DA1A
MCID: ART144
MIFTS: 61

Arthrogryposis, Distal, Type 1a (DA1A)

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 Arthrogryposis, Distal, Type 1a

MalaCards integrated aliases for Arthrogryposis, Distal, Type 1a:

Name: Arthrogryposis, Distal, Type 1a 56
Distal Arthrogryposis Type 1a 12 52 29 6 15
Arthrogryposis Multiplex Congenita 73 29 6 32
Arthrogryposis, Distal, Type 2b4 56 73 29 6
Distal Arthrogryposis Type 1 12 52 25 15
Digitotalar Dysmorphism 12 52 43 71
Amcd1 56 52 25 73
Da1a 56 12 52 73
Da1 56 12 25
Arthrogryposis Multiplex Congenita, Distal Type 1 74 43
Arthrogryposis Multiplex Congenita Distal Type 1 52 73
Arthrogryposis, Distal, Type 1 56 25
Arthrogryposis Multiplex Congenita, Distal, Type I; Amcd1 56
Arthrogryposis Multiplex Congenita, Distal, Type I 56
Arthrogryposis Multiplex Congenita, Distal, Type 1 13
Arthrogryposis, Distal, Type 1; Da1 56
Distal Arthrogryposis Type 1b 52
Arthrogryposis, Distal, 2b4 73
Arthrogryposis, Distal, 1a 73
Arthrogryposis 71
Da2b4 73
Amc 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
marked intrafamilial and interfamilial phenotypic variability
patients are variably described as having da1a or da2b
most frequently affected joints are the hands and feet


HPO:

31
arthrogryposis, distal, type 1a:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Arthrogryposis, Distal, Type 1a

OMIM : 56 In general, the distal arthrogryposes are a group of disorders characterized by contractures mainly involving the distal parts of the limbs. The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. Contractures at other joints are variable; there are no associated visceral anomalies, and intelligence is normal. Bamshad et al. (1996) revised the classification by Hall et al. (1982) of the common mendelian arthrogryposis syndromes. The various phenotypic forms of distal arthrogryposis are classified hierarchically according to the proportion of features they share with one another and are designated DA1 through DA10 (summary by Bamshad et al., 2009). The prototypic distal arthrogryposis is type 1 (DA1), which is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. While the pattern of affected joints is consistent, the degree to which the joints are affected is highly variable, with equinovarus deformities ranging from mild to severe and hand involvement ranging from isolated hypoplasia of the distal interphalangeal crease of the fifth digit to severely clenched fists and ulnar deviation of the wrist (summary by Bamshad et al., 1996). Classically, DA was defined as being without overt neurologic or muscle disease (Lin et al., 1977 and Hall et al., 1982), although more recent evidence suggests that DA1A results from muscle dysfunction (Robinson et al., 2007; Mokbel et al., 2013; Davidson et al., 2013) (summary by Bamshad et al., 2009). The congenital contractures in distal arthrogryposis type 2B (Sheldon-Hall syndrome; see 601680) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by Bamshad et al., 2009). A review of patients diagnosed with DA1 or DA2B by Beck et al. (2013) found that the same mutation caused DA1 in some famlies and DA2B in others. There were no significant differences among the clinical characteristics of DA by locus or between each locus and DA1 or DA2B. The authors suggested that DA1 and DA2B might represent phenotypic extremes of the same disorder. (108120)

MalaCards based summary : Arthrogryposis, Distal, Type 1a, also known as distal arthrogryposis type 1a, is related to fetal akinesia deformation sequence 1 and arthrogryposis, distal, type 2b1, and has symptoms including muscle weakness, arthralgia and myalgia. An important gene associated with Arthrogryposis, Distal, Type 1a is TPM2 (Tropomyosin 2), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. The drugs Everolimus and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lung, and related phenotypes are scoliosis and lymphedema

Disease Ontology : 12 A distal arthrogryposis type 1 that has material basis in heterozygous mutation in TPM2 on chromosome 9p13.3.

Genetics Home Reference : 25 Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, is also commonly seen with distal arthrogryposis type 1. The specific hand and foot abnormalities vary among affected individuals. However, this condition typically does not cause any signs and symptoms affecting other parts of the body.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1146 Definition Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term). Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 73 Arthrogryposis, distal, 1A: 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. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.
Arthrogryposis, distal, 2B4: 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. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures.

