AMC
MCID: DST002
MIFTS: 63

Distal Arthrogryposis (AMC)

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

Aliases & Classifications for Distal Arthrogryposis

MalaCards integrated aliases for Distal Arthrogryposis:

Name: Distal Arthrogryposis 12 52 58 36 29 6 15
Arthrogryposis Multiplex Congenita 12 74 52 58
Arthrogryposis 52 54 71
Arthrogryposis Multiplex Congenita Distal 52 6
Freeman-Sheldon Syndrome 12 71
Fibrous Ankylosis of Multiple Joints 52
Congenital Multiple Arthrogryposis 52
Multiple Congenital Arthrogryposis 58
Myodystrophia Fetalis Deformans 52
Arthrogryposis, Distal, Type 2b 71
Distal Arthrogryposis Syndrome 71
Congenital Arthromyodysplasia 52
Rocher-Sheldon Syndrome 52
Arthrogryposis Syndrome 58
Arthrogryposis, Distal 39
Guerin-Stern Syndrome 52
Guérin-Stern Syndrome 52
Rossi Syndrome 52
Otto Syndrome 52
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
KEGG 36 H00811
MESH via Orphanet 44 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

NIH Rare Diseases : 52 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 TNNI2 (Troponin I2, Fast Skeletal Type), and among its related pathways/superpathways are Cardiac muscle contraction and Tight junction. The drugs Everolimus and Somatostatin 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 Distal arthrogryposis (DA) are a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often are associated with abnormal facies. To date, 10 different DA syndromes have been characterized and classified. DA2A and DA2B are also referred to as Freeman-Sheldon syndrome and Sheldon-Hall syndrome, respectively. The most of causative genes have implicated proteins of the contractile apparatus of the fast-twitch myofibers.

Wikipedia : 74 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... 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

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

(show top 50) (show all 566)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 1a 35.3 TPM2 TNNT3 TNNI2 RYR1 PIEZO2 MYOD1
2 arthrogryposis, distal, type 5 35.3 TPM2 TNNT3 TNNI2 TNNC2 PIEZO2 MYH8
3 arthrogryposis, distal, type 5d 35.1 TNNT3 TNNI2 PIEZO2 MYH3 MYBPC1 ECEL1
4 arthrogryposis, distal, type 2a 35.0 TPM2 TNNT3 TNNI2 PIEZO2 MYH8 MYH6
5 arthrogryposis, distal, type 2b1 34.9 TPM2 TNNT3 TNNI2 MYH3
6 arthrogryposis, distal, type 1b 34.7 TNNT3 TNNI2 PIEZO2 MYBPC1
7 arthrogryposis, distal, type 10 34.6 TPM2 TNNT3 TNNI2 MYH3 MYBPC1 ECEL1
8 arthrogryposis, distal, type 7 34.5 TPM2 TNNT3 TNNI2 MYH8 MYH3
9 multiple pterygium syndrome, escobar variant 34.1 TPM2 TNNT3 TNNI2 RYR1 PIEZO2 MYH8
10 digitotalar dysmorphism 33.7 TPM2 TNNT3 TNNI2 MYH3 MYBPC1
11 myopathy 32.0 TPM2 TNNI2 RYR1 PIEZO2 MYOD1 MYH6
12 congenital contractures 32.0 TNNT3 RYR1 ASCC1
13 clubfoot 31.9 TPM2 TNNT3 TNNI2 RYR1 MYH8 MYH3
14 scoliosis 31.6 RYR1 PIEZO2 MYH3 MYBPC1 ADGRG6
15 lethal congenital contracture syndrome 31.4 MYBPC1 CNTNAP1 ADGRG6
16 myopathy, congenital 31.2 RYR1 MYH6 MYBPC1 ACTA1
17 neuromuscular disease 31.2 RYR1 MYOD1 MYH6 ASCC1 ACTA1
18 fetal akinesia deformation sequence 1 31.1 RYR1 PIEZO2 MYOD1 CNTNAP1 ASPM ASCC1
19 centronuclear myopathy 31.1 TPM2 RYR1 ACTA1
20 chronic pain 31.0 USH2A MYH8
21 dilated cardiomyopathy 31.0 TPM2 TNNI2 TNNC2 MYH6 MYBPC2 MYBPC1
22 hypertrophic cardiomyopathy 30.8 TPM2 MYH6 MYBPC2 MYBPC1 ACTA1
23 cap myopathy 30.6 TPM2 ACTA1
24 arthrogryposis multiplex congenita, neurogenic type 13.2
25 arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum 12.9
26 arthrogryposis, mental retardation, and seizures 12.6
27 arthrogryposis multiplex congenita cns calcification 12.5
28 antenatal multiminicore disease with arthrogryposis multiplex congenita 12.5
29 mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 12.5
30 arthrogryposis, perthes disease, and upward gaze palsy 12.5
31 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 12.5
32 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.5
33 arthrogryposis, renal dysfunction, and cholestasis 1 12.4
34 arthrogryposis, distal, type 3 12.4
35 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 12.4
36 pelvic hypoplasia with lower-limb arthrogryposis 12.4
37 arthrogryposis, distal, type 4 12.3
38 malignant hyperthermia arthrogryposis torticollis 12.3
39 arthrogryposis with hyperkeratosis 12.3
40 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.3
41 arthrogryposis and ectodermal dysplasia 12.3
42 arthrogryposis, congenital, lower limb, x-linked 12.3
43 distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies 12.3
44 neuropathy, congenital, with arthrogryposis multiplex 12.2
45 arthrogryposis, distal, type 2b2 12.2
46 arthrogryposis multiplex with deafness, inguinal hernias, and early death 12.2
47 arthrogryposis, distal, type 2b3 12.2
48 spondylohypoplasia, arthrogryposis and popliteal pterygium 12.1
49 arthrogryposis, distal, type 2e 12.1
50 arthrogryposis, distal, type 6 12.1

