Scott Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCTS MCID: SCT005 MIFTS: 50	Scott Syndrome (SCTS) Categories: Blood diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Scott Syndrome

MalaCards integrated aliases for Scott Syndrome:

Name: Scott Syndrome ⁵⁷ ¹² ⁷⁴ ²⁰ ⁵⁸ ⁷³ ³⁶ ²⁹ ¹³ ⁵⁴ ⁶ ⁴⁴ ¹⁵ ³⁹ ⁷¹

Prothrombin Consumption Deficiency ⁵⁷ ¹² ⁷³

Bdplt7 ⁵⁷ ¹² ⁷³

Scts ⁵⁷ ¹² ⁷³

Bleeding Abnormality Due to Deficiency of Platelet Binding of Factor X ⁵⁷ ⁷³

Bleeding Abnormality Due to Deficiency of Platelet Biding of Factor X ¹²

Bleeding Disorder, Platelet-Type, 7; Bdplt7 ⁵⁷

Prothrombin Consumption Inhibitor, Familial ⁵⁷

Familial Prothrombin Consumption Inhibitor ¹²

Prothrombin Consumption Inhibitor Familial ⁷³

Prothrombin Conversion Defect, Familial ⁵⁷

Familial Prothrombin Conversion Defect ¹²

Prothrombin Conversion Defect Familial ⁷³

Platelet Factor X Receptor Deficiency ²⁰

Bleeding Disorder, Platelet-Type, 7 ⁵⁷

Platelet-Type Bleeding Disorder 7 ¹²

Bleeding Disorder Platelet-Type 7 ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

scott syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

HPO:

³¹

scott syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

Purpura and other haemorrhagic conditions

Other specified haemorrhagic conditions

Orphanet: ⁵⁸

Rare haematological diseases

External Ids:

Disease Ontology ¹² DOID:0111052

OMIM® ⁵⁷ 262890

OMIM Phenotypic Series ⁵⁷ PS231200

KEGG ³⁶ H01162

MeSH ⁴⁴ C563120 D006470

SNOMED-CT ⁶⁷ 128098009

ICD10 via Orphanet ³³ D69.8

UMLS via Orphanet ⁷² C0796149

Orphanet ⁵⁸ ORPHA806

MedGen ⁴¹ C0796149

SNOMED-CT via HPO ⁶⁸ 248250000 258211005 64779008

UMLS ⁷¹ C0796149

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Summaries for Scott Syndrome

KEGG : ³⁶ Scott syndrome is a rare autosomal recessive congenital bleeding disorder caused by a defect in blood coagulation. When platelets are activated, a calcium-induced rearrangement of the platelet membrane phospholipids takes place, exposing negatively charged phosphatidylserine (PS) at the outer surface of the platelets, where it can anchor coagulation factors. This phenomenon is mediated by lipid scramblase. In patients with Scott syndrome this mechanism is defective, resulting in impaired blood clotting. A mutation in the gene encoding scramblase TMEM16F has been found.

MalaCards based summary : Scott Syndrome, also known as prothrombin consumption deficiency, is related to aarskog-scott syndrome and unilateral focal polymicrogyria. An important gene associated with Scott Syndrome is ANO6 (Anoctamin 6), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. The drugs Nicotine and Varenicline have been mentioned in the context of this disorder. Affiliated tissues include myeloid, t cells and spinal cord, and related phenotypes are abnormal bleeding and factor x activation deficiency

Disease Ontology : ¹² A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has material basis in homozygous mutation in the TMEM16F gene on chromosome 12q12.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 806DefinitionScott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.Visit the Orphanet disease page for more resources.

OMIM® : ⁵⁷ Scott syndrome is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents (Munnix et al., 2003). (262890) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ Scott syndrome: A mild bleeding disorder due to impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents.

Wikipedia : ⁷⁴ Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism... more...

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Related Diseases for Scott Syndrome

Diseases related to Scott Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)

#	Related Disease	Score	Top Affiliating Genes
1	aarskog-scott syndrome	33.0	PLEK FGD1 ARHGEF2
2	unilateral focal polymicrogyria	30.2	FGD1 ARHGEF2
3	fibular aplasia, tibial campomelia, and oligosyndactyly syndrome	11.4
4	desbuquois dysplasia 2	11.2
5	pelvic hypoplasia with lower-limb arthrogryposis	11.2
6	epiphyseal dysplasia hearing loss dysmorphism	11.2
7	prothrombin deficiency, congenital	10.3	F2 F10
8	prothrombin deficiency	10.2	F2 F10
9	hemarthrosis	10.2	F2 F10
10	thrombophilia due to thrombin defect	10.2	TNXA F2 F10
11	pulmonary embolism	10.2	TNXA F2 F10
12	gastric hemangioma	10.2	F2 ANO1
13	intracranial thrombosis	10.1	F2 F10
14	active peptic ulcer disease	10.1	F2 ANO1
15	factor v deficiency	10.1	F2 F10
16	blood coagulation disease	10.1	F2 F10 ANO6
17	attention deficit-hyperactivity disorder	10.1
18	brachydactyly	10.1
19	rare hemorrhagic disorder	10.1
20	spinocerebellar ataxia, autosomal recessive 10	10.0	ANO6 ANO3 ANO10
21	noonan syndrome 1	10.0
22	generalized epilepsy with febrile seizures plus	10.0
23	pseudo-turner syndrome	10.0
24	factor x deficiency	10.0	F2 F10
25	arteries, anomalies of	9.9
26	tobacco addiction	9.9
27	smoking as a quantitative trait locus 3	9.9
28	acute promyelocytic leukemia	9.9
29	helix syndrome	9.9
30	lipoprotein quantitative trait locus	9.9
31	b-lymphoblastic leukemia/lymphoma	9.9
32	leukemia	9.9
33	chickenpox	9.9
34	gray platelet syndrome	9.8
35	hypertelorism	9.8
36	hemifacial microsomia	9.8
37	stormorken syndrome	9.8
38	cryptorchidism, unilateral or bilateral	9.8
39	desbuquois dysplasia 1	9.8
40	short syndrome	9.8
41	glanzmann thrombasthenia	9.8
42	agammaglobulinemia, x-linked	9.8
43	ataxia and polyneuropathy, adult-onset	9.8
44	quebec platelet disorder	9.8
45	astigmatism	9.8
46	polymicrogyria with or without vascular-type ehlers-danlos syndrome	9.8
47	autosomal recessive disease	9.8
48	scoliosis	9.8
49	robinow syndrome	9.8
50	suppression amblyopia	9.8

