MCID: DST002
MIFTS: 59

Distal Arthrogryposis

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

Aliases & Classifications for Distal Arthrogryposis

MalaCards integrated aliases for Distal Arthrogryposis:

Name: Distal Arthrogryposis 12 53 37 29 6 15
Arthrogryposis Multiplex Congenita 12 76 53 29 6
Arthrogryposis 53 55 73
Arthrogryposis Multiplex Congenita Distal 53 6
Freeman-Sheldon Syndrome 12 73
Fibrous Ankylosis of Multiple Joints 53
Congenital Multiple Arthrogryposis 53
Freeman-Sheldon Syndrome Variant 12
Arthrogryposis, Distal, Type 2b 73
Myodystrophia Fetalis Deformans 53
Distal Arthrogryposis Syndrome 73
Congenital Arthromyodysplasia 53
Rocher-Sheldon Syndrome 53
Arthrogryposis, Distal 40
Sheldon-Hall Syndrome 12
Guerin-Stern Syndrome 53
Guérin-Stern Syndrome 53
Rossi Syndrome 53
Otto Syndrome 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0050646
KEGG 37 H00811
ICD10 33 Q74.3

Summaries for Distal Arthrogryposis

NIH Rare Diseases : 53 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 Adenosine and Vasodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and liver, and related phenotypes are muscle and respiratory system

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

Wikipedia : 76 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 9 Arthrogryposis, Distal, Type 2e
Arthrogryposis, Distal, Type 7 Arthrogryposis, Distal, Type 8
Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 2a
Arthrogryposis, Distal, Type 4 Arthrogryposis, Distal, Type 1b
Arthrogryposis, Distal, Type 5d

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

(show top 50) (show all 283)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 1a 33.7 MYBPC1 TPM2
2 arthrogryposis, distal, type 5 33.3 MYH3 NALCN PIEZO2 TNNI2 TNNT3 TPM2
3 arthrogryposis, distal, type 2a 33.2 MYH3 NALCN
4 digitotalar dysmorphism 31.4 MYBPC1 MYH3 NALCN TNNI2 TNNT3 TPM2
5 marden-walker syndrome 30.3 FBN2 PIEZO2
6 congenital contractures 30.0 NALCN TNNT3
7 clubfoot 29.8 ECEL1 MYBPC1 MYH3 TNNT3 TPM2
8 ptosis 29.8 DOK7 ECEL1 PIEZO2
9 scoliosis 29.7 FBN2 MYH3 PIEZO2
10 strabismus 29.6 ECEL1 NALCN PIEZO2
11 arthrogryposis multiplex congenita, neurogenic type 13.0
12 arthrogryposis multiplex congenita, neurogenic, with myelin defect 12.7
13 arthrogryposis multiplex congenita whistling face 12.6
14 autosomal recessive myogenic arthrogryposis multiplex congenita 12.5
15 lethal arthrogryposis with anterior horn cell disease 12.4
16 arthrogryposis, perthes disease, and upward gaze palsy 12.4
17 arthrogryposis multiplex congenita cns calcification 12.3
18 antenatal multiminicore disease with arthrogryposis multiplex congenita 12.3
19 mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 12.3
20 arthrogryposis, mental retardation, and seizures 12.3
21 arthrogryposis, renal dysfunction, and cholestasis 1 12.3
22 arthrogryposis, distal, type 5d 12.3
23 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.2
24 malignant hyperthermia arthrogryposis torticollis 12.2
25 arthrogryposis, distal, type 3 12.1
26 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.1
27 arthrogryposis and ectodermal dysplasia 12.1
28 richieri-costa colletto otto syndrome 12.1
29 distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies 12.1
30 neuropathy, congenital, with arthrogryposis multiplex 12.1
31 illum syndrome 12.0
32 arthrogryposis multiplex with deafness, inguinal hernias, and early death 12.0
33 spondylohypoplasia, arthrogryposis and popliteal pterygium 12.0
34 arthrogryposis, congenital, lower limb, x-linked 12.0
35 minicore myopathy, antenatal onset, with arthrogryposis 11.9
36 pelvic dysplasia arthrogryposis of lower limbs 11.9
37 arthrogryposis with hyperkeratosis 11.9
38 pelvic hypoplasia with lower-limb arthrogryposis 11.9
39 arthrogryposis, distal, type 8 11.9
40 arthrogryposis, distal, type 2e 11.8
41 arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies 11.8
42 arthrogryposis, distal, with mental retardation and characteristic facies 11.8
43 arthrogryposis iugr thoracic dystrophy 11.8
44 arthrogryposis spinal muscular atrophy 11.8
45 craniofacial dysostosis arthrogryposis progeroid appearence 11.8
46 craniosynostosis arthrogryposis cleft palate 11.8
47 craniosynostosis cleft lip palate arthrogryposis 11.8
48 ectodermal dysplasia arthrogryposis diabetes mellitus 11.8
49 herrmann opitz arthrogryposis syndrome 11.8
50 overgrowth radial ray defect arthrogryposis 11.8

