STAR
MCID: TSY002
MIFTS: 52

Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (STAR)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

MalaCards integrated aliases for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

Name: Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 57 12 72 44 70
Star Syndrome 57 12 20 58 72 36 13 39
Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome 12 58 29 6 15
Syndactyly with Renal and Anogenital Malformations 57 12 72
Star 57 72
Toe Syndactyly, Telecanthus, Anogenital and Renal Malformations 20
Syndactyly, Telecanthus, Anogenital and Renal Malformations 20

Characteristics:

Orphanet epidemiological data:

58
syndactyly-telecanthus-anogenital and renal malformations syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked dominant

Miscellaneous:
specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features


HPO:

31
toe syndactyly, telecanthus, and anogenital and renal malformations:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

GARD : 20 STAR syndrome is a very rare syndrome that affects many parts of the body. "STAR" is an acronym for the primary signs and symptoms of the syndrome: S yndactyly - webbed or conjoined fingers or toes (the toes are particularly affected in this syndrome). T elecanthus - increased distance between the inner corners of the eyes. A nogenital malformations - abnormal formation of the anus and/or genitals. R enal malformations. - abnormal formation of the kidneys. However, some people with STAR syndrome have had a variety of additional features affecting many parts of the body. STAR syndrome may be caused by a mutation or deletion affecting the FAM58A gene, also called the CCNQ gene. In some cases, other features may be due to larger deletions that involve other genes besides the FAM58A gene. Additional features that have been reported include other skeletal abnormalities, hearing loss, epilepsy, ocular abnormalities, syringomyelia, tethered spinal cord, and various other birth defects. Inheritance of STAR syndrome is X-linked dominant. The syndrome is thought to be lethal in male embryos; only females with STAR syndrome have been reported. Treatment depends on the specific features and severity in each person.

MalaCards based summary : Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations, also known as star syndrome, is related to telecanthus and lipoid congenital adrenal hyperplasia. An important gene associated with Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations is CCNQ (Cyclin Q). The drugs Citalopram and Azithromycin have been mentioned in the context of this disorder. Affiliated tissues include kidney, spinal cord and heart, and related phenotypes are short stature and anal atresia

Disease Ontology : 12 A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has material basis in heterozygous mutation in FAM58A on chromosome Xq28.

KEGG : 36 STAR syndrome is an X-linked dominant disorder caused by mutations in the cyclin family member FAM58A characterized by syndactyly, telecanthus, and anogenital and renal malformations. The cardinal features of this syndrome are a characteristic facial appearance with apparent telecanthus and broad tripartite nasal tip, variable syndactyly of toes 2-5, hypoplastic labia, anal atresia, and urogenital malformations.

UniProtKB/Swiss-Prot : 72 Toe syndactyly, telecanthus, and anogenital and renal malformations: A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus.

Wikipedia : 73 STAR syndrome is a rare X-linked dominant disorder. Its core features include toe syndactyly,... more...

More information from OMIM: 300707

Related Diseases for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Diseases related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 543)
# Related Disease Score Top Affiliating Genes
1 telecanthus 29.8 SALL1 CCNQ
2 lipoid congenital adrenal hyperplasia 11.5
3 familial glucocorticoid deficiency 11.2
4 polycystic ovary syndrome 11.2
5 endometriosis 11.1
6 choreoacanthocytosis 11.0
7 mcleod syndrome 11.0
8 malignant astrocytoma 11.0
9 hypoadrenocorticism, familial 11.0
10 adrenal cortical carcinoma 11.0
11 leydig cell tumor 11.0
12 premature menopause 11.0
13 body mass index quantitative trait locus 11 11.0
14 adrenal hypoplasia, congenital 11.0
15 46,xy sex reversal 11.0
16 pseudohermaphroditism 11.0
17 smith-lemli-opitz syndrome 11.0
18 ovarian disease 11.0
19 adrenal carcinoma 11.0
20 classic congenital lipoid adrenal hyperplasia due to star deficency 10.9
21 non-classic congenital lipoid adrenal hyperplasia due to star deficency 10.9
22 ehrlichiosis 10.9
23 glioma 10.9
24 46,xy sex reversal 2 10.9
25 disorder of sexual development 10.9
26 aplasia cutis congenita, nonsyndromic 10.9
27 williams-beuren syndrome 10.9
28 abetalipoproteinemia 10.9
29 cataract 3, multiple types 10.9
30 human granulocytic anaplasmosis 10.9
31 anaplastic astrocytoma 10.9
32 cryptorchidism, unilateral or bilateral 10.9
33 corticosterone methyloxidase type i deficiency 10.8
34 amelogenesis imperfecta, type ig 10.8
35 achalasia-addisonianism-alacrima syndrome 10.8
36 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.8
37 adrenal cortical hypofunction 10.8
38 steroid inherited metabolic disorder 10.8
39 amelogenesis imperfecta 10.8
40 adrenal cortex disease 10.8
41 adrenal gland disease 10.8
42 major depressive disorder 10.6
43 mental depression 10.6
44 depression 10.5
45 rapidly involuting congenital hemangioma 10.2
46 hypoglycemia 10.2
47 atrial fibrillation 10.2
48 neuroretinitis 10.2
49 ocular motor apraxia 10.2
50 exanthem 10.1