Graphical network of the top 20 diseases related to Scott Syndrome:

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Symptoms & Phenotypes for Scott Syndrome

Human phenotypes related to Scott Syndrome:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	abnormal bleeding ³¹		HP:0001892
2	factor x activation deficiency ³¹		HP:0008354

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Lab:
factor x activation deficiency
platelet receptor deficiency
prothrombin activation deficiency
defect in stimulated platelet capacity to expose surface phosphatidylserine
impaired factor viiia binding

Heme:
hemorrhagic diathesis

Clinical features from OMIM®:

262890 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Scott Syndrome

Drugs for Scott Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 191)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Nicotine

Approved

Phase 4

54-11-5

942 89594

Varenicline

Approved, Investigational

Phase 4

249296-44-4

5310966

Bupropion

Approved

Phase 4

34911-55-2, 34841-39-9

444

Voriconazole

Approved

Phase 4

137234-62-9

71616

Cytochrome P-450 CYP3A Inhibitors

Phase 4

Cytochrome P-450 Enzyme Inhibitors

Phase 4

Efavirenz

Approved, Investigational

Phase 2, Phase 3

154598-52-4

64139

Salmon calcitonin

Approved, Investigational

Phase 3

47931-85-1

16129616

Vindesine

Approved, Investigational

Phase 3

53643-48-4, 59917-39-4

40839

Epirubicin

Approved

Phase 3

56420-45-2

41867

Lenograstim

Approved, Investigational

Phase 3

135968-09-1

Vinblastine

Approved

Phase 3

865-21-4

13342 241903

Ifosfamide

Approved

Phase 3

3778-73-2

3690

Idarubicin

Approved

Phase 2, Phase 3

58957-92-9

42890

Sorafenib

Approved, Investigational

Phase 2, Phase 3

284461-73-0

216239 406563

Prednisolone acetate

Approved, Vet_approved

Phase 3

52-21-1

Prednisolone

Approved, Vet_approved

Phase 3

50-24-8

5755

Prednisolone phosphate

Approved, Vet_approved

Phase 3

302-25-0

Methylprednisolone hemisuccinate

Approved

Phase 3

2921-57-5

Methylprednisolone

Approved, Vet_approved

Phase 3

83-43-2

6741

Elotuzumab

Approved

Phase 3

915296-00-3

Cisplatin

Approved

Phase 3

15663-27-1

84093 441203 2767

Fluorouracil

Approved

Phase 3

51-21-8

3385

Dexamethasone

Approved, Investigational, Vet_approved

Phase 3

50-02-2

5743

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 3

1177-87-3

Benzocaine

Approved, Investigational

Phase 3

1994-09-7, 94-09-7

2337

tannic acid

Approved

Phase 3

1401-55-4

Methotrexate

Approved

Phase 3

1959-05-2, 59-05-2

126941

Vincristine

Approved, Investigational

Phase 3

2068-78-2, 57-22-7

5978

Etoposide

Approved

Phase 3

33419-42-0

36462

Prednisone

Approved, Vet_approved

Phase 3

53-03-2

5865

Cytarabine

Approved, Investigational

Phase 3

147-94-4

6253

Daunorubicin

Approved

Phase 3

20830-81-3

30323

Levoleucovorin

Approved, Investigational

Phase 3

68538-85-2

149436

Docetaxel

Approved, Investigational

Phase 3

114977-28-5

148124

Pegaspargase

Approved, Investigational

Phase 3

130167-69-0

Ichthammol

Approved

Phase 3

8029-68-3

Blinatumomab

Approved, Investigational

Phase 3

853426-35-4

Mercaptopurine

Approved

Phase 3

50-44-2

667490

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 3

59-30-3

6037

Calcitonin gene-related peptide

Investigational

Phase 3

83652-28-2

Prednisolone hemisuccinate

Experimental

Phase 3

2920-86-7

Cortisone

Experimental

Phase 3

53-06-5

222786

Anti-Retroviral Agents

Phase 2, Phase 3

Reverse Transcriptase Inhibitors

Phase 2, Phase 3

PENTA

Phase 2, Phase 3

Calcium, Dietary

Phase 3

calcitonin

Phase 3

Katacalcin

Phase 3

Vasodilator Agents

Phase 3

Interventional clinical trials:

(show top 50) (show all 140)

