AMC
MCID: DST002
MIFTS: 65

Distal Arthrogryposis (AMC)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Distal Arthrogryposis

MalaCards integrated aliases for Distal Arthrogryposis:

Name: Distal Arthrogryposis 12 20 58 36 29 6 15
Arthrogryposis Multiplex Congenita 12 74 20 58 36 29 6 32
Arthrogryposis 20 54 39 17 71
Arthrogryposis Multiplex Congenita Distal 20 6
Freeman-Sheldon Syndrome 12 71
Fibrous Ankylosis of Multiple Joints 20
Congenital Multiple Arthrogryposis 20
Multiple Congenital Arthrogryposis 58
Myodystrophia Fetalis Deformans 20
Arthrogryposis, Distal, Type 2b 71
Distal Arthrogryposis Syndrome 71
Congenital Arthromyodysplasia 20
Rocher-Sheldon Syndrome 20
Arthrogryposis Syndrome 58
Arthrogryposis, Distal 39
Guerin-Stern Syndrome 20
Guérin-Stern Syndrome 20
Rossi Syndrome 20
Otto Syndrome 20
Amc 58

Characteristics:

Orphanet epidemiological data:

58
arthrogryposis multiplex congenita
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050646
ICD10 32 Q74.3
MESH via Orphanet 45 C536613 D001176
ICD10 via Orphanet 33 Q68.8 Q74.3
UMLS via Orphanet 72 C0003886 C0265213 C2931264
UMLS 71 C0003886 C0265213 C0265224 more

Summaries for Distal Arthrogryposis

GARD : 20 Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and may lead to muscle atrophy. AMC is not a specific diagnosis, but rather a physical symptom that can be associated with many different medical conditions. It is suspected that AMC is related to decreased fetal movement during development which can have a variety of different causes, including environmental factors (i.e. maternal illness, limited space), single gene changes (autosomal dominant, autosomal recessive, X-linked), chromosomal abnormalities and various syndromes. Treatment varies based on the signs and symptoms found in each person, but may include physical therapy, removable splints, exercise, and/or surgery.

MalaCards based summary : Distal Arthrogryposis, also known as arthrogryposis multiplex congenita, is related to arthrogryposis, distal, type 1a and arthrogryposis, distal, type 5, and has symptoms including seizures, muscle weakness and arthralgia. An important gene associated with Distal Arthrogryposis is PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2), and among its related pathways/superpathways are Cardiac muscle contraction and Tight junction. The drugs Everolimus and Tolvaptan have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and skeletal muscle, and related phenotypes are scoliosis and lymphedema

Disease Ontology : 12 A muscle tissue disease characterized by congenital joint contractures of hand and feet.

KEGG : 36 Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by non-progressive joint contractures from birth. There are various etiologies for AMC including genetic and environmental depends on the specific type. It has been reported that mutations in ERGIC1 cause AMC neuropathic type. ERGIC1 encodes a membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi.

Wikipedia : 74 Arthrogryposis, describes congenital joint contracture in two or more areas of the body. It derives its... more...

Related Diseases for Distal Arthrogryposis

Diseases in the Distal Arthrogryposis family:

Arthrogryposis, Distal, Type 1a Arthrogryposis, Distal, Type 5
Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 3
Arthrogryposis, Distal, Type 2e Arthrogryposis, Distal, Type 7
Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 2a
Arthrogryposis, Distal, Type 2b1 Arthrogryposis, Distal, Type 4
Arthrogryposis, Distal, Type 1b Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b2 Arthrogryposis, Distal, Type 2b3
Arthrogryposis, Distal, Type 1c