Graphical network of the top 20 diseases related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:



Diseases related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations

Symptoms & Phenotypes for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Human phenotypes related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 anal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002023
3 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
4 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
5 lop ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000394
6 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
7 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
8 horseshoe kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000085
9 ectopic kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000086
10 labial hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000066
11 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
12 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
13 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
14 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
15 telecanthus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000506
16 renal agenesis 58 31 frequent (33%) Frequent (79-30%) HP:0000104
17 bicornuate uterus 58 31 frequent (33%) Frequent (79-30%) HP:0000813
18 clitoral hypertrophy 31 frequent (33%) HP:0008665
19 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
20 pulmonary artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004415
21 hypoplasia of the radius 58 31 occasional (7.5%) Occasional (29-5%) HP:0002984
22 mitral atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011560
23 aortic regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001659
24 syringomyelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003396
25 macular dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007754
26 craniosynostosis 31 occasional (7.5%) HP:0001363
27 abnormality of the pinna 31 occasional (7.5%) HP:0000377
28 seizure 31 occasional (7.5%) HP:0001250
29 eyelid coloboma 31 occasional (7.5%) HP:0000625
30 low-set ears 31 very rare (1%) HP:0000369
31 seizures 58 Occasional (29-5%)
32 intrauterine growth retardation 31 HP:0001511
33 bicuspid aortic valve 31 HP:0001647
34 cleft eyelid 58 Occasional (29-5%)
35 pelvic kidney 31 HP:0000125
36 broad forehead 31 HP:0000337
37 spina bifida occulta 31 HP:0003298
38 peripheral pulmonary artery stenosis 31 HP:0004969
39 clitoromegaly 58 Frequent (79-30%)
40 rectovaginal fistula 31 HP:0000143
41 anal stenosis 31 HP:0002025
42 retinal dystrophy 58 Occasional (29-5%)
43 small for gestational age 31 HP:0001518
44 broad nasal tip 31 HP:0000455
45 duane anomaly 31 HP:0009921
46 narrow nose 31 HP:0000460

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
bicuspid aortic valve
persistent foramen ovale
congenital heart disease (in some patients)

Head And Neck Eyes:
telecanthus
duane anomaly (in 1 patient)

Cardiovascular Vascular:
peripheral pulmonary artery stenosis

Abdomen Gastrointestinal:
rectovaginal fistula
anal stenosis

Head And Neck Nose:
broad nasal tip
narrow nose

Skeletal Hands:
fifth finger clinodactyly

Skeletal Skull:
craniosynostosis (in some patients)

Growth Other:
intrauterine growth retardation (iugr)

Head And Neck Face:
square broad forehead

Skeletal Spine:
spina bifida occulta (in 1 patient)
cervical vertebrae with bifid posterior arch (in 1 patient)

Genitourinary Ureters:
vesicoureteral reflux

Genitourinary Kidneys:
pelvic kidney
solitary kidney
hydronephrotic kidney

Genitourinary External Genitalia Female:
clitoromegaly
hypoplastic labia

Genitourinary Internal Genitalia Female:
rectovaginal fistula
bicornuate uterus
duplicated vagina

