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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
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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 57 73 28 5
Multiple Pterygium Syndrome, Autosomal Dominant 57 73 71
Contractures, Pterygia, and Spondylocarpostarsal Fusion Syndrome 1a 57 38
Cpsfs1a 57 73
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a 57
Pterygium Syndrome, Multiple, Autosomal Dominant 73
Autosomal Dominant Multiple Pterygium Syndrome 58
Arthrogryposis, Distal, Type 8, Formerly 57
Arthrogryposis, Distal, Type 8 73
Pterygium Syndrome, Multiple 57
Distal Arthrogryposis Type 8 58
Autosomal Dominant 57
Da8, Formerly 57
Cpskf1a 57
Da8 73

Characteristics:


Inheritance:

Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a: Autosomal dominant 57
Autosomal Dominant Multiple Pterygium Syndrome: Autosomal dominant 58

Prevelance:

Autosomal Dominant Multiple Pterygium Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Autosomal Dominant Multiple Pterygium Syndrome: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
inter- and intrafamilial phenotypic variability


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 178110
OMIM Phenotypic Series 57 PS178110
MeSH 43 D001176
ICD10 via Orphanet 32 Q79.8
UMLS via Orphanet 72 C1867440
Orphanet 58 ORPHA65743
MedGen 40 C1867440
UMLS 71 C1867440
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Summaries for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

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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 08-Dec-2022)

MalaCards based summary: Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a, also known as multiple pterygium syndrome, autosomal dominant, is related to autosomal dominant polycystic kidney disease and hypocalcemia, autosomal dominant 1. An important gene associated with Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a is MYH3 (Myosin Heavy Chain 3). 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

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.
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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 4597)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant polycystic kidney disease 11.8
2 hypocalcemia, autosomal dominant 1 11.8
3 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 11.8
4 leukodystrophy, demyelinating, adult-onset, autosomal dominant 11.8
5 hyper-ige recurrent infection syndrome 1, autosomal dominant 11.7
6 optic atrophy 3, autosomal dominant 11.7
7 osteopetrosis, autosomal dominant 2 11.7
8 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 11.7
9 tubulointerstitial kidney disease, autosomal dominant, 2 11.7
10 autosomal dominant nocturnal frontal lobe epilepsy 11.7
11 pseudohypoaldosteronism, type i, autosomal dominant 11.7
12 endosteal hyperostosis, autosomal dominant 11.7
13 polycystic kidney disease 1 with or without polycystic liver disease 11.7
14 vitreoretinochoroidopathy 11.7
15 cutis laxa, autosomal dominant 1 11.6
16 hypophosphatemic rickets, autosomal dominant 11.6
17 myopathy, centronuclear, 1 11.6
18 osteopetrosis, autosomal dominant 1 11.6
19 optic atrophy 1 11.6
20 emery-dreifuss muscular dystrophy 2, autosomal dominant 11.6
21 deafness, autosomal dominant 6 11.6
22 epilepsy, familial temporal lobe, 1 11.6
23 autosomal dominant cerebellar ataxia 11.6
24 deafness, autosomal dominant 22 11.6
25 polycystic kidney disease 11.6
26 immunodeficiency 27b 11.6
27 craniometaphyseal dysplasia, autosomal dominant 11.6
28 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 11.6
29 spinocerebellar ataxia 27 11.6
30 charcot-marie-tooth disease, axonal, type 2e 11.6
31 deafness, autosomal dominant 12 11.6
32 spastic paraplegia 3, autosomal dominant 11.6
33 muscular dystrophy, limb-girdle, autosomal dominant 1 11.6
34 intellectual developmental disorder, autosomal dominant 13 11.6
35 spastic paraplegia 4, autosomal dominant 11.6
36 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.6
37 tubulointerstitial kidney disease, autosomal dominant, 1 11.6
38 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities 11.5
39 epidermolysis bullosa dystrophica, autosomal dominant 11.5
40 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.5
41 deafness, autosomal dominant 4a 11.5
42 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.5
43 autosomal dominant alport syndrome 11.5
44 intellectual developmental disorder, autosomal dominant 5 11.5
45 deafness, autosomal dominant 1, with or without thrombocytopenia 11.5
46 deafness, autosomal dominant 20 11.5
47 isolated growth hormone deficiency, type ii 11.5
48 muscular dystrophy, limb-girdle, autosomal dominant 2 11.5
49 muscular dystrophy, limb-girdle, autosomal dominant 3 11.5
50 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.5

