CPSFS1A
MCID: CNT116
MIFTS: 54

Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a (CPSFS1A)

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

Aliases & Classifications for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

MalaCards integrated aliases for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a:

Name: Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 57 73
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a 57 29 6
Multiple Pterygium Syndrome, Autosomal Dominant 57 73
Autosomal Dominant Multiple Pterygium Syndrome 20 58
Arthrogryposis, Distal, Type 8 73 39
Distal Arthrogryposis Type 8 20 58
Autosomal Dominant Disease 12 15
Cpsfs1a 57 73
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a; Cpskf1a 57
Contractures, Pterygia, and Spondylocarpostarsal Fusion Syndrome 1a 57
Arthrogryposis, Distal, Type 8, Formerly; Da8, Formerly 57
Pterygium Syndrome, Multiple; Autosomal Dominant 57
Pterygium Syndrome, Multiple, Autosomal Dominant 73
Arthrogryposis, Distal, Type 8, Formerly 57
Pterygium Syndrome, Multiple 57
Autosomal Dominant Disorder 15
Autosomal Dominant 57
Da8, Formerly 57
Cpskf1a 57
Da8 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant multiple pterygium syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
inter- and intrafamilial phenotypic variability


HPO:

31
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

OMIM® : 57 Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1A (CPSFS1) is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported (Carapito et al., 2016; Zieba et al., 2017; Cameron-Christie et al., 2018). An autosomal recessive form of CPSFS (CPSFS1B; 618469) is caused by compound heterozygous mutation in the MYH3 gene. (178110) (Updated 05-Mar-2021)

MalaCards based summary : Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a, also known as contractures, pterygia, and variable skeletal fusions syndrome 1a, is related to autosomal dominant cerebellar ataxia and digeorge syndrome. An important gene associated with Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a is MYH3 (Myosin Heavy Chain 3), and among its related pathways/superpathways is MicroRNAs in cancer. The drugs Angiotensin II and Candesartan cilexetil have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and endothelial, and related phenotypes are cleft palate and spondylolisthesis

Disease Ontology : 12 An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.

UniProtKB/Swiss-Prot : 73 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A: An autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported.

Related Diseases for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

Diseases in the Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a family:

Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b

Diseases related to Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 4317)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 33.4 SERPINA3 MIR9-1 MIR24-1 H2AC18 ERCC6 CRYAA
2 digeorge syndrome 32.9 PRODH MIR9-1 MIR24-1 MIR17 H2AC18 DGCR5
3 multiple pterygium syndrome, escobar variant 32.5 MYH3 ERCC6 CRYAA
4 amyotrophic lateral sclerosis 1 32.5 SERPINA3 PRODH MIR9-1 MIR24-1 H2AC18 ERCC6
5 doyne honeycomb retinal dystrophy 32.4 ERCC6 CRYAA CFHR2
6 parkinson disease, late-onset 32.3 SERPINA3 PRODH MIR9-1 MIR24-1 MIR21 MIR124-1
7 fatal familial insomnia 32.3 SERPINA3 PRODH ERCC6
8 lynch syndrome 32.3 MSH2 MIR17 KDM4C H2AC18 ERCC6 APC
9 autosomal recessive disease 32.2 SERPINA3 PRODH MYH3 MIR9-1 H2AC18 ERCC6
10 hypotrichosis 1 32.2 KDM4C H2AC18 CCR6
11 patent ductus arteriosus 1 32.1 PRODH CFHR2 CFAP47
12 chromosome 16p13.3 deletion syndrome, proximal 31.9 MIR9-1 KDM4C H2AC18
13 hereditary lymphedema i 31.9 KDM4C H2AC18 CCR6
14 macular degeneration, age-related, 1 31.7 SERPINA3 H2AC18 ERCC6 CRYAA CFHR2 CCR6
15 peripheral nervous system disease 31.7 SERPINA3 PRODH NF1 MIR9-1 MIR24-1 MIR21
16 bone resorption disease 31.6 SERPINA3 H2AC18 ERCC6 CCR6
17 optic nerve disease 31.5 SERPINA3 NF1 ERCC6 CRYAA CCR6
18 renal cell carcinoma, nonpapillary 31.5 PRODH MIR9-1 MIR21 MIR17 KDM4C H2AC18
19 acute cystitis 31.5 SERPINA3 H2AC18 EPRS1 CCR6
20 colorectal cancer, hereditary nonpolyposis, type 5 31.5 MSH2 APC
21 eye disease 31.5 SERPINA3 PRODH MIR9-1 MIR21 MIR17 KDM4C
22 heart septal defect 31.4 PRODH MIR17 H2AC18 DGCR5 CFAP47
23 skin disease 31.4 SERPINA3 PRODH MIR9-1 MIR21 MIR17 H2AC18
24 immune deficiency disease 31.2 SERPINA3 MIR21 MIR17 H2AC18 CFHR2 CCR6
25 movement disease 31.2 SERPINA3 PRODH MIR9-1 H2AC18 ERCC6
26 motor neuron disease 31.2 SERPINA3 PRODH MIR9-1 MIR24-1 H2AC18 ERCC6
27 retinal vascular disease 31.1 MIR21 MIR17 H2AC18 CRYAA
28 connective tissue disease 31.1 SERPINA3 PRODH MIR9-1 MIR24-1 MIR21 MIR17
29 arteries, anomalies of 31.1 SERPINA3 MIR9-1 MIR24-1 MIR21 MIR17 MIR124-1
30 neuromuscular disease 31.1 SERPINA3 H2AC18 ERCC6 EPRS1 CRYAA CFAP47
31 blood platelet disease 31.1 SERPINA3 PRODH H2AC18 CFHR2 CCR6
32 learning disability 31.0 PRODH NF1 MIR9-1 H2AC18 CFAP47
33 skin carcinoma 31.0 NF1 MSH2 MIR9-1 MIR21 MIR17 H2AC18
34 bacterial infectious disease 31.0 SERPINA3 H2AC18 CFHR2 CCR6
35 lens disease 31.0 SERPINA3 H2AC18 ERCC6 CRYAA CFHR2
36 demyelinating disease 30.9 SERPINA3 PRODH MIR9-1 MIR124-1 H2AC18 CCR6
37 corneal disease 30.9 SERPINA3 H2AC18 ERCC6 CRYAA CCR6
38 hereditary lymphedema 30.8 KDM4C H2AC18 CCR6
39 leukemia, acute myeloid 30.8 SERPINA3 PRODH NF1 MIR9-1 MIR21 MIR17
40 cerebellar disease 30.8 SERPINA3 PRODH MIR9-1 MIR24-1 KDM4C H2AC18
41 robinow syndrome, autosomal recessive 1 30.7 H2AC18 ERCC6 EPRS1
42 leukemia, acute lymphoblastic 30.7 PRODH MSH2 MIR9-1 MIR21 MIR17 KDM4C
43 mental depression 30.7 SERPINA3 PRODH MIR24-1 H2AC18 CCR6
44 speech disorder 30.7 PRODH H2AC18 CFAP47
45 body mass index quantitative trait locus 11 30.7 SERPINA3 PRODH MIR21 MIR17 KDM4C H2AC18
46 aortic valve disease 2 30.6 SERPINA3 MIR21 MIR17
47 inherited metabolic disorder 30.6 SERPINA3 PRODH MIR9-1 MIR21 MIR17 KDM4C
48 disease by infectious agent 30.5 SERPINA3 PRODH MIR9-1 MIR24-1 MIR21 MIR17
49 pervasive developmental disorder 30.5 PRODH MIR9-1 MIR24-1 KDM4C H2AC18 EPRS1
50 cardiovascular system disease 30.5 SERPINA3 MIR9-1 MIR24-1 MIR21 MIR17 MIR124-1