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



Diseases related to Distal Arthrogryposis

Symptoms & Phenotypes for Distal Arthrogryposis

UMLS symptoms related to Distal Arthrogryposis:


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

MGI Mouse Phenotypes related to Distal Arthrogryposis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.5 ACTA1 DOK7 ECEL1 FBN2 MYH6 SYNE1
2 respiratory system MP:0005388 9.17 DOK7 ECEL1 FBN2 MYH6 NALCN SYNE1

Drugs & Therapeutics for Distal Arthrogryposis

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2 Vasodilator Agents
3 Anti-Arrhythmia Agents
4 Neurotransmitter Agents
5 Analgesics
6 Peripheral Nervous System Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
2 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Not yet recruiting NCT01306994

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:

41
Bone, Brain, Liver, Heart, Placenta, Colon, Eye

Publications for Distal Arthrogryposis

Articles related to Distal Arthrogryposis:

(show top 50) (show all 361)
# Title Authors Year
1
Intrafamilial variability of clinical features in distal arthrogryposis type 2B. ( 30216196 )
2019
2
Arthrogryposis multiplex congenita in utero: radiologic and pathologic findings. ( 28954562 )
2019
3
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessiveA TNNT3A splice variant. ( 29266598 )
2018
4
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases. ( 29663639 )
2018
5
Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I. ( 30029526 )
2018
6
Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D. ( 30080694 )
2018
7
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. ( 30285720 )
2018
8
Case-matched comparative analysis of spinal deformity correction in arthrogryposis multiplex congenita versus adolescent idiopathic scoliosis. ( 30485184 )
2018
9
Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type. ( 28317099 )
2018
10
Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding. ( 29169929 )
2018
11
A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings. ( 29803542 )
2018
12
Validation of the Oswestry Disability Index for pain and disability in arthrogryposis multiplex congenita. ( 29894799 )
2018
13
Development of a research platform for children with arthrogryposis multiplex congenita: study protocol for a pilot registry. ( 29961027 )
2018
14
Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis. ( 28264711 )
2017
15
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. ( 27782104 )
2017
16
Treatment of Scoliosis Associated With Arthrogryposis Multiplex Congenita. ( 28594689 )
2017
17
Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia. ( 28213879 )
2017
18
Long-term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita. ( 28374968 )
2017
19
Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis. ( 27542115 )
2016
20
ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis. ( 26951213 )
2016
21
Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. ( 27790376 )
2016
22
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. ( 27974811 )
2016
23
Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. ( 27214504 )
2016
24
Characterization of a group unrelated patients with arthrogryposis multiplex congenita. ( 26453511 )
2016
25
A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle. ( 27364156 )
2016
26
Short-term results of early (before 6 months) open reduction of dislocated hips in arthrogryposis multiplex congenita. ( 27392301 )
2016
27
Improving arm function by prosthetic limb replacement in a patient with severe arthrogryposis multiplex congenita. ( 27534547 )
2016
28
Epidural anesthesia for labor pain and cesarean section in a parturient with arthrogryposis multiplex congenita. ( 27625508 )
2016
29
Correction: Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2. ( 25951182 )
2015
30
Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2. ( 25679999 )
2015
31
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. ( 26374086 )
2015
32
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. ( 25712306 )
2015
33
AMC: amyoplasia and distal arthrogryposis. ( 26537820 )
2015
34
Results of Primary Talectomy for Clubfoot in Infants and Toddlers with Arthrogryposis Multiplex Congenita. ( 26529813 )
2015
35
Maternal myasthenia gravis: a cause for arthrogryposis multiplex congenita. ( 26482518 )
2015
36
Arthrogryposis multiplex congenita-an update. ( 26482521 )
2015
37
Long-term outcome for patients with arthrogryposis multiplex congenita. ( 26499455 )
2015
38
Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures. ( 26604929 )
2015
39
Bilateral total hip replacement in arthrogryposis multiplex congenita. ( 26607193 )
2015
40
Treatment of Foot Deformities in Arthrogryposis Multiplex Congenita. ( 27490015 )
2015
41
Arthrogryposis Multiplex Congenita Related to Third-Trimester Basal Ganglia Ischemia: A Case Report. ( 28503588 )
2015
42
Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. ( 24782201 )
2014
43
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis. ( 25337069 )
2014
44
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. ( 25099528 )
2014
45
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. ( 24726473 )
2014
46
Fatal broncho-pneumonia of an infant with arthrogryposis multiplex congenita (AMC). ( 24657039 )
2014
47
Total hip and knee replacement in a patient with arthrogryposis multiplex congenita. ( 24730009 )
2014
48
Use of left ventricular assist device for cardiomyopathy associated with arthrogryposis multiplex congenita. ( 24973025 )
2014
49
Arthrogryposis multiplex congenita: airway concerns in an emergency situation. ( 25016514 )
2014
50
Walking ability in patients with arthrogryposis multiplex congenita. ( 25143649 )
2014