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

Related Diseases for Arthrogryposis, Distal, Type 1a

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 Arthrogryposis, Distal, Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 240)
# Related Disease Score Top Affiliating Genes
1 fetal akinesia deformation sequence 1 34.5 RYR1 PIEZO2 MYOD1 CNTNAP1 ASPM ASCC1
2 arthrogryposis, distal, type 2b1 33.8 TPM2 TNNT3 TNNI2 MYH3
3 multiple pterygium syndrome, escobar variant 33.4 TPM2 TNNT3 TNNI2 RYR1 PIEZO2 MYH3
4 arthrogryposis, distal, type 1b 33.2 TNNT3 TNNI2 SOX6 SLC17A6 PIEZO2 OTX2
5 digitotalar dysmorphism 32.7 TPM2 TNNT3 TNNI2 MYH3 MYBPC1
6 arthrogryposis, distal, type 5d 32.6 TNNT3 TNNI2 PIEZO2 MYH3 MYBPC1
7 arthrogryposis, distal, type 5 32.3 TPM2 TNNT3 TNNI2 SOX6 SLC17A6 PIEZO2
8 congenital contractures 31.9 TNNT3 RYR1 ASCC1
9 scoliosis 31.7 RYR1 PIEZO2 MYH3 MYBPC1 ADGRG6
10 clubfoot 31.7 TPM2 TNNT3 TNNI2 RYR1 MYH3 MYBPC1
11 neuromuscular disease 31.5 RYR1 MYOD1 ASCC1 ACTA1
12 myopathy 31.4 TPM2 TNNI2 RYR1 PIEZO2 MYOD1 MYH3
13 lethal congenital contracture syndrome 31.1 MYBPC1 CNTNAP1 ADGRG6
14 myopathy, congenital 30.9 RYR1 MYBPC1 ACTA1
15 centronuclear myopathy 30.8 TPM2 RYR1 ACTA1
16 distal arthrogryposis 30.5 TPM2 TNNT3 TNNI2 RYR1 PIEZO2 MYOD1
17 arthrogryposis, distal, type 2a 30.3 TPM2 TNNT3 TNNI2 SOX6 SLC17A6 PITX3
18 arthrogryposis multiplex congenita, neurogenic type 13.2
19 arthrogryposis multiplex congenita, myogenic type 13.1
20 arthrogryposis multiplex congenita, neurogenic, with myelin defect 13.0
21 arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum 12.9
22 arthrogryposis multiplex congenita cns calcification 12.5
23 antenatal multiminicore disease with arthrogryposis multiplex congenita 12.5
24 mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 12.5
25 illum syndrome 12.5
26 arthrogryposis, distal, type 3 12.5
27 spinal muscular atrophy, x-linked 2 12.4
28 arthrogryposis, renal dysfunction, and cholestasis 1 12.4
29 wieacker-wolff syndrome 12.0
30 bruck syndrome 12.0
31 lethal congenital contracture syndrome 8 11.9
32 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 11.9
33 boylan dew greco syndrome 11.8
34 massa casaer ceulemans syndrome 11.8
35 lethal congenital contracture syndrome 7 11.8
36 wieacker-wolff syndrome, female-restricted 11.8
37 congenital arthrogryposis with anterior horn cell disease 11.8
38 spinal muscular atrophy with congenital bone fractures 1 11.6
39 spinal muscular atrophy with congenital bone fractures 2 11.6
40 glycine encephalopathy with normal serum glycine 11.6
41 arthrogryposis epileptic seizures migrational brain disorder 11.5
42 muscular dystrophy, congenital, producing arthrogryposis 11.5
43 bruck syndrome 1 11.5
44 arthrogryposis, renal dysfunction, and cholestasis 2 11.5
45 neuropathy, congenital hypomyelinating, 2 11.5
46 neuropathy, congenital hypomyelinating, 3 11.5
47 spinal muscular atrophy with lower extremity predominante 2b 11.5
48 typical congenital nemaline myopathy 10.6 TPM2 ACTA1
49 congenital myopathy with cores 10.6 RYR1 ACTA1
50 childhood-onset nemaline myopathy 10.6 TPM2 ACTA1

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 1a:



Diseases related to Arthrogryposis, Distal, Type 1a

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 1a

Human phenotypes related to Arthrogryposis, Distal, Type 1a:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 hallmark (90%) HP:0002650
2 lymphedema 31 hallmark (90%) HP:0001004
3 depressed nasal ridge 31 hallmark (90%) HP:0000457
4 low-set, posteriorly rotated ears 31 hallmark (90%) HP:0000368
5 polyhydramnios 31 hallmark (90%) HP:0001561
6 talipes 31 hallmark (90%) HP:0001883
7 hip dislocation 31 hallmark (90%) HP:0002827
8 abnormality of the gastric mucosa 31 hallmark (90%) HP:0004295
9 congenital diaphragmatic hernia 31 hallmark (90%) HP:0000776
10 aplasia/hypoplasia of the lungs 31 hallmark (90%) HP:0006703
11 arthrogryposis multiplex congenita 31 hallmark (90%) HP:0002804
12 ulnar deviation of finger 31 hallmark (90%) HP:0009465
13 abnormality of the wrist 31 hallmark (90%) HP:0003019
14 gastroschisis 31 hallmark (90%) HP:0001543
15 abnormal pleura morphology 31 hallmark (90%) HP:0002103
16 sensorineural hearing impairment 31 very rare (1%) HP:0000407
17 short stature 31 HP:0004322
18 narrow mouth 31 HP:0000160
19 cryptorchidism 31 HP:0000028
20 retrognathia 31 HP:0000278
21 low-set ears 31 HP:0000369
22 webbed neck 31 HP:0000465
23 ptosis 31 HP:0000508
24 elbow flexion contracture 31 HP:0002987
25 congenital hip dislocation 31 HP:0001374
26 talipes equinovarus 31 HP:0001762
27 adducted thumb 31 HP:0001181
28 trismus 31 HP:0000211
29 hip contracture 31 HP:0003273
30 single transverse palmar crease 31 HP:0000954
31 overlapping fingers 31 HP:0010557
32 rocker bottom foot 31 HP:0001838
33 knee flexion contracture 31 HP:0006380
34 hand clenching 31 HP:0001188
35 generalized hypotonia 31 HP:0001290
36 camptodactyly 31 HP:0012385
37 decreased hip abduction 31 HP:0003184
38 joint contracture of the hand 31 HP:0009473
39 overlapping toe 31 HP:0001845
40 absent distal interphalangeal creases 31 HP:0001032
41 calcaneovalgus deformity 31 HP:0001848
42 ulnar deviation of the hand or of fingers of the hand 31 HP:0001193
43 stiff shoulders 31 HP:0009742

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Head And Neck Ears:
low-set ears
attached earlobes
sensorineural hearing loss, mild (in some patients)

Skeletal Pelvis:
congenital hip dislocation
decreased hip abduction
hip flexion contractures

Muscle Soft Tissue:
hypotonia
congenital fiber type disproportion (in 1 patient)

Head And Neck Face:
retrognathia, mild
prominent nasolabial folds

Skeletal Limbs:
elbow flexion contractures
knee contractures

Skin Nails Hair Skin:
smooth palms

Growth Height:
short stature

Head And Neck Neck:
webbed neck

Skeletal Hands:
single transverse palmar crease
overlapping fingers
camptodactyly
absent distal interphalangeal creases
tightly clenched hands (visible on ultrasound)
more
Head And Neck Mouth:
small mouth
impaired mouth opening

Head And Neck Eyes:
ptosis (in 1 patient)

Skeletal Feet:
contractures of small joints
talipes equinovarus (clubfoot)
talocalcaneal coalition, bilateral
overlapping toes

Clinical features from OMIM:

108120

UMLS symptoms related to Arthrogryposis, Distal, Type 1a:


muscle weakness, arthralgia, myalgia, muscle cramp, metatarsalgia, muscle rigidity, muscle spasticity

GenomeRNAi Phenotypes related to Arthrogryposis, Distal, Type 1a 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 MYH3 PIEZO2 RYR1 TNNI2
3 Decreased viability GR00381-A-1 9.53 MYH3 PIEZO2
4 Decreased viability GR00386-A-1 9.53 CNTNAP1 OTX2 SOX6
5 Decreased viability GR00402-S-2 9.53 CNTNAP1 MYBPC1 PIEZO2 SOX6 TPM2