Graphical network of the top 20 diseases related to Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a:



Diseases related to Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a

Symptoms & Phenotypes for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

Human phenotypes related to Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 occasional (7.5%) HP:0000175
2 spondylolisthesis 31 occasional (7.5%) HP:0003302
3 craniosynostosis 31 occasional (7.5%) HP:0001363
4 hip contracture 31 occasional (7.5%) HP:0003273
5 hearing impairment 31 very rare (1%) HP:0000365
6 pectus carinatum 31 very rare (1%) HP:0000768
7 microcephaly 31 very rare (1%) HP:0000252
8 barrel-shaped chest 31 very rare (1%) HP:0001552
9 scoliosis 31 HP:0002650
10 ptosis 31 HP:0000508
11 short neck 31 HP:0000470
12 short stature 31 HP:0004322
13 elbow flexion contracture 31 HP:0002987
14 downslanted palpebral fissures 31 HP:0000494
15 low-set, posteriorly rotated ears 31 HP:0000368
16 hemivertebrae 31 HP:0002937
17 arthrogryposis multiplex congenita 31 HP:0002804
18 vertebral fusion 31 HP:0002948
19 tarsal synostosis 31 HP:0008368
20 knee flexion contracture 31 HP:0006380
21 camptodactyly 31 HP:0012385
22 carpal synostosis 31 HP:0009702
23 multiple pterygia 31 HP:0001040
24 long nasal bridge 31 HP:0033142

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
hemivertebrae
vertebral fusion
mild cervical spinal stenosis (rare)
spondylolisthesis (rare)

Head And Neck Neck:
short neck
webbing of neck

Head And Neck Mouth:
cleft palate

Skin Nails Hair Skin:
multiple pterygia
hypoplastic flexion creases
antecubital webbing
popliteal webbing
webbing of fingers

Skeletal Limbs:
knee contractures
elbow contractures
limited forearm supination
hip contractures (in some patients)

Skeletal Skull:
craniosynostosis (in some patients)

Head And Neck Ears:
low-set posteriorly rotated ears
hearing loss (in some patients)

Skeletal:
bone age delay (in some patients)

Head And Neck Eyes:
ptosis
downslanting palpebral fissures

Growth Height:
short stature

Skeletal Hands:
camptodactyly
carpal fusion
fifth-finger clinodactyly

Head And Neck Nose:
long nasal bridge

Skeletal Feet:
tarsal fusion

Head And Neck Head:
microcephaly (in some patients)

Chest External Features:
short trunk
pectus carinatum (rare)
barrel-shaped chest (rare)

Skeletal Pelvis:
sacral anomaly

Clinical features from OMIM®:

178110 (Updated 05-Mar-2021)