Variations for Distal Arthrogryposis

ClinVar genetic disease variations for Distal Arthrogryposis:

6 (show top 50) (show all 186)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNI2 NM_003282.3(TNNI2): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs104894312 GRCh37 Chromosome 11, 1862698: 1862698
2 TNNI2 NM_003282.3(TNNI2): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs104894312 GRCh38 Chromosome 11, 1841468: 1841468
3 TNNT3 NM_006757.3(TNNT3): c.414G> A (p.Glu138=) single nucleotide variant Likely benign rs2292470 GRCh37 Chromosome 11, 1955609: 1955609
4 TNNT3 NM_006757.3(TNNT3): c.414G> A (p.Glu138=) single nucleotide variant Likely benign rs2292470 GRCh38 Chromosome 11, 1934379: 1934379
5 TNNT3 NM_006757.3(TNNT3): c.636T> C (p.Ile212=) single nucleotide variant Benign/Likely benign rs16927166 GRCh37 Chromosome 11, 1956104: 1956104
6 TNNT3 NM_006757.3(TNNT3): c.636T> C (p.Ile212=) single nucleotide variant Benign/Likely benign rs16927166 GRCh38 Chromosome 11, 1934874: 1934874
7 TNNT3 NM_006757.3(TNNT3): c.762C> T (p.Gly254=) single nucleotide variant Benign/Likely benign rs4727 GRCh37 Chromosome 11, 1959707: 1959707
8 TNNT3 NM_006757.3(TNNT3): c.762C> T (p.Gly254=) single nucleotide variant Benign/Likely benign rs4727 GRCh38 Chromosome 11, 1938477: 1938477
9 TNNI2 NM_003282.3(TNNI2): c.60T> C (p.Ser20=) single nucleotide variant Benign/Likely benign rs907610 GRCh37 Chromosome 11, 1861760: 1861760
10 TNNI2 NM_003282.3(TNNI2): c.60T> C (p.Ser20=) single nucleotide variant Benign/Likely benign rs907610 GRCh38 Chromosome 11, 1840530: 1840530
11 MYBPC1 NM_002465.3(MYBPC1): c.1386A> T (p.Thr462=) single nucleotide variant Benign rs825045 GRCh37 Chromosome 12, 102045031: 102045031
12 MYBPC1 NM_002465.3(MYBPC1): c.1386A> T (p.Thr462=) single nucleotide variant Benign rs825045 GRCh38 Chromosome 12, 101651253: 101651253
13 MYBPC1 NM_002465.3(MYBPC1): c.1518C> G (p.His506Gln) single nucleotide variant Benign rs3817552 GRCh37 Chromosome 12, 102045163: 102045163
14 MYBPC1 NM_002465.3(MYBPC1): c.1518C> G (p.His506Gln) single nucleotide variant Benign rs3817552 GRCh38 Chromosome 12, 101651385: 101651385
15 MYBPC1 NM_002465.3(MYBPC1): c.2544T> C (p.Ile848=) single nucleotide variant Benign rs7139095 GRCh37 Chromosome 12, 102064118: 102064118
16 MYBPC1 NM_002465.3(MYBPC1): c.2544T> C (p.Ile848=) single nucleotide variant Benign rs7139095 GRCh38 Chromosome 12, 101670340: 101670340