#	Name	Status	NCT ID	Phase	Drugs
1	A Pragmatic, Randomized, Controlled Study Evaluating The Impact Of Access To Smoking Cessation Treatment Reimbursement On The Proportion Of Successful Quitters In A Canadian Population Of Smokers Motivated To Quit	Completed	NCT00818207	Phase 4
2	Prospective, Open-Label, Non-Comparative, Multicenter Study for the Secondary Prophylaxis of Invasive Fungal Infections (IFI) With Voriconazole in Patients With Allogeneic Stem Cell Transplants (SCT).	Completed	NCT00143312	Phase 4	voriconazole
3	A Multicenter,Randomized, Controlled (Comparative), Open, Prospective Study Evaluating an Efficacy of R-DA-EPOCH and R-CEOP90, With or Without Upfront Auto-HSCT，in Newly Diagnosed Young Patients With Intermediate/High-risk DLBCL	Unknown status	NCT03213977	Phase 3	R-DA-EPOCH;R-DA-EPOCH + auto-HSCT;R-CEOP90;R-CEOP90 + auto-HSCT
4	Chronic Venous ULcer TReatment Analyzing Bio-Electrical Stimulation Therapy	Unknown status	NCT00678847	Phase 2, Phase 3
5	Randomized, Prospective, Multicenter Study to Compare Enteral Nutrition to Parenteral Nutrition as Feeding Support in Patients Presenting Malignant Hemopathy Who Underwent an Allogeneic Hematopoietic Stem Cell Transplantation.	Unknown status	NCT01955772	Phase 3	Enteral nutrition alanyl-glutamin, Dipeptiven
6	A Randomized Phase III Study to Assess Intensification of the Conditioning Regimen for Allogenic Stem Cell Transplantation (ALLO-SCT) for Leukemia or Myelodysplastic Syndrome With a High Risk of Relapse	Unknown status	NCT00002989	Phase 3	busulfan;cyclophosphamide;idarubicin;melphalan
7	BREATHER (PENTA 16) Short-Cycle Therapy (SCT) (5 Days on/2 Days Off) in Young People With Chronic HIV-infection	Unknown status	NCT01641016	Phase 2, Phase 3	efavirenz
8	A Randomized, Double-Blind, Multiple Dose, Placebo-Controlled, Parallel Group, 48-Week, Study of Oral Recombinant Salmon Calcitonin (rsCT) Compared to Salmon Calcitonin (sCT) Nasal Spray in Postmenopausal Osteoporotic Women	Completed	NCT00959764	Phase 3	Oral Calcitonin Tablets;Intranasal Calcitonin;Placebo tablets and placebo intranasal spray
9	HLH-2004 Treatment Protocol	Completed	NCT00426101	Phase 3	Dexamethasone;Etoposide;Cyclosporin
10	Phase III Study to Compare Haplo-identical HSCT Versus Chemotherapy in First Remission for Standard-risk Adult Acute Lymphoblastic Leukemia	Completed	NCT02042690	Phase 3	Chemotherapy
11	Randomized, Controlled (Comparative), Open, Prospective Study Evaluating an Efficacy of R-DA-EPOCH-21, R-BL-M-04 and Autologous Stem Cells Transplantation in Patients With High-Grade B-cell Lymphoma Double-hit and High-Grade B-cell Lymphoma Not Otherwise Specified	Recruiting	NCT03479918	Phase 3	R-DA-EPOCH-21;R-BL-M-04;R-DA-EPOCH-21 + auto-SCT;R-BL-M-04 + auto-SCT
12	Multicenter, Randomized, Controlled (Comparative), Open, Prospective Study Evaluating an Efficacy of R-DA-EPOCH-21, R-mNHL-BFM-90 and (Auto-SCT)in Patients With DLBCL	Recruiting	NCT02842931	Phase 3	R-DA-EPOCH-21;R-DA-EPOCH-21 + auto-SCT;R-mNHL-BFM-90;R-mNHL-BFM-90 + auto-SCT
13	Phase II/III Randomized Study to Improve Overall Survival in 18 to 60 Year-old Patients, Comparing Daunorubicin Versus High Dose Idarubicin Induction Regimens, High Dose Versus Intermediate Dose Cytarabine Consolidation Regimens, and Standard Versus Mycophenolate Mofetil Prophylaxis of Graft Versus Host Disease in Allografted Patients in First CR : a Backbone InterGroup-1 Trial	Recruiting	NCT02416388	Phase 2, Phase 3	Idarubicin;Daunorubicin;HD Cytarabine;Cyclosporine;Methotrexate;Mycophenolic acid (MPA);vosaroxin;ID cytarabine;Dexamethasone;Venetoclax
14	Haplo-mismatch Donor Stem Cell Transplantation (SCT) Versus Autologous SCT Followed or Not by Maintenance Therapy, for Patients With Acute Myeloid Leukemia (AML) in First Remission: A Chinese Randomized Multicenter Study	Recruiting	NCT02059720	Phase 3
15	SCT-I10A in Combination With SCT510 Versus Sorafenib as First-Line Therapy for Advanced Hepatocellular Carcinoma (HCC): A Multicenter, Randomized, Open-label,Phase 2/3 Trial	Recruiting	NCT04560894	Phase 2, Phase 3	SCT-I10A;SCT510;Sorafenib 200mg
16	Elotuzumab in Combination With Carfilzomib, Lenalidomide and Dexamethasone (E-KRd) Versus KRd Prior to and Following Auto-SCT in Newly Diagnosed Multipe Myeloma and Subsequent Maintenance With Elotuzumab and Lenalidomide Versus Single-Agent Lenalidomide- A Phase III Study by DSMM	Recruiting	NCT03948035	Phase 3	Elotuzumab;Carfilzomib;Lenalidomide;Dexamethasone
17	SCT-I10A Combined With Standard Chemotherapy Versus Placebo Combined With Standard Chemotherapy in First-line Recurrent/ Metastatic Head and Neck Squamous Cell Carcinoma (HNSCC): A Phase III, Multicenter, Randomized, Double-blinded Trial	Recruiting	NCT04146402	Phase 3	SCT-I10A+chemo;Placebos+chemo