Diseases related to Distal Arthrogryposis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 599)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 1a 33.9 TPM2 TNNT3 TNNI2 PIEZO2 NALCN MYH3
2 arthrogryposis, distal, type 5 33.9 TPM2 TNNT3 TNNI2 PIEZO2 MYH3 MYBPC1
3 arthrogryposis, distal, type 5d 33.7 TNNT3 TNNI2 PIEZO2 MYH3 MYBPC1 ECEL1
4 arthrogryposis, distal, type 2a 33.6 TPM2 TNNT3 TNNI2 PIEZO2 NALCN MYH3
5 arthrogryposis, distal, type 2b1 33.6 TPM2 TNNT3 TNNI2 NALCN MYH3
6 arthrogryposis, distal, type 7 33.4 TPM2 TNNT3 TNNI2 MYH3
7 arthrogryposis, distal, type 1b 33.4 TNNT3 TNNI2 PIEZO2 MYBPC1
8 arthrogryposis, distal, type 10 33.2 TPM2 TNNT3 TNNI2 MYH3 ECEL1
9 multiple pterygium syndrome, escobar variant 33.0 TPM2 TNNT3 TNNI2 RYR1 RAPSN PIEZO2
10 multiple pterygium syndrome, lethal type 31.9 RYR1 RAPSN
11 congenital contractures 31.7 TNNT3 RYR1 NALCN ASCC1
12 myopathy 31.6 TPM2 TNNI2 RYR1 RAPSN MYOD1 MYH3
13 ptosis 31.5 RYR1 RAPSN PIEZO2 ECEL1
14 clubfoot 31.5 TPM2 TNNT3 RYR1 MYH3 MYBPC1 ECEL1
15 scoliosis 31.5 RYR1 PIEZO2 MYH3 MYBPC1 ADGRG6
16 neuromuscular disease 31.0 RYR1 RAPSN MYOD1 ASCC1 ACTA1
17 fetal akinesia deformation sequence 1 30.9 SETBP1 RYR1 RAPSN PIEZO2 NALCN MYOD1
18 batten-turner congenital myopathy 30.9 TPM2 RYR1 ACTA1
19 lethal congenital contracture syndrome 30.7 MYBPC1 CNTNAP1 ADGRG6
20 spondylocarpotarsal synostosis syndrome 30.7 TNNT3 TNNI2 MYH3
21 congenital myasthenic syndrome 30.5 TPM2 RYR1 RAPSN ACTA1
22 cap myopathy 30.2 TPM2 ACTA1
23 hydrops fetalis, nonimmune 30.0 RYR1 RAPSN
24 arthrogryposis multiplex congenita 2, neurogenic type 12.1
25 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 11.9
26 arthrogryposis multiplex congenita 5 11.8
27 arthrogryposis, distal, type 3 11.7
28 arthrogryposis, renal dysfunction, and cholestasis 1 11.7
29 arthrogryposis, distal, type 4 11.7
30 arthrogryposis, distal, type 6 11.6
31 arthrogryposis, distal, type 2b2 11.5
32 arthrogryposis, distal, type 2b3 11.5
33 contractural arachnodactyly, congenital 11.5
34 arthrogryposis, mental retardation, and seizures 11.5
35 wieacker-wolff syndrome 11.4
36 bruck syndrome 11.4
37 spinal muscular atrophy, x-linked 2 11.4
38 arthrogryposis, distal, type 1c 11.4
39 wieacker-wolff syndrome, female-restricted 11.4
40 lethal congenital contracture syndrome 8 11.4
41 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 11.4
42 spinal muscular atrophy with congenital bone fractures 1 11.4
43 spinal muscular atrophy with congenital bone fractures 2 11.4
44 glycine encephalopathy with normal serum glycine 11.4
45 arthrogryposis, perthes disease, and upward gaze palsy 11.4
46 muscular dystrophy, congenital, producing arthrogryposis 11.4
47 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 11.3
48 bruck syndrome 1 11.3
49 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 11.3
50 arthrogryposis multiplex congenita cns calcification 11.3

Graphical network of the top 20 diseases related to Distal Arthrogryposis:



Diseases related to Distal Arthrogryposis

Symptoms & Phenotypes for Distal Arthrogryposis

Human phenotypes related to Distal Arthrogryposis:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
3 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
4 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
5 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
6 talipes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001883
7 hip dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002827
8 abnormality of the gastric mucosa 58 31 hallmark (90%) Very frequent (99-80%) HP:0004295
9 congenital diaphragmatic hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000776
10 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
11 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
12 ulnar deviation of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009465
13 abnormality of the wrist 58 31 hallmark (90%) Very frequent (99-80%) HP:0003019
14 gastroschisis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001543
15 abnormal pleura morphology 31 hallmark (90%) HP:0002103
16 abnormality of the pleura 58 Very frequent (99-80%)

