CPSKF1A
MCID: CNT110
MIFTS: 61

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 57
Distal Arthrogryposis Type 8 53 59 29 6
Multiple Pterygium Syndrome, Autosomal Dominant 57 74
Autosomal Dominant Multiple Pterygium Syndrome 53 59
Arthrogryposis, Distal, Type 8 74 40
Autosomal Dominant Disease 12 15
Arthrogryposis, Distal, Type 8, Formerly; Da8, Formerly 57
Pterygium Syndrome, Multiple; Autosomal Dominant 57
Pterygium Syndrome, Multiple, Autosomal Dominant 74
Arthrogryposis, Distal, Type 8, Formerly 57
Pterygium Syndrome, Multiple 57
Autosomal Dominant Disorder 15
Arthrogryposis, Distal, 8 74
Autosomal Dominant 57
Da8, Formerly 57
Cpskf1a 57
Da8 74

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant multiple pterygium syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
inter- and intrafamilial phenotypic variability


HPO:

32
contractures, pterygia, and variable skeletal fusions syndrome 1a:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050736
MeSH 44 D001176
ICD10 via Orphanet 34 Q79.8
UMLS via Orphanet 73 C1867440
Orphanet 59 ORPHA65743
MedGen 42 C1867440

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

OMIM : 57 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)

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 spinocerebellar ataxia 18. 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 Platinum drug resistance and Mismatch repair. The drugs Candesartan cilexetil and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and endothelial, and related phenotypes are cleft palate and spondylolisthesis

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

UniProtKB/Swiss-Prot : 74 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.

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 4129)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 34.7 CACNA1A ATXN7 ATXN3
2 spinocerebellar ataxia 18 34.0 CACNA1A ATXN7 ATXN3
3 spinocerebellar ataxia 1 33.3 CACNA1A ATXN7 ATXN3
4 spinocerebellar ataxia 17 33.3 CACNA1A ATXN7 ATXN3
5 spinocerebellar ataxia 2 33.3 CACNA1A ATXN7 ATXN3
6 machado-joseph disease 33.3 CACNA1A ATXN7 ATXN3
7 legius syndrome 33.3 NF1 MSH6 MSH2
8 dentatorubral-pallidoluysian atrophy 33.2 CACNA1A ATXN7 ATXN3
9 spinocerebellar ataxia 6 33.1 CACNA1A ATXN7 ATXN3
10 mismatch repair cancer syndrome 33.1 PMS2 MSH6 MSH2 MLH1
11 multiple endocrine neoplasia, type i 33.1 SDHD SDHB RET MEN1
12 spinocerebellar ataxia 31 33.1 CACNA1A ATXN7 ATXN3
13 spinocerebellar ataxia 12 33.1 CACNA1A ATXN7 ATXN3
14 lynch syndrome 33.0 PMS2 MSH6 MSH2 MLH1
15 muir-torre syndrome 33.0 PMS2 MSH6 MSH2 MLH1
16 colorectal cancer, hereditary nonpolyposis, type 5 33.0 MSH6 MSH2 MLH1
17 lynch syndrome i 32.9 PMS2 MSH6 MSH2 MLH1
18 multiple endocrine neoplasia, type iia 32.9 SDHD SDHB RET NF1 MEN1
19 colorectal cancer, hereditary nonpolyposis, type 7 32.9 MSH2 MLH1
20 familial adenomatous polyposis 32.8 MSH6 MSH2 MLH1
21 colorectal cancer, hereditary nonpolyposis, type 4 32.8 PMS2 MSH2 MLH1
22 multiple endocrine neoplasia 32.8 SDHB RET NF1 MEN1
23 paragangliomas 1 32.7 SDHD SDHB RET
24 von hippel-lindau syndrome 32.7 SDHD SDHB RET NF1 MEN1
25 hereditary paraganglioma-pheochromocytoma syndromes 32.7 SDHD SDHB RET
26 attenuated familial adenomatous polyposis 32.7 MSH6 MSH2
27 gastrointestinal stromal tumor 32.6 SDHD SDHB NF1 MEN1
28 neurofibromatosis, familial spinal 32.3 NF2 NF1
29 neurofibromatosis, type iv, of riccardi 32.3 SDHD SDHB RET PMS2 NF2 NF1
30 hyperparathyroidism 2 with jaw tumors 32.3 RET MEN1
31 aceruloplasminemia 31.5 CACNA1A ATXN7 ATXN3
32 hereditary ataxia 31.5 CACNA1A ATXN7 ATXN3
33 adenoma 31.4 RET MSH2 MLH1 MEN1
34 retinal disease 31.1 CFH ARMS2 ABCA4
35 paraganglioma 30.9 SDHD SDHB RET NF1
36 cerebellar disease 30.7 CACNA1A ATXN7 ATXN3
37 primary cerebellar degeneration 30.5 CACNA1A ATXN3
38 anal fistula 30.5 MSH2 MLH1
39 ependymoma 30.5 TTR NF2 MEN1
40 pheochromocytoma 30.3 SDHD SDHB RET NF1 MEN1
41 hypocalcemia, autosomal dominant 1 12.6
42 osteopetrosis, autosomal dominant 2 12.6
43 autosomal dominant polycystic kidney disease 12.6
44 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 12.6
45 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.6
46 optic atrophy 3, autosomal dominant 12.6
47 pseudohypoaldosteronism, type i, autosomal dominant 12.6
48 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 12.6
49 leukodystrophy, demyelinating, adult-onset, autosomal dominant 12.6
50 hypophosphatemic rickets, autosomal dominant 12.6