Head And Neck Mouth:
thin upper lip

Growth Weight:
low birth weight

Head And Neck Ears:
dysplastic ears (in some patients)
lop ears (in some patients)
low-set ears (in some patients)

Growth Height:
short stature (adult height <3rd centile)

Genitourinary Bladder:
small unstable bladder

Skeletal Feet:
syndactyly of toes (not 2-3)
delta-shaped metatarsals
dysplastic ankle (in 1 patient)

Clinical features from OMIM®:

300707 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 9.76 CCNL2 PKN2 SALL1 SCUBE1
2 Decreased homologous recombination repair frequency GR00236-A-2 9.76 CCNL2 PKN2 SALL1 SCUBE1
3 Increased homologous recombination repair frequency GR00236-A-1 8.96 ZDHHC9
4 Increased homologous recombination repair frequency GR00236-A-2 8.96 ZDHHC9
5 Increased viability with 4OH tamoxifen GR00200-A 8.62 CDK10 CDK11A

MGI Mouse Phenotypes related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.36 ARL13B BCL2L12 CCNQ CDK10 CYS1 ETS2

Drugs & Therapeutics for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Drugs for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 251)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2
Azithromycin Approved Phase 4 83905-01-5 55185 447043
3
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
4
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
5
Hydroxychloroquine Approved Phase 4 118-42-3 3652
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Certolizumab pegol Approved Phase 4 428863-50-7
9
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
10
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
11
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
12
Sulfasalazine Approved Phase 4 599-79-1 5353980 5359476
13
Ethanol Approved Phase 4 64-17-5 702
14
Dexetimide Withdrawn Phase 4 21888-98-2
15
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
16 Anti-Infective Agents Phase 4
17 Hormones Phase 4
18 Methylprednisolone Acetate Phase 4
19 Antiemetics Phase 4
20 Neuroprotective Agents Phase 4
21 Hormone Antagonists Phase 4
22 glucocorticoids Phase 4
23
Metoprolol Approved, Investigational Phase 2, Phase 3 51384-51-1, 37350-58-6 4171
24
Verapamil Approved Phase 2, Phase 3 52-53-9 2520
25
Atorvastatin Approved Phase 3 134523-00-5 60823
26
Chromium Approved Phase 3 7440-47-3 27668
27
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
28
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
29
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
30
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585 135398745
31
Aripiprazole Approved, Investigational Phase 3 129722-12-9 60795
32
Tamoxifen Approved Phase 3 10540-29-1 2733526
33
Edoxaban Approved Phase 3 480449-70-5
34
Enoxaparin Approved Phase 3 9005-49-6 772
35
Rilpivirine Approved Phase 3 500287-72-9 6451164
36
Sofosbuvir Approved Phase 3 1190307-88-0 45375808
37
Ledipasvir Approved Phase 3 1256388-51-8 67505836
38
Cobicistat Approved Phase 3 1004316-88-4
39
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
40
Pravastatin Approved Phase 3 81093-37-0 54687
41
Esomeprazole Approved, Investigational Phase 3 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
42
Ranibizumab Approved Phase 3 347396-82-1 459903
43
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
44
rituximab Approved Phase 3 174722-31-7 10201696
45
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
46
Bevacizumab Approved, Investigational Phase 3 216974-75-3
47
Lomustine Approved, Investigational Phase 3 13010-47-4 3950
48
Temozolomide Approved, Investigational Phase 3 85622-93-1 5394
49
Tenofovir Experimental, Investigational Phase 3 147127-20-6 464205
50
Dianhydrogalactitol Investigational Phase 3 23261-20-3

Interventional clinical trials:

(show top 50) (show all 200)
# Name Status NCT ID Phase Drugs
1 Phase IV Clinical Trial (STAR Study) Extension Study of Conbercept Ophthalmic Injection for Treatment of Polypoid Choroidal Vasculopathy Unknown status NCT03244657 Phase 4 conbercept ophthalmic injection (0.5mg);conbercept ophthalmic injection (0.5mg)
2 K-STAR (Kremezin STudy Against Renal Disease Progression in Korea) Randomized, Open-label, Controlled Study Completed NCT00860431 Phase 4 AST-120
3 Evaluation of Outcomes Using the AMO Advanced Customvue™ iLasik Procedure (Wavescan Wavefront® System, Star S4 IR™ Excimer Laser System and Intralse™ FS System) Completed NCT01061294 Phase 4
4 Response Variability in Treatment Resistant Depression - an Ancillary Study to "Sequenced Treatment Alternatives to Relieve Depression (STAR*D)" Completed NCT00375843 Phase 4 Escitalopram;Sertraline
5 Trial of Antibiotics to Reduce Recurrent Trichiasis (STAR) Completed NCT00347776 Phase 4 azithromycin;topical tetracycline
6 Identification, Electro-mechanical Characterisation and Ablation of Driver Regions in Persistent Atrial Fibrillation (STAR MAPPING) Recruiting NCT02950844 Phase 4
7 A Multicenter, Randomized, Open-label, Blinded-assessor, Follow-up, Phase 4 Study in Patients With Rheumatoid Arthritis Who Have Completed the Initial Treatment Part in the NORD-STAR Study and Have Reached Stable Low Disease Activity Active, not recruiting NCT02466581 Phase 4 Sulphasalazine + Hydroxychloroquine OR Prednisolone
8 Community I-STAR Mozambique: Community Implementation of SBIRT Using Technology for Alcohol Use Reduction in Mozambique Not yet recruiting NCT03610815 Phase 4
9 A Randomized Comparison of Percutaneous CLip-based Vascular Occluder (Star-Close) Versus Bio-absorble Hemostatic Device (Angio-SEal) for Femoral Artery Hemostasis After Percutaneous Coronary Intervention Withdrawn NCT00590356 Phase 4
10 Radiofrequency Ablation of Symptomatic Frequent Ventricular Premature Complexes as a First-line Therapy in Pediatric Population Without Structural Heart Disease Unknown status NCT02772354 Phase 2, Phase 3 Metoprolol;Verapamil
11 The Effect of Inhaled Hypertonic Saline (7%) Versus Normal Saline (0.9%) on the Lung Clearance Index in Patients With Cystic Fibrosis Completed NCT00635141 Phase 3 hypertonic saline (7 %) and isotonic saline (0.9%);hypertonic saline (7 %) and isotonic saline (0.9%)
12 Investigational Device Exemption for the Scandinavian Total Ankle Replacement (STAR) - Bilateral Arm Completed NCT00586781 Phase 3
13 A Prospective Study to Evaluate the Safety and Effectiveness of Wavefront-Guided LASIK Correction of Myopic Refractive Errors With the iDesign Advanced Wavescan Studio™ System and Star S4IR™ Excimer Laser Completed NCT01663363 Phase 3
14 A Multicenter, Randomized, Naturalistic, Open-Label Study Between Aripiprazole and Standard of Care in the Management of Community-Treated Schizophrenic Patients (Schizophrenia Trial of Aripiprazole - STAR) Completed NCT00237913 Phase 3 Aripiprazole;Olanzapine or Quetiapine or Risperidone
15 Study of Tamoxifen and Raloxifene (STAR) for the Prevention of Breast Cancer Completed NCT00003906 Phase 3 Raloxifene;Tamoxifen
16 The Benefit of STent Placement and Blood Pressure and Lipid-Lowering for the Prevention of Progression of Renal Dysfunction Caused by Atherosclerotic Ostial Stenosis of the Renal Artery (STAR) Completed NCT00150943 Phase 3
17 Behavioral Therapy to Treat Urinary Symptoms in Parkinson Disease Completed NCT01520948 Phase 3
18 A Phase 3b Randomized, Open-label, Controlled Study of the Efficacy, Safety and Tolerability of 12 Weeks of Ledipasvir/Sofosbuvir (LDV/SOF) Treatment for HIV/HCV Co-infected Subjects Who Switch to Elvitegravir/Cobicistat/Emtricitabine/Tenofovir Alafenamide (E/C/F/TAF) or Emtricitabine/Rilpivirine/Tenofovir Alafenamide (F/R/TAF) Prior to LDV/SOF HCV Treatment, the HIV/HCV Co-STARs Study (Co-infection Treatment With Single Tablet Antiviral Regimens) Completed NCT02707601 Phase 3 E/C/F/TAF;F/R/TAF;LDV/SOF
