Quality of Life in Patients With Advanced Cancer Completed NCT00070967 Phase 2
23 Chemotherapy, Surgery, and Radiation Therapy in Treating Patients With Gastric Cancer Completed NCT00003298 Phase 2
24 Pilot Study to Assess Efficacy and Safety of Sofosbuvir/Ledipasvir Fixed-dose Combination in Treatment Experienced Subjects With Hepatitis C Virus (HCV) Genotype 1 - HIV Co-infection Completed NCT02125500 Phase 2
25 Crux Biomedical IVC Filter - Evaluation of the Crux Inferior Vena Cava Filter System (Retrieve) Completed NCT00605332 Phase 2
26 Cetuximab-IRDye 800CW in Detecting Tumors in Patients With Malignant Glioma Undergoing Surgery Recruiting NCT02855086 Phase 1, Phase 2
27 Cetuximab-IRDye 800CW and Intraoperative Imaging in Finding Pancreatic Cancer in Patients Undergoing Surgery Recruiting NCT02736578 Phase 2
28 A Multi-Center Study Evaluating KTE-C19 in Pediatric and Adolescent Subjects With Relapsed/Refractory B-precursor Acute Lymphoblastic Leukemia Recruiting NCT02625480 Phase 1, Phase 2
29 Short Duration Therapy of Acute Hepatitis C Genotypes 1 or 4 in HIV-infected Patients Not yet recruiting NCT02886624 Phase 2
30 Symptom Burden in Head and Neck Cancer Terminated NCT01219673 Phase 1, Phase 2
31 Safety Study of Adenovirus/PNP Coupled With Fludarabine Phosphate to Treat Solid Tumors Completed NCT01310179 Phase 1
32 The Effects of Antihistamines on Pre-Pulse Inhibition Completed NCT01537471 Phase 1
33 Cetuximab IRDye800 Study as an Optical Imaging Agent to Detect Cancer During Surgical Procedures Recruiting NCT01987375 Phase 1
34 Phase I Panitumumab IRDye800 Optical Imaging Study Recruiting NCT02415881 Phase 1
35 Total Marrow and Lymphoid Irradiation and Chemotherapy Before Donor Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Leukemia Recruiting NCT02446964 Phase 1
36 A Phase 1 Study Evaluating CB-5083 in Subjects With Advanced Solid Tumors Recruiting NCT02243917 Phase 1
37 Total Marrow and Total Lymph Node Irradiation, Fludarabine, and Melphalan Followed By Donor Stem Cell Transplant in Treating Patients With Advanced Hematological Cancer That Has Not Responded to Treatment Terminated NCT00800150 Phase 1
38 A Single and Low Dose of Recombinant Factor VIIa in Patients With Severe Factor XI Deficiency Undergoing Surgery Unknown status NCT01538160
39 A Cluster-randomized Controlled Knowledge Translation Feasibility Study in Alberta Community Pharmacies Unknown status NCT02191111
40 The Impact of Dosimeter on Measurement of Airway Responsiveness to Methacholine Completed NCT00145990
41 DeVilbiss AutoAdjust With SmartFlex Comparative Study Completed NCT01203956
42 Post-traumatic Stress Disorder (PTSD), Addiction, and Virtual Reality Completed NCT01186315
43 Developing Computer Based Treatments for Addiction Completed NCT00586534
44 DBT Compared to I/GDC for the Treatment of Opiate Addiction in Emotionally Dysregulated Patients. - 1 Completed NCT00218595
45 Evaluating a Novel Method of Generalizing Emotion Regulation Completed NCT01653548
46 Trial of Low and High Intensity Strategies to Maintain BP Control Completed NCT00760552
47 Women's Use of Alternative Medicine: A Multiethnic Study Completed NCT00067249
48 Tdap Vaccination for Infant Caregivers Completed NCT01233401
49 Strength, Pain and Function in Operation Iraqi Freedom/Operation Enduring Freedom Amputees: A Nurse-Managed Program Completed NCT00942890
50 CAPTURE - Complete Automatic Pacing Threshold Utilization Recorded by EnPulse Completed NCT00275769