Drugs & Therapeutics for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

Drugs for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 156)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
2
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
3
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
4
Celiprolol Approved, Investigational Phase 4 56980-93-9
5
Pravastatin Approved Phase 4 81093-37-0 54687
6
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
7
Cilnidipine Investigational Phase 4 132203-70-4 5282138
8
Candesartan Experimental Phase 4 139481-59-7 2541
9 Adrenergic alpha-Antagonists Phase 4
10 Angiotensin-Converting Enzyme Inhibitors Phase 4
11 Giapreza Phase 4
12 Angiotensin Receptor Antagonists Phase 4
13 Angiotensin II Type 1 Receptor Blockers Phase 4
14 Angiotensinogen Phase 4
15 calcium channel blockers Phase 4
16 Antihypertensive Agents Phase 4
17 Adrenergic Antagonists Phase 4
18 Adrenergic Agents Phase 4
19 Adrenergic beta-Antagonists Phase 4
20 Neurotransmitter Agents Phase 4
21 Adrenergic beta-1 Receptor Antagonists Phase 4
22 Sympathomimetics Phase 4
23 Vasodilator Agents Phase 4
24 Anti-Arrhythmia Agents Phase 4
25 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
26 Lipid Regulating Agents Phase 4
27 Hypolipidemic Agents Phase 4
28 Antimetabolites Phase 4
29 Anticholesteremic Agents Phase 4
30 Analgesics, Non-Narcotic Phase 4
31 Anti-Inflammatory Agents Phase 4
32 Anti-Inflammatory Agents, Non-Steroidal Phase 4
33 Antirheumatic Agents Phase 4
34 Analgesics Phase 4
35
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
36
Somatostatin Approved, Investigational Phase 2, Phase 3 51110-01-1, 38916-34-6 53481605
37
Lactitol Approved, Investigational Phase 3 585-86-4 157355
38
lanreotide Approved Phase 3 108736-35-2
39
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
40
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
41
Tolvaptan Approved Phase 3 150683-30-0 216237
42
Metformin Approved Phase 3 657-24-9 14219 4091
43
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
44
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030
45
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
46
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
47
tannic acid Approved Phase 2, Phase 3 1401-55-4
48 Contraceptive Agents Phase 3
49 Contraceptive Agents, Male Phase 3
50 Alkylating Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 159)
# Name Status NCT ID Phase Drugs
1 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Unknown status NCT03596957 Phase 4 Tolvaptan
2 Comparison Between ARB and ARB Plus CCB on Incidence of Renal and Cardiovascular Events in Hypertensive ADPKD Patients Unknown status NCT00541853 Phase 4 Candesartan;Candesartan and Cilnidipine;Candesartan plus non-CCB agents
3 A Multicenter, Randomized, Placebo-controlled, Double-blind Study on the Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease (ESRD) in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00414440 Phase 4 Placebo;Everolimus
4 Prevention of Vascular Complications by BetaBlocker Treatment in Vascular Ehlers-Danlos Syndrome Completed NCT00190411 Phase 4 celiprolol;Control
5 Patient Related OuTcomes With Endeavor Versus Cypher Stenting Trial: PROTECT Continued Access Post Marketing Surveillance Trial Completed NCT00846846 Phase 4
6 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
7 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Active, not recruiting NCT03949894 Phase 4 Tolvaptan
8 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Active, not recruiting NCT02494141 Phase 4 Curcumin
9 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Unknown status NCT02055079 Phase 3 Sirolimus;Placebo
10 Randomized Controlled Trial of Triptolide-Containing Formulation for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
11 The DIPAK 1 Study: A Randomised, Controlled Clinical Trial Assessing the Efficacy of Lanreotide to Halt Disease Progression in ADPKD Unknown status NCT01616927 Phase 3 Lanreotide