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 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 Very frequent (99-80%)
2 lymphedema 58 Very frequent (99-80%)
3 abnormality of the pleura 58 Very frequent (99-80%)
4 depressed nasal ridge 58 Very frequent (99-80%)
5 low-set, posteriorly rotated ears 58 Very frequent (99-80%)
6 polyhydramnios 58 Very frequent (99-80%)
7 talipes 58 Very frequent (99-80%)
8 hip dislocation 58 Very frequent (99-80%)
9 abnormality of the gastric mucosa 58 Very frequent (99-80%)
10 congenital diaphragmatic hernia 58 Very frequent (99-80%)
11 aplasia/hypoplasia of the lungs 58 Very frequent (99-80%)
12 arthrogryposis multiplex congenita 58 Very frequent (99-80%)
13 ulnar deviation of finger 58 Very frequent (99-80%)
14 abnormality of the wrist 58 Very frequent (99-80%)
15 gastroschisis 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 9.53 MYH3 PIEZO2
2 Decreased viability GR00249-S 9.53 ECEL1 MYH3 PIEZO2 RYR1 TNNI2
3 Decreased viability GR00381-A-1 9.53 MYBPC2 MYH3 PIEZO2
4 Decreased viability GR00386-A-1 9.53 CNTNAP1 MYH6
5 Decreased viability GR00402-S-2 9.53 CNTNAP1 MYBPC1 PIEZO2 TPM2

MGI Mouse Phenotypes related to Distal Arthrogryposis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 ACTA1 ADGRG6 CNTNAP1 ECEL1 MYH6 MYOD1