17 MYBPC1 NM_002465.3(MYBPC1): c.2817A> G (p.Pro939=) single nucleotide variant Benign rs764291 GRCh37 Chromosome 12, 102069077: 102069077
18 MYBPC1 NM_002465.3(MYBPC1): c.2817A> G (p.Pro939=) single nucleotide variant Benign rs764291 GRCh38 Chromosome 12, 101675299: 101675299
19 MYBPC1 NM_002465.3(MYBPC1): c.556+10C> G single nucleotide variant Benign rs61935677 GRCh37 Chromosome 12, 102025926: 102025926
20 MYBPC1 NM_002465.3(MYBPC1): c.556+10C> G single nucleotide variant Benign rs61935677 GRCh38 Chromosome 12, 101632148: 101632148
21 MYBPC1 NM_002465.3(MYBPC1): c.774C> T (p.Asp258=) single nucleotide variant Benign rs2293468 GRCh37 Chromosome 12, 102036305: 102036305
22 MYBPC1 NM_002465.3(MYBPC1): c.774C> T (p.Asp258=) single nucleotide variant Benign rs2293468 GRCh38 Chromosome 12, 101642527: 101642527
23 MYBPC1 NM_002465.3(MYBPC1): c.594T> C (p.Ser198=) single nucleotide variant Likely benign rs79442861 GRCh37 Chromosome 12, 102028369: 102028369
24 MYBPC1 NM_002465.3(MYBPC1): c.594T> C (p.Ser198=) single nucleotide variant Likely benign rs79442861 GRCh38 Chromosome 12, 101634591: 101634591
25 MYBPC1 NM_002465.3(MYBPC1): c.608+9A> G single nucleotide variant Likely benign rs183524782 GRCh38 Chromosome 12, 101634614: 101634614
26 MYBPC1 NM_002465.3(MYBPC1): c.608+9A> G single nucleotide variant Likely benign rs183524782 GRCh37 Chromosome 12, 102028392: 102028392
27 MYH3 NM_002470.3(MYH3): c.1504T> G (p.Tyr502Asp) single nucleotide variant Likely pathogenic rs797045727 GRCh37 Chromosome 17, 10546220: 10546220
28 MYH3 NM_002470.3(MYH3): c.1504T> G (p.Tyr502Asp) single nucleotide variant Likely pathogenic rs797045727 GRCh38 Chromosome 17, 10642903: 10642903
29 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183delAGA (p.Glu2727del) deletion Pathogenic rs587777077 GRCh38 Chromosome 18, 10671603: 10671605
30 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183delAGA (p.Glu2727del) deletion Pathogenic rs587777077 GRCh37 Chromosome 18, 10671600: 10671602
31 TNNT3 NM_006757.3(TNNT3): c.367-9T> C single nucleotide variant Benign/Likely benign rs76471485 GRCh38 Chromosome 11, 1934323: 1934323
32 TNNT3 NM_006757.3(TNNT3): c.367-9T> C single nucleotide variant Benign/Likely benign rs76471485 GRCh37 Chromosome 11, 1955553: 1955553
33 TNNT3 NM_006757.3(TNNT3): c.723-15G> C single nucleotide variant Likely benign rs143255528 GRCh38 Chromosome 11, 1938423: 1938423
