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CPSFS1A
MCID: CNT116
MIFTS: 54

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

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

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

Name: Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 56
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a 56 73 29 6
Multiple Pterygium Syndrome, Autosomal Dominant 56 73
Autosomal Dominant Multiple Pterygium Syndrome 52 58
Arthrogryposis, Distal, Type 8 73 39
Distal Arthrogryposis Type 8 52 58
Autosomal Dominant Disease 12 15
Cpskf1a 56 73
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a; Cpskf1a 56
Contractures, Pterygia, and Spondylocarpostarsal Fusion Syndrome 1a 56
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
Cpsfs1a 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 spondylocarpotarsal fusion syndrome 1a:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Developmental anomalies during embryogenesis


Sources

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

About this section
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 Spondylocarpotarsal Fusion Syndrome 1a, also known as contractures, pterygia, and variable skeletal fusions syndrome 1a, is related to autosomal dominant cerebellar ataxia and multiple pterygium syndrome, escobar variant. An important gene associated with Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a is MYH3 (Myosin Heavy Chain 3). The drugs Methylphenidate and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and eye, 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.

OMIM : 56 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)

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

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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 4289)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 35.1 SERPINA3 MIR9-1 MIR24-1 H2AC18 ERCC6 CRYAA
2 multiple pterygium syndrome, escobar variant 34.4 MYH3 ERCC6 CRYAA
3 epilepsy, familial temporal lobe, 1 34.1 H2AC18 ERCC6 EPRS1
4 digeorge syndrome 34.0 PRODH MIR9-1 MIR24-1 MIR17 H2AC18
5 retinitis pigmentosa 33.6 SERPINA3 PRODH KDM4C H2AC18 ERCC6 EPRS1
6 robinow syndrome 33.5 H2AC18 ERCC6 EPRS1
7 amyotrophic lateral sclerosis 1 33.4 SERPINA3 PRODH MIR9-1 MIR24-1 H2AC18 ERCC6
8 sorsby fundus dystrophy 33.2 DCAF8 CRYAA CFHR2
9 doyne honeycomb retinal dystrophy 33.2 ERCC6 CRYAA CFHR2
10 lynch syndrome 33.1 NF1 MIR17 KDM4C H2AC18 ERCC6 APC
11 parkinson disease, late-onset 33.0 SERPINA3 PRODH MIR9-1 MIR24-1 MIR21 H2AC18
12 hypotrichosis 1 32.9 KDM4C H2AC18 CCR6
13 chromosome 16p13.3 deletion syndrome, proximal 32.8 MIR9-1 KDM4C H2AC18
14 fatal familial insomnia 32.6 SERPINA3 PRODH ERCC6
15 amyloidosis, finnish type 32.3 SERPINA3 KDM4C DCAF8
16 cerebellar ataxia type 47 32.1 SERPINA3 ERCC6
17 macular degeneration, age-related, 1 31.9 SERPINA3 H2AC18 ERCC6 CRYAA CFHR2 CCR6
18 peripheral nervous system disease 31.9 SERPINA3 PRODH MIR21 H2AC18 ERCC6 EPRS1
19 acute cystitis 31.9 SERPINA3 H2AC18 EPRS1 CCR6
20 bone resorption disease 31.8 SERPINA3 H2AC18 ERCC6 CCR6
21 renal cell carcinoma, nonpapillary 31.8 PRODH MIR9-1 MIR21 MIR17 KDM4C H2AC18
22 optic nerve disease 31.8 SERPINA3 ERCC6 CRYAA CCR6 BLOC1S1
23 eye disease 31.7 SERPINA3 PRODH MIR9-1 MIR21 MIR17 KDM4C
24 skin disease 31.6 SERPINA3 PRODH MIR21 MIR17 H2AC18 ERCC6
25 heart septal defect 31.6 PRODH MIR17 H2AC18 CFAP47
26 connective tissue disease 31.4 SERPINA3 PRODH MIR9-1 MIR24-1 MIR21 MIR17
27 arteries, anomalies of 31.4 SERPINA3 MIR9-1 MIR24-1 MIR21 MIR17 H2AC18
28 retinitis pigmentosa 11 31.3 PRODH KDM4C H2AC18
29 retinitis pigmentosa 18 31.3 H2AC18 DCAF8 BLOC1S1
30 neuromuscular disease 31.3 SERPINA3 H2AC18 ERCC6 EPRS1 DCAF8 CRYAA
31 autosomal recessive disease 31.3 SERPINA3 PRODH MYH3 MIR9-1 KDM4C H2AC18
32 blood platelet disease 31.3 PRODH H2AC18 CFHR2 CCR6
33 learning disability 31.2 PRODH NF1 H2AC18 CFAP47 BLOC1S1
34 lens disease 31.2 SERPINA3 H2AC18 ERCC6 CRYAA CFHR2
35 bacterial infectious disease 31.2 SERPINA3 PRODH H2AC18 CCR6
36 diabetes mellitus, noninsulin-dependent 31.1 SERPINA3 PRODH MIR21 MIR17 KDM4C H2AC18
37 corneal disease 31.1 SERPINA3 H2AC18 ERCC6 CRYAA CCR6
38 demyelinating disease 31.1 SERPINA3 PRODH MIR9-1 H2AC18 CCR6
39 retinal vascular disease 31.1 MIR21 H2AC18 CRYAA
40 leukemia, acute myeloid 31.0 SERPINA3 PRODH NF1 MIR9-1 MIR21 MIR17
41 skin carcinoma 31.0 MIR21 H2AC18 ERCC6 CCR6
42 hereditary lymphedema 30.9 KDM4C H2AC18 CCR6
43 body mass index quantitative trait locus 11 30.9 SERPINA3 PRODH MIR21 MIR17 KDM4C H2AC18
44 leukemia, acute lymphoblastic 30.9 MIR9-1 MIR21 MIR17 KDM4C H2AC18 CCR6
45 cerebellar disease 30.9 SERPINA3 PRODH H2AC18 ERCC6
46 mental depression 30.9 SERPINA3 PRODH MIR24-1 H2AC18
47 movement disease 30.9 SERPINA3 PRODH MIR9-1
48 speech disorder 30.9 PRODH H2AC18 EPRS1
49 inherited metabolic disorder 30.8 SERPINA3 PRODH MIR9-1 MIR21 MIR17 KDM4C
50 pervasive developmental disorder 30.8 SERPINA3 PRODH MIR9-1 MIR24-1 KDM4C H2AC18