Drugs & Therapeutics for Distal Arthrogryposis

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

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
2
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
3
Pravastatin Approved Phase 3 81093-37-0 54687
4
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
5
Tolvaptan Approved Phase 3 150683-30-0 216237
6
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
7
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
8
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
9
tannic acid Approved Phase 2, Phase 3 1401-55-4
10
Benzocaine Approved, Investigational Phase 2, Phase 3 94-09-7, 1994-09-7 2337
11 Triptolide Investigational Phase 3 38748-32-2
12 Contraceptive Agents, Male Phase 3
13 Alkylating Agents Phase 3
14 Contraceptive Agents Phase 3
15 Calcineurin Inhibitors Phase 3
16 Hypolipidemic Agents Phase 3
17 Lipid Regulating Agents Phase 3
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
19 Anticholesteremic Agents Phase 3
20 Antimetabolites Phase 3
21 Antineoplastic Agents, Hormonal Phase 3
22 Pharmaceutical Solutions Phase 3
23 Gastrointestinal Agents Phase 3
24 Hormones Phase 3
25 Vasopressins Phase 3
26 Arginine Vasopressin Phase 3
27 Immunosuppressive Agents Phase 2, Phase 3
28 Immunologic Factors Phase 2, Phase 3
29 Anti-Bacterial Agents Phase 2, Phase 3
30 Antibiotics, Antitubercular Phase 2, Phase 3
31 Anti-Infective Agents Phase 2, Phase 3
32 Antifungal Agents Phase 2, Phase 3
33 Antihypertensive Agents Phase 2, Phase 3
34
Angiotensin II Approved, Investigational Phase 2 4474-91-3, 11128-99-7, 68521-88-0 172198
35
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
36
Pasireotide Approved Phase 2 396091-73-9 9941444
37
Sodium citrate Approved, Investigational Phase 2 68-04-2
38
Metformin Approved Phase 2 657-24-9 14219 4091
39
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
40
Cilnidipine Investigational Phase 2 132203-70-4 5282138
41
Imidapril Investigational Phase 2 89371-37-9 5464343
42
Candesartan Experimental Phase 2 139481-59-7 2541
43 Angiotensinogen Phase 2
44 Angiotensin Receptor Antagonists Phase 2
45 Angiotensin-Converting Enzyme Inhibitors Phase 2
46 Giapreza Phase 2
47 HIV Protease Inhibitors Phase 2
48
protease inhibitors Phase 2
49 calcium channel blockers Phase 2
50 Hormone Antagonists Phase 2

Interventional clinical trials:

(show top 50) (show all 65)
# Name Status NCT ID Phase Drugs
1 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
2 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Recruiting NCT03949894 Phase 4 Tolvaptan
3 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 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 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
6 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
7 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
8 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
9 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
10 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
11 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
12 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
13 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
14 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
15 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
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 Rapamycin as Treatment for ADPKD: The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
19 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
20 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
21 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
22 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
23 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
24 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
25 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
26 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
27 Effects of Power Mobility on the Development and Function of Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
28 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
29 A Randomized, Placebo Controlled Clinical Trial of SOM230 (Pasireotide LAR) In Severe Polycystic Liver Disease Completed NCT01670110 Phase 2 Pasireotide LAR;Placebo
30 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
31 Pravastatin and Alkali Therapy in Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT04284657 Phase 2 Pravastatin;sodium citrate
32 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
33 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
34 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02656017 Phase 2 Metformin
35 Cross Sectional Study of Autosomal Dominant Opticus Atrophy Unknown status NCT01522638
36 WREX Outcome Study Unknown status NCT02218593
37 Efficacy Study of Long-term Water Intake on the Progression of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Completed NCT01348035
38 Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes Completed NCT01235624
39 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
40 Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease Completed NCT02322385
41 Pilot and Feasibility Study: Evaluation of New Quantitative Magnetic Resonance Imaging Parameters in Assessing the Kidneys of Autosomal Dominant Polycystic Kidney Disease Completed NCT02250287
42 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Completed NCT02233322
43 An Innovative Device for Intervention in Infants With Nervous System Injury Completed NCT01959581
44 Assessment of Adrenal Functions in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT00598377 Tetracosactin
45 A New Diet for Patients With Autosomal Dominant Polycystic Disease (ADPKD) Completed NCT01810614
46 Water as Therapy in Autosomal Dominant Polycystic Kidney Disease Completed NCT00759369
47 Pilot Study of RNA as a Biomarker for Autosomal Dominant Polycystic Kidney Disease Completed NCT01114594
48 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
49 Evaluation and Treatment of Chronic Pain in Autosomal Dominant Polycystic Kidney Disease Completed NCT00571909
50 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