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:

30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 30 Occasional (7.5%) HP:0000175
2 spondylolisthesis 30 Occasional (7.5%) HP:0003302
3 craniosynostosis 30 Occasional (7.5%) HP:0001363
4 hip contracture 30 Occasional (7.5%) HP:0003273
5 hearing impairment 30 Very rare (1%) HP:0000365
6 pectus carinatum 30 Very rare (1%) HP:0000768
7 microcephaly 30 Very rare (1%) HP:0000252
8 barrel-shaped chest 30 Very rare (1%) HP:0001552
9 scoliosis 30 HP:0002650
10 ptosis 30 HP:0000508
11 short neck 30 HP:0000470
12 short stature 30 HP:0004322
13 elbow flexion contracture 30 HP:0002987
14 downslanted palpebral fissures 30 HP:0000494
15 low-set, posteriorly rotated ears 30 HP:0000368
16 hemivertebrae 30 HP:0002937
17 arthrogryposis multiplex congenita 30 HP:0002804
18 vertebral fusion 30 HP:0002948
19 knee flexion contracture 30 HP:0006380
20 camptodactyly 30 HP:0012385
21 carpal synostosis 30 HP:0009702
22 multiple pterygia 30 HP:0001040
23 long nasal bridge 30 HP:0033142
24 tarsal synostosis 30 HP:0008368

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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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 174)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
2
Candesartan cilexetil Approved Phase 4 145040-37-5
3
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
4
Curcumin Approved, Investigational Phase 4 458-37-7, 84765-67-3 969516
5
Celiprolol Approved, Investigational Phase 4 56980-93-9 2663
6
Amiloride Approved Phase 4 17440-83-4, 2016-88-8, 2609-46-3 16231
7
Candesartan Experimental Phase 4 139481-59-7 2541
8
Cilnidipine Investigational Phase 4 132203-70-4 2752 5282138
9 Adrenergic alpha-Antagonists Phase 4
10
Angiotensinogen Phase 4 16133225
11 Angiotensin-Converting Enzyme Inhibitors Phase 4
12 Angiotensin Receptor Antagonists Phase 4
13 Angiotensin II Type 1 Receptor Blockers Phase 4
14 calcium channel blockers Phase 4
15 Giapreza Phase 4
16 Adrenergic Antagonists Phase 4
17 Adrenergic Agents Phase 4
18 Antihypertensive Agents Phase 4
19 Analgesics Phase 4
20 Antirheumatic Agents Phase 4
21 Anti-Inflammatory Agents, Non-Steroidal Phase 4
22 Analgesics, Non-Narcotic Phase 4
23 Vasodilator Agents Phase 4
24 Adrenergic beta-Antagonists Phase 4
25 Adrenergic beta-1 Receptor Antagonists Phase 4
26 Anti-Arrhythmia Agents Phase 4
27 Neurotransmitter Agents Phase 4
28 Sympathomimetics Phase 4
29 Anti-Inflammatory Agents Phase 4
30 Diuretics, Potassium Sparing Phase 4
31 diuretics Phase 4
32 Sodium Channel Blockers Phase 4
33
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605 16129706
34
Pravastatin Approved Phase 3 81093-37-0 54687
35
Lanreotide Approved Phase 3 108736-35-2 71349 6918011
36
Octreotide Approved, Investigational Phase 2, Phase 3 83150-76-9 383414 6400441
37
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
38
Lactitol Approved, Investigational Phase 3 585-86-4 157355
39
Carbamide peroxide Approved Phase 2, Phase 3 124-43-6
40
Mipomersen Approved, Investigational Phase 3 1000120-98-8 44564107
41
Metformin Approved Phase 3 1115-70-4, 657-24-9 4091
42
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030
43
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
44
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
45
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
46
Tannic acid Approved Phase 2, Phase 3 1401-55-4 16129878 16129778
47
Triptolide Investigational Phase 3 38748-32-2 5589
48 Alkylating Agents Phase 3
49 Antineoplastic Agents, Alkylating Phase 3
50 Contraceptive Agents, Male Phase 3