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

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

31 (show all 23)
# 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 short neck 31 HP:0000470
10 scoliosis 31 HP:0002650
11 short stature 31 HP:0004322
12 ptosis 31 HP:0000508
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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck
webbing of neck

Growth Height:
short stature

Head And Neck Eyes:
ptosis
downslanting palpebral fissures

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)

Head And Neck Mouth:
cleft palate

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
Sources

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

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

(show top 50) (show all 332)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Metformin Approved Phase 4 657-24-9 14219 4091
4
Sodium citrate Approved, Investigational Phase 4 68-04-2
5
Celiprolol Approved, Investigational Phase 4 56980-93-9
6
Doxazosin Approved Phase 4 74191-85-8 3157
7
Phenoxybenzamine Approved Phase 4 59-96-1 4768
8
Pravastatin Approved Phase 4 81093-37-0 54687
9
Bevacizumab Approved, Investigational Phase 4 216974-75-3
10
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
11
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
12
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
13
Cilnidipine Investigational Phase 4 132203-70-4 5282138
14
Enclomiphene Investigational Phase 4 15690-57-0
15 Dopamine Agents Phase 4
16 Central Nervous System Stimulants Phase 4
17 Neurotransmitter Agents Phase 4
18 Adrenergic Agents Phase 4
19 Adrenergic Antagonists Phase 4
20 Hormone Antagonists Phase 4
21 Antihypertensive Agents Phase 4
22 Hypoglycemic Agents Phase 4
23 Adrenergic alpha-Antagonists Phase 4
24 Citrate Phase 4
25 Vasodilator Agents Phase 4
26 Sympathomimetics Phase 4
27 Estrogen Receptor Antagonists Phase 4
28 Estrogen Antagonists Phase 4
29 Estrogens Phase 4
30 Estrogen Receptor Modulators Phase 4
31 Clomiphene Phase 4
32 Zuclomiphene Phase 4
33 Adrenergic alpha-1 Receptor Antagonists Phase 4
34 Hypolipidemic Agents Phase 4
35 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
36 Lipid Regulating Agents Phase 4
37 Anticholesteremic Agents Phase 4
38 Antimetabolites Phase 4
39 Antineoplastic Agents, Immunological Phase 4
40 Angiogenesis Inhibitors Phase 4
41 Analgesics, Non-Narcotic Phase 4
42 Analgesics Phase 4
43 Antirheumatic Agents Phase 4
44 Anti-Inflammatory Agents, Non-Steroidal Phase 4
45
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
46
lanreotide Approved Phase 2, Phase 3 108736-35-2
47
Spironolactone Approved Phase 3 52-01-7, 1952-01-7 5833
48
Octreotide Approved, Investigational Phase 2, Phase 3 83150-76-9 383414 6400441
49
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
50
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639