19 A Phase 3, Randomized, Double-Blind, Double-Dummy Efficacy and Safety Study of the Oral Factor Xa Inhibitor DU-176b Compared With Enoxaparin Sodium for Prevention of Venous Thromboembolism in Patients After Total Hip Arthroplasty (STARS J-5 Trial) Completed NCT01181167 Phase 3 edoxaban;enoxaparin sodium
20 A Phase 3, Randomized, Open Label, Safety and Efficacy Study of the Oral Factor Xa Inhibitor DU-176b Compared With Enoxaparin Sodium for Prevention of Venous Thromboembolism in Patients After Hip Fracture Surgery (STARS J-4 Trial) Completed NCT01181141 Phase 3 DU-176b (edoxaban);Enoxaparin sodium 20mg
21 A Phase 3, Randomized, Double-Blind, Double-Dummy Efficacy and Safety Study of the Oral Factor Xa Inhibitor DU-176b Compared With Enoxaparin Sodium for Prevention of Venous Thromboembolism in Patients After Total Knee Arthroplasty (STARS E-3 Trial) Completed NCT01181102 Phase 3 edoxaban;enoxaparin sodium
22 Effect of 3-hydroxy-3-methylglutaryl-coenzyme A(HMG-CoA) Reductase Inhibitor Upon the Serum High Sensitive CRP in the Post-ischemic Patients With Hyperlipidemia During the Prospective Study of J-STARS. Completed NCT00361699 Phase 3 Statin
23 Effect of 3-hydroxy-3-methylglutaryl-coenzyme A(HMG-CoA) Reductase Inhibitor Upon Carotid Intima-media Complex Thickness in the Post-ischemic Patients With Hyperlipidemia During the Prospective Study of J-STARS. Completed NCT00361530 Phase 3 Statin
24 Supportive Test for Acid-Related Symptoms (STARS II) With Esomeprazole and a Following 7-week, Double-blind, Randomized, Placebo Controlled Treatment Period in Uninvestigated Subjects With Upper Gastrointestinal Symptoms. Completed NCT00251992 Phase 3 Esomeprazole
25 Supportive Test for Acid-Related Symptoms (STARS I) With Esomeprazole and a Following 7-week, Double-blind, Randomized, Placebo Controlled Treatment Period in Subjects With Upper Gastrointestinal Symptoms and With Normal Findings at Esophagogastroduodenoscopy. Completed NCT00251914 Phase 3 Esomeprazole
26 Transurethral En Bloc Versus Standard Resection of Bladder Tumour: A Multi-centre Randomised Controlled Trial (EB-StaR Study). Recruiting NCT02993211 Phase 3
27 StereoTactic Radiotherapy for Wet Age-Related Macular Degeneration (STAR): A Randomised, Double-masked, Sham-controlled, Clinical Trial Comparing Low-voltage X-ray Irradiation With as Needed Ranibizumab, to as Needed Ranibizumab Monotherapy. Active, not recruiting NCT02243878 Phase 3 0.5 mg ranibizumab
28 A Randomized, Double-Blind, Placebo-Controlled, Parallel- Group Study to Evaluate the Efficacy and Safety of BHV-3241 in Subjects With Multiple System Atrophy (M-STAR Study) Active, not recruiting NCT03952806 Phase 3 Verdiperstat;Placebo
29 STAR - Study of TTP and Rituximab, A Randomized Clinical Trial Terminated NCT00799773 Phase 3 Rituximab;Corticosteroids
30 A Pivotal Randomized, Controlled Trial of VAL-083 in Patients With Recurrent Glioblastoma Who Have Failed Standard Temozolomide/Radiation Therapy and Bevacizumab (STAR-3) Terminated NCT03149575 Phase 3 VAL-083, Dianhydrogalactitol;Physician's Choice of Salvage Therapy - temozolomide;Physician's Choice of Salvage Therapy - lomustine;Physician's Choice of Salvage Therapy - carboplatin
31 A Phase 2, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, 7-Day Safety and Tolerability Study of Denufosol Tetrasodium Inhalation Solution Administered Via PARI LC® Star in Patients 2 to 4 Years of Age With Cystic Fibrosis Completed NCT01181622 Phase 2 denufosol tetrasodium Inhalation Solution;0.9% w/v sodium chloride solution
32 A Phase II Study of Oral Tamibarotene in Acute Promyelocytic Leukemia Patients Who Have Received Prior Therapy With ATRA and Arsenic Trioxide (STAR-1) Completed NCT00520208 Phase 2 Tamibarotene