Search NIH Clinical Center for Distal Arthrogryposis

Genetic Tests for Distal Arthrogryposis

Genetic tests related to Distal Arthrogryposis:

# Genetic test Affiliating Genes
1 Distal Arthrogryposis 29

Anatomical Context for Distal Arthrogryposis

MalaCards organs/tissues related to Distal Arthrogryposis:

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

Publications for Distal Arthrogryposis

Articles related to Distal Arthrogryposis:

(show top 50) (show all 866)
# Title Authors PMID Year
1
Arthrogryposis is a descriptive term, not a specific disease entity: escobar syndrome is an Example. 61
32536119 2020
2
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders. 61
32092148 2020
3
Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome. 61
32149971 2020
4
Bone densities and bone geometry in children and adolescents with arthrogryposis. 61
32464275 2020
5
Arthrogryposis Multiplex Congenita and limitation of mouth opening: presentation of a case and review of the literature. 61
32450320 2020
6
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6. 61
31846058 2020
7
Participation among Children with Arthrogryposis Multiplex Congenita: A Scoping Review. 61
32299279 2020
8
Distal Arthrogryposis: A Clue to the Etiology of Neonatal Cholestasis. 61
32239418 2020
9
Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency. 61
32392656 2020
10
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans. 61
31960134 2020
11
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. 61
31880396 2020
12
Early open reduction of dislocated hips using a modified Smith-Petersen approach in arthrogyposis multiplex congenita. 61
32131798 2020
13
A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability. 61
31513940 2020
14
50 Years Ago in TheJournalofPediatrics: Arthrogryposis Multiplex Congenita: A Clinical Investigation. 61
32040413 2020
15
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. 61
31660661 2020
16
Orthopaedic care of the child with arthrogryposis: a 2020 overview. 61
31743218 2020
17
Patient-reported Outcomes in Arthrogryposis. 61
32040062 2020
18
The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D. 61
32566668 2020
19
Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A. 61
32117035 2020
20
Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B. 61
31746383 2020
21
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
22
Posterior Elbow Capsulotomy and Triceps Lengthening for Elbow Extension Contracture in Children with Arthrogryposis Multiplex Congenita. 61
32368405 2020
23
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. 61
31206972 2019
24
One-stage release by double surgical approach for neglected congenital vertical talus: results in a series of walking children in Tanzania. 61
31356505 2019
25
Nerve transfer from the median to musculocutaneous nerve to induce active elbow flexion in selected cases of arthrogryposis multiplex congenita. 61
30891796 2019
26
Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper. 61
31099966 2019
27
Play with objects in children with arthrogryposis: Effects of intervention with the Playskin Lift™ exoskeletal garment. 61
31232529 2019
28
The relationship between joint surgery and quality of life in adults with arthrogryposis: An international study. 61
31260181 2019
29
International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita. 61
31282072 2019
30
Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review. 61
31347265 2019
31
Muscle and joint function in children living with arthrogryposis multiplex congenita: A scoping review. 61
31350946 2019
32
Perspectives on gait and motion analysis in the management of youth with arthrogryposis multiplex congenita. 61
31359604 2019
33
Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry. 61
31359631 2019
34
Arthrogryposis multiplex congenita definition: Update using an international consensus-based approach. 61
31452331 2019
35
Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care. 61
31410997 2019
36
The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature. 61
31368648 2019
37
Summary of the 3rd international symposium on arthrogryposis. 61
31120641 2019
38
Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management. 61
31318155 2019
39
Gene ontology analysis of arthrogryposis (multiple congenital contractures). 61
31369690 2019
40
A standardized autopsy protocol for arthrogryposis (multiple congenital contractures). 61
31373772 2019
41
Rehabilitation across the lifespan for individuals with arthrogryposis. 61
31397084 2019
42
Collaborating to advance interdisciplinary care for individuals with arthrogryposis. 61
31471949 2019
43
Disease coding systems for arthrogryposis multiplex congenita. 61
31232506 2019
44
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management. 61
31218730 2019
45
Predicting Ambulatory Function Based on Infantile Lower Extremity Posture Types in Amyoplasia Arthrogryposis. 61
30672764 2019
46
Challenging clubfeet: the arthrogrypotic clubfoot and the complex clubfoot. 61
31312267 2019
47
New Insights of a Neuronal Peptidase DINE/ECEL1: Nerve Development, Nerve Regeneration and Neurogenic Pathogenesis. 61
30357652 2019
48
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. 61
30938034 2019
49
Elbow Flexion Assist Orthosis for Arthrogryposis. 61
31374678 2019
50
SYNE1-ataxia: Novel genotypic and phenotypic findings. 61
30573412 2019