18	A Phase III Study, Randomized, to Evaluate the Reduction of Chemotherapy Intensity in Association With Nilotinib (Tasigna®) in Philadelphia Chromosome-positive (Ph+) ALL of Young Adults (18-59 Years Old) (GRAAPH-2014)	Recruiting	NCT02611492	Phase 3	Nilotinib;Methotrexate;Aracytine (Ara C);Granulocyte Colony-Stimulating Factor (G-CSF);Depomedrol;Dexamethasone;Vincristine;Imatinib;6 Mercaptopurine (6MP)
19	A Multicenter Randomized Double-blinded Phase 3 Clinical Trial to Evaluate the Efficacy and Safety of SCT-I10A or Placebo Plus Docetaxel in Treating Advanced Squamous Non-small Cell Lung Cancer	Active, not recruiting	NCT04171284	Phase 3	SCT-I10;Docetaxel;Placebo
20	A Phase III Randomized Trial of Blinatumomab for Newly Diagnosed BCR-ABL-Negative B Lineage Acute Lymphoblastic Leukemia in Adults	Active, not recruiting	NCT02003222	Phase 3	Cyclophosphamide;Cytarabine;Daunorubicin;Daunorubicin Hydrochloride;Dexamethasone;Etoposide;Mercaptopurine;Methotrexate;Pegaspargase;Prednisone;Vincristine;Vincristine Sulfate
21	An Investigator Initiated, Prospective, Randomized, Controlled Study in Order to Evaluate the Effect of Anti-thymocyte Globulin (Fresenius ATG) on Engraftment, Graft Versus Host Disease (GVHD) and Graft Versus Leukemia (GVL) Effect in Haplo-identical Allogeneic Hematopoietic Stem-cell Transplantation	Terminated	NCT00616954	Phase 3	ATG-F
22	A Prospective Phase II Trial on R-CHOP Followed by High-dose BEAM and Autologous SCT and HLA-identical Allogenic SCT After Dose-reduced Conditioning in Patients Age < 55 Years With Primary Mantle-Cell-Lymphoma	Unknown status	NCT00946374	Phase 2	Immunochemotherapy;High-dose BEAM plus autologous SCT
23	Prospective and Multicentre Evaluation of 3 Different Doses of IV Busulfan Associated With Fludarabine and Thymoglobuline in the Conditioning of Allogeneic Stem Cell Transplantation (SCT) From a Matched Related or Unrelated Donor in Patients With Poor Prognosis Myeloid Malignancies	Unknown status	NCT01985061	Phase 2	BX2;BX3;BX4-Suspended
24	Prospective, Open-label, Multicentre Clinical Trial, Phase I/IIa, to Investigate the Safety and Tolerability of Allogeneic B-cell Concentrates CD3+-Depleted, CD19+-Enriched, Cryopreserved (Single Administration After Day 120 Following Allogeneic Stem Cell Transplantation (SCT), Donor-identical) in 4 Groups With Escalating Doses for Immune Response Enhancement, Measured as Response to a Antedated Single Vaccination	Unknown status	NCT02007811	Phase 1, Phase 2
25	A Phase I/II Study to Assess the Safety and Immunogenicity of WT1-A10 + AS01B Antigen-Specific Cancer Immunotherapeutic (ASCI) Combined With Infusions of ex Vivo Regulatory T Cells Depleted T Lymphocytes in in Vivo Regulatory T Cells Depleted Patients as Post-consolidation Therapy for Adult Patients With WT1-positive Acute Myeloid Leukemia (AML) in CR1 (for High Risk Patients) or in CR2 or CR3 Who Are Not Eligible for Allogeneic Stem Cell Transplantation (SCT).	Unknown status	NCT01513109	Phase 1, Phase 2
26	A Randomised Controlled Phase II Trial of the Adoptive Transfer of Selected Cytomegalovirus-Specific Cytotoxic T Lymphocytes (CMV-CTL) After Allogeneic Stem Cell Transplantation (SCT) in Patients at Risk of CMV Disease	Unknown status	NCT00986557	Phase 2	foscarnet sodium;ganciclovir
27	Therapy Protocol ALL SCT BFM International-Open, Multicenter, Controlled, Prospective Study for Therapy and Therapy Optimisation in Patients With Acute Lymphoblastic Leukemia (ALL) and an Indication for Allogeneic Hematopoietic Stem Cell Transplantation (HSCT)	Unknown status	NCT00861679	Phase 1, Phase 2
28	A Phase II Clinical Trial for Untreated Patients With Multiple Myeloma Eligible for Stem Cell Transplant: Lenalidomide (Revlimid®) Plus Low-dose Dexamethasone (Ld x 4 Cycles) Then Stem Cell Collection Followed by Randomization to Continued Ld or Stem Cell Transplantation (SCT) Plus Maintenance L	Completed	NCT00807599	Phase 2	lenalidomide and dexamethasone
29	Epidemiologic Study on Changing HIV Risks Among FSW-IDUs on the Mexico-US Border	Completed	NCT00840658	Phase 2
30	Clofarabine/Ara-C Treatment Combined With Reduced-intensity Conditioning Allogeneic Stem Cell Transplantation for Acute Myeloid Leukemia in Primary Treatment Failure	Completed	NCT01188174	Phase 2	Clofarabine
31	Treatment of Adult Acute Lymphoblastic Leukemia Using a Post-remission Programme Whose Intensity Varies Depending on the Risk Class Defined on the Basis of Minimal Residual Disease.	Completed	NCT00358072	Phase 2
32	A Pilot Study of Lenalidomide and Dexamethasone in Patients With Primary Plasma Cell Leukemia	Completed	NCT01553357	Phase 2	Lenalidomide, dexamethasone