MGI Mouse Phenotypes related to Arthrogryposis, Distal, Type 1a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 ACTA1 ADGRG6 ASCC1 ASPM CNTNAP1 MET
2 mortality/aging MP:0010768 10.07 ACTA1 ADGRG6 ASCC1 CNTNAP1 MET MYOD1
3 adipose tissue MP:0005375 9.91 ACTA1 ASPM MYOD1 PITX3 RYR1 SLC17A6
4 muscle MP:0005369 9.76 ACTA1 ADGRG6 CNTNAP1 MET MYOD1 OTX2
5 respiratory system MP:0005388 9.5 MET MYOD1 OTX2 PITX3 RYR1 SLC17A6
6 skeleton MP:0005390 9.32 ACTA1 ADGRG6 CNTNAP1 MYOD1 OTX2 PITX3

Drugs & Therapeutics for Arthrogryposis, Distal, Type 1a

Drugs for Arthrogryposis, Distal, Type 1a (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 Arthrogryposis, Distal, Type 1a

Cochrane evidence based reviews: digitotalar dysmorphism

Genetic Tests for Arthrogryposis, Distal, Type 1a

Genetic tests related to Arthrogryposis, Distal, Type 1a:

# Genetic test Affiliating Genes
1 Distal Arthrogryposis Type 1a 29 TPM2
2 Arthrogryposis Multiplex Congenita 29
3 Arthrogryposis, Distal, Type 2b4 29

Anatomical Context for Arthrogryposis, Distal, Type 1a

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 1a:

40
Kidney, Liver, Lung, Skeletal Muscle

Publications for Arthrogryposis, Distal, Type 1a

Articles related to Arthrogryposis, Distal, Type 1a:

(show all 28)
# Title Authors PMID Year
1
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. 6 56
30285720 2018
2
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. 56 6
27726070 2017
3
First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. 56 6
23678273 2013
4
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. 6 56
17339586 2007
5
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. 6 56
17194691 2007
6
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. 6 56
12592607 2003
7
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. 6 56
7977374 1994
8
Distal arthrogryposis type 1: clinical analysis of a large kindred. 56 61
8923936 1996
9
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. 56
23401156 2013
10
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. 56
23378224 2013
11
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. 56
23413262 2013
12
Arthrogryposis: a review and update. 56
19571066 2009
13
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. 56
9012416 1997
14
A revised and extended classification of the distal arthrogryposes. 56
8923935 1996
15
Prenatal diagnosis of distal arthrogryposis. 56
3287922 1988
16
Part I. Amyoplasia: a common, sporadic condition with congenital contractures. 56
6614047 1983
17
The distal arthrogryposes: delineation of new entities--review and nosologic discussion. 56
7039311 1982
18
Autosomal-dominant inheritance of distal arthrogryposis. 56
7446562 1980
19
A dominantly inherited form of arthrogryposis multiplex congenita with unusual dermatoglyphics. 56
729196 1978
20
A new familial arthrogryposis without weakness. 56
4855665 1974
21
Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. 54
19142688 2009
22
New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations. 54
19047562 2008
23
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 54
15328566 2004
24
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence. 54
15214004 2004
25
Survival motor neuron (SMN) polymorphism in relation to congenital arthrogryposis in two Piedmont calves (piemontese). 54
12927089 2003
26
Phenotype and genotype correlation in childhood spinal muscular atrophy. 54
12001651 2001
27
Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses. 54
10756347 2000
28
Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. 54
8677029 1996

Variations for Arthrogryposis, Distal, Type 1a

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 1a:

6 (show top 50) (show all 193) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 TPM2 NM_213674.1(TPM2):c.308A>G (p.Gln103Arg)SNV Pathogenic 631479 rs1563929383 9:35685710-35685710 9:35685713-35685713
3 TPM2 NM_213674.1(TPM2):c.374+2T>CSNV Pathogenic 631480 rs113612402 9:35685642-35685642 9:35685645-35685645
4 MYOD1 NM_002478.5(MYOD1):c.557dup (p.Arg188fs)duplication Pathogenic 631486 11:17741881-17741882 11:17720334-17720335
5 PIEZO2 NM_022068.3(PIEZO2):c.1384C>T (p.Arg462Ter)SNV Pathogenic 632546 rs1568069621 18:10797515-10797515 18:10797517-10797517
6 ASPM NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)SNV Pathogenic 692298 1:197097693-197097693 1:197128563-197128563
7 ACTA1 NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)SNV Pathogenic 692271 1:229567810-229567810 1:229432063-229432063
8 CNTNAP1 NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter)SNV Pathogenic 560980 rs1567973091 17:40842916-40842916 17:42690898-42690898
9 TPM2 NM_213674.1(TPM2):c.271C>G (p.Arg91Gly)SNV Pathogenic 12460 rs104894127 9:35685747-35685747 9:35685750-35685750
10 TPM2 NM_213674.1(TPM2):c.349G>A (p.Glu117Lys)SNV Pathogenic 12462 rs104894129 9:35685669-35685669 9:35685672-35685672
11 TPM2 NM_213674.1(TPM2):c.397C>T (p.Arg133Trp)SNV Pathogenic 12463 rs137853305 9:35685526-35685526 9:35685529-35685529
12 TPM2 NM_213674.1(TPM2):c.412_414GAG[1] (p.Glu139del)short repeat Pathogenic 12465 rs199476153 9:35685506-35685508 9:35685509-35685511
13 TPM2 NM_213674.1(TPM2):c.14_16AGA[2] (p.Lys7del)short repeat Pathogenic 140486 rs199476146 9:35689793-35689795 9:35689796-35689798
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.8057G>A (p.Arg2686His)SNV Pathogenic 137629 rs587777450 18:10671726-10671726 18:10671729-10671729
18 RYR1 NM_000540.3(RYR1):c.14647-15_14649deldeletion Pathogenic 692285 19:39075562-39075579 19:38584922-38584939
19 RYR1 NM_000540.3(RYR1):c.5618del (p.Glu1873fs)deletion Pathogenic 692288 19:38979887-38979887 19:38489247-38489247
20 RYR1 NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs)duplication Pathogenic 692286 19:38951153-38951154 19:38460513-38460514
21 CNTNAP1 NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)SNV Pathogenic 692274 17:40835840-40835840 17:42683822-42683822
22 TPM2 NM_003289.4(TPM2):c.620_631dup (p.Ala211_Asp212insValGluAlaGln)duplication Pathogenic 816832 9:35684736-35684737 9:35684739-35684740
23 ADSS1 NM_152328.4(ADSS1):c.741del (p.Lys248fs)deletion Pathogenic 692295 14:105207522-105207522 14:104741185-104741185
24 ASCC1 NM_001198800.3(ASCC1):c.626+1G>ASNV Pathogenic 619021 10:73921295-73921295 10:72161537-72161537
25 ASPM NM_018136.5(ASPM):c.3082+1G>CSNV Pathogenic/Likely pathogenic 280518 rs886041709 1:197094175-197094175 1:197125045-197125045
26 TPM2 NM_003289.4(TPM2):c.180T>G (p.Tyr60Ter)SNV Likely pathogenic 816834 9:35689203-35689203 9:35689206-35689206
27 SEPSECS NM_016955.4(SEPSECS):c.388+5G>ASNV Likely pathogenic 374085 rs1057518887 4:25158473-25158473 4:25156851-25156851
28 ATP1A2 NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs)deletion Likely pathogenic 562228 rs1558008455 1:160105074-160105075 1:160135284-160135285
29 KIAA1109 NM_015312.3(KIAA1109):c.3926G>A (p.Arg1309Gln)SNV Likely pathogenic 692318 4:123160763-123160763 4:122239608-122239608
30 KIAA1109 NM_015312.3(KIAA1109):c.11890T>C (p.Tyr3964His)SNV Likely pathogenic 692319 4:123257388-123257388 4:122336233-122336233
31 CHRND NM_000751.3(CHRND):c.452G>C (p.Cys151Ser)SNV Likely pathogenic 692273 2:233393309-233393309 2:232528599-232528599
32 CHRNG NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys)indel Likely pathogenic 692272 2:233407697-233407698 2:232542987-232542988
33 MET NM_001127500.3(MET):c.3755A>G (p.Tyr1252Cys)SNV risk factor 446117 rs1554400286 7:116423426-116423426 7:116783372-116783372
34 BICD2 NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)deletion Likely pathogenic 422408 rs1064795760 9:95481289-95481291 9:92719007-92719009
35 GBE1 NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)SNV Likely pathogenic 425301 rs552094593 3:81586172-81586172 3:81537021-81537021
36 RYR1 NM_000540.2(RYR1):c.3224G>A (p.Arg1075Gln)SNV Likely pathogenic 433176 rs749040743 19:38958295-38958295 19:38467655-38467655
37 ASAH1 NM_177924.5(ASAH1):c.491G>T (p.Gly164Val)SNV Likely pathogenic 692297 8:17920706-17920706 8:18063197-18063197
38 ALDH5A1 NM_001080.3(ALDH5A1):c.814del (p.Cys272fs)deletion Likely pathogenic 692306 6:24515480-24515480 6:24515252-24515252
39 RAPSN NM_005055.5(RAPSN):c.794C>T (p.Ala265Val)SNV Likely pathogenic 692283 11:47463281-47463281 11:47441729-47441729
40 ATP1A2 NM_000702.4(ATP1A2):c.835del (p.Arg279fs)deletion Likely pathogenic 586989 rs1558005340 1:160097428-160097428 1:160127638-160127638
41 EARS2 NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)SNV Likely pathogenic 692300 16:23546353-23546353 16:23535032-23535032
42 EARS2 NM_001083614.2(EARS2):c.1277_1279dup (p.Arg427_Pro428insPro)duplication Likely pathogenic 692301 16:23540895-23540896 16:23529574-23529575
43 NALCN NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys)SNV Likely pathogenic 692281 13:102047634-102047634 13:101395283-101395283
44 NALCN NM_052867.4(NALCN):c.950T>G (p.Phe317Cys)SNV Likely pathogenic 692279 13:101944438-101944438 13:101292087-101292087
45 NALCN NM_052867.4(NALCN):c.1783G>T (p.Val595Phe)SNV Likely pathogenic 692280 13:101828707-101828707 13:101176356-101176356
46 SCN8A NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)SNV Likely pathogenic 692305 12:52093366-52093366 12:51699582-51699582
47 RYR1 NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg)SNV Likely pathogenic 692284 19:38948932-38948932 19:38458292-38458292
48 RYR1 NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)SNV Likely pathogenic 692290 19:38948180-38948180 19:38457540-38457540
49 LGI4 NM_139284.3(LGI4):c.504G>C (p.Trp168Cys)SNV Likely pathogenic 692277 19:35622414-35622414 19:35131510-35131510
50 LGI4 NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln)SNV Likely pathogenic 692278 19:35617442-35617442 19:35126538-35126538