Search NIH Clinical Center for Factor Xi Deficiency, Autosomal Recessive

Cochrane evidence based reviews: factor xi deficiency

Genetic Tests for Factor Xi Deficiency, Autosomal Recessive

Genetic tests related to Factor Xi Deficiency, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Hereditary Factor Xi Deficiency Disease 29
2 Factor Xi Deficiency 24 F11

Anatomical Context for Factor Xi Deficiency, Autosomal Recessive

Publications for Factor Xi Deficiency, Autosomal Recessive

Variations for Factor Xi Deficiency, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Factor Xi Deficiency, Autosomal Recessive:

66 (show top 50) (show all 58)
id Symbol AA change Variation ID SNP ID
1 F11 p.Phe301Leu VAR_006622 rs121965064
2 F11 p.Asp34His VAR_012085 rs281875267
3 F11 p.Trp246Cys VAR_012086 rs281875279
4 F11 p.Ser266Asn VAR_012087 rs145168351
5 F11 p.Leu320Pro VAR_012088 rs281875268
6 F11 p.Thr322Ile VAR_012089 rs281875269
7 F11 p.Arg326Cys VAR_012090 rs28934608
8 F11 p.Glu341Lys VAR_012091 rs281875270
9 F11 p.Thr404Asn VAR_012092 rs121965067
10 F11 p.Ala430Val VAR_012093 rs121965068
11 F11 p.Phe460Val VAR_012094 rs121965065
12 F11 p.Thr493Ile VAR_012095
13 F11 p.Ser594Arg VAR_012096 rs28934609
14 F11 p.Cys46Phe VAR_054894 rs281875271
15 F11 p.Cys56Arg VAR_054895 rs121965069
16 F11 p.Lys101Arg VAR_054896 rs281875272
17 F11 p.Tyr151Cys VAR_054897 rs281875273
18 F11 p.Cys255Tyr VAR_054898 rs281875277
19 F11 p.Gly263Glu VAR_054899 rs281875274
20 F11 p.Lys270Ile VAR_054900 rs121965070
21 F11 p.Gly418Val VAR_054901 rs121965071
22 F11 p.Tyr511His VAR_054902 rs281875278
23 F11 p.Pro538Leu VAR_054903 rs139695003
24 F11 p.Glu565Lys VAR_054904 rs281875275
25 F11 p.Trp587Ser VAR_054905 rs121965072
26 F11 p.Ile618Ser VAR_054906 rs281875276
27 F11 p.Gly32Arg VAR_067929 rs281875259
28 F11 p.Ala43Thr VAR_067930 rs281875264
29 F11 p.Thr51Ile VAR_067931 rs281875252
30 F11 p.Thr51Pro VAR_067932 rs281875243
31 F11 p.His53Gln VAR_067933 rs281875261
32 F11 p.Ala63Val VAR_067934 rs281875244
33 F11 p.Cys140Tyr VAR_067935 rs281875256
34 F11 p.Asp222Tyr VAR_067936 rs281875245
35 F11 p.Arg228Gln VAR_067937 rs281875246
36 F11 p.Phe241Leu VAR_067938 rs281875265
37 F11 p.Arg252Thr VAR_067939 rs281875260
38 F11 p.Ser276Cys VAR_067940 rs281875247
39 F11 p.Gly277Asp VAR_067941 rs281875248
40 F11 p.Glu315Lys VAR_067942 rs281875257
41 F11 p.Thr331Ile VAR_067943 rs281875253
42 F11 p.Leu360Pro VAR_067944 rs281875254
43 F11 p.Trp401Arg VAR_067945 rs281875262
44 F11 p.Val403Met VAR_067946 rs281875266
45 F11 p.Ile454Lys VAR_067947 rs281875241
46 F11 p.Ile481Ser VAR_067948 rs281875242
47 F11 p.Ser503Pro VAR_067949 rs140068026
48 F11 p.Asp506Gly VAR_067950 rs281875258
49 F11 p.Cys514Phe VAR_067951 rs281875249
50 F11 p.Asp526Glu VAR_067952 rs281875263

ClinVar genetic disease variations for Factor Xi Deficiency, Autosomal Recessive:

6 (show top 50) (show all 51)
id Gene Variation Type Significance SNP ID Assembly Location
1 F11 NM_000128.3(F11): c.1716+1G> A single nucleotide variant Pathogenic rs373297713 GRCh37 Chromosome 4, 187208978: 187208978
2 F11 NM_000128.3(F11): c.403G> T (p.Glu135Ter) single nucleotide variant Pathogenic rs121965063 GRCh37 Chromosome 4, 187195347: 187195347
3 F11 NM_000128.3(F11): c.901T> C (p.Phe301Leu) single nucleotide variant Pathogenic rs121965064 GRCh37 Chromosome 4, 187201412: 187201412
4 F11 F11, IVS9AS, A-G, -2 single nucleotide variant Pathogenic
5 F11 F11, IVS5DS, G-C, +5 single nucleotide variant Pathogenic
6 F11 NM_000128.3(F11): c.1378T> G (p.Phe460Val) single nucleotide variant Pathogenic rs121965065 GRCh37 Chromosome 4, 187206865: 187206865
7 F11 NM_000128.3(F11): c.438C> A (p.Cys146Ter) single nucleotide variant Pathogenic rs121965066 GRCh37 Chromosome 4, 187195382: 187195382
8 F11 NM_000128.3(F11): c.1211C> A (p.Thr404Asn) single nucleotide variant Pathogenic rs121965067 GRCh37 Chromosome 4, 187205321: 187205321
9 F11 NM_000128.3(F11): c.976C> T (p.Arg326Cys) single nucleotide variant Pathogenic rs28934608 GRCh37 Chromosome 4, 187201487: 187201487
10 F11 NM_000128.3(F11): c.1289C> T (p.Ala430Val) single nucleotide variant Pathogenic rs121965068 GRCh37 Chromosome 4, 187205399: 187205399
11 F11 NM_000128.3(F11): c.1782C> A (p.Ser594Arg) single nucleotide variant Pathogenic rs28934609 GRCh37 Chromosome 4, 187209672: 187209672
12 F11 NM_000128.3(F11): c.166T> C (p.Cys56Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121965069 GRCh37 Chromosome 4, 187192873: 187192873
13 F11 NM_000128.3(F11): c.1253G> T (p.Gly418Val) single nucleotide variant Pathogenic/Likely pathogenic rs121965071 GRCh37 Chromosome 4, 187205363: 187205363
14 F11 NM_000128.3(F11): c.1760G> C (p.Trp587Ser) single nucleotide variant Pathogenic rs121965072 GRCh37 Chromosome 4, 187209650: 187209650
15 F11 F11, DEL deletion Pathogenic
16 F11 NM_000128.3(F11): c.1693G> A (p.Glu565Lys) single nucleotide variant Likely pathogenic rs281875275 GRCh37 Chromosome 4, 187208954: 187208954
17 F11 NM_000128.3(F11): c.1724C> T (p.Ser575Leu) single nucleotide variant Likely pathogenic rs281875250 GRCh37 Chromosome 4, 187209614: 187209614
18 F11 NM_000128.3(F11): c.67C> T (p.Gln23Ter) single nucleotide variant Likely pathogenic rs768409400 GRCh37 Chromosome 4, 187192774: 187192774
19 F11 NM_000128.3(F11): c.325G> A (p.Ala109Thr) single nucleotide variant Likely pathogenic rs768474112 GRCh37 Chromosome 4, 187194331: 187194331
20 F11 NM_000128.3(F11): c.400C> T (p.Gln134Ter) single nucleotide variant Pathogenic/Likely pathogenic rs756908183 GRCh37 Chromosome 4, 187195344: 187195344
21 F11 NM_000128.3(F11): c.408C> A (p.Cys136Ter) single nucleotide variant Likely pathogenic rs143648758 GRCh38 Chromosome 4, 186274198: 186274198
22 F11 NM_000128.3(F11): c.682C> T (p.Arg228Ter) single nucleotide variant Likely pathogenic rs752907087 GRCh37 Chromosome 4, 187197471: 187197471
23 F11 NM_000128.3(F11): c.730C> T (p.Gln244Ter) single nucleotide variant Likely pathogenic rs747702749 GRCh37 Chromosome 4, 187197519: 187197519
24 F11 NM_000128.3(F11): c.751C> T (p.Gln251Ter) single nucleotide variant Likely pathogenic rs754087775 GRCh37 Chromosome 4, 187197540: 187197540
25 F11 NM_000128.3(F11): c.908delG (p.Gly303Glufs) deletion Likely pathogenic rs786204722 GRCh38 Chromosome 4, 186280265: 186280265