12 A One-year Open-label, Multicenter Trial to Assess Efficacy, Safety and Tolerability of Canakinumab (ACZ885) and the Efficacy and Safety of Childhood Vaccinations in Patients Aged 4 Years or Younger With Cryopyrin Associated Periodic Syndromes (CAPS) Completed NCT01302860 Phase 3 ACZ885
13 A Three-part,Multicenter Study,With a Randomized,Double-blind,Placebo Controlled,Withdrawal Design in Part II to Assess Efficacy,Safety,and Tolerability of ACZ885(Anti-interleukin-1beta Monoclonal Antibody)in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3 ACZ885;Placebo
14 An Open-label, Efficacy and Safety Study of Canakinumab (Anti-interleukin-1β Monoclonal Antibody) Administered for 6 Months (24 Weeks) in Japanese Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease, Followed by an Extension Phase to Provide Canakinumab to Study Patients Until it is Approved and Marketed in Japan Completed NCT00991146 Phase 3 canakinumab
15 An Open-label Extension Study to Assess Efficacy, Safety and Tolerability of Canakinumab and the Efficacy and Safety of Childhood Vaccinations in Patients With Cryopyrin Associated Periodic Syndromes (CAPS) Completed NCT01576367 Phase 3
16 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
17 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
18 An Open-labelled Multicenter Randomized Study on the Efficacy of Everolimus in Reducing Total Native Kidney Volume in Kidney Transplanted Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
19 Effect of Long-acting Somatostatin on Liver in Autosomal Dominant Polycystic Kidney Disease Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
20 EFFECT OF SOMATOSTTIN ON EARLY DIASTOLIC LEFT VENTRICULAR FUNCTION IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE: A MATCHED-COHORT, SPECKLE-TRACKING ECHOCARDIOGRAPHIC STUDY Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
21 Multi-center, Open-label, Extension Study to Evaluate the Long-term Efficacy and Safety of Oral Tolvaptan Tablet Regimens in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01214421 Phase 3 Tolvaptan
22 Effect of a Long-acting Somatostatin on Disease Progression in Nephropathy Due to Autosomal Dominant Polycystic Kidney Disease: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
23 A PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED CLINICAL TRIAL TO ASSESS THE EFFECTS OF LONG-ACTING SOMATOSTATIN (OCTREOTIDE LAR) THERAPY ON DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND MODERATE TO SEVERE RENAL INSUFFICIENCY Completed NCT01377246 Phase 3 Octreotide-LAR
24 A Multicenter, Open-label Extension Study to Investigate the Long-term Safety and Efficacy of Tolvaptan in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Trial 156-04-251 in Japan] Completed NCT01280721 Phase 3 tolvaptan
25 Lanreotide In Polycystic Kidney Disease Study Completed NCT02127437 Phase 3 Lanreotide;saline
26 A Phase 3, Multi-center, Double-blind, Placebo-controlled, Parallel-arm Trial to Determine Long-term Safety and Efficacy of Oral Tolvaptan Tablets Regimens in Adult Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT00428948 Phase 3 Tolvaptan;Placebo
27 Pilot Study Of Long-Acting Octreotide (Octreotide LAR® Depot) In The Treatment Of Patients With Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3 Octreotide;Placebo
28 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2) [Extension of Study 156-05-002] Completed NCT01022424 Phase 3 OPC-41061
29 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
30 A Phase 3b, Multi-center, Open-label Trial to Evaluate the Long Term Safety of Immediate-release Tolvaptan (OPC-41061, 30 mg to 120 mg/Day, Split Dose) in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT02251275 Phase 3 Tolvaptan
31 Low Osmolar Diet and Adjusted Water Intake for Vasopressin Suppression in ADPKD Completed NCT02225860 Phase 2, Phase 3