Interventional clinical trials:

(show top 50) (show all 179)
# 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 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Unknown status NCT03596957 Phase 4 Tolvaptan
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 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Completed NCT02494141 Phase 4 Curcumin
5 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Completed NCT03949894 Phase 4 Tolvaptan
6 Patient Related OuTcomes With Endeavor Versus Cypher Stenting Trial: PROTECT Continued Access Post Marketing Surveillance Trial Completed NCT00846846 Phase 4
7 Prevention of Vascular Complications by BetaBlocker Treatment in Vascular Ehlers-Danlos Syndrome Completed NCT00190411 Phase 4 celiprolol;Control
8 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
9 Treatment of Vascular Stiffness in Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT05228574 Phase 4 Amiloride Hcl 5mg Tab
10 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Unknown status NCT02055079 Phase 3 Sirolimus;Placebo
11 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease. A Phase 3a, Indipendent, Multicentre, Two Parallel Arms, Randomized Controlled Trial Unknown status NCT03764605 Phase 3 Metformin;Tolvaptan
12 Randomized Controlled Trial of Triptolide-Containing Formulation for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
13 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
14 Open-Label Extension of the LOCKCYST Trial, LOCKCYST: Long Acting Lnareotide as as Volume Reducing Treatment of Polycystic Livers Unknown status NCT00771888 Phase 2, Phase 3 lanreotide
15 Lanreotide In Polycystic Kidney Disease Study Completed NCT02127437 Phase 3 Lanreotide;saline
16 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
17 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
18 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
19 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
20 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
21 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
22 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) Completed NCT02964273 Phase 3 Phase A Tolvaptan;Placebo Phase A;Phase B Tolvaptan
23 Effect of Long-acting Somatostatin on Liver in Autosomal Dominant Polycystic Kidney Disease Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
24 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
25 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
26 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
27 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
28 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
29 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
30 Low Osmolar Diet and Adjusted Water Intake for Vasopressin Suppression in ADPKD Completed NCT02225860 Phase 2, Phase 3
31 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
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 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
34 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
35 An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia Completed NCT00694109 Phase 3 Mipomersen Sodium
36 A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety and Efficacy of Mipomersen as Add-on Therapy in Homozygous Familial Hypercholesterolemia Subjects Completed NCT00607373 Phase 3 mipomersen;Placebo
37 An Extended Access Program to Assess Long Term Safety of Bardoxolone Methyl in Patients With Chronic Kidney Disease Recruiting NCT03749447 Phase 3 Bardoxolone methyl
38 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
39 Implementation of Metformin theraPy to Ease Decline of Kidney Function in Polycystic Kidney Disease (IMPEDE-PKD): A Randomised Placebo-Controlled Trial Not yet recruiting NCT04939935 Phase 3 Metformin XR
40 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) Terminated NCT04705051 Phase 3 Venglustat GZ402671
41 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 Terminated NCT04152837 Phase 3 Lixivaptan
42 A Phase 3 Study of the Efficacy and Safety of Lixivaptan in Participants With Autosomal Dominant Polycystic Kidney Disease Consisting of a 1-year Double-blind, Placebo-controlled, Randomized Phase and a 1-year Open-label Phase: The ACTION Study Terminated NCT04064346 Phase 3 Lixivaptan;Placebo
43 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) Terminated NCT03523728 Phase 2, Phase 3 Venglustat;Placebo
44 Rapamycin as Treatment for ADPKD: The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
45 PA-ADPKD-304: A Phase 3, Open-label, Roll-over Study to Assess Long-term Safety of Lixivaptan in Participants With Autosomal Dominant Polycystic Kidney Disease Who Completed Study PA-ADPKD-303: The ALERT Study Terminated NCT05208866 Phase 3 Lixivaptan
46 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
47 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
48 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
49 A Randomized, Placebo Controlled Clinical Trial of SOM230 (Pasireotide LAR) In Severe Polycystic Liver Disease Completed NCT01670110 Phase 2 Pasireotide LAR;Placebo
50 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