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:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 occasional (7.5%) HP:0000175
2 spondylolisthesis 32 occasional (7.5%) HP:0003302
3 craniosynostosis 32 occasional (7.5%) HP:0001363
4 hip contracture 32 occasional (7.5%) HP:0003273
5 short neck 32 HP:0000470
6 ptosis 32 HP:0000508
7 scoliosis 32 HP:0002650
8 short stature 32 HP:0004322
9 elbow flexion contracture 32 HP:0002987
10 arthrogryposis multiplex congenita 32 HP:0002804
11 low-set, posteriorly rotated ears 32 HP:0000368
12 hemivertebrae 32 HP:0002937
13 downslanted palpebral fissures 32 HP:0000494
14 vertebral fusion 32 HP:0002948
15 camptodactyly 32 HP:0012385
16 knee flexion contracture 32 HP:0006380
17 multiple pterygia 32 HP:0001040

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck
webbing of neck

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

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)

Head And Neck Eyes:
ptosis
downslanting palpebral fissures

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 9.1 CACNA1A CFH MLH1 MSH6 PKD1 PMS2
2 Increased proliferation GR00094-A 8.96 MEN1 NF2

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

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.41 ABCA4 ATXN3 CACNA1A CFH MEN1 MLH1
2 cellular MP:0005384 10.28 CACNA1A MEN1 MLH1 MSH2 MSH6 NF1
3 mortality/aging MP:0010768 10.28 ATXN7 CACNA1A CFH MEN1 MLH1 MSH2
4 hematopoietic system MP:0005397 10.27 ABCA4 CACNA1A CFH MLH1 MSH2 MSH6
5 immune system MP:0005387 10.23 ABCA4 CACNA1A CFH MEN1 MLH1 MSH2
6 endocrine/exocrine gland MP:0005379 10.21 CACNA1A MEN1 MLH1 NF1 NF2 PKD1
7 cardiovascular system MP:0005385 10.2 ABCA4 CFH MEN1 NF1 PKD1 RET
8 digestive/alimentary MP:0005381 10.18 MEN1 MLH1 MSH2 NF1 PKD1 PMS2
9 neoplasm MP:0002006 10.06 MEN1 MLH1 MSH2 MSH6 NF1 NF2
10 integument MP:0010771 10.03 CACNA1A MLH1 MSH2 MSH6 NF1 NF2
11 nervous system MP:0003631 10.03 ABCA4 ATXN3 ATXN7 CACNA1A CFH MEN1
12 muscle MP:0005369 9.91 ATXN7 CACNA1A MEN1 NF1 PKD1 RET
13 renal/urinary system MP:0005367 9.7 CFH NF1 NF2 PKD1 RET SDHB
14 respiratory system MP:0005388 9.5 CACNA1A MLH1 NF1 NF2 PKD1 RET
15 vision/eye MP:0005391 9.23 ABCA4 ATXN7 CACNA1A CFH MLH1 NF1