33	Enhancing HIV Risk Reduction Among Indian Women With Risky Husbands	Completed	NCT01592994	Phase 2
34	Allogeneic Hematopoietic Stem Cell Transplantation With Reduced-intensity Conditioning in Children With Neuroblastoma Who Have Failed a Prior Autologous Transplantation	Completed	NCT00793351	Phase 2
35	A Phase 2, Randomized Study of VELCADE® (Bortezomib), Dexamethasone, and Thalidomide Versus VELCADE® (Bortezomib), Dexamethasone, Thalidomide, and Cyclophosphamide in Subjects With Previously Untreated Multiple Myeloma Who Are Candidates for Autologous Transplantation	Completed	NCT00531453	Phase 2	bortezomib, dexamethasone, and thalidomide;bortezomib, dexamethasone, thalidomide, and cyclophosphamide
36	PhaseII,Open-label,Pilot Study Evaluating the Safety+Efficacy of Certican ® in the Prevention of Chronic Graft-versus-host Disease+Late Pulmonary Complications After Allogeneic Hematopoietic Cell Transplantation Blood	Completed	NCT01509560	Phase 2	Everolimus
37	Allogeneic (Allo) Non-Myeloablative Stem Cell Transplantation (SCT) Utilizing Mis-Matched Family Member Stem Cells Purged Using Campath-1H	Completed	NCT00580034	Phase 2	Campath Purged Non-myeloablative ASCT
38	S0115, A Phase II Trial Evaluating Modified High Dose Melphalan (100 mg/m) And Autologous Peripheral Blood Stem Cell Supported Transplant (SCT) For High Risk Patients With Multiple Myeloma And/Or Light Chain Amyloidosis (AL Amyloidosis) (A BMT Study)	Completed	NCT00064337	Phase 2	cyclophosphamide;dexamethasone;melphalan;thalidomide
39	Efficacy of Lisdexamfetamine in Adults With Attention Deficit Hyperactivity Disorder (ADHD) and Sluggish Cognitive Tempo (SCT)	Completed	NCT02635035	Phase 2	Lisdexamfetamine;Placebo
40	Killer Immunoglobulin-like Receptor (KIR) Incompatible Unrelated Donor Hematopoietic Cell Transplantation (SCT) for AML With Monosomy 7, -5/5q-, High FLT3-ITD AR, or Refractory and Relapsed Acute Myelogenous Leukemia (AML) in Children: A Children's Oncology Group (COG) Study	Completed	NCT00553202	Phase 2	busulfan;cyclophosphamide;cyclosporine;methotrexate;methylprednisolone;tacrolimus
41	Azacitidine/Vorinostat/GemBuMel With Autologous Stem-Cell Transplant (SCT) in Patients With Refractory Lymphomas	Completed	NCT01983969	Phase 1, Phase 2	Azacitidine;Vorinostat;Gemcitabine;Busulfan;Melphalan;Dexamethasone;Glutamine;Pyridoxine;Rituximab
42	Cyclophosphamide Versus Anti-thymocyte Globulin for GVHD Prophylaxis After RIC Allo-SCT	Completed	NCT02876679	Phase 2	Cyclophosphamide;Anti-Thymocyte Globulin;Conditioning regimen
43	A Phase II Study to Assess the Efficacy of Maraviroc in Prophylaxis of GVHD in Patients With Hematologic Malignancies Undergoing Reduced-Intensity Allogeneic SCT From Unrelated Donors	Completed	NCT01785810	Phase 2	Maraviroc 300 mg
44	A Multi-centre, Randomised, Double-blind, Parallel Groups, Placebocontrolled Trial on Efficacy and Safety of Activated Recombinant Factor VII (rFVIIa/NovoSeven®) in Treatment of Bleeding in Patients Following Stem Cell Transplantation (SCT)	Completed	NCT01562158	Phase 2	activated recombinant human factor VII;activated recombinant human factor VII;activated recombinant human factor VII;placebo
45	A Phase II Study of 5-Azacitidine (5AC) in Combination With Sargramostim (GM-CSF) as Maintenance Treatment, After Definitive Therapy With Either Stem Cell Transplant (SCT) or Cytarabine-based Chemotherapy, in Patients With Poor-risk Acute Myeloid Leukemia (AML) or Myelodysplastic Syndrome (MDS)	Completed	NCT01700673	Phase 2	Azacitidine
46	A Phase II, Randomized Trial of Standard of Care, With or Without Midostaruin to Prevent Relapse Following Allogeneic Hematopoietic Stem Cell Transplantation in Patients With FLT3-ITD Mutated Acute Myeloid Leukemia	Completed	NCT01883362	Phase 2	Midostaurin
47	Zevalin/BEAM/Rituximab vs BEAM/Rituximab With or Without Rituximab Maintenance in Autologous Stem Cell Transplantation for Diffuse Large B-Cell Lymphomas	Completed	NCT00591630	Phase 2	Zevalin;Carmustine;Etoposide;Cytarabine;Melphalan;Rituximab
48	Adoptive Immunotherapy With CD25/71 Allodepleted Donor T Cells to Improve Immunity After Unrelated Donor Stem Cell Transplant	Completed	NCT01827579	Phase 1, Phase 2
49	Allogeneic Stem Cell Transplantation With Treosulfan, VP-16 and Cyclophosphamide for Patients With Acute Lymphoblastic Leukemia (ALL) Not Eligible for TBI-containing Conditioning Regimen: A Phase II-study	Completed	NCT00682305	Phase 2
50	A Phase II Trial of Post-Transplant Cyclophosphamide and Sirolimus for Graft-versus-host Disease (GVHD) Prophylaxis Following Reduced Intensity Allogeneic Hematopoietic Stem Cell Transplantation	Completed	NCT01244906	Phase 2