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 Spondylocarpotarsal Fusion Syndrome 1a 28 MYH3
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Anatomical Context for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome...

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

MalaCards : Kidney, Liver, Endothelial, Bone, Brain, Skeletal Muscle, Temporal Lobe
Sources

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

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

(show top 50) (show all 30008)
# Title Authors PMID Year
1
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions. 62 57 5
29314551 2018
2
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. 62 57 5
28205584 2017
3
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. 62 57 5
27381093 2016
4
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. 62 57 5
25957469 2015
5
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. 62 57 5
18470895 2008
6
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. 57 5
29805041 2018
7
An autosomal dominant multiple pterygium syndrome. 62 57
2831369 1988
8
Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form? 57
16964621 2006
9
A revised and extended classification of the distal arthrogryposes. 57
8923935 1996
10
Congenital synspondylism. 57
1536163 1992
11
Autosomal Dominant Polycystic Kidney Disease: Role of Imaging in Diagnosis and Management. 62
36459494 2023
12
Discovery of Novel N-(5-(Pyridin-3-yl)-1H-indazol-3-yl)benzamide Derivatives as Potent Cyclin-Dependent Kinase 7 Inhibitors for the Treatment of Autosomal Dominant Polycystic Kidney Disease. 62
36384292 2022
13
Considerations for genetic testing in individuals with autosomal dominant polycystic kidney disease. 62
36469907 2022
14
The effects of the renin-angiotensin-aldosterone system blockers on serum ischemia-modified albumin levels in autosomal dominant polycystic kidney disease. 62
35067861 2022
15
Bleeding risk in patients with autosomal dominant polycystic kidney disease treated with acetylsalicylic acid: implications for prevention of preeclampsia. 62
35829910 2022
16
Kinase Inhibition by PKC412 Prevents Epithelial Sheet Damage in Autosomal Dominant Epidermolysis Bullosa Simplex through Keratin and Cell Contact Stabilization. 62
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Maternal gonosomal mosaicism in rare autosomal dominant SLFN14-related thrombocytopenia. 62
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18
APOE ε4 influences cognitive decline positively in APP and negatively in PSEN1 mutation carriers with autosomal-dominant Alzheimer's disease. 62
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19
A rare cause of galactorrhea in autosomal dominant polycystic kidney disease: pituitary stalk compression by an intracranial aneurysm. 62
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20
Role of abnormal energy metabolism in the progression of chronic kidney disease and drug intervention. 62
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21
Prenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature. 62
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Constructional Impairments and Their Neural Correlates in Nondemented Adults With Cerebral Autosomal-dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. 62
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23
TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration. 62
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Romosozumab successfully regulated progressive osteoporosis in a patient with autosomal dominant polycystic kidney disease undergoing hemodialysis. 62
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Endothelium-Specific Deficiency of Polycystin-1 Promotes Hypertension and Cardiovascular Disorders. 62
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Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing. 62
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27
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1. 62
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Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP). 62
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Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg? 62
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30
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31
Non-convulsive status epilepticus as the initial manifestation in a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 62
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32
Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 62
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Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations. 62
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Evidence of beta amyloid independent small vessel disease in familial Alzheimer's disease. 62
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Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers. 62
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Microduplication of BTRC detected in a Chinese family with split hand/foot malformation type 3. 62
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Sources