33 STAR: A Phase 2, Multicenter, Randomized, Double-Masked, Placebo-Controlled Study of the Safety and Efficacy of Ataluren (PTC124) for the Treatment of Nonsense Mutation Aniridia Completed NCT02647359 Phase 2 Ataluren;Placebo
34 Ph 1b/2a Study to Assess Levels of INS37217 and Placebo Treatment With Maximum Tolerated Dose Administered by Inhalation Via the Pari LC Star Nebulizer in Adult and Pediatric CF Patients Completed NCT00034515 Phase 1, Phase 2 denufosol tetrasodium (INS37217) Inhalation Solution
35 The Effect Of Kinesio Tape In Chronic Neck Pain: Randomise Controlled Study Completed NCT04279015 Phase 2
36 A Phase 2a, Ascending Dose, Placebo-Controlled Study to Evaluate the Safety of CTX-100 (Formerly ETX-100) Inhalation Solution in Subjects With Chronic Obstructive Pulmonary Disease Completed NCT00993707 Phase 2 CTX-100 (formerly ETX-100) (hyaluronic acid)
37 Substance Treatment Referral System Completed NCT01488630 Phase 2
38 A Phase 2b, Randomized, Multi-Dose Efficacy,Safety Study of the Oral Factor Xa Inhibitor DU-176b Versus Enoxaparin Sodium for Prevention of Venous Thromboembolism in Patients After Total Hip Arthroplasty (STARS J-2) Completed NCT01203098 Phase 2 DU-176b 15mg;DU-176b 30mg;Enoxaparin sodium 20 mg (=2000IU)
39 A Phase 2b, Randomized, Double-Blind, Multi-Dose Efficacy, Safety and Dose-finding Study of the Oral Factor Xa Inhibitor DU-176b Compared With Placebo for Prevention of Venous Thromboembolism in Patients After Total Knee Arthroplasty (STARS J-1) Completed NCT01203072 Phase 2 DU-176b;DU-176b;DU-176b;DU-176b;Placebo
40 STaph Aureus Resistance-Treat Early and Repeat (STAR-TER) Recruiting NCT03489629 Phase 2 Trimethoprim Sulfamethoxazole (TMP/SMX);Minocycline;Mupirocin;Chlorhexidine Gluconate
41 Epstein-Barr Virus DNA to Systemic Therapy for Treatment Adaptation in High Risk Nasopharyngeal Carcinoma (EP-STAR Trial) A Phase II, Multi-center, Biomarker-guided, Umbrella Trial Recruiting NCT04072107 Phase 2 sintilimab;Capecitabine
42 STAR-TREC:Can the Rectum be Saved by Watchful Waiting or TransAnal Surgery Following (Chemo)Radiotherapy Versus Total Mesorectal Excision for Early REctal Cancer Recruiting NCT02945566 Phase 2 Long course concurrent chemoradiation
43 Early HLA Matched Sibling Hematopoietic Stem Cell Transplantation for Children With Sickle Cell Disease: A Sickle Transplant Alliance for Research (STAR) Trial Recruiting NCT04018937 Phase 2 Fludarabine;Alemtuzumab;Melphalan
44 Phase II Open Labeled Trial of Disulfiram With Copper in Metastatic Breast Cancer Recruiting NCT03323346 Phase 2 Disulfiram
45 Efficacy of Deep Anaesthesia With Isoflurane as a Fast-response Antidepressant Agent in Treatment Resistant Depression Patients : Proof of Concept Not yet recruiting NCT04171193 Phase 2 Isoflurane;Sertraline Pill
46 Sarcoidosis, Trial of Abatacept in Refractory Disease (STAR). A Prospective Open-Label Trial of Abatacept in Progressive Sarcoidosis Terminated NCT00739960 Phase 2 Abatacept
47 Early MRSA Therapy in CF - Culture Based vs. Observant Therapy (Treat or Observe) (Star-TOO - STaph Aureus Resistance - Treat or Observe) Terminated NCT01349192 Phase 2 Rifampin;Trimethoprim/Sulfamethoxazole;Minocycline;Mupirocin;chlorhexidine gluconate oral rinse;2% Chlorhexidine solution wipes
48 ASpirin as a Treatment for ARDS (STAR): a Phase 2 Randomised Control Trial Terminated NCT02326350 Phase 2 Aspirin 75mg;Lactose powder
49 A Randomised, Multicentre, Open Label, Phase II Study of Prophylactic Octreotide to Prevent or Reduce the Frequency and Severity of Diarrhoea in Subjects Receiving Lapatinib With Capecitabine for the Treatment of Metastatic Breast Cancer Terminated NCT02294786 Phase 2 Lapatinib;Capecitabine;Octreotide
50 Tumor Ablation in Metastatic Sarcoma Stable on Chemotherapy Terminated NCT01986829 Phase 2