UMLS symptoms related to Distal Arthrogryposis:


seizures, muscle weakness, arthralgia, myalgia, ulnar deviation of the wrist, muscle cramp, metatarsalgia, muscle rigidity, muscle spasticity

GenomeRNAi Phenotypes related to Distal Arthrogryposis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.62 MYH3 PIEZO2 RAPSN
2 Decreased viability GR00249-S 9.62 ECEL1 MYH3 PIEZO2 RAPSN RYR1 TNNI2
3 Decreased viability GR00381-A-1 9.62 MYH3 PIEZO2
4 Decreased viability GR00386-A-1 9.62 CNTNAP1 NALCN
5 Decreased viability GR00402-S-2 9.62 CNTNAP1 MYBPC1 MYLPF NALCN PIEZO2 RAPSN

MGI Mouse Phenotypes related to Distal Arthrogryposis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.93 ACTA1 ADGRG6 ASCC1 ASPM CNTNAP1 MYLPF
2 mortality/aging MP:0010768 9.8 ACTA1 ADGRG6 ASCC1 CNTNAP1 ECEL1 MYLPF
3 muscle MP:0005369 9.28 ACTA1 ADGRG6 CNTNAP1 ECEL1 MYLPF MYOD1

Drugs & Therapeutics for Distal Arthrogryposis

Drugs for Distal Arthrogryposis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
2
Tolvaptan Approved Phase 4 150683-30-0 216237
3 Hormones Phase 4
4 Arginine Vasopressin Phase 4
5 Vasopressins Phase 4
6
Somatostatin Approved, Investigational Phase 3 51110-01-1, 38916-34-6 53481605
7
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
8
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
9
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
10
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030
11
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
12
tannic acid Approved Phase 2, Phase 3 1401-55-4
13 Triptolide Investigational Phase 3 38748-32-2
14 Contraceptive Agents Phase 3
15 Contraceptive Agents, Male Phase 3
16 Alkylating Agents Phase 3
17 Calcineurin Inhibitors Phase 3
18 Antineoplastic Agents, Hormonal Phase 3
19 Gastrointestinal Agents Phase 3
20 Antibiotics, Antitubercular Phase 2, Phase 3
21 Immunosuppressive Agents Phase 2, Phase 3
22 Anti-Bacterial Agents Phase 2, Phase 3
23 Immunologic Factors Phase 2, Phase 3
24 Antifungal Agents Phase 2, Phase 3
25 Anti-Infective Agents Phase 2, Phase 3
26 Antihypertensive Agents Phase 2, Phase 3
27
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
28
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
29
Metformin Approved Phase 2 657-24-9 14219 4091
30
Pasireotide Approved Phase 2 396091-73-9 9941444
31
Pravastatin Approved Phase 2 81093-37-0 54687
32
Sodium citrate Approved, Investigational Phase 2 68-04-2
33
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
34
Cilnidipine Investigational Phase 2 132203-70-4 5282138
35
Imidapril Investigational Phase 2 89371-37-9 5464343
36
Candesartan Experimental Phase 2 139481-59-7 2541
37 Angiotensin-Converting Enzyme Inhibitors Phase 2
38 Angiotensinogen Phase 2
39 Giapreza Phase 2
40 Angiotensin Receptor Antagonists Phase 2
41 HIV Protease Inhibitors Phase 2
42
protease inhibitors Phase 2
43 calcium channel blockers Phase 2
44 Hypoglycemic Agents Phase 2
45 Liver Extracts Phase 2
46 Hormone Antagonists Phase 2
47 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
48 Lipid Regulating Agents Phase 2
49 Hypolipidemic Agents Phase 2
50 Antimetabolites Phase 2

Interventional clinical trials:

(show top 50) (show all 70)
# Name Status NCT ID Phase Drugs
1 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Unknown status NCT03596957 Phase 4 Tolvaptan
2 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
3 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Active, not recruiting NCT03949894 Phase 4 Tolvaptan
4 Randomized Controlled Trial of Triptolide-Containing Formulation for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
5 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Unknown status NCT02055079 Phase 3 Sirolimus;Placebo
6 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
7 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
8 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 A Phase 3b, Two-part, Multicenter, One Year Randomized, Double-blind, Placebo-controlled Trial of the Safety, Pharmacokinetics, Tolerability, and Efficacy of Tolvaptan Followed by a Two Year Open-label Extension in Children and Adolescent Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Active, not recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
18 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
19 Rapamycin as Treatment for ADPKD: The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
20 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
21 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
22 Effects of Power Mobility on the Development and Function of Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
23 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Completed NCT02656017 Phase 2 Metformin
24 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
25 A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind, Placebo-masked, Parallel-group Pilot Trial to Compare the Efficacy, Tolerability, and Safety of Tolvaptan Modified-release and Immediate-release Formulations in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
26 A Phase 2a, Single-center Study Investigating the Short-term Renal Hemodynamic Effects, Safety and Pharmacokinetics/ Pharmacodynamics of Oral Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease at Various Stages of Renal Function Completed NCT01336972 Phase 2 Tolvaptan
27 A Phase 2, Open-Label, Multi-Center Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT03487913 Phase 2 Lixivaptan
28 A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study Of The Safety, Clinical Activity And Pharmacokinetics Of Bosutinib (PF-05208763) Versus Placebo In Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo
29 A Phase 1b/2a, Safety, Pharmacokinetic and Dose-Escalation Study of KD019 ((Tesevatinib) in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01559363 Phase 1, Phase 2 KD019 (tesevatinib)
30 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Study 156-04-001] Completed NCT00841568 Phase 2 OPC-41061
31 A Randomized, Placebo Controlled Clinical Trial of SOM230 (Pasireotide LAR) In Severe Polycystic Liver Disease Completed NCT01670110 Phase 2 Pasireotide LAR;Placebo
32 Open-label Dose Escalation Study Evaluating the Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of Intravenous NPSP795 in Autosomal Dominant Hypocalcemia Due to Mutations in the Calcium-sensing Receptor Gene: A Drug Repurposing Study Completed NCT02204579 Phase 2 NPSP795
33 A Phase IIb, Open-label Dose-ranging Study Evaluating the Safety, Tolerability, Pharmacodynamics and Pharmacokinetics, and Efficacy of CLTX-305 in Autosomal Dominant Hypocalcemia (ADH) Type 1 Recruiting NCT04581629 Phase 2 CLTX-305
34 An Exploratory, Randomized, Double-blind, Placebo-controlled, Multicenter Study to Evaluate the Efficacy, Safety, Tolerability and Pharmacokinetics of Orally Administered GLPG2737 for 52 Weeks, in Subjects With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT04578548 Phase 2 GLPG2737;Placebo
35 Pravastatin and Alkali Therapy in Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT04284657 Phase 2 Pravastatin;sodium citrate
36 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene Recruiting NCT04123626 Phase 1, Phase 2 QR-1123
37 A Double-blind Randomized Parallel Group Study of the Efficacy and Safety of Tesevatinib in Subjects With Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT03203642 Phase 2 Tesevatinib;Placebo
38 A Phase 1b, Multicenter, Open-Label, Adaptive Design Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of RGLS4326 Administered Via SC Injection to Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT04536688 Phase 1 RGLS4326
39 Characterization of Patients With Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism Unknown status NCT02551120
40 Cross Sectional Study of Autosomal Dominant Opticus Atrophy Unknown status NCT01522638
41 WREX Outcome Study Unknown status NCT02218593
42 The Effect of High and Low Sodium Intake on Urinary Aquaporin-2 in Autosomal Dominant Polycystic Kidney Disease, During Basal Conditions and After Hypertonic Saline Infusion. Completed NCT00410007
43 A New Diet for Patients With Autosomal Dominant Polycystic Disease (ADPKD) Completed NCT01810614
44 The Kidneys Ability to Concentrate and Dilute Urine in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) or Other Cause of Chronic Renal Disease Compared to Healthy Volunteers Completed NCT04363554
45 A Multi-center, Longitudinal, Observational Study of Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) to Establish the Rate, Characteristics, and Determinants of Disease Progression Completed NCT01430494
46 Evaluation and Treatment of Chronic Pain in Autosomal Dominant Polycystic Kidney Disease Completed NCT00571909
47 Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes Completed NCT01235624
48 Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in Autosomal Dominant Polycystic Kidney Disease (ADPKD): The GeneQuest Study Completed NCT02112136
49 Assessment of Adrenal Functions in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT00598377 Tetracosactin
50 Pilot Study of RNA as a Biomarker for Autosomal Dominant Polycystic Kidney Disease Completed NCT01114594