34 TNNT3 NM_006757.3(TNNT3): c.723-15G> C single nucleotide variant Likely benign rs143255528 GRCh37 Chromosome 11, 1959653: 1959653
35 TNNT3 NM_006757.3(TNNT3): c.*36C> T single nucleotide variant Likely benign rs147535560 GRCh38 Chromosome 11, 1938528: 1938528
36 TNNT3 NM_006757.3(TNNT3): c.*36C> T single nucleotide variant Likely benign rs147535560 GRCh37 Chromosome 11, 1959758: 1959758
37 MYBPC1 NM_002465.3(MYBPC1): c.26-9C> T single nucleotide variant Benign/Likely benign rs181619118 GRCh38 Chromosome 12, 101614487: 101614487
38 MYBPC1 NM_002465.3(MYBPC1): c.26-9C> T single nucleotide variant Benign/Likely benign rs181619118 GRCh37 Chromosome 12, 102008265: 102008265
39 MYBPC1 NM_002465.3(MYBPC1): c.420C> T (p.Thr140=) single nucleotide variant Likely benign rs140667525 GRCh38 Chromosome 12, 101631701: 101631701
40 MYBPC1 NM_002465.3(MYBPC1): c.420C> T (p.Thr140=) single nucleotide variant Likely benign rs140667525 GRCh37 Chromosome 12, 102025479: 102025479
41 MYBPC1 NM_002465.3(MYBPC1): c.2809+12T> C single nucleotide variant Benign rs11110952 GRCh37 Chromosome 12, 102067412: 102067412
42 MYBPC1 NM_002465.3(MYBPC1): c.2809+12T> C single nucleotide variant Benign rs11110952 GRCh38 Chromosome 12, 101673634: 101673634
43 TNNI2 NM_003282.3(TNNI2): c.54G> C (p.Leu18=) single nucleotide variant Conflicting interpretations of pathogenicity rs181679318 GRCh37 Chromosome 11, 1861671: 1861671
44 TNNI2 NM_003282.3(TNNI2): c.54G> C (p.Leu18=) single nucleotide variant Conflicting interpretations of pathogenicity rs181679318 GRCh38 Chromosome 11, 1840441: 1840441
45 TNNI2 NM_003282.3(TNNI2): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs778403065 GRCh37 Chromosome 11, 1861849: 1861849
46 TNNI2 NM_003282.3(TNNI2): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs778403065 GRCh38 Chromosome 11, 1840619: 1840619
47 TNNI2 NM_003282.3(TNNI2): c.276+15C> T single nucleotide variant Uncertain significance rs200628572 GRCh37 Chromosome 11, 1862153: 1862153
48 TNNI2 NM_003282.3(TNNI2): c.276+15C> T single nucleotide variant Uncertain significance rs200628572 GRCh38 Chromosome 11, 1840923: 1840923
49 TNNI2 NM_003282.3(TNNI2): c.*94C> T single nucleotide variant Likely benign rs117830156 GRCh37 Chromosome 11, 1862875: 1862875
50 TNNI2 NM_003282.3(TNNI2): c.*94C> T single nucleotide variant Likely benign rs117830156 GRCh38 Chromosome 11, 1841645: 1841645