Variations for Distal Arthrogryposis

ClinVar genetic disease variations for Distal Arthrogryposis:

6 (show top 50) (show all 147) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASCC1 NM_001198800.3(ASCC1):c.626+1G>ASNV Pathogenic 619021 10:73921295-73921295 10:72161537-72161537
2 MYOD1 NM_002478.5(MYOD1):c.557dup (p.Arg188fs)duplication Pathogenic 631486 11:17741881-17741882 11:17720334-17720335
3 PIEZO2 NM_022068.3(PIEZO2):c.1384C>T (p.Arg462Ter)SNV Pathogenic 632546 rs1568069621 18:10797515-10797515 18:10797517-10797517
4 RYR1 NM_000540.2(RYR1):c.10620C>G (p.Tyr3540Ter)SNV Pathogenic 433177 rs758247804 19:39016136-39016136 19:38525496-38525496
5 ASPM NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)SNV Pathogenic 692298 1:197097693-197097693 1:197128563-197128563
6 ACTA1 NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)SNV Pathogenic 692271 1:229567810-229567810 1:229432063-229432063
7 ADSS1 NM_152328.4(ADSS1):c.741del (p.Lys248fs)deletion Pathogenic 692295 14:105207522-105207522 14:104741185-104741185
8 CNTNAP1 NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)SNV Pathogenic 692274 17:40835840-40835840 17:42683822-42683822
9 RYR1 NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs)duplication Pathogenic 692286 19:38951153-38951154 19:38460513-38460514
10 RYR1 NM_000540.3(RYR1):c.5618del (p.Glu1873fs)deletion Pathogenic 692288 19:38979887-38979887 19:38489247-38489247
11 RYR1 NM_000540.3(RYR1):c.14647-15_14649deldeletion Pathogenic 692285 19:39075562-39075579 19:38584922-38584939
12 TNNI2 NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)SNV Pathogenic 12436 rs104894312 11:1862698-1862698 11:1841468-1841468
13 PIEZO2 NM_022068.3(PIEZO2):c.8057G>A (p.Arg2686His)SNV Pathogenic 137629 rs587777450 18:10671726-10671726 18:10671729-10671729
14 ADGRG6 NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)SNV Pathogenic 192347 rs749355583 6:142630697-142630697 6:142309560-142309560
15 ADGRG6 NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs)duplication Pathogenic 192348 rs793888524 6:142726839-142726840 6:142405702-142405703
16 ADGRG6 NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)SNV Pathogenic 192349 rs793888525 6:142729324-142729324 6:142408187-142408187
17 PIEZO2 NM_022068.3(PIEZO2):c.8175_8177AGA[2] (p.Glu2727del)short repeat Pathogenic 235839 rs1555621138 18:10671600-10671602 18:10671603-10671605
18 ASPM NM_018136.5(ASPM):c.3082+1G>CSNV Pathogenic/Likely pathogenic 280518 rs886041709 1:197094175-197094175 1:197125045-197125045
19 USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs)deletion Pathogenic/Likely pathogenic 2351 rs80338903 1:216420437-216420437 1:216247095-216247095
20 RYR1 NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)SNV Likely pathogenic 692290 19:38948180-38948180 19:38457540-38457540
21 RYR1 NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg)SNV Likely pathogenic 692284 19:38948932-38948932 19:38458292-38458292
22 MYH3 NM_002470.4(MYH3):c.1504T>G (p.Tyr502Asp)SNV Likely pathogenic 211550 rs797045727 17:10546220-10546220 17:10642903-10642903
23 SEPSECS NM_016955.4(SEPSECS):c.388+5G>ASNV Likely pathogenic 374085 rs1057518887 4:25158473-25158473 4:25156851-25156851
24 ATP2B3 NM_001001344.2(ATP2B3):c.197C>T (p.Ser66Leu)SNV Likely pathogenic 692299 X:152801902-152801902 X:153536444-153536444