Search NIH Clinical Center for Scott Syndrome

Cochrane evidence based reviews: scott syndrome

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Genetic Tests for Scott Syndrome

Genetic tests related to Scott Syndrome:

#	Genetic test	Affiliating Genes
1	Scott Syndrome ²⁹	ANO6

Sources

Anatomical Context for Scott Syndrome

MalaCards organs/tissues related to Scott Syndrome:

⁴⁰

Myeloid, T Cells, Spinal Cord, Liver, Bone Marrow, Bone, Prostate

Sources

Publications for Scott Syndrome

Articles related to Scott Syndrome:

(show top 50) (show all 582)

#	Title	Authors	PMID	Year
1	Calcium-dependent phospholipid scrambling by TMEM16F. ⁶ ⁵⁷ ⁶¹	Suzuki J...Nagata S	21107324	2010
2	Production and characterization of transformed B-lymphocytes expressing the membrane defect of Scott syndrome. ⁶¹ ⁵⁷ ⁶	Kojima H...Wiedmer T	7989579	1994
3	A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. ⁵⁷ ⁵⁴ ⁶¹	Albrecht C...Higgins CF	15790791	2005
4	Store-mediated calcium entry in the regulation of phosphatidylserine exposure in blood cells from Scott patients. ⁶¹ ⁵⁷	Munnix IC...Bevers EM	12669124	2003
5	A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity. ⁵⁷ ⁶¹	Brooks MB...Lovaglio J	11895776	2002
6	Scott syndrome erythrocytes contain a membrane protein capable of mediating Ca2+-dependent transbilayer migration of membrane phospholipids. ⁵⁷ ⁶¹	Stout JG...Sims PJ	9151796	1997
7	Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder. ⁶¹ ⁵⁷	Toti F...Freyssinet JM	8608230	1996
8	Scott syndrome: a disorder of platelet coagulant activity. ⁵⁷ ⁶¹	Weiss HJ	7831576	1994
9	Platelet receptor-mediated factor X activation by factor IXa. High-affinity factor IXa receptors induced by factor VIII are deficient on platelets in Scott syndrome. ⁵⁷ ⁶¹	Ahmad SS...Walsh PN	2547839	1989
10	Isolation of an erythrocyte membrane protein that mediates Ca2+-dependent transbilayer movement of phospholipid. ⁵⁷	Basse F...Wiedmer T	8663431	1996
11	Impaired factor X and prothrombin activation associated with decreased phospholipid exposure in platelets from a patient with a bleeding disorder. ⁵⁷	Rosing J...Zwaal RF	3995186	1985
12	Familial haemostatic defect associated with reduced prothrombin consumption. ⁵⁷	Parry DH...Bloom AL	7378303	1980
13	Deficiency of factor Xa-factor Va binding sites on the platelets of a patient with a bleeding disorder. ⁵⁷	Miletich JP...Majerus PW	497393	1979
14	Isolated deficiency of platelet procoagulant activity. ⁵⁷	Weiss HJ...Rogers J	572637	1979
15	Properties of the factor Xa binding site on human platelets. ⁵⁷	Miletich JP...Majerus PW	690132	1978
16	Interaction of coagulation factor Xa with human platelets. ⁵⁷	Miletich JP...Majerus PW	333455	1977
17	An atypical genetic haemorrhagic disease with increased concentration of a natural inhibitor of prothrombin consumption. ⁵⁷	Robinson AJ...Douglas AS	6029953	1967
18	Impaired platelet procoagulant mechanisms in patients with bleeding disorders. ⁵⁴ ⁶¹	Weiss HJ	19408196	2009
19	Molecular defects in the ABCA1 pathway affect platelet function. ⁶¹ ⁵⁴	Schmitz G...Schambeck CM	16855366	2006
20	Platelet factor V New York: a defect in factor V distinct from that in factor V Quebec resulting in impaired prothrombinase generation. ⁶¹ ⁵⁴	Weiss HJ...Hayward CP	11421293	2001
21	Characterization of a novel bleeding disorder with isolated prolonged bleeding time and deficiency of platelet microvesicle generation. ⁶¹ ⁵⁴	Castaman G...Rodeghiero F	9054648	1997
22	Platelet prothrombinase activity and intracellular calcium responses in patients with storage pool deficiency, glycoprotein IIb-IIIa deficiency, or impaired platelet coagulant activity--a comparison with Scott syndrome. ⁶¹ ⁵⁴	Weiss HJ...Lages B	9057642	1997
23	Defective Ca(2+)-induced microvesiculation and deficient expression of procoagulant activity in erythrocytes from a patient with a bleeding disorder: a study of the red blood cells of Scott syndrome. ⁶¹ ⁵⁴	Bevers EM...Sims PJ	1730083	1992
24	Increased Intracranial Pressure Without Hydrocephalus Associated With Spinal Cord Tumor: Literature Review. ⁶¹	Zhou Y...Lee MS	32826715	2021
25	Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy. ⁶¹	Nurden P...Nurden AT	33147934	2021
26	Comparative evaluation between one ultrasonic and two single-probe dual energy lithotripters: in vitro and in vivo experiment in a porcine model. ⁶¹	Lattarulo M...Kallidonis P	33573470	2021
27	Syncytialization and prolonged exposure to palmitate impacts BeWo respiration. ⁶¹	Easton ZJW...Regnault TRH	33151905	2021
28	Outcomes of repeat sweat testing in cystic fibrosis newborn screen positive infants. ⁶¹	Bauer SE...Ren CL	33512069	2021
29	Assessment of daily dose accumulation for robustly optimized intensity modulated proton therapy treatment of prostate cancer. ⁶¹	Xu Y...Dogan N	33445124	2021
30	Failure of multiple surgical procedures and adjuvant chemotherapy in early-stage steroid-cell ovarian tumor treatment: a case report and literature review. ⁶¹	Vasilevska D...Semczuk A	33435776	2021
31	Deep learning-based synthetic CT generation for paediatric brain MR-only photon and proton radiotherapy. ⁶¹	Maspero M...Philippens MEP	32976877	2020
32	Are script concordance tests suitable for the assessment of undergraduate students? A multicenter comparative study. ⁶¹	Cohen Aubart F...Roux D	33288231	2020
33	Cervical Spinal Cord Transcutaneous Stimulation Improves Upper Extremity and Hand Function in People With Complete Tetraplegia: A Case Study. ⁶¹	Zhang F...Forrest GF	33382659	2020
34	Comparison of the suitability of CBCT- and MR-based synthetic CTs for daily adaptive proton therapy in head and neck patients. ⁶¹	Thummerer A...Knopf AC	33179874	2020
35	Improved treatment completion for tuberculosis patients: The case for a dedicated social care team. ⁶¹	Izzard A...Lipman M	33359406	2020
36	A five-year cohort study on testicular tumors from a population-based canine cancer registry in central Italy (Umbria). ⁶¹	Manuali E...Mechelli L	33229065	2020
37	Malignant recurrence after mature Sacrococcygeal teratoma: A meta-analysis and review of the literature. ⁶¹	Kops AL...Wijnen MH	33142194	2020
38	Fetal teratomas - A retrospective observational single-center study. ⁶¹	Simonini C...Geipel A	33242216	2020
39	Multicentre, deep learning, synthetic-CT generation for ano-rectal MR-only radiotherapy treatment planning. ⁶¹	Bird D...Henry AM	33264638	2020
40	Platelet immunophenotyping in health and inherited bleeding disorders, a review and practical hints. ⁶¹	Fouassier M...Bene MC	32516490	2020
41	Long-term functional outcome of sacrococcygeal teratoma after resection in neonates and infants: a single-center experience. ⁶¹	Masahata K...Usui N	32990839	2020
42	[Second Survey on Patient-centred Care of Ocular Graft-versus-Host Disease in Germany]. ⁶¹	Faust C...Steven P	31075805	2020
43	Filling ability of three variants of the single-cone technique with bioceramic sealer: a micro-computed tomography study. ⁶¹	Angerame D...Bedini R	33089362	2020
44	Differential Activation of Immune Effector Processes in Mature Compared to Immature Sacrococcygeal Teratomas. ⁶¹	Hambraeus M...Gisselsson D	33063585	2020
45	Gene of the issue: ANO6 and Scott Syndrome. ⁶¹	Millington-Burgess SL...Harper MT	31746257	2020
46	The Syrian Center for Tobacco Studies-13 (SCTS-13): Psychometric evaluation of a waterpipe-specific nicotine dependence instrument. ⁶¹	Alam MM...Maziak W	32738447	2020
47	Long-Term Review of Penetrating Keratoplasty: A 20-Year Review in Asian Eyes. ⁶¹	Anshu A...Tiang Hwee TD	33129808	2020
48	Significant rate of lower urinary tract dysfunction in patients with sacrococcygeal teratomas. ⁶¹	Rehfuss A...Ching C	32563692	2020
49	Comparison of the outcomes after haploidentical and cord blood salvage transplantations for graft failure following allogeneic hematopoietic stem cell transplantation. ⁶¹	Harada K...transplant complications working group of the Japan Society for Hematopoietic Cell Transplantation	32051535	2020
50	The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing. ⁶¹	Bae GY...Jin DK	33067218	2020

