MCID: DST002
MIFTS: 57

Distal Arthrogryposis

Categories: Rare diseases, Fetal diseases, Muscle diseases, Genetic diseases, Ear diseases

Aliases & Classifications for Distal Arthrogryposis

MalaCards integrated aliases for Distal Arthrogryposis:

Name: Distal Arthrogryposis 12 50 29 14
Freeman-Sheldon Syndrome 12 24 25 56 69
Craniocarpotarsal Dysplasia 50 24 25 56
Arthrogryposis Multiplex Congenita 12 50 29
Distal Arthrogryposis Type 2a 50 24 56
Craniocarpotarsal Dystrophy 50 25 56
Whistling Face Syndrome 24 25 56
Arthrogryposis 50 52 69
Da2a 50 24 25
Whistling Face-Windmill Vane Hand Syndrome 50 25
Freeman-Sheldon Syndrome Variant 12 50
Sheldon-Hall Syndrome 12 50
Fss 50 25
Arthrogryposis Multiplex Congenita Distal Type Ii with Craniofacial Abnormalities 50
Arthrogryposis Multiplex Congenita Distal Type 2b 50
Arthrogryposis Multiplex Congenita Distal 50
Fibrous Ankylosis of Multiple Joints 50
Congenital Multiple Arthrogryposis 50
Freeman Sheldon Syndrome, Variant 50
Arthrogryposis, Distal, Type 2b 69
Myodystrophia Fetalis Deformans 50
Distal Arthrogryposis Type Iib 50
Distal Arthrogryposis, Type 2a 25
Distal Arthrogryposis Syndrome 69
Congenital Arthromyodysplasia 50
Arthrogryposis Distal Type 2a 50
Distal Arthrogryposis Type 2b 50
Freeman Sheldon Syndrome 50
Rocher-Sheldon Syndrome 50
Freeman Sheldon Variant 50
Guerin-Stern Syndrome 50
Guérin-Stern Syndrome 50
Rossi Syndrome 50
Otto Syndrome 50
Da2b 50

Characteristics:

Orphanet epidemiological data:

56
freeman-sheldon syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050646
Orphanet 56 ORPHA2053
MESH via Orphanet 43 C535483
UMLS via Orphanet 70 C0265224
ICD10 via Orphanet 34 Q87.0
ICD10 33 Q74.3

Summaries for Distal Arthrogryposis

NIH Rare Diseases : 50 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. last updated: 1/12/2015

MalaCards based summary : Distal Arthrogryposis, also known as freeman-sheldon syndrome, is related to arthrogryposis, distal, type 3 and arthrogryposis, distal, type 2b, and has symptoms including scoliosis, polyhydramnios and depressed nasal ridge. An important gene associated with Distal Arthrogryposis is MYH3 (Myosin Heavy Chain 3), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cardiac conduction. The drugs Adenosine and Menthol have been mentioned in the context of this disorder. Affiliated tissues include lung, eye and skeletal muscle, and related phenotypes are mortality/aging and muscle

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

Wikipedia : 72 Arthrogryposis multiplex congenital (AMC), or simply arthrogryposes, describes congenital joint... more...

Related Diseases for Distal Arthrogryposis

Diseases in the Distal Arthrogryposis family:

Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b Arthrogryposis, Distal, Type 1b
Arthrogryposis, Distal, Type 2a Arthrogryposis, Distal, Type 8
Arthrogryposis, Distal, Type 5 Arthrogryposis, Distal, Type 3
Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 4