25 MYLPF NM_013292.5(MYLPF):c.98C>T (p.Ala33Val)SNV Likely pathogenic 916688 16:30387467-30387467 16:30376146-30376146
26 MYLPF NM_013292.5(MYLPF):c.469T>C (p.Cys157Arg)SNV Likely pathogenic 916686 16:30389180-30389180 16:30377859-30377859
27 MYLPF NM_013292.5(MYLPF):c.470G>T (p.Cys157Phe)SNV Likely pathogenic 916685 16:30389181-30389181 16:30377860-30377860
28 MYLPF NM_013292.5(MYLPF):c.487G>A (p.Gly163Ser)SNV Likely pathogenic 916687 16:30389198-30389198 16:30377877-30377877
29 RYR1 NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)SNV Likely pathogenic 692292 19:38990631-38990631 19:38499991-38499991
30 RYR1 NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)SNV Likely pathogenic 692287 19:38994957-38994957 19:38504317-38504317
31 RYR1 NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)SNV Likely pathogenic 692289 19:39008331-39008331 19:38517691-38517691
32 RYR1 NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)SNV Likely pathogenic 692291 19:39062910-39062910 19:38572270-38572270
33 CNTNAP1 NM_003632.3(CNTNAP1):c.1906G>A (p.Val636Met)SNV Likely pathogenic 692275 17:40842807-40842807 17:42690789-42690789
34 SCN4A NM_000334.4(SCN4A):c.2018T>C (p.Leu673Pro)SNV Likely pathogenic 692293 17:62036626-62036626 17:63959266-63959266
35 PIEZO2 NM_022068.3(PIEZO2):c.911A>G (p.Tyr304Cys)SNV Likely pathogenic 692282 18:10855357-10855357 18:10855359-10855359
36 LGI4 NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln)SNV Likely pathogenic 692278 19:35617442-35617442 19:35126538-35126538
37 LGI4 NM_139284.3(LGI4):c.504G>C (p.Trp168Cys)SNV Likely pathogenic 692277 19:35622414-35622414 19:35131510-35131510
38 EARS2 NM_001083614.2(EARS2):c.1277_1279dup (p.Arg427_Pro428insPro)duplication Likely pathogenic 692301 16:23540895-23540896 16:23529574-23529575
39 EARS2 NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)SNV Likely pathogenic 692300 16:23546353-23546353 16:23535032-23535032
40 NALCN NM_052867.4(NALCN):c.1783G>T (p.Val595Phe)SNV Likely pathogenic 692280 13:101828707-101828707 13:101176356-101176356
41 NALCN NM_052867.4(NALCN):c.950T>G (p.Phe317Cys)SNV Likely pathogenic 692279 13:101944438-101944438 13:101292087-101292087
42 NALCN NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys)SNV Likely pathogenic 692281 13:102047634-102047634 13:101395283-101395283
43 RAPSN NM_005055.5(RAPSN):c.794C>T (p.Ala265Val)SNV Likely pathogenic 692283 11:47463281-47463281 11:47441729-47441729
44 BICD2 NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)deletion Likely pathogenic 422408 rs1064795760 9:95481289-95481291 9:92719007-92719009
45 GBE1 NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)SNV Likely pathogenic 425301 rs552094593 3:81586172-81586172 3:81537021-81537021
46 RYR1 NM_000540.2(RYR1):c.3224G>A (p.Arg1075Gln)SNV Likely pathogenic 433176 rs749040743 19:38958295-38958295 19:38467655-38467655
47 SCN8A NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)SNV Likely pathogenic 692305 12:52093366-52093366 12:51699582-51699582
48 GLDN NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)SNV Likely pathogenic 452116 rs750803388 15:51696723-51696723 15:51404526-51404526
49 KLHL7 NM_001031710.3(KLHL7):c.618+1G>ASNV Likely pathogenic 487514 rs1554289078 7:23180564-23180564 7:23140945-23140945
50 CHRND NM_000751.3(CHRND):c.452G>C (p.Cys151Ser)SNV Likely pathogenic 692273 2:233393309-233393309 2:232528599-232528599