26 F11 NM_000128.3(F11): c.961_962delTG (p.Cys321Hisfs) deletion Likely pathogenic rs786204449 GRCh37 Chromosome 4, 187201472: 187201473
27 F11 NM_000128.3(F11): c.1075delA (p.Ile359Tyrfs) deletion Likely pathogenic rs786204429 GRCh38 Chromosome 4, 186280520: 186280520
28 F11 NM_000128.3(F11): c.1107C> A (p.Tyr369Ter) single nucleotide variant Likely pathogenic rs773905328 GRCh38 Chromosome 4, 186280552: 186280552
29 F11 NM_000128.3(F11): c.1186C> T (p.Arg396Cys) single nucleotide variant Likely pathogenic rs771896253 GRCh37 Chromosome 4, 187205296: 187205296
30 F11 NM_000128.3(F11): c.1313C> A (p.Ser438Ter) single nucleotide variant Likely pathogenic rs786204724 GRCh37 Chromosome 4, 187206800: 187206800
31 F11 NM_000128.3(F11): c.1556G> A (p.Trp519Ter) single nucleotide variant Likely pathogenic rs201007090 GRCh37 Chromosome 4, 187207644: 187207644
32 F11 NM_000128.3(F11): c.1613C> T (p.Pro538Leu) single nucleotide variant Likely pathogenic rs139695003 GRCh38 Chromosome 4, 186287720: 186287720
33 F11 NM_000128.3(F11): c.1432G> A (p.Gly478Arg) single nucleotide variant Pathogenic rs542967227 GRCh37 Chromosome 4, 187206919: 187206919
34 F11 NM_000128.3(F11): c.1288G> A (p.Ala430Thr) single nucleotide variant Pathogenic rs753909969 GRCh37 Chromosome 4, 187205398: 187205398
35 F11 NM_000128.3(F11): c.25_28delCATT (p.His9Serfs) deletion Likely pathogenic rs1057516616 GRCh38 Chromosome 4, 186267161: 186267164
36 F11 NM_000128.3(F11): c.218+1G> A single nucleotide variant Likely pathogenic rs1057516738 GRCh37 Chromosome 4, 187192926: 187192926
37 F11 NM_000128.3(F11): c.219G> A (p.Trp73Ter) single nucleotide variant Likely pathogenic rs762013077 GRCh38 Chromosome 4, 186273071: 186273071
38 F11 NM_000128.3(F11): c.291delG (p.Tyr98Ilefs) deletion Likely pathogenic rs1057517151 GRCh37 Chromosome 4, 187194297: 187194297
39 F11 NM_000128.3(F11): c.326-1G> A single nucleotide variant Pathogenic rs1057517364 GRCh38 Chromosome 4, 186274115: 186274115
40 F11 NM_000128.3(F11): c.486-2A> G single nucleotide variant Likely pathogenic rs1057516695 GRCh38 Chromosome 4, 186275785: 186275785
41 F11 NM_000128.3(F11): c.596-7_600del12 deletion Likely pathogenic rs1057517116 GRCh37 Chromosome 4, 187197378: 187197389
42 F11 NM_000128.3(F11): c.964_965delAC (p.Thr322Glnfs) deletion Likely pathogenic rs1057516431 GRCh37 Chromosome 4, 187201475: 187201476
43 F11 NM_000128.3(F11): c.1232_1235delCTCA (p.Thr411Argfs) deletion Likely pathogenic rs1057517446 GRCh37 Chromosome 4, 187205342: 187205345
44 F11 NM_000128.3(F11): c.1247G> A (p.Cys416Tyr) single nucleotide variant Likely pathogenic rs779802284 GRCh38 Chromosome 4, 186284203: 186284203
45 F11 NM_000128.3(F11): c.1305-1G> A single nucleotide variant Likely pathogenic rs1057517204 GRCh37 Chromosome 4, 187206791: 187206791
46 F11 NM_000128.3(F11): c.1390C> T (p.Gln464Ter) single nucleotide variant Likely pathogenic rs1057517035 GRCh38 Chromosome 4, 186285723: 186285723
47 F11 NM_000128.3(F11): c.1481-1G> T single nucleotide variant Likely pathogenic rs1057516506 GRCh37 Chromosome 4, 187207568: 187207568
48 F11 NM_000128.3(F11): c.1560dupG (p.Tyr521Valfs) duplication Likely pathogenic rs1057516777 GRCh38 Chromosome 4, 186286494: 186286494
49 F11 NM_000128.3(F11): c.1676_1682delTCTGTGC (p.Ile559Thrfs) deletion Likely pathogenic rs1057517171 GRCh37 Chromosome 4, 187208937: 187208943
50 F11 NM_000128.3(F11): c.1778C> T (p.Thr593Met) single nucleotide variant Likely pathogenic rs145906668 GRCh38 Chromosome 4, 186288514: 186288514