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 1a:

73
# Symbol AA change Variation ID SNP ID
1 TPM2 p.Arg91Gly VAR_016086 rs104894127
2 TPM2 p.Arg133Trp VAR_070981 rs137853305
3 TPM2 p.Gln93Arg VAR_071490 rs199476151
4 TPM2 p.Glu117Lys VAR_071491 rs104894129
5 TPM2 p.Tyr261Cys VAR_071498

Expression for Arthrogryposis, Distal, Type 1a

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 1a.

Pathways for Arthrogryposis, Distal, Type 1a

GO Terms for Arthrogryposis, Distal, Type 1a

Cellular components related to Arthrogryposis, Distal, Type 1a according to GeneCards Suite gene sharing:

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

Biological processes related to Arthrogryposis, Distal, Type 1a according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.99 SOX6 RYR1 PITX3 OTX2 MYOD1 MET
2 positive regulation of transcription, DNA-templated GO:0045893 9.88 TNNI2 SOX6 PITX3 OTX2 MYOD1
3 muscle organ development GO:0007517 9.58 SOX6 MYOD1 MYH3
4 dopaminergic neuron differentiation GO:0071542 9.49 PITX3 OTX2
5 myelination in peripheral nervous system GO:0022011 9.46 CNTNAP1 ADGRG6
6 regulation of muscle contraction GO:0006937 9.43 TNNT3 TNNI2
7 skeletal muscle contraction GO:0003009 9.43 TNNT3 TNNI2 MYH3
8 muscle contraction GO:0006936 9.43 TPM2 TNNT3 TNNI2 RYR1 MYBPC1 ACTA1
9 regulation of ATPase activity GO:0043462 9.37 TPM2 TNNT3
10 skeletal muscle fiber development GO:0048741 9.33 RYR1 MYOD1 ACTA1
11 skeletal muscle fiber adaptation GO:0043503 9.32 MYOD1 ACTA1
12 muscle filament sliding GO:0030049 9.1 TPM2 TNNT3 TNNI2 MYH3 MYBPC1 ACTA1

Molecular functions related to Arthrogryposis, Distal, Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.02 TPM2 TNNT3 TNNI2 MYH3 MYBPC1

Sources for Arthrogryposis, Distal, Type 1a

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
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43 MeSH
44 MESH via Orphanet
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48 NCI
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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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