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 353)
# 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 6436030 5284616 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 4091 14219
7
Celiprolol Approved, Investigational Phase 4 56980-93-9
8
Phenoxybenzamine Approved Phase 4 59-96-1 4768
9
Doxazosin Approved Phase 4 74191-85-8 3157
10
Pravastatin Approved Phase 4 81093-37-0 54687
11
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
12
Bevacizumab Approved, Investigational Phase 4 216974-75-3
13
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
14
Cilnidipine Investigational Phase 4 132203-70-4 5282138
15
Candesartan Experimental Phase 4 139481-59-7 2541
16
Enclomiphene Investigational Phase 4 15690-57-0
17 Antifungal Agents Phase 4
18 Anti-Infective Agents Phase 4
19 Anti-Bacterial Agents Phase 4
20 Immunosuppressive Agents Phase 4
21 Antibiotics, Antitubercular Phase 4
22 Neurotransmitter Agents Phase 4
23 Central Nervous System Stimulants Phase 4
24 Neurotransmitter Uptake Inhibitors Phase 4
25 Dopamine Uptake Inhibitors Phase 4
26 Dopamine Agents Phase 4
27 Adrenergic Antagonists Phase 4
28 Adrenergic Agents Phase 4
29 Vasodilator Agents Phase 4
30 Antihypertensive Agents Phase 4
31 Hormone Antagonists Phase 4
32 Hormones, Hormone Substitutes, and 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 Selective Estrogen Receptor Modulators Phase 4
40 Fertility Agents Phase 4
41 Chelating Agents Phase 4
42 Clomiphene Phase 4
43 Estrogen Receptor Modulators Phase 4
44 Anticoagulants Phase 4
45 Zuclomiphene Phase 4
46 Adrenergic alpha-1 Receptor Antagonists Phase 4
47 Lipid Regulating Agents Phase 4
48 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
49 Hypolipidemic Agents Phase 4
50 Anticholesteremic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 390)
# 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 Therapeutic Effect of Vitamin D3 Supplementation to Clomiphene Citrate Resistant Polycystic Ovary Syndrome Women Completed NCT04010942 Phase 4 Vit D;Metformin;Clomiphene
6 Patient Related OuTcomes With Endeavor Versus Cypher Stenting Trial: PROTECT Continued Access Post Marketing Surveillance Trial Completed NCT00846846 Phase 4
7 Pheochromocytoma Randomised Study Comparing Adrenoreceptor Inhibiting Agents for Preoperative Treatment Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
8 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 Phase 4 Tolvaptan
9 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Recruiting NCT02494141 Phase 4 Curcumin
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 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Not yet recruiting NCT03949894 Phase 4 Tolvaptan
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 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
20 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
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 A Phase 3b, Multi-center, Open-label Trial to Evaluate the Long Term Safety of Titrated 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 (OPC-41061)
25 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
26 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
27 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
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 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
31 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
32 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
33 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
34 Low Osmolar Diet and Adjusted Water Intake for Vasopressin Suppression in ADPKD Completed NCT02225860 Phase 2, Phase 3
35 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
36 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
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, 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)
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 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
41 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
42 Neuroleptic and Huntington Disease. Comparison of : Olanzapine, la Tetrabenazine and Tiapride. A Multicentric, Randomised, Controlled Study. Completed NCT00632645 Phase 3 Olanzapine;Xenazine;Tiapridal
43 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
44 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
45 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
46 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
47 Polycystic Kidney Disease-Treatment Network Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
48 Polycystic Kidney Disease-Treatment Network Completed NCT01885559 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:

41
Kidney, Liver, Endothelial, Bone, Eye, Testes, Colon

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. 38 8 71
25957469 2015
2
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. 8 71
29805041 2018
3
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions. 8 71
29314551 2018
4
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. 8 71
27381093 2016
5
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. 8 71
18470895 2008
6
An autosomal dominant multiple pterygium syndrome. 38 8
2831369 1988
7
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. 8
28205584 2017
8
Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form? 8
16964621 2006
9
A revised and extended classification of the distal arthrogryposes. 8
8923935 1996
10
Congenital synspondylism. 8
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MYH3 NM_002470.4(MYH3): c.3224A> C (p.Gln1075Pro) single nucleotide variant Pathogenic rs796051884 17:10542385-10542385 17:10639068-10639068
2 MYH3 NM_002470.4(MYH3): c.4647+1G> A single nucleotide variant Pathogenic 17:10536907-10536907 17:10633590-10633590
3 MYH3 NM_002470.4(MYH3): c.1581+1G> A single nucleotide variant Pathogenic 17:10546142-10546142 17:10642825-10642825
4 MYH3 NM_002470.4(MYH3): c.1411-391_1411-219del deletion Pathogenic 17:10546532-10546704 17:10643215-10643387
5 MYH3 NM_002470.4(MYH3): c.141T> G (p.Tyr47Ter) single nucleotide variant Pathogenic 17:10558241-10558241 17:10654924-10654924
6 MYH3 NM_002470.4(MYH3): c.-9+1G> A single nucleotide variant Pathogenic 17:10559406-10559406 17:10656089-10656089
7 MYH3 NM_002470.4(MYH3): c.998C> G (p.Thr333Arg) single nucleotide variant Pathogenic 17:10549250-10549250 17:10645933-10645933
8 MYH3 NM_002470.4(MYH3): c.4031T> C (p.Leu1344Pro) single nucleotide variant Pathogenic 17:10538825-10538825 17:10635508-10635508
9 MYH3 NM_002470.4(MYH3): c.859T> G (p.Phe287Val) single nucleotide variant Pathogenic 17:10550538-10550538 17:10647221-10647221
10 MYH3 NM_002470.4(MYH3): c.3214_3216dup (p.Asn1072dup) duplication Pathogenic rs878853126 17:10542393-10542395 17:10639076-10639078
11 MYH3 NM_002470.4(MYH3): c.724_726TCC[1] (p.Ser243del) short repeat Likely pathogenic rs1555527166 17:10551880-10551882 17:10648563-10648565
12 MYH3 NM_002470.4(MYH3): c.700G> A (p.Ala234Thr) single nucleotide variant Likely pathogenic rs121913623 17:10551909-10551909 17:10648592-10648592
13 MYH3 NM_002470.4(MYH3): c.1986_1990del (p.Asn662fs) deletion Conflicting interpretations of pathogenicity rs771300756 17:10544659-10544663 17:10641342-10641346
14 MYH3 NM_002470.4(MYH3): c.4129G> C (p.Glu1377Gln) single nucleotide variant Uncertain significance 17:10538727-10538727 17:10635410-10635410
15 MYH3 NM_002470.3(MYH3): c.725C> T (p.Ser242Phe) single nucleotide variant no interpretation for the single variant 17:10551884-10551884 17:10648567-10648567
16 MYH3 NM_002470.4(MYH3): c.721A> G (p.Asn241Asp) single nucleotide variant no interpretation for the single variant 17:10551888-10551888 17:10648571-10648571