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

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

5 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH3 NM_002470.4(MYH3):c.-9+1G>A SNV Pathogenic
Pathogenic
 587706 rs557849165 GRCh37: 17:10559406-10559406
GRCh38: 17:10656089-10656089
2 MYH3 NM_002470.4(MYH3):c.3214_3216dup (p.Asn1072dup) DUP Pathogenic
 235829 rs878853126 GRCh37: 17:10542392-10542393
GRCh38: 17:10639075-10639076
3 MYH3 NM_002470.4(MYH3):c.4647+1G>A SNV Pathogenic
 587701 rs1567552713 GRCh37: 17:10536907-10536907
GRCh38: 17:10633590-10633590
4 MYH3 NM_002470.4(MYH3):c.1581+1G>A SNV Pathogenic
Pathogenic
 587702 rs1350968647 GRCh37: 17:10546142-10546142
GRCh38: 17:10642825-10642825
5 MYH3 NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter) SNV Pathogenic
 587703 rs1567564042 GRCh37: 17:10558241-10558241
GRCh38: 17:10654924-10654924
6 MYH3 NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs) DEL Pathogenic
 503890 rs771300756 GRCh37: 17:10544659-10544663
GRCh38: 17:10641342-10641346
7 MYH3 NM_002470.4(MYH3):c.1411-391_1411-219del DEL Pathogenic
 587704 rs1567558314 GRCh37: 17:10546532-10546704
GRCh38: 17:10643215-10643387
8 MYH3 NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del) MICROSAT Pathogenic
 203472 rs1555527166 GRCh37: 17:10551880-10551882
GRCh38: 17:10648563-10648565
9 MYH3 NM_002470.4(MYH3):c.3224A>C (p.Gln1075Pro) SNV Pathogenic
 203471 rs796051884 GRCh37: 17:10542385-10542385
GRCh38: 17:10639068-10639068
10 MYH3 NM_002470.4(MYH3):c.4111C>T (p.Gln1371Ter) SNV Pathogenic
 1708265 GRCh37: 17:10538745-10538745
GRCh38: 17:10635428-10635428
11 MYH3 NM_002470.4(MYH3):c.859T>G (p.Phe287Val) SNV Likely Pathogenic
 634841 rs1567560080 GRCh37: 17:10550538-10550538
GRCh38: 17:10647221-10647221
12 MYH3 NM_002470.4(MYH3):c.700G>A (p.Ala234Thr) SNV Likely Pathogenic
 14145 rs121913623 GRCh37: 17:10551909-10551909
GRCh38: 17:10648592-10648592
13 MYH3 NM_002470.4(MYH3):c.998C>G (p.Thr333Arg) SNV Likely Pathogenic
 634839 rs1567559562 GRCh37: 17:10549250-10549250
GRCh38: 17:10645933-10645933
14 MYH3 NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro) SNV Uncertain Significance
 634840 rs1567553806 GRCh37: 17:10538825-10538825
GRCh38: 17:10635508-10635508
15 MYH3 NM_002470.4(MYH3):c.5618A>C (p.Gln1873Pro) SNV Uncertain Significance
 1065447 GRCh37: 17:10533199-10533199
GRCh38: 17:10629882-10629882
16 MYH3 NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln) SNV Uncertain Significance
 587607 rs1567553702 GRCh37: 17:10538727-10538727
GRCh38: 17:10635410-10635410
17 MYH3 NM_002470.3(MYH3):c.725C>T (p.Ser242Phe) SNV Uncertain Significance
 587705 rs1567560718 GRCh37: 17:10551884-10551884
GRCh38: 17:10648567-10648567
18 MYH3 NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) SNV Benign
 129656 rs2285475 GRCh37: 17:10542471-10542471
GRCh38: 17:10639154-10639154
19 MYH3 NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr) SNV Benign