Interventional clinical trials:

(show top 50) (show all 418)
# 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 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
11 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
12 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Active, not recruiting NCT02494141 Phase 4 Curcumin
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 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 Long-acting Somatostatin on Liver in Autosomal Dominant Polycystic Kidney Disease Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
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 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
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 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
28 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
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 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
38 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
39 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)
40 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
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 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
43 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
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 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
46 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
47 HALT Progression of Polycystic Kidney Disease Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
48 Efficacy of Riluzole in Hereditary Cerebellar Ataxia: a Randomized Double-blind Placebo-controlled Trial. Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
49 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
50 A Randomized, Double-Blind, Placebo-Controlled Study to Assess Efficacy and Safety of ISIS 301012 as Add-on Therapy in Heterozygous Familial Hypercholesterolemia Subjects With Coronary Artery Disease Completed NCT00706849 Phase 3 mipomersen sodium;placebo

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

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

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

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

40
Kidney, Liver, Eye, Endothelial, Testes, Bone, Colon
Sources

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

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

# Title Authors PMID Year
1
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. 6 56 61
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. 6 56
28205584 2017
5
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. 6 56
27381093 2016
6
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. 6 56
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
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Congenital synspondylism. 56
1536163 1992
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Variations for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

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

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH3 NM_002470.4(MYH3):c.4647+1G>ASNV Pathogenic 587701 rs1567552713 17:10536907-10536907 17:10633590-10633590
2 MYH3 NM_002470.4(MYH3):c.1581+1G>ASNV Pathogenic 587702 rs1350968647 17:10546142-10546142 17:10642825-10642825
3 MYH3 NM_002470.4(MYH3):c.1411-391_1411-219deldeletion Pathogenic 587704 rs1567558314 17:10546532-10546704 17:10643215-10643387
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.3224A>C (p.Gln1075Pro)SNV Pathogenic 203471 rs796051884 17:10542385-10542385 17:10639068-10639068
6 MYH3 NM_002470.4(MYH3):c.3214_3216dup (p.Asn1072dup)duplication Pathogenic 235829 rs878853126 17:10542392-10542393 17:10639075-10639076
7 MYH3 NM_002470.4(MYH3):c.724_726TCC[1] (p.Ser243del)short repeat Likely pathogenic 203472 rs1555527166 17:10551880-10551882 17:10648563-10648565
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.700G>A (p.Ala234Thr)SNV Likely pathogenic 14145 rs121913623 17:10551909-10551909 17:10648592-10648592
11 MYH3 NM_002470.4(MYH3):c.-9+1G>ASNV Conflicting interpretations of pathogenicity 587706 rs557849165 17:10559406-10559406 17:10656089-10656089
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 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
3 MYH3 p.Thr333Arg VAR_082277

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

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

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

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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 miRNA mediated inhibition of translation GO:0035278 9.33 MIR9-1 MIR21 MIR17
2 positive regulation of metalloendopeptidase activity GO:1904685 8.96 MIR21 MIR17
3 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 8.62 MIR21 MIR17

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 8.92 MIR9-1 MIR24-1 MIR21 MIR17
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Sources for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
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54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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