Sources

Genes for Scott Syndrome

Genes related to Scott Syndrome (1 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ANO6	Anoctamin 6	Protein Coding	1384.8	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)	7989579 21107324
2	FGD1	FYVE, RhoGEF And PH Domain Containing 1	Protein Coding	51.47	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
3	F10	Coagulation Factor X	Protein Coding	21.53	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	1730083 9054648 19408196 (more) 11421293
4	F2	Coagulation Factor II, Thrombin	Protein Coding	20.01	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	9057642
5	ABCA1	ATP Binding Cassette Subfamily A Member 1	Protein Coding	19.65	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	15790791 16855366
6	TNXA	Tenascin XA (Pseudogene)	Pseudogene	15.82	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	1730083 9057642
7	PLSCR1	Phospholipid Scramblase 1	Protein Coding	13	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	XYLT1	Xylosyltransferase 1	Protein Coding	11.96	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	SCTR	Secretin Receptor	Protein Coding	7.73	DISEASES inferred ¹⁵
10	ANO2	Anoctamin 2	Protein Coding	7.34	DISEASES inferred ¹⁵
11	ANO10	Anoctamin 10	Protein Coding	6.95	DISEASES inferred ¹⁵
12	ANO9	Anoctamin 9	Protein Coding	6.95	DISEASES inferred ¹⁵
13	ARHGEF2	Rho/Rac Guanine Nucleotide Exchange Factor 2	Protein Coding	6.88	GeneCards inferred via : Publications (show sections)
14	PLEK	Pleckstrin	Protein Coding	6.88	GeneCards inferred via : Publications (show sections)
15	PTPN3	Protein Tyrosine Phosphatase Non-Receptor Type 3	Protein Coding	6.88	GeneCards inferred via : Publications (show sections)
16	ANO3	Anoctamin 3	Protein Coding	6.71	DISEASES inferred ¹⁵
17	ANO1	Anoctamin 1	Protein Coding	6.62	DISEASES inferred ¹⁵
18	XKR8	XK Related 8	Protein Coding	6.62	DISEASES inferred ¹⁵
19	LCMT1-AS2	LCMT1 Antisense RNA 2	RNA Gene	6.53	DISEASES inferred ¹⁵
20	ANO8	Anoctamin 8	Protein Coding	6.46	DISEASES inferred ¹⁵
21	ANO7	Anoctamin 7	Protein Coding	6.39	DISEASES inferred ¹⁵
22	ANO5	Anoctamin 5	Protein Coding	6.37	DISEASES inferred ¹⁵

Sources

Variations for Scott Syndrome

ClinVar genetic disease variations for Scott Syndrome:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ANO6	ANO6, IVS12AS, G-T, -1	SNV	Pathogenic	30740

Sources

Expression for Scott Syndrome

Search GEO for disease gene expression data for Scott Syndrome.