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

74
# Symbol AA change Variation ID SNP ID
1 MYH3 p.Gln1075Pro VAR_074670 rs796051884

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 11.3 MSH6 MSH2 MLH1
2
Show member pathways
11.23 PMS2 MSH6 MSH2 MLH1
3 11.06 MSH6 MSH2 MLH1 CACNA1A
4 10.39 PMS2 MSH6 MSH2 MLH1

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 nuclear matrix GO:0016363 9.5 MEN1 ATXN7 ATXN3
2 MutLalpha complex GO:0032389 9.26 PMS2 MLH1
3 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.16 SDHD SDHB
4 MutSalpha complex GO:0032301 8.96 MSH6 MSH2
5 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 17)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.93 PMS2 MSH6 MSH2 MLH1 MEN1
2 DNA repair GO:0006281 9.85 PMS2 MSH6 MSH2 MLH1 MEN1
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.65 MSH6 MSH2 MLH1
4 negative regulation of DNA recombination GO:0045910 9.57 MSH6 MSH2
5 determination of adult lifespan GO:0008340 9.56 MSH6 MSH2
6 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.55 RET NF1
7 positive regulation of isotype switching to IgG isotypes GO:0048304 9.52 MSH2 MLH1
8 positive regulation of helicase activity GO:0051096 9.51 MSH6 MSH2
9 mismatch repair GO:0006298 9.46 PMS2 MSH6 MSH2 MLH1
10 positive regulation of isotype switching to IgA isotypes GO:0048298 9.43 MSH2 MLH1
11 isotype switching GO:0045190 9.43 MSH6 MSH2 MLH1
12 maintenance of DNA repeat elements GO:0043570 9.4 MSH6 MSH2
13 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.32 MSH2 MLH1
14 pyrimidine dimer repair GO:0006290 9.19 MSH6
15 somatic recombination of immunoglobulin gene segments GO:0016447 9.13 MSH6 MSH2 MLH1
16 meiotic mismatch repair GO:0000710 9.07 MSH6
17 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 15)
# Name GO ID Score Top Affiliating Genes
1 single-stranded DNA binding GO:0003697 9.72 PMS2 MSH2 MLH1
2 calcium channel activity GO:0005262 9.71 RYR1 PKD1 CACNA1A
3 ATPase activity GO:0016887 9.65 PMS2 MSH6 MSH2 MLH1 ABCA4
4 ubiquinone binding GO:0048039 9.52 SDHD SDHB
5 oxidized purine DNA binding GO:0032357 9.49 MSH6 MSH2
6 MutSalpha complex binding GO:0032407 9.48 PMS2 MLH1
7 MutLalpha complex binding GO:0032405 9.46 MSH6 MSH2
8 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.4 SDHD SDHB
9 single thymine insertion binding GO:0032143 9.37 MSH6 MSH2
10 four-way junction DNA binding GO:0000400 9.33 MSH6 MSH2 MEN1
11 single guanine insertion binding GO:0032142 9.32 MSH6 MSH2
12 Y-form DNA binding GO:0000403 9.21 MEN1
13 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
14 mismatched DNA binding GO:0030983 8.92 PMS2 MSH6 MSH2 MLH1
15 ATP binding GO:0005524 10.03 RYR1 RET PMS2 MYH3 MSH6 MSH2

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
29 GTR
30 HGMD
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33 ICD10
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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