Search NIH Clinical Center for Distal Arthrogryposis

Genetic Tests for Distal Arthrogryposis

Genetic tests related to Distal Arthrogryposis:

# Genetic test Affiliating Genes
1 Arthrogryposis Multiplex Congenita 29
2 Distal Arthrogryposis 29

Anatomical Context for Distal Arthrogryposis

MalaCards organs/tissues related to Distal Arthrogryposis:

40
Kidney, Liver, Skeletal Muscle, Brain, Skin, Bone, Spleen

Publications for Distal Arthrogryposis

Articles related to Distal Arthrogryposis:

(show top 50) (show all 904)
# Title Authors PMID Year
1
Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. 54 61
19142688 2009
2
New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations. 54 61
19047562 2008
3
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy. 61
33547725 2021
4
Amyoplasia and distal arthrogryposis. 61
33321243 2021
5
Arthrogryposis multiplex congenita and limitation of mouth opening: Presentation of a case and review of the literature. 61
32450320 2021
6
Growth-Friendly Spine Surgery in Arthrogryposis Multiplex Congenita. 61
33475309 2021
7
Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene. 61
33491998 2021
8
Assistive and Rehabilitative Effects of the Playskin LiftTM Exoskeletal Garment on Reaching and Object Exploration in Children With Arthrogryposis. 61
33399059 2021
9
A rare association of type 2 Duanes retraction syndrome with arthrogryposis multiplex congenita. 61
33480805 2021
10
Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome. 61
33369052 2020
11
Conservative Treatment of Unicuspid Aortic Valve with Newly Diagnosed Type A Aortic Dissection. 61
33306327 2020
12
One-Stage Extension Shortening Osteotomy for Syndromic Camptodactyly. 61
33233749 2020
13
MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin. 61
33016623 2020
14
Bipolar Latissimus Dorsi Transfer for Arthrogryposis Multiplex Congenita: Minimum 10-Month Follow-Up. 61
32616410 2020
15
Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism. 61
33179433 2020
16
Talectomy by Medial Surgical Approach for Congenital Vertical Talus in Arthrogryposis Multiplex Congenita. 61
32818283 2020
17
Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A). 61
32767732 2020
18
Single-Stage Correction of Severe Rigid Ankle Equinus Deformity by Talectomy and Tibiocalcaneal Fusion in Adulthood: A Case Report. 61
33585314 2020
19
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence. 61
32812332 2020
20
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. 61
33060286 2020
21
Total joint replacement of the hip and knee in patients with arthrogryposis multiplex congenita: a report of six joints. 61
33040207 2020
22
Distal Arthrogryposis: A Clue to the Etiology of Neonatal Cholestasis. 61
32239418 2020
23
Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita. 61
33090266 2020
24
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy. 61
33558124 2020
25
A 63-bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita. 61
32686171 2020
26
Associated anomalies in cases with congenital clubfoot. 61
32592281 2020
27
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes. 61
32928894 2020
28
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant. 61
33419998 2020
29
Patient-reported Outcomes in Arthrogryposis. 61
32040062 2020
30
Bone densities and bone geometry in children and adolescents with arthrogryposis. 61
32464275 2020
31
Rehabilitation needs of youth with arthrogryposis multiplex congenita: Perspectives from key stakeholders. 61
30741031 2020
32
Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism. 61
32799913 2020
33
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. 61
32707087 2020
34
Arthrogryposis Multiplex Congenita. 61
32674167 2020
35
Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome. 61
32149971 2020
36
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders. 61
32092148 2020
37
A Telerehabilitation Intervention for Youths With Arthrogryposis Multiplex Congenita: Protocol for a Pilot Study. 61
32589157 2020
38
Arthrogryposis is a descriptive term, not a specific disease entity: escobar syndrome is an Example. 61
32536119 2020
39
Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency. 61
32392656 2020
40
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans. 61
31960134 2020
41
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6. 61
31846058 2020
42
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. 61
31880396 2020
43
A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability. 61
31513940 2020
44
Early open reduction of dislocated hips using a modified Smith-Petersen approach in arthrogyposis multiplex congenita. 61
32131798 2020
45
Orthopaedic care of the child with arthrogryposis: a 2020 overview. 61
31743218 2020
46
50 Years Ago in TheJournalofPediatrics: Arthrogryposis Multiplex Congenita: A Clinical Investigation. 61
32040413 2020
47
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. 61
31660661 2020
48
Participation among Children with Arthrogryposis Multiplex Congenita: A Scoping Review. 61
32299279 2020
49
Tension band plate-guided growth of knee-flexion deformity in arthrogryposis multiplex congenita in which metaphyseal funnelization induced screw encroachment upon the neurovascular bundle. 61
31305362 2020
50
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant. 61
33062288 2020