Search NIH Clinical Center for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations

Cochrane evidence based reviews: toe syndactyly, telecanthus, and anogenital and renal malformations

Genetic Tests for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Genetic tests related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

# Genetic test Affiliating Genes
1 Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome 29 CCNQ

Anatomical Context for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

MalaCards organs/tissues related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

40
Kidney, Spinal Cord, Heart, Liver, Skin, Uterus, Lung

Publications for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Articles related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

(show all 12)
# Title Authors PMID Year
1
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. 61 57 6
18297069 2008
2
An autosomal dominant syndrome of renal and anogenital malformations with syndactyly. 57 6
8818947 1996
3
STAR syndrome: a further case and the first report of maternal mosaicism. 61 57
28225384 2017
4
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. 61 20
28322501 2017
5
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness. 61
29130579 2018
6
STAR syndrome plus: The first description of a female patient with the lethal form. 61
29088509 2017
7
The awakening of the CDK10/Cyclin M protein kinase. 61
28178678 2017
8
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. 61
26882209 2016
9
STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis. 61
27104747 2016
10
STAR syndrome is part of the differential diagnosis of females with anorectal malformations. 61
25845904 2015
11
Lily's Story: STAR Syndrome. 61
26225595 2015
12
CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome. 61
24218572 2013

Variations for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

ClinVar genetic disease variations for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCNQ FAM58A, 40-KB DEL Deletion Pathogenic 10671 GRCh37:
GRCh38:
2 CCNQ FAM58A, 4249-BP DEL Deletion Pathogenic 10672 GRCh37:
GRCh38:
3 CCNQ NM_152274.5(CCNQ):c.657+1G>A SNV Pathogenic 10673 rs1569536789 GRCh37: X:152857963-152857963
GRCh38: X:153592505-153592505
4 CCNQ NM_152274.5(CCNQ):c.303dup (p.Asn102Ter) Duplication Pathogenic 10674 rs1569536891 GRCh37: X:152860130-152860131
GRCh38: X:153594672-153594673
5 CCNQ NM_152274.5(CCNQ):c.658-1G>A SNV Pathogenic 10675 rs63749972 GRCh37: X:152853913-152853913
GRCh38: X:153588455-153588455

Copy number variations for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 264713 X 69637575 69638673 Deletion ATP2B3 STAR syndrome
2 264715 X 69637575 69638673 Deletion CCNQ STAR syndrome

Expression for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Search GEO for disease gene expression data for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations.

Pathways for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

GO Terms for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

Cellular components related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 host cell nucleus GO:0042025 8.8 ETS2 CCNQ CCNL2

Biological processes related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 8.8 RABL2B PKN2 CDK10

Molecular functions related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.16 ZDHHC9 TCF25 STAR SCUBE1 SALL1 RABL2B
2 nucleotide binding GO:0000166 9.17 RABL2B PKN2 GK2 CDK11A CDK10 ATP2B3
3 cyclin-dependent protein serine/threonine kinase regulator activity GO:0016538 9.16 CCNQ CCNL2
4 cyclin-dependent protein serine/threonine kinase activity GO:0004693 8.96 CDK11A CDK10

Sources for Toe Syndactyly, Telecanthus, and Anogenital and Renal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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