CPSKF1A
MCID: CNT110
MIFTS: 60

Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a (CPSKF1A)

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

Aliases & Classifications for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome...

MalaCards integrated aliases for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a:

Name: Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a 56 73 6
Distal Arthrogryposis Type 8 52 58 29
Multiple Pterygium Syndrome, Autosomal Dominant 56 73
Autosomal Dominant Multiple Pterygium Syndrome 52 58
Arthrogryposis, Distal, Type 8 73 39
Autosomal Dominant Disease 12 15
Cpskf1a 56 73
Arthrogryposis, Distal, Type 8, Formerly; Da8, Formerly 56
Pterygium Syndrome, Multiple; Autosomal Dominant 56
Pterygium Syndrome, Multiple, Autosomal Dominant 73
Arthrogryposis, Distal, Type 8, Formerly 56
Pterygium Syndrome, Multiple 56
Autosomal Dominant Disorder 15
Arthrogryposis, Distal, 8 73
Autosomal Dominant 56
Da8, Formerly 56
Da8 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
inter- and intrafamilial phenotypic variability


HPO:

31
contractures, pterygia, and variable skeletal fusions syndrome 1a:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome...

UniProtKB/Swiss-Prot : 73 Arthrogryposis, distal, 8: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease.
Contractures, pterygia, and variable skeletal fusions 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.

MalaCards based summary : Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a, also known as distal arthrogryposis type 8, is related to autosomal dominant cerebellar ataxia and mental retardation, autosomal dominant 20. An important gene associated with Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a is MYH3 (Myosin Heavy Chain 3), and among its related pathways/superpathways are Mismatch repair and Platinum drug resistance. The drugs Candesartan cilexetil and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and heart, and related phenotypes are craniosynostosis and cleft palate

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.

OMIM : 56 Contractures, pterygia, and variable skeletal fusions syndrome-1A (CPSKF1) 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 CPSKF (CPSKF1B; 618469) is caused by compound heterozygous mutation in the MYH3 gene. (178110)

Related Diseases for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome...

Diseases in the Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a family:

Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1b

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

(show top 50) (show all 4267)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 35.0 SERPINA3 MIR9-1 MIR24-1 H2AC18 ERCC6 CRYAA
2 mental retardation, autosomal dominant 20 34.9 MSH6 MSH2 MLH1
3 autosomal dominant non-syndromic intellectual disability 8 34.8 MSH6 MSH2 MLH1
4 spinocerebellar ataxia 7 34.3 MIR9-1 H2AC18 ATXN3
5 digeorge syndrome 34.0 PRODH MIR9-1 MIR24-1 MIR17 H2AC18
6 mismatch repair cancer syndrome 33.3 PMS2 MSH6 MSH2 MLH1
7 legius syndrome 33.3 NF1 MSH6 MSH2
8 multiple endocrine neoplasia, type i 33.3 RET NF1 MIR24-1 MEN1 H2AC18
9 amyotrophic lateral sclerosis 1 33.3 SERPINA3 PRODH MIR9-1 MIR24-1 H2AC18 ERCC6
10 neurofibromatosis, type ii 33.2 SERPINA3 NF2 NF1
11 muir-torre syndrome 33.2 PMS2 MSH6 MSH2 MLH1
12 multiple endocrine neoplasia, type iib 33.2 RET NF1 MEN1
13 cowden syndrome 33.2 RET PMS2 NF2 NF1 MSH6 MSH2
14 multiple endocrine neoplasia, type iia 33.1 RET NF1 MEN1
15 colorectal cancer, hereditary nonpolyposis, type 5 33.1 PMS2 MSH6 MSH2 MLH1
16 lynch syndrome i 33.1 PMS2 MSH6 MSH2 MLH1
17 lynch syndrome 33.1 PMS2 MSH6 MSH2 MLH1 MIR17 KDM4C
18 lipomatosis, multiple 33.0 SERPINA3 NF1 MEN1
19 parkinson disease, late-onset 33.0 SERPINA3 PRODH MIR9-1 MIR24-1 H2AC18 ATXN3
20 neurofibromatosis, type iv, of riccardi 33.0 RET NF2 NF1 MEN1
21 hyperparathyroidism 2 with jaw tumors 32.9 RET MEN1
22 li-fraumeni syndrome 32.9 PMS2 NF1 MSH6 MSH2 MLH1 MEN1
23 colorectal cancer, hereditary nonpolyposis, type 6 32.9 PMS2 MSH6 MSH2 MLH1
24 dysplastic nevus syndrome 32.9 MSH6 MSH2 MLH1
25 von hippel-lindau syndrome 32.8 RET NF1 MEN1
26 fanconi anemia, complementation group a 32.8 PMS2 MSH6 MSH2 MLH1 MEN1 H2AC18
27 renal cell carcinoma, papillary, 1 32.8 RET NF2 MSH2 KDM4C
28 chromosome 16p13.3 deletion syndrome, proximal 32.8 MIR9-1 KDM4C H2AC18
29 attenuated familial adenomatous polyposis 32.8 MSH6 MSH2
30 juvenile polyposis syndrome 32.7 PMS2 MSH6 MSH2 MLH1
31 fatal familial insomnia 32.7 SERPINA3 PRODH ERCC6
32 colorectal cancer, hereditary nonpolyposis, type 4 32.7 PMS2 MLH1
33 hutchinson-gilford progeria syndrome 32.7 MIR9-1 H2AC18 ERCC6
34 carney complex variant 32.5 RET NF1 MEN1
35 islet cell tumor 32.5 SERPINA3 RET MEN1
36 cowden syndrome 1 32.4 RET NF1 MSH2
37 macular degeneration, age-related, 1 31.8 SERPINA3 H2AC18 ERCC6 CRYAA CFHR2
38 peripheral nervous system disease 31.8 SERPINA3 PRODH H2AC18 ERCC6 CRYAA ATXN3
39 renal cell carcinoma, nonpapillary 31.6 RET PRODH MIR9-1 MIR17 KDM4C H2AC18
40 eye disease 31.6 SERPINA3 PRODH MIR9-1 MIR17 KDM4C H2AC18
41 adenoma 31.5 RET MSH6 MSH2 MLH1 MEN1
42 retinitis pigmentosa 11 31.5 PRODH KDM4C H2AC18
43 skin disease 31.5 SERPINA3 PRODH MIR17 H2AC18 ERCC6
44 arteries, anomalies of 31.3 SERPINA3 MIR9-1 MIR24-1 MIR17 H2AC18 CFHR2
45 connective tissue disease 31.3 SERPINA3 PRODH MIR9-1 MIR24-1 MIR17 KDM4C
46 lens disease 31.2 SERPINA3 NF2 H2AC18 ERCC6 CRYAA CFHR2
47 autosomal recessive disease 31.2 SERPINA3 PRODH MYH3 MIR9-1 MIR17 H2AC18
48 melanoma, cutaneous malignant 1 31.1 PMS2 NF1 MSH6 MSH2 MLH1
49 demyelinating disease 31.0 SERPINA3 PRODH MIR9-1 H2AC18
50 neuromuscular disease 31.0 SERPINA3 H2AC18 ERCC6 CRYAA

Graphical network of the top 20 diseases related to Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a:



Diseases related to Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a

Symptoms & Phenotypes for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome...

Human phenotypes related to Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 craniosynostosis 31 occasional (7.5%) HP:0001363
2 cleft palate 31 occasional (7.5%) HP:0000175
3 spondylolisthesis 31 occasional (7.5%) HP:0003302
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 short neck 31 HP:0000470
10 scoliosis 31 HP:0002650
11 ptosis 31 HP:0000508
12 short stature 31 HP:0004322
13 downslanted palpebral fissures 31 HP:0000494
14 arthrogryposis multiplex congenita 31 HP:0002804
15 elbow flexion contracture 31 HP:0002987
16 low-set, posteriorly rotated ears 31 HP:0000368
17 hemivertebrae 31 HP:0002937
18 vertebral fusion 31 HP:0002948
19 tarsal synostosis 31 HP:0008368
20 camptodactyly 31 HP:0012385
21 knee flexion contracture 31 HP:0006380
22 carpal synostosis 31 HP:0009702
23 multiple pterygia 31 HP:0001040

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck
webbing of neck

Head And Neck Eyes:
ptosis
downslanting palpebral fissures

Head And Neck Mouth:
cleft palate

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

Skeletal Feet:
tarsal fusion

Head And Neck Head:
microcephaly (in some patients)

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

Skeletal:
bone age delay (in some patients)

Skeletal Spine:
scoliosis
hemivertebrae
vertebral fusion
mild cervical spinal stenosis (rare)
spondylolisthesis (rare)

Growth Height:
short stature

Skeletal Hands:
camptodactyly
carpal fusion
fifth-finger clinodactyly

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

Skeletal Skull:
craniosynostosis (in some patients)

Head And Neck Nose:
long nasal bridge

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

Skeletal Pelvis:
sacral anomaly

Clinical features from OMIM:

178110

GenomeRNAi Phenotypes related to Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a according to GeneCards Suite gene sharing:

26 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.27 ERCC6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.27 ERCC6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.27 ERCC6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.27 CRYAA MLH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.27 PRODH
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.27 ERCC6
7 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.27 ERCC6 PRODH
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.27 ERCC6
9 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.27 MLH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.27 ERCC6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.27 ERCC6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.27 ERCC6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.27 CRYAA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.27 CRYAA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.27 ERCC6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.27 PRODH
17 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.27 PRODH
18 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.27 ERCC6 PRODH
19 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.27 CRYAA ERCC6 MLH1 PRODH
20 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.27 ERCC6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.27 CRYAA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.27 ERCC6 PRODH
23 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.27 ERCC6
24 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.27 PRODH
25 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10.27 ERCC6
26 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.27 PRODH
27 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.27 PRODH
28 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.27 MLH1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.27 ERCC6
30 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.27 MLH1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.27 CRYAA
32 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.27 MLH1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.27 PRODH
34 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.27 PRODH
35 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 ERCC6 MEN1 MLH1 MSH2 MSH6 PMS2

MGI Mouse Phenotypes related to Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.32 ERCC6 KDM4C MEN1 MLH1 MSH2 MSH6

Drugs & Therapeutics for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome...

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

(show top 50) (show all 345)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
2
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
6
Metformin Approved Phase 4 657-24-9 14219 4091
7
Celiprolol Approved, Investigational Phase 4 56980-93-9
8
Sodium citrate Approved, Investigational Phase 4 68-04-2
9
Phenoxybenzamine Approved Phase 4 59-96-1 4768
10
Doxazosin Approved Phase 4 74191-85-8 3157
11
Pravastatin Approved Phase 4 81093-37-0 54687
12
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
13
Bevacizumab Approved, Investigational Phase 4 216974-75-3
14
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
15
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
16
Cilnidipine Investigational Phase 4 132203-70-4 5282138
17
Candesartan Experimental Phase 4 139481-59-7 2541
18
Enclomiphene Investigational Phase 4 15690-57-0
19 Anti-Infective Agents Phase 4
20 Antibiotics, Antitubercular Phase 4
21 Anti-Bacterial Agents Phase 4
22 Antifungal Agents Phase 4
23 Immunosuppressive Agents Phase 4
24 Central Nervous System Stimulants Phase 4
25 Dopamine Uptake Inhibitors Phase 4
26 Neurotransmitter Agents Phase 4
27 Dopamine Agents Phase 4
28 Adrenergic Antagonists Phase 4
29 Vasodilator Agents Phase 4
30 Adrenergic Agents Phase 4
31 Antihypertensive Agents Phase 4
32 Hormone Antagonists Phase 4
33 Sympathomimetics Phase 4
34 Hypoglycemic Agents Phase 4
35 Adrenergic alpha-Antagonists Phase 4
36 Estrogens Phase 4
37 Estrogen Receptor Antagonists Phase 4
38 Estrogen Antagonists Phase 4
39 Citrate Phase 4
40 Fertility Agents Phase 4
41 Selective Estrogen Receptor Modulators Phase 4
42 Anticoagulants Phase 4
43 Chelating Agents Phase 4
44 Clomiphene Phase 4
45 Zuclomiphene Phase 4
46 Estrogen Receptor Modulators Phase 4
47 Hypolipidemic Agents Phase 4
48 Anticholesteremic Agents Phase 4
49 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
50 Lipid Regulating Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 398)
# Name Status NCT ID Phase Drugs
1 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
2 Comportemental and Neuropsychologic Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate. A Double-blind Randomised Study Methylphenidate Versus Placebo Completed NCT00169611 Phase 4 methylphenidate
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 Therapeutic Effect of Vitamin D3 Supplementation to Clomiphene Citrate Resistant Polycystic Ovary Syndrome Women Completed NCT04010942 Phase 4 Vit D;Metformin;Clomiphene
7 Pheochromocytoma Randomised Study Comparing Adrenoreceptor Inhibiting Agents for Preoperative Treatment Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
8 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Recruiting NCT03949894 Phase 4 Tolvaptan
9 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 Phase 4 Tolvaptan
10 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Recruiting NCT02494141 Phase 4 Curcumin
11 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
12 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
13 Randomized Controlled Trial of Triptolide-Containing Formulation for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
14 An Open-label, Prospective Clinical Trial to Evaluate the Effectiveness and Safety of Sirolimus to Reduce Cyst Growth in ADPKD Patients With Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3 Sirolimus
15 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
16 First Clinical Study of Erbium-YAG Laser Vaporisation of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
17 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Unknown status NCT02878694 Phase 2, Phase 3
18 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
19 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
20 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
21 Effect of Long-acting Somatostatin on Liver in Autosomal Dominant Polycystic Kidney Disease Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
22 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
23 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
24 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
25 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
26 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
27 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
28 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
29 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
30 Lanreotide In Polycystic Kidney Disease Study Completed NCT02127437 Phase 3 Lanreotide;saline
31 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
32 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
33 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
34 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
35 Low Osmolar Diet and Adjusted Water Intake for Vasopressin Suppression in ADPKD Completed NCT02225860 Phase 2, Phase 3
36 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
37 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
38 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
39 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
40 An Open-label, Long-term Safety and Efficacy Study of ACZ885 (Anti-interleukin-1β Monoclonal Antibody) Administered for at Least 6 Months in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT00685373 Phase 3 Canakinumab (ACZ885)
41 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
42 Pharmacokinetics Berinert P Study of Subcutaneous Versus Intravenous Administration in Subjects With Moderate Hereditary Angioedema - The Passion Study Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
43 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
44 Neuroleptic and Huntington Disease. Comparison of : Olanzapine, la Tetrabenazine and Tiapride. A Multicentric, Randomised, Controlled Study. Completed NCT00632645 Phase 3 Olanzapine;Xenazine;Tiapridal
45 A Double-blind, Randomized, Placebo-controlled Phase III Trial to Investigate the Efficacy and Safety of NPC-12G Gel (Topical Formulation of Sirolimus) to Angiofibroma and Other Skin Lesions in Patients With Tuberous Sclerosis Complex Completed NCT02635789 Phase 3 NPC-12G gel;Placebo gel
46 A Long-term, Single-arm, Open-label Trial of NPC-12G (Topical Formulation of Sirolimus) to Angiofibroma and Other Skin Lesions in Patients With Tuberous Sclerosis Complex Completed NCT02634931 Phase 3 NPC-12G gel
47 Polycystic Kidney Disease-Treatment Network Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
48 Polycystic Kidney Disease-Treatment Network Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
49 Efficacy of Riluzole in Hereditary Cerebellar Ataxia: a Randomized Double-blind Placebo-controlled Trial. Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
50 Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo

Search NIH Clinical Center for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a

Genetic Tests for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome...

Genetic tests related to Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a:

# Genetic test Affiliating Genes
1 Distal Arthrogryposis Type 8 29 MYH3

Anatomical Context for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome...

MalaCards organs/tissues related to Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a:

40
Kidney, Bone, Heart, Liver, Brain, Skin, Thyroid

Publications for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome...

Articles related to Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a:

# Title Authors PMID Year
1
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. 61 56 6
25957469 2015
2
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. 56 6
29805041 2018
3
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions. 56 6
29314551 2018
4
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. 56 6
28205584 2017
5
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. 56 6
27381093 2016
6
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. 56 6
18470895 2008
7
An autosomal dominant multiple pterygium syndrome. 61 56
2831369 1988
8
Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form? 56
16964621 2006
9
A revised and extended classification of the distal arthrogryposes. 56
8923935 1996
10
Congenital synspondylism. 56
1536163 1992

Variations for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome...

ClinVar genetic disease variations for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a:

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH3 NM_002470.4(MYH3):c.3224A>C (p.Gln1075Pro)SNV Pathogenic 203471 rs796051884 17:10542385-10542385 17:10639068-10639068
2 MYH3 NM_002470.4(MYH3):c.3214_3216dup (p.Asn1072dup)duplication Pathogenic 235829 rs878853126 17:10542392-10542393 17:10639075-10639076
3 MYH3 NM_002470.4(MYH3):c.4647+1G>ASNV Pathogenic 587701 rs1567552713 17:10536907-10536907 17:10633590-10633590
4 MYH3 NM_002470.4(MYH3):c.1581+1G>ASNV Pathogenic 587702 rs1350968647 17:10546142-10546142 17:10642825-10642825
5 MYH3 NM_002470.4(MYH3):c.1411-391_1411-219deldeletion Pathogenic 587704 rs1567558314 17:10546532-10546704 17:10643215-10643387
6 MYH3 NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter)SNV Pathogenic 587703 rs1567564042 17:10558241-10558241 17:10654924-10654924
7 MYH3 NM_002470.4(MYH3):c.-9+1G>ASNV Pathogenic 587706 rs557849165 17:10559406-10559406 17:10656089-10656089
8 MYH3 NM_002470.4(MYH3):c.998C>G (p.Thr333Arg)SNV Likely pathogenic 634839 rs1567559562 17:10549250-10549250 17:10645933-10645933
9 MYH3 NM_002470.4(MYH3):c.859T>G (p.Phe287Val)SNV Likely pathogenic 634841 rs1567560080 17:10550538-10550538 17:10647221-10647221
10 MYH3 NM_002470.4(MYH3):c.724_726TCC[1] (p.Ser243del)short repeat Likely pathogenic 203472 rs1555527166 17:10551880-10551882 17:10648563-10648565
11 MYH3 NM_002470.4(MYH3):c.700G>A (p.Ala234Thr)SNV Likely pathogenic 14145 rs121913623 17:10551909-10551909 17:10648592-10648592
12 MYH3 NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs)deletion Conflicting interpretations of pathogenicity 503890 rs771300756 17:10544659-10544663 17:10641342-10641346
13 MYH3 NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln)SNV Uncertain significance 587607 rs1567553702 17:10538727-10538727 17:10635410-10635410
14 MYH3 NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro)SNV Uncertain significance 634840 rs1567553806 17:10538825-10538825 17:10635508-10635508
15 MYH3 NM_002470.3(MYH3):c.725C>T (p.Ser242Phe)SNV no interpretation for the single variant 590257 rs1567560718 17:10551884-10551884 17:10648567-10648567
16 MYH3 NM_002470.4(MYH3):c.721A>G (p.Asn241Asp)SNV no interpretation for the single variant 590258 rs1567560725 17:10551888-10551888 17:10648571-10648571