Variations for Distal Arthrogryposis

ClinVar genetic disease variations for Distal Arthrogryposis:

6 (show top 50) (show all 187)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.2(RYR1):c.10620C>G (p.Tyr3540Ter) SNV Pathogenic 433177 rs758247804 19:39016136-39016136 19:38525496-38525496
2 CNTNAP1 NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter) SNV Pathogenic 692274 rs1597802927 17:40835840-40835840 17:42683822-42683822
3 RYR1 NM_000540.3(RYR1):c.14647-15_14649del Deletion Pathogenic 692285 rs1599673988 19:39075562-39075579 19:38584922-38584939
4 RYR1 NM_000540.3(RYR1):c.5618del (p.Glu1873fs) Deletion Pathogenic 692288 rs1600783776 19:38979887-38979887 19:38489247-38489247
5 ADSS1 NM_152328.4(ADSS1):c.741del (p.Lys248fs) Deletion Pathogenic 692295 rs769542442 14:105207522-105207522 14:104741185-104741185
6 RYR1 NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs) Duplication Pathogenic 692286 rs1568454672 19:38951153-38951154 19:38460513-38460514
7 RAPSN NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) SNV Pathogenic 497298 rs375218091 11:47469623-47469623 11:47448071-47448071
8 ADGRG6 NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter) SNV Pathogenic 192347 rs749355583 6:142630697-142630697 6:142309560-142309560
9 ADGRG6 NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs) Duplication Pathogenic 192348 rs793888524 6:142726839-142726840 6:142405702-142405703
10 PIEZO2 NM_022068.3(PIEZO2):c.8175_8177AGA[2] (p.Glu2727del) Microsatellite Pathogenic 235839 rs1555621138 18:10671600-10671602 18:10671603-10671605
11 TNNI2 NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter) SNV Pathogenic 12436 rs104894312 11:1862698-1862698 11:1841468-1841468
12 PIEZO2 NM_022068.3(PIEZO2):c.1384C>T (p.Arg462Ter) SNV Pathogenic 632546 rs1568069621 18:10797515-10797515 18:10797517-10797517
13 PIEZO2 NM_022068.3(PIEZO2):c.8057G>A (p.Arg2686His) SNV Pathogenic 137629 rs587777450 18:10671726-10671726 18:10671729-10671729
14 RYR1 NM_001042723.2(RYR1):c.9579C>G (p.Cys3193Trp) SNV Pathogenic 159864 rs587784379 19:39006751-39006751 19:38516111-38516111
15 ACTA1 NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg) SNV Pathogenic 692271 rs1057521117 1:229567810-229567810 1:229432063-229432063
16 ASCC1 NM_001198800.3(ASCC1):c.626+1G>A SNV Pathogenic 619021 rs747595523 10:73921295-73921295 10:72161537-72161537
17 ASPM NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) SNV Pathogenic 692298 rs774338373 1:197097693-197097693 1:197128563-197128563
18 MYOD1 NM_002478.5(MYOD1):c.557dup (p.Arg188fs) Duplication Pathogenic 631486 rs1179926739 11:17741881-17741882 11:17720334-17720335
19 SETBP1 NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) SNV Pathogenic 1031 rs267607038 18:42531917-42531917 18:44951952-44951952
20 ADGRG6 NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu) SNV Pathogenic 192349 rs793888525 6:142729324-142729324 6:142408187-142408187
21 USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs) Deletion Pathogenic 2351 rs80338903 1:216420437-216420437 1:216247095-216247095
22 RYR1 NM_001042723.2(RYR1):c.4405C>T (p.Arg1469Trp) SNV Likely pathogenic 161372 rs200546266 19:38968461-38968461 19:38477821-38477821
23 MYH3 NM_002470.4(MYH3):c.2512A>C (p.Lys838Gln) SNV Likely pathogenic 995417 17:10543483-10543483 17:10640166-10640166
24 SCN5A NM_198056.2(SCN5A):c.5213C>T (p.Ser1738Phe) SNV Likely pathogenic 191499 rs786205271 3:38592650-38592650 3:38551159-38551159