32 A Phase 3b, Multi-center, Randomized-withdrawal, Placebo-controlled, Double-blind, Parallel-group Trial to Compare the Efficacy and Safety of Tolvaptan (45 to 120 mg/Day, Split-dose) in Subjects With Chronic Kidney Disease Between Late Stage 2 to Early Stage 4 Due to Autosomal Dominant Polycystic Kidney Disease Completed NCT02160145 Phase 3 Tolvaptan (OPC-41061);Placebo
33 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
34 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
35 Multicenter, Randomized, Double-blind, Placebo-controlled Two Stage Study to Characterize the Efficacy, Safety, Tolerability and Pharmacokinetics of GZ/SAR402671 in Patients at Risk of Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD) Recruiting NCT03523728 Phase 2, Phase 3 Venglustat GZ402671;Placebo
36 A Phase 3 Trial of Bardoxolone Methyl in Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03918447 Phase 3 Bardoxolone methyl oral capsule;Placebo oral capsule
37 Multicenter, Open-label, Extension Study to Characterize the Long-term Efficacy and Safety of Early Versus Delayed Treatment With Venglustat (GZ/SAR402671) in Patients at Risk of Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD) Recruiting NCT04705051 Phase 3 Venglustat GZ402671
38 An Open-Label Study of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Who Previously Experienced Abnormal Liver Chemistry Test Results While Receiving Tolvaptan: The ALERT Study Recruiting NCT04152837 Phase 3 Lixivaptan
39 An Extended Access Program to Assess Long Term Safety of Bardoxolone Methyl in Patients With Chronic Kidney Disease Recruiting NCT03749447 Phase 3 Bardoxolone methyl
40 A Phase 3b, Two-part, Multicenter, One Year Randomized, Double-blind, Placebo-controlled Trial of the Safety, Pharmacokinetics, Tolerability, and Efficacy of Tolvaptan Followed by a Two Year Open-label Extension in Children and Adolescent Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Active, not recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
41 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease. A Phase 3a, Indipendent, Multicentre, Two Parallel Arms, Randomized Controlled Trial Not yet recruiting NCT03764605 Phase 3 Metformin;Tolvaptan
42 A 52-Week, Phase 3, Double-blind, Placebo-controlled, Randomized Study of the Efficacy and Safety of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Not yet recruiting NCT04064346 Phase 3 Lixivaptan;Placebo
43 EFFECTS OF SIROLIMUS ON DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND SEVERE RENAL INSUFFICIENCY Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
44 Rapamycin as Treatment for ADPKD: The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
45 A Randomized, Open-label Study Investigating the Effect of Bilateral Renal Artery Sympathetic Denervation by Catheter-based Radiofrequency Ablation on Blood Pressure and Disease Progression in Autosomal Dominant Polycystic Kidney Disease Unknown status NCT01932450 Phase 2 antihypertensive drugs
46 Phase II Study for the Second-Line Treatment of Hypertension in Patients With Autosomal Dominant Polycystic Kidney Disease; ACEI vs. CCB Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
47 A Multi-center, Parallel-group, Randomized, Double-blind, Placebo-masked, Multiple Dose Trial of Modified-release (MR) and Immediate-release (IR) Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01210560 Phase 2 Tolvaptan MR;Tolvaptan MR;Tolvaptan MR;Tolvaptan IR;Tolvaptan MR
48 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Completed NCT02656017 Phase 2 Metformin
49 A Phase 2, Multi-center, Open-label Study to Determine Long-term Safety, Tolerability and Efficacy of Split-dose Oral Regimens of Tolvaptan Tablets in a Range of 30 to 120 mg/d in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT00413777 Phase 2 Tolvaptan
50 A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind, Placebo-masked, Parallel-group Pilot Trial to Compare the Efficacy, Tolerability, and Safety of Tolvaptan Modified-release and Immediate-release Formulations in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo

Search NIH Clinical Center for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a

Genetic Tests for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

Genetic tests related to Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a:

# Genetic test Affiliating Genes
1 Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a 29 MYH3

Anatomical Context for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

MalaCards organs/tissues related to Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a:

40
Kidney, Liver, Endothelial, Bone

Publications for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

Articles related to Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a:

(show all 11)
# Title Authors PMID Year
1
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. 57 6
29805041 2018
2
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions. 6 57
29314551 2018
3
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. 57 6
28205584 2017
4
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. 6 57
27381093 2016
5
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. 6 57
25957469 2015
6
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. 57 6
18470895 2008
7
Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form? 57
16964621 2006
8
A revised and extended classification of the distal arthrogryposes. 57
8923935 1996
9
Congenital synspondylism. 57
1536163 1992
10
An autosomal dominant multiple pterygium syndrome. 57
2831369 1988
11
Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A). 61
32767732 2020

Variations for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

ClinVar genetic disease variations for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH3 NM_002470.4(MYH3):c.724_726TCC[1] (p.Ser243del) Microsatellite Pathogenic 203472 rs1555527166 17:10551880-10551882 17:10648563-10648565
2 MYH3 NM_002470.4(MYH3):c.4647+1G>A SNV Pathogenic 587701 rs1567552713 17:10536907-10536907 17:10633590-10633590
3 MYH3 NM_002470.4(MYH3):c.1581+1G>A SNV Pathogenic 587702 rs1350968647 17:10546142-10546142 17:10642825-10642825
4 MYH3 NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter) SNV Pathogenic 587703 rs1567564042 17:10558241-10558241 17:10654924-10654924
5 MYH3 NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs) Deletion Pathogenic 503890 rs771300756 17:10544659-10544663 17:10641342-10641346
6 MYH3 NM_002470.4(MYH3):c.1411-391_1411-219del Deletion Pathogenic 587704 rs1567558314 17:10546532-10546704 17:10643215-10643387
7 MYH3 NM_002470.4(MYH3):c.3224A>C (p.Gln1075Pro) SNV Pathogenic 203471 rs796051884 17:10542385-10542385 17:10639068-10639068
8 MYH3 NM_002470.4(MYH3):c.3214_3216dup (p.Asn1072dup) Duplication Pathogenic 235829 rs878853126 17:10542392-10542393 17:10639075-10639076
9 MYH3 NM_002470.4(MYH3):c.-9+1G>A SNV Pathogenic 587706 rs557849165 17:10559406-10559406 17:10656089-10656089
10 MYH3 NM_002470.4(MYH3):c.1581+1G>A SNV Pathogenic 587702 rs1350968647 17:10546142-10546142 17:10642825-10642825
11 MYH3 NM_002470.4(MYH3):c.-9+1G>A SNV Pathogenic 587706 rs557849165 17:10559406-10559406 17:10656089-10656089
12 MYH3 NM_002470.4(MYH3):c.998C>G (p.Thr333Arg) SNV Likely pathogenic 634839 rs1567559562 17:10549250-10549250 17:10645933-10645933
13 MYH3 NM_002470.4(MYH3):c.859T>G (p.Phe287Val) SNV Likely pathogenic 634841 rs1567560080 17:10550538-10550538 17:10647221-10647221
14 MYH3 NM_002470.4(MYH3):c.700G>A (p.Ala234Thr) SNV Likely pathogenic 14145 rs121913623 17:10551909-10551909 17:10648592-10648592
15 MYH3 NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln) SNV Uncertain significance 587607 rs1567553702 17:10538727-10538727 17:10635410-10635410
16 MYH3 NM_002470.3(MYH3):c.725C>T (p.Ser242Phe) SNV Uncertain significance 587705 rs1567560718 17:10551884-10551884 17:10648567-10648567
17 MYH3 NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro) SNV Uncertain significance 634840 rs1567553806 17:10538825-10538825 17:10635508-10635508

UniProtKB/Swiss-Prot genetic disease variations for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a:

73
# Symbol AA change Variation ID SNP ID
1 MYH3 p.Gln1075Pro VAR_074670 rs796051884
2 MYH3 p.Phe287Val VAR_082276 rs156756008
3 MYH3 p.Thr333Arg VAR_082277 rs156755956

Expression for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

Search GEO for disease gene expression data for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a.

Pathways for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

Pathways related to Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.51 MIR9-1 MIR21 MIR17 MIR124-1 APC

GO Terms for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

Biological processes related to Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 9.77 MIR9-1 MIR24-1 MIR21 MIR17 MIR124-1
2 positive regulation of metalloendopeptidase activity GO:1904685 9.32 MIR21 MIR17
3 response to UV-B GO:0010224 9.26 MSH2 ERCC6
4 positive regulation of vascular smooth muscle cell differentiation GO:1905065 9.16 MIR21 MIR124-1
5 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 8.96 MIR21 MIR17
6 miRNA mediated inhibition of translation GO:0035278 8.92 MIR9-1 MIR21 MIR17 MIR124-1

Molecular functions related to Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.35 MIR9-1 MIR24-1 MIR21 MIR17 MIR124-1
2 mRNA 3'-UTR binding GO:0003730 9.02 MIR9-1 MIR24-1 MIR21 MIR17 MIR124-1

Sources for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

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
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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