 129658 rs2285477 GRCh37: 17:10541515-10541515
GRCh38: 17:10638198-10638198
20 MYH3 NM_002470.4(MYH3):c.1581+13A>C SNV Benign
 258671 rs2285468 GRCh37: 17:10546130-10546130
GRCh38: 17:10642813-10642813
21 MYH3 NM_002470.4(MYH3):c.2166-15A>G SNV Benign
 258673 rs876660 GRCh37: 17:10544018-10544018
GRCh38: 17:10640701-10640701
22 MYH3 NM_002470.4(MYH3):c.2926-12A>G SNV Benign
 258676 rs2285473 GRCh37: 17:10542803-10542803
GRCh38: 17:10639486-10639486
23 MYH3 NM_002470.4(MYH3):c.1960-8del DEL Benign
 321752 rs3216884 GRCh37: 17:10544697-10544697
GRCh38: 17:10641380-10641380
24 MYH3 NM_002470.4(MYH3):c.4956+32C>T SNV Benign
 258690 rs4792008 GRCh37: 17:10535761-10535761
GRCh38: 17:10632444-10632444
25 MYH3 NM_002470.4(MYH3):c.5796+30C>T SNV Benign
 258701 rs12940161 GRCh37: 17:10532884-10532884
GRCh38: 17:10629567-10629567
26 MYH3 NM_002470.4(MYH3):c.1003-22C>T SNV Benign
 258667 rs2239933 GRCh37: 17:10549184-10549184
GRCh38: 17:10645867-10645867
27 MYH3 NM_002470.4(MYH3):c.1141+32G>A SNV Benign
 258668 rs2239934 GRCh37: 17:10548992-10548992
GRCh38: 17:10645675-10645675
28 MYH3 NM_002470.4(MYH3):c.349-36A>G SNV Benign
 258681 rs2285467 GRCh37: 17:10555021-10555021
GRCh38: 17:10651704-10651704
29 MYH3 NM_002470.4(MYH3):c.349-43C>T SNV Benign
 258682 rs2285466 GRCh37: 17:10555028-10555028
GRCh38: 17:10651711-10651711
30 MYH3 NM_002470.4(MYH3):c.534-44T>C SNV Benign
 258695 rs1989810 GRCh37: 17:10553046-10553046
GRCh38: 17:10649729-10649729
31 MYH3 NM_002470.4(MYH3):c.2682+30_2682+31del DEL Benign
 1222180 GRCh37: 17:10543282-10543283
GRCh38: 17:10639965-10639966
32 MYH3 NM_002470.4(MYH3):c.643-43dup DUP Benign
 1262563 GRCh37: 17:10552000-10552001
GRCh38: 17:10648683-10648684
33 MYH3 NM_002470.4(MYH3):c.4731C>T (p.Ile1577=) SNV Benign
 129663 rs2285479 GRCh37: 17:10536018-10536018
GRCh38: 17:10632701-10632701
34 MYH3 NM_002470.4(MYH3):c.4957-16G>C SNV Benign
 258691 rs2239936 GRCh37: 17:10535349-10535349
GRCh38: 17:10632032-10632032
35 MYH3 NM_002470.4(MYH3):c.5457+9dup DUP Benign
 258698 rs397750512 GRCh37: 17:10533595-10533596
GRCh38: 17:10630278-10630279
36 MYH3 NM_002470.4(MYH3):c.2151C>A (p.Gly717=) SNV Benign
 129649 rs876657 GRCh37: 17:10544416-10544416
GRCh38: 17:10641099-10641099
37 MYH3 NM_002470.4(MYH3):c.2532A>G (p.Ala844=) SNV Benign
 129650 rs2285469 GRCh37: 17:10543463-10543463
GRCh38: 17:10640146-10640146
38 MYH3 NM_002470.4(MYH3):c.2916A>G (p.Thr972=) SNV Benign
 129652 rs2285472 GRCh37: 17:10542886-10542886
GRCh38: 17:10639569-10639569
39 MYH3 NM_002470.4(MYH3):c.2952T>C (p.Ser984=) SNV Benign
 129653 rs2285474 GRCh37: 17:10542765-10542765
GRCh38: 17:10639448-10639448

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 rs1567560080
3 MYH3 p.Thr333Arg VAR_082277 rs1567559562

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

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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