UniProtKB/Swiss-Prot genetic disease variations for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a:

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

Expression for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome...

Search GEO for disease gene expression data for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a.

Pathways for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome...

Pathways related to Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.23 PMS2 MSH6 MSH2 MLH1
2 11.2 MSH6 MSH2 MLH1
3 10.48 PMS2 MSH6 MSH2 MLH1 ERCC6

GO Terms for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome...

Cellular components related to Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.1 SERPINA3 PMS2 NF2 NF1 MSH6 MSH2
2 MutLalpha complex GO:0032389 9.16 PMS2 MLH1
3 MutSalpha complex GO:0032301 8.96 MSH6 MSH2
4 mismatch repair complex GO:0032300 8.92 PMS2 MSH6 MSH2 MLH1

Biological processes related to Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.91 PMS2 MSH6 MSH2 MLH1 MEN1 ERCC6
2 DNA repair GO:0006281 9.85 PMS2 MSH6 MSH2 MLH1 MEN1 ERCC6
3 response to UV GO:0009411 9.67 MSH6 MEN1 ERCC6
4 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.56 RET NF1
5 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.56 MSH6 MSH2 MLH1 ERCC6
6 response to UV-B GO:0010224 9.55 MSH2 ERCC6
7 positive regulation of isotype switching to IgG isotypes GO:0048304 9.54 MSH2 MLH1
8 positive regulation of helicase activity GO:0051096 9.52 MSH6 MSH2
9 pyrimidine dimer repair GO:0006290 9.51 MSH6 ERCC6
10 isotype switching GO:0045190 9.5 MSH6 MSH2 MLH1
11 positive regulation of isotype switching to IgA isotypes GO:0048298 9.48 MSH2 MLH1
12 maintenance of DNA repeat elements GO:0043570 9.46 MSH6 MSH2
13 mismatch repair GO:0006298 9.46 PMS2 MSH6 MSH2 MLH1
14 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MSH2 MLH1
15 somatic recombination of immunoglobulin gene segments GO:0016447 9.13 MSH6 MSH2 MLH1
16 somatic hypermutation of immunoglobulin genes GO:0016446 8.92 PMS2 MSH6 MSH2 MLH1

Molecular functions related to Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.8 PMS2 MSH6 MSH2 MLH1
2 chromatin binding GO:0003682 9.73 MSH6 MSH2 MLH1 MEN1 KDM4C ERCC6
3 DNA-dependent ATPase activity GO:0008094 9.58 MSH6 MSH2 ERCC6
4 MutSalpha complex binding GO:0032407 9.48 PMS2 MLH1
5 MutLalpha complex binding GO:0032405 9.46 MSH6 MSH2
6 oxidized purine DNA binding GO:0032357 9.43 MSH6 MSH2
7 single guanine insertion binding GO:0032142 9.37 MSH6 MSH2
8 four-way junction DNA binding GO:0000400 9.33 MSH6 MSH2 MEN1
9 single thymine insertion binding GO:0032143 9.32 MSH6 MSH2
10 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
11 mismatched DNA binding GO:0030983 8.92 PMS2 MSH6 MSH2 MLH1

Sources for Contractures, Pterygia, and Variable Skeletal Fusions Syndrome...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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68 SNOMED-CT via HPO
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