25 LOC112441444 NM_013292.5(MYLPF):c.470G>T (p.Cys157Phe) SNV Likely pathogenic 916685 16:30389181-30389181 16:30377860-30377860
26 LOC112441444 NM_013292.5(MYLPF):c.469T>C (p.Cys157Arg) SNV Likely pathogenic 916686 16:30389180-30389180 16:30377859-30377859
27 LOC112441444 NM_013292.5(MYLPF):c.487G>A (p.Gly163Ser) SNV Likely pathogenic 916687 16:30389198-30389198 16:30377877-30377877
28 MYLPF NM_013292.5(MYLPF):c.98C>T (p.Ala33Val) SNV Likely pathogenic 916688 16:30387467-30387467 16:30376146-30376146
29 KIAA1109 NM_001384125.1(KIAA1109):c.3323+1G>A SNV Likely pathogenic 978640 4:123151367-123151367 4:122230212-122230212
30 KIAA1109 NM_001384125.1(KIAA1109):c.692del (p.Phe231fs) Deletion Likely pathogenic 978675 4:123109112-123109112 4:122187957-122187957
31 ASPM NM_018136.5(ASPM):c.3082+1G>C SNV Likely pathogenic 280518 rs886041709 1:197094175-197094175 1:197125045-197125045
32 CHRNG NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys) Indel Likely pathogenic 692272 rs1574645121 2:233407697-233407698 2:232542987-232542988
33 ASAH1 NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn) SNV Likely pathogenic 692296 rs200758704 8:17933087-17933087 8:18075578-18075578
34 FZD3 NM_017412.4(FZD3):c.1616dup (p.Asp539fs) Duplication Likely pathogenic 632606 rs1563406024 8:28413316-28413317 8:28555799-28555800
35 KLHL7 NM_001031710.3(KLHL7):c.618+1G>A SNV Likely pathogenic 487514 rs1554289078 7:23180564-23180564 7:23140945-23140945
36 SEPSECS NM_016955.4(SEPSECS):c.388+5G>A SNV Likely pathogenic 374085 rs1057518887 4:25158473-25158473 4:25156851-25156851
37 MYH3 NM_002470.4(MYH3):c.1504T>G (p.Tyr502Asp) SNV Likely pathogenic 211550 rs797045727 17:10546220-10546220 17:10642903-10642903
38 RYR1 NM_000540.2(RYR1):c.1990G>C (p.Glu664Gln) SNV Likely pathogenic 523378 rs1555769818 19:38948755-38948755 19:38458115-38458115
39 RYR1 NM_000540.2(RYR1):c.9850T>C (p.Trp3284Arg) SNV Likely pathogenic 523379 rs1555788577 19:39008163-39008163 19:38517523-38517523
40 MYBPC1 NM_002465.4(MYBPC1):c.1678G>C (p.Val560Leu) SNV Likely pathogenic 523451 rs1555242493 12:102046937-102046937 12:101653159-101653159
41 BICD2 NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) Deletion Likely pathogenic 422408 rs1064795760 9:95481289-95481291 9:92719007-92719009
42 ROR2 NM_004560.4(ROR2):c.808A>G (p.Ile270Val) SNV Likely pathogenic 498455 rs145631389 9:94495533-94495533 9:91733251-91733251
43 ROR2 NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) SNV Likely pathogenic 596726 rs117134265 9:94487101-94487101 9:91724819-91724819
44 ATP2B3 NM_001001344.2(ATP2B3):c.197C>T (p.Ser66Leu) SNV Likely pathogenic 692299 rs1603040061 X:152801902-152801902 X:153536444-153536444
45 SCN8A NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr) SNV Likely pathogenic 692305 rs1592387849 12:52093366-52093366 12:51699582-51699582
46 KIAA1109 NM_015312.3(KIAA1109):c.3926G>A (p.Arg1309Gln) SNV Likely pathogenic 692318 rs1460624416 4:123160763-123160763 4:122239608-122239608
47 KIAA1109 NM_015312.3(KIAA1109):c.11890T>C (p.Tyr3964His) SNV Likely pathogenic 692319 rs777407076 4:123257388-123257388 4:122336233-122336233
48 GBE1 NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) SNV Likely pathogenic 425301 rs552094593 3:81586172-81586172 3:81537021-81537021
49 ATP1A2 NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) Deletion Likely pathogenic 562228 rs1558008455 1:160105074-160105075 1:160135284-160135285
50 ATP1A2 NM_000702.4(ATP1A2):c.835del (p.Arg279fs) Deletion Likely pathogenic 586989 rs1558005340 1:160097428-160097428 1:160127638-160127638