Sources

Pathways for Scott Syndrome

Pathways related to Scott Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁵ Show member pathways Bicarbonate transporters ⁶⁵ Cation-coupled Chloride cotransporters ⁶⁵ Class II GLUTs ⁶⁵ Facilitative Na+-independent glucose transporters ⁶⁵ Inositol transporters ⁶⁵ Multifunctional anion exchangers ⁶⁵ Na+/Cl- dependent neurotransmitter transporters ⁶⁵ Na+-dependent glucose transporters ⁶⁵ Organic anion transport ⁶⁵ Organic anion transporters ⁶⁵ Organic cation transport ⁶⁵ Organic cation/anion/zwitterion transport ⁶⁵ Proton/oligopeptide cotransporters ⁶⁵ Proton-coupled monocarboxylate transport ⁶⁵ Rhesus glycoproteins mediate ammonium transport. ⁶⁵ SLC-mediated transmembrane transport ⁶⁵ Sodium/Calcium exchangers ⁶⁵ Sodium/Proton exchangers ⁶⁵ Sodium-coupled phosphate cotransporters ⁶⁵ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁵ Transmembrane transport of small molecules ⁶⁵ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁵ Type II Na+/Pi cotransporters ⁶⁵	12.63	ANO9 ANO8 ANO6 ANO3 ANO2 ANO10
2	Ion channel transport ⁶⁵ Show member pathways Stimuli-sensing channels ⁶⁵	11.66	ANO9 ANO8 ANO6 ANO3 ANO2 ANO10
3	Warfarin Pathway, Pharmacodynamics ⁶⁰	10.33	F2 F10

Sources

GO Terms for Scott Syndrome

Cellular components related to Scott Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	10.03	XYLT1 XKR8 SCTR PLSCR1 ANO9 ANO8
2	membrane	GO:0016020	10.03	XYLT1 XKR8 SCTR PTPN3 PLSCR1 PLEK
3	plasma membrane	GO:0005886	9.53	XKR8 SCTR PTPN3 PLSCR1 PLEK F2
4	chloride channel complex	GO:0034707	9.13	ANO6 ANO2 ANO1

Biological processes related to Scott Syndrome according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transport	GO:0055085	9.92	ANO9 ANO8 ANO6 ANO3 ANO2 ANO10
2	lipid transport	GO:0006869	9.71	ANO9 ANO6 ANO3 ABCA1
3	ion transmembrane transport	GO:0034220	9.7	ANO9 ANO8 ANO6 ANO3 ANO2 ANO10
4	cation transport	GO:0006812	9.69	ANO6 ANO10 ANO1
5	calcium activated phospholipid scrambling	GO:0061588	9.54	ANO9 ANO6 ANO3
6	phosphatidylserine exposure on apoptotic cell surface	GO:0070782	9.49	XKR8 PLSCR1
7	phospholipid scrambling	GO:0017121	9.48	PLSCR1 ANO6
8	calcium activated galactosylceramide scrambling	GO:0061591	9.46	ANO9 ANO3
9	calcium activated phosphatidylserine scrambling	GO:0061589	9.43	ANO9 ANO6
10	calcium activated phosphatidylcholine scrambling	GO:0061590	9.43	ANO9 ANO6 ANO3
11	chloride transport	GO:0006821	9.43	ANO9 ANO8 ANO6 ANO2 ANO10 ANO1
12	chloride transmembrane transport	GO:1902476	9.17	ANO9 ANO8 ANO6 ANO3 ANO2 ANO10

Molecular functions related to Scott Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein dimerization activity	GO:0046983	9.62	ANO6 ANO3 ANO2 ANO1
2	chloride channel activity	GO:0005254	9.55	ANO9 ANO6 ANO3 ANO2 ANO1
3	calcium activated cation channel activity	GO:0005227	9.43	ANO6 ANO10 ANO1
4	voltage-gated chloride channel activity	GO:0005247	9.37	ANO6 ANO1
5	phospholipid scramblase activity	GO:0017128	9.26	PLSCR1 ANO9 ANO6 ANO3
6	intracellular calcium activated chloride channel activity	GO:0005229	9.17	ANO9 ANO8 ANO6 ANO3 ANO2 ANO10

Sources

Sources for Scott Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Scott Syndrome (SCTS)

Aliases & Classifications for Scott Syndrome

MalaCards integrated aliases for Scott Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Scott Syndrome

Related Diseases for Scott Syndrome

Diseases related to Scott Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Scott Syndrome:

Symptoms & Phenotypes for Scott Syndrome

Human phenotypes related to Scott Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Scott Syndrome

Drugs for Scott Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: scott syndrome

Genetic Tests for Scott Syndrome

Genetic tests related to Scott Syndrome:

Anatomical Context for Scott Syndrome

MalaCards organs/tissues related to Scott Syndrome:

Publications for Scott Syndrome

Articles related to Scott Syndrome:

Genes for Scott Syndrome

Genes related to Scott Syndrome (1 elite genes):

Variations for Scott Syndrome

ClinVar genetic disease variations for Scott Syndrome:

Expression for Scott Syndrome

Pathways for Scott Syndrome

Pathways related to Scott Syndrome according to GeneCards Suite gene sharing:

GO Terms for Scott Syndrome

Cellular components related to Scott Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Scott Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Scott Syndrome according to GeneCards Suite gene sharing:

Sources for Scott Syndrome