Expression for Factor Xi Deficiency, Autosomal Recessive

Search GEO for disease gene expression data for Factor Xi Deficiency, Autosomal Recessive.

Pathways for Factor Xi Deficiency, Autosomal Recessive

Pathways related to Factor Xi Deficiency, Autosomal Recessive according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 F11 F2 F3 F5 F7 F8
2
Show member pathways
12.42 F11 F2 F3 F5 F7 F8
3 11.7 F11 F2 F3 F5 F7 F8
4
Show member pathways
11.58 F2 F7 F9
5
Show member pathways
11.43 F11 F2 F3 F5 F7 F8
6 11.11 F2 VWF
7 10.67 F2 F7 F9

GO Terms for Factor Xi Deficiency, Autosomal Recessive

Cellular components related to Factor Xi Deficiency, Autosomal Recessive according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 F11 F2 F3 F5 F7 F8
2 Golgi lumen GO:0005796 9.54 F2 F7 F9
3 platelet alpha granule lumen GO:0031093 9.5 F5 F8 VWF
4 ER to Golgi transport vesicle GO:0030134 9.43 F5 F8
5 platelet alpha granule GO:0031091 9.4 F5 VWF
6 endoplasmic reticulum lumen GO:0005788 9.35 F2 F5 F7 F8 F9
7 serine-type peptidase complex GO:1905286 9.26 F3 F7
8 extracellular region GO:0005576 9.23 F11 F2 F3 F5 F7 F8
9 plasma membrane GO:0005886 10 F11 F2 F3 F5 F7 F8

Biological processes related to Factor Xi Deficiency, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.88 F11 F2 F5 F7 F8 F9
2 platelet activation GO:0030168 9.76 F2 F5 F8 VWF
3 ER to Golgi vesicle-mediated transport GO:0006888 9.72 F2 F5 F7 F8 F9
4 platelet degranulation GO:0002576 9.7 F5 F8 VWF
5 signal peptide processing GO:0006465 9.61 F2 F7 F9
6 COPII vesicle coating GO:0048208 9.57 F5 F8
7 acute-phase response GO:0006953 9.56 F2 F8
8 blood coagulation GO:0007596 9.56 F11 F2 F3 F5 F7 F8
9 regulation of blood coagulation GO:0030193 9.55 F11 F2
10 blood coagulation, intrinsic pathway GO:0007597 9.55 F11 F2 F8 F9 VWF
11 positive regulation of blood coagulation GO:0030194 9.54 F2 F7
12 peptidyl-glutamic acid carboxylation GO:0017187 9.54 F2 F7 F9
13 positive regulation of positive chemotaxis GO:0050927 9.51 F3 F7
14 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.49 F3 F7
15 response to vitamin K GO:0032571 9.48 F5 F7
16 blood coagulation, extrinsic pathway GO:0007598 9.43 F3 F7 F9
17 hemostasis GO:0007599 9.23 F11 F2 F3 F5 F7 F8

Molecular functions related to Factor Xi Deficiency, Autosomal Recessive according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.46 F11 F2 F7 F9
2 glycoprotein binding GO:0001948 9.32 F7 VWF
3 copper ion binding GO:0005507 9.26 F5 F8
4 serine-type peptidase activity GO:0008236 9.26 F11 F2 F7 F9
5 serine-type endopeptidase activity GO:0004252 9.17 F11 F2 F3 F5 F7 F8

Sources for Factor Xi Deficiency, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....