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

Pathways related to Distal Arthrogryposis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.38 TPM2 TNNT3 TNNI2 TNNC2 RYR1 MYH8
2
Show member pathways
12.23 MYH8 MYH6 MYH3 ACTA1
3
Show member pathways
12 MYH8 MYH6 MYH3 ACTA1
4 11.23 MYH8 MYH6 MYH3
5 11.18 TPM2 TNNT3 TNNI2 TNNC2 MYH8 MYH6
6 11 MYH8 MYH6 MYH3 ACTA1

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 sarcomere GO:0030017 9.56 MYH8 MYH6 MYH3 ACTA1
2 myosin complex GO:0016459 9.54 MYH8 MYH6 MYH3
3 muscle myosin complex GO:0005859 9.5 MYH8 MYH6 MYH3
4 myofibril GO:0030016 9.35 MYOD1 MYH8 MYH6 MYH3 MYBPC1
5 troponin complex GO:0005861 9.33 TNNT3 TNNI2 TNNC2
6 myosin filament GO:0032982 9.02 MYH8 MYH6 MYH3 MYBPC2 MYBPC1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.65 TNNT3 TNNI2 MYH6
2 sarcomere organization GO:0045214 9.61 TNNT3 MYH6 MYH3
3 muscle contraction GO:0006936 9.61 TPM2 TNNT3 TNNI2 RYR1 MYH8 MYH6
4 ATP metabolic process GO:0046034 9.58 MYH8 MYH6 MYH3
5 skeletal muscle contraction GO:0003009 9.55 TNNT3 TNNI2 TNNC2 MYH8 MYH3
6 skeletal muscle fiber development GO:0048741 9.54 RYR1 MYOD1 ACTA1
7 actin filament-based movement GO:0030048 9.51 MYH6 MYH3
8 regulation of muscle contraction GO:0006937 9.5 TNNT3 TNNI2 TNNC2
9 myelination in peripheral nervous system GO:0022011 9.49 CNTNAP1 ADGRG6
10 skeletal muscle fiber adaptation GO:0043503 9.46 MYOD1 ACTA1
11 regulation of ATPase activity GO:0043462 9.43 TPM2 TNNT3 MYH6
12 muscle filament sliding GO:0030049 9.32 TPM2 TNNT3 TNNI2 TNNC2 MYH8 MYH6

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

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.72 RYR1 MYH8 MYH6 MYH3 ASPM
2 actin filament binding GO:0051015 9.63 TPM2 TNNC2 MYH8 MYH6 MYH3 ADSS1
3 motor activity GO:0003774 9.58 MYH8 MYH6 MYH3
4 structural constituent of muscle GO:0008307 9.56 TPM2 MYH8 MYBPC2 MYBPC1
5 microfilament motor activity GO:0000146 9.54 MYH8 MYH6 MYH3
6 myosin binding GO:0017022 9.43 USH2A ACTA1
7 actin binding GO:0003779 9.28 TPM2 TNNT3 TNNI2 TNNC2 MYH8 MYH6
8 myosin phosphatase activity GO:0017018 9.13 MYH8 MYH6 MYH3

Sources for Distal Arthrogryposis

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