Expression for Distal Arthrogryposis

Search GEO for disease gene expression data for Distal Arthrogryposis.

Pathways for Distal Arthrogryposis

Pathways related to Distal Arthrogryposis according to KEGG:

36
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260
2 Tight junction hsa04530

GO Terms for Distal Arthrogryposis

Cellular components related to Distal Arthrogryposis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin filament GO:0032982 9.26 MYH3 MYBPC1
2 muscle myosin complex GO:0005859 9.16 MYLPF MYH3
3 troponin complex GO:0005861 8.96 TNNT3 TNNI2
4 myofibril GO:0030016 8.8 MYOD1 MYH3 MYBPC1

Biological processes related to Distal Arthrogryposis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.5 TPM2 TNNT3 TNNI2 RYR1 MYLPF MYBPC1
2 myelination in peripheral nervous system GO:0022011 9.43 CNTNAP1 ADGRG6
3 skeletal muscle contraction GO:0003009 9.43 TNNT3 TNNI2 MYH3
4 regulation of muscle contraction GO:0006937 9.4 TNNT3 TNNI2
5 regulation of ATPase activity GO:0043462 9.37 TPM2 TNNT3
6 skeletal muscle fiber development GO:0048741 9.33 RYR1 MYOD1 ACTA1
7 skeletal muscle fiber adaptation GO:0043503 9.32 MYOD1 ACTA1
8 muscle filament sliding GO:0030049 9.1 TPM2 TNNT3 TNNI2 MYH3 MYBPC1 ACTA1

Molecular functions related to Distal Arthrogryposis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.55 TPM2 TNNT3 TNNI2 MYH3 MYBPC1
2 structural constituent of muscle GO:0008307 9.13 TPM2 MYLPF MYBPC1
3 myosin binding GO:0017022 8.8 USH2A MYBPC1 ACTA1

Sources for Distal Arthrogryposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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