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:

37
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260
2 Tight junction hsa04530

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 ACTA1 FBN2 MYH3 MYH6 MYH8 TGFB3
2
Show member pathways
12.59 ACTA1 MYH3 MYH6 MYH8 TGFB3
3
Show member pathways
12.34 MYBPC1 MYBPC2 MYH3 MYH6 MYH8 TNNC2
4
Show member pathways
12.29 ACTA1 MYH3 MYH6 MYH8
5
Show member pathways
12 ACTA1 MYH3 MYH6 MYH8
6
Show member pathways
11.91 MYH6 TGFB3 TPM2
7
Show member pathways
11.87 ACTA1 FBN2 MYH3 MYH6 MYH8
8 11.23 MYH3 MYH6 MYH8
9 11.18 ACTA1 MYBPC1 MYBPC2 MYH3 MYH6 MYH8
10 11 ACTA1 MYH3 MYH6 MYH8
11 10.78 MYH3 MYH6 MYH8

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 Z disc GO:0030018 9.61 MYBPC1 MYBPC2 MYH6
2 myosin complex GO:0016459 9.58 MYH3 MYH6 MYH8
3 striated muscle thin filament GO:0005865 9.54 ACTA1 MYBPC1 MYBPC2
4 muscle myosin complex GO:0005859 9.5 MYH3 MYH6 MYH8
5 M band GO:0031430 9.46 MYBPC1 MYBPC2
6 myofibril GO:0030016 9.46 MYBPC1 MYH3 MYH6 MYH8
7 troponin complex GO:0005861 9.43 TNNC2 TNNI2 TNNT3
8 myosin filament GO:0032982 9.35 MYBPC1 MYBPC2 MYH3 MYH6 MYH8
9 sarcomere GO:0030017 9.17 ACTA1 MYBPC1 MYBPC2 MYH3 MYH6 MYH8

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.65 MYH6 TNNI2 TNNT3
2 sarcomere organization GO:0045214 9.65 MYBPC1 MYBPC2 MYH3 MYH6 TNNT3
3 ATP metabolic process GO:0046034 9.63 MYH3 MYH6 MYH8
4 regulation of muscle contraction GO:0006937 9.61 TNNC2 TNNI2 TNNT3
5 cardiac muscle fiber development GO:0048739 9.58 MYBPC1 MYBPC2 MYH6
6 positive regulation of bone mineralization GO:0030501 9.56 FBN2 TGFB3
7 muscle contraction GO:0006936 9.56 ACTA1 MYBPC1 MYBPC2 MYH6 MYH8 TNNI2
8 face morphogenesis GO:0060325 9.55 MYH3 TGFB3
9 skeletal muscle contraction GO:0003009 9.55 MYH3 MYH8 TNNC2 TNNI2 TNNT3
10 actin filament-based movement GO:0030048 9.54 MYH3 MYH6
11 skeletal muscle thin filament assembly GO:0030240 9.54 ACTA1 MYBPC1 MYBPC2
12 cardiac muscle tissue morphogenesis GO:0055008 9.52 MYBPC1 MYBPC2
13 cardiac myofibril assembly GO:0055003 9.51 MYBPC1 MYBPC2
14 regulation of ATPase activity GO:0043462 9.5 MYH6 TNNT3 TPM2
15 skeletal muscle myosin thick filament assembly GO:0030241 9.49 MYBPC1 MYBPC2
16 muscle filament sliding GO:0030049 9.32 ACTA1 MYBPC1 MYBPC2 MYH3 MYH6 MYH8

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

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.63 MYH3 MYH6 MYH8
2 structural constituent of muscle GO:0008307 9.56 MYBPC1 MYBPC2 MYH8 TPM2
3 actin binding GO:0003779 9.56 MYH3 MYH6 MYH8 SYNE1 TNNC2 TNNI2
4 motor activity GO:0003774 9.54 MYH3 MYH6 MYH8
5 microfilament motor activity GO:0000146 9.5 MYH3 MYH6 MYH8
6 cation channel activity GO:0005261 9.43 NALCN PIEZO2
7 muscle alpha-actinin binding GO:0051371 9.4 MYBPC1 MYBPC2
8 myosin phosphatase activity GO:0017018 9.33 MYH3 MYH6 MYH8
9 actin filament binding GO:0051015 9.23 MYBPC1 MYBPC2 MYH3 MYH6 MYH8 SYNE1

Sources for Distal Arthrogryposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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