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

(show top 50) (show all 69)
id Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 3 33.3 MYH3 PIEZO2 TNNI2 TNNT3 TPM2
2 arthrogryposis, distal, type 2b 32.5 ADGRG6 MYBPC1 MYH3 NALCN RYR1 TNNI2
3 arthrogryposis, distal, with impaired proprioception and touch 32.4 FBN2 PIEZO2
4 neurogenic arthrogryposis multiplex congenita 12.6
5 arthrogryposis multiplex congenita, neurogenic, with myelin defect 12.4
6 arthrogryposis multiplex congenita whistling face 12.4
7 myh3-related arthrogryposis multiplex congenita, distal, type 2b 12.3
8 tnni2-related arthrogryposis multiplex congenita, distal, type 2b 12.3
9 tnnt3-related arthrogryposis multiplex congenita, distal, type 2b 12.3
10 tpm2-related arthrogryposis multiplex congenita, distal, type 2b 12.3
11 autosomal recessive myogenic arthrogryposis multiplex congenita 12.3
12 whistling face syndrome, recessive form 12.0
13 arthrogryposis multiplex congenita, distal, type 1 11.8
14 richieri-costa colletto otto syndrome 11.8
15 distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies 11.8
16 arthrogryposis, distal, type 5 11.8
17 arthrogryposis, distal, type 5d 11.8
18 arthrogryposis, distal, type 4 11.6
19 arthrogryposis, distal, type 8 11.6
20 trismus-pseudocamptodactyly syndrome 11.6
21 contractural arachnodactyly, congenital 11.5
22 arthrogryposis, distal, type 6 11.5
23 arthrogryposis-like hand anomaly and sensorineural deafness 11.5
24 spinal muscular atrophy, x-linked 2, infantile 11.4
25 pseudohypoaldosteronism, type iie 11.4
26 fetal akinesia deformation sequence 11.3
27 arthrogryposis, distal, type 2a 10.9
28 illum syndrome 10.9
29 arthrogryposis, distal, type 1b 10.9
30 arthrogryposis, distal, type 10 10.8
31 musculocontractural ehlers-danlos syndrome 10.8
32 ulerythema ophryogenesis 10.8 ACTA1 TPM2
33 chitayat meunier hodgkinson syndrome 10.8 ACTA1 TPM2
34 benign hypertensive renal disease 10.8 ECEL1 TNNI2 TNNT3
35 left ventricular noncompaction 10 10.7 MYBPC1 MYBPC2
36 nephrotic syndrome 10.7 MYBPC1 MYH3 TNNT3 TPM2
37 3p- syndrome 10.6 MYH3 RYR1 TPM2
38 uterine corpus endometrial stromal sarcoma 10.6 ACTA1 RYR1 TPM2
39 congenital cystic eye multiple ocular and intracranial anomalies 10.6 NALCN RYR1 TNNT3
40 carcinoid tumor childhood 10.6 ACTA1 TPM2
41 nemaline myopathy 4, autosomal dominant 10.5 MYH3 NALCN TNNI2 TNNT3 TPM2
42 cholesteatoma of attic 10.5 TNNI2 TNNT3
43 paget's disease of bone 10.5 ECEL1 NALCN TUBB3
44 mesomelic dysplasia, kantaputra type 10.4 RAPSN RYR1
45 microcephaly and chorioretinopathy 1 10.4 ACTA1 RYR1 TNNI2 TNNT3 TPM2
46 pancreatic acinar cell adenocarcinoma 10.3 RAPSN SMN1 TUBB3
47 porencephaly 10.3 ECEL1 RAPSN RYR1 TUBB3
48 myopathy, congenital, with fiber-type disproportion 10.2 ACTA1 RYR1
49 myopathy 9.9
50 marden-walker syndrome 9.9

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:

56 32 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
2 polyhydramnios 56 32 hallmark (90%) Occasional (29-5%) HP:0001561
3 depressed nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000457
4 ulnar deviation of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009465
5 short stature 56 Frequent (79-30%)
6 failure to thrive 56 Very frequent (99-80%)
7 strabismus 56 Frequent (79-30%)
8 ptosis 56 Frequent (79-30%)
9 hypertelorism 56 Very frequent (99-80%)
10 hernia 56 Occasional (29-5%)
11 arthrogryposis multiplex congenita 32 hallmark (90%) HP:0002804
12 hip dislocation 32 hallmark (90%) HP:0002827
13 cryptorchidism 56 Frequent (79-30%)
14 talipes equinovarus 56 Very frequent (99-80%)
15 long philtrum 56 Frequent (79-30%)
16 wide nasal bridge 56 Very frequent (99-80%)
17 joint stiffness 56 Very frequent (99-80%)
18 oligohydramnios 56 Occasional (29-5%)
19 downslanted palpebral fissures 56 Very frequent (99-80%)
20 low-set, posteriorly rotated ears 32 hallmark (90%) HP:0000368
21 feeding difficulties in infancy 56 Very frequent (99-80%)
22 nasal speech 56 Frequent (79-30%)
23 malignant hyperthermia 56 Frequent (79-30%)
24 talipes 32 hallmark (90%) HP:0001883
25 lymphedema 32 hallmark (90%) HP:0001004
26 congenital diaphragmatic hernia 32 hallmark (90%) HP:0000776
27 chin dimple 56 Very frequent (99-80%)
28 hearing impairment 56 Frequent (79-30%)
29 growth delay 56 Very frequent (99-80%)
30 narrow mouth 56 Very frequent (99-80%)
31 gastroschisis 32 hallmark (90%) HP:0001543
32 neurological speech impairment 56 Frequent (79-30%)
33 abnormality of the teeth 56 Very frequent (99-80%)
34 abnormality of the pleura 32 hallmark (90%) HP:0002103
35 underdeveloped nasal alae 56 Very frequent (99-80%)
36 deeply set eye 56 Frequent (79-30%)
37 abnormality of the gastric mucosa 32 hallmark (90%) HP:0004295
38 camptodactyly of finger 56 Very frequent (99-80%)
39 prenatal movement abnormality 56 Frequent (79-30%)
40 aplasia/hypoplasia of the lungs 32 hallmark (90%) HP:0006703
41 absent palmar crease 56 Occasional (29-5%)
42 abnormality of the wrist 32 hallmark (90%) HP:0003019

UMLS symptoms related to Distal Arthrogryposis:


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

MGI Mouse Phenotypes related to Distal Arthrogryposis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.07 ECEL1 FBN2 MYH6 NALCN RAPSN RYR1
2 muscle MP:0005369 9.81 ACTA1 ADGRG6 ECEL1 FBN2 MYH6 RAPSN
3 respiratory system MP:0005388 9.56 ECEL1 FBN2 NALCN RAPSN RYR1 SYNE1
4 skeleton MP:0005390 9.23 ACTA1 ADGRG6 ECEL1 FBN2 RYR1 SYNE1

Drugs & Therapeutics for Distal Arthrogryposis

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2
Menthol Approved 2216-51-5 16666
3 Analgesics
4 Anti-Arrhythmia Agents
5 Neurotransmitter Agents
6 Peripheral Nervous System Agents
7 Vasodilator Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
2 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741

Search NIH Clinical Center for Distal Arthrogryposis

Genetic Tests for Distal Arthrogryposis

Genetic tests related to Distal Arthrogryposis:

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

Anatomical Context for Distal Arthrogryposis

MalaCards organs/tissues related to Distal Arthrogryposis:

39
Lung, Eye, Skeletal Muscle, Testis

Publications for Distal Arthrogryposis

Articles related to Distal Arthrogryposis:

(show top 50) (show all 91)
id Title Authors Year
1
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
2
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. ( 27782104 )
2017
3
ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis. ( 26951213 )
2016
4
Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. ( 27214504 )
2016
5
Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis. ( 27542115 )
2016
6
Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. ( 27790376 )
2016
7
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. ( 27974811 )
2016
8
AMC: amyoplasia and distal arthrogryposis. ( 26537820 )
2015
9
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
10
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
11
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. ( 26374086 )
2015
12
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. ( 25712306 )
2015
13
Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. ( 24782201 )
2014
14
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis. ( 25337069 )
2014
15
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. ( 24726473 )
2014
16
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. ( 25099528 )
2014
17
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. ( 23401156 )
2013
18
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. ( 23829171 )
2013
19
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. ( 23824657 )
2013
20
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. ( 23657818 )
2013
21
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. ( 23487782 )
2013
22
Corneal Impairment in a Patient With Type 2 Distal Arthrogryposis. ( 24296953 )
2013
23
Mutations in ECEL1 cause distal arthrogryposis type 5D. ( 23261301 )
2013
24
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. ( 23236030 )
2013
25
A de novo 1.13A Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism. ( 22534424 )
2012
26
Distal arthrogryposis: clinical and genetic findings. ( 22519952 )
2012
27
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. ( 21531865 )
2011
28
7A Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). ( 21722758 )
2011
29
Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis. ( 20420026 )
2010
30
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. ( 20045868 )
2010
31
Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report. ( 20090872 )
2009
32
Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5. ( 19213027 )
2009
33
Distal arthrogryposis syndrome. ( 20300297 )
2008
34
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. ( 18695058 )
2008
35
Early results of the Ponseti method for the treatment of clubfoot in distal arthrogryposis. ( 18594099 )
2008
36
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. ( 17194691 )
2007
37
Bilateral discoid medial menisci accompanied by distal arthrogryposis: a case report. ( 16983564 )
2007
38
Pulmonary disease is a component of distal arthrogryposis type 5. ( 17345626 )
2007
39
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. ( 17380469 )
2007
40
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. ( 17339586 )
2007
41
Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound. ( 17385787 )
2007
42
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. ( 16924011 )
2006
43
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. ( 17101001 )
2006
44
A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. ( 16802141 )
2006
45
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. ( 17103435 )
2006
46
A TNNI2 mutation in a family with distal arthrogryposis type 2B. ( 16497570 )
2006
47
Mitochondrial mutation in a child with distal arthrogryposis. ( 16353243 )
2006
48
Re: distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.]. ( 16001435 )
2005
49
Distal arthrogryposis type 2A may be associated with juvenile glaucoma. ( 16278894 )
2005
50
Distal arthrogryposis in two sisters born to different fathers. ( 14755476 )
2004

Variations for Distal Arthrogryposis

ClinVar genetic disease variations for Distal Arthrogryposis:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 TNNT3 NM_006757.3(TNNT3): c.188G> A (p.Arg63His) single nucleotide variant Pathogenic rs121434638 GRCh37 Chromosome 11, 1954967: 1954967
2 TNNI2 NM_003282.3(TNNI2): c.521G> A (p.Arg174Gln) single nucleotide variant Pathogenic rs104894311 GRCh37 Chromosome 11, 1862753: 1862753
3 TNNI2 NM_003282.3(TNNI2): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs104894312 GRCh37 Chromosome 11, 1862698: 1862698
4 TNNI2 NM_003282.3(TNNI2): c.499_501delGAG (p.Glu167del) deletion Pathogenic rs199474800 GRCh37 Chromosome 11, 1862731: 1862733
5 TPM2 NM_003289.3(TPM2): c.397C> T (p.Arg133Trp) single nucleotide variant Pathogenic rs137853305 GRCh37 Chromosome 9, 35685526: 35685526
6 MYH3 NM_002470.3(MYH3): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs121913617 GRCh37 Chromosome 17, 10544634: 10544634
7 MYH3 NM_002470.3(MYH3): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs121913618 GRCh37 Chromosome 17, 10544635: 10544635
8 MYH3 NM_002470.3(MYH3): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs121913619 GRCh37 Chromosome 17, 10553691: 10553691
9 MYH3 NM_002470.3(MYH3): c.2474T> A (p.Val825Asp) single nucleotide variant Pathogenic rs121913620 GRCh37 Chromosome 17, 10543521: 10543521
10 MYH3 NM_002470.3(MYH3): c.2590_2592delCTC (p.Leu864del) deletion Pathogenic rs879255230 GRCh37 Chromosome 17, 10543403: 10543405
11 MYH3 NM_002470.3(MYH3): c.1123G> A (p.Glu375Lys) single nucleotide variant Pathogenic rs121913621 GRCh37 Chromosome 17, 10549042: 10549042
12 MYH3 NM_002470.3(MYH3): c.1385A> G (p.Asp462Gly) single nucleotide variant Pathogenic rs121913622 GRCh37 Chromosome 17, 10547693: 10547693
13 MYH3 NM_002470.3(MYH3): c.700G> A (p.Ala234Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121913623 GRCh37 Chromosome 17, 10551909: 10551909
14 ADGRG6 NM_198569.2(ADGRG6): c.19C> T (p.Arg7Ter) single nucleotide variant Pathogenic rs749355583 GRCh37 Chromosome 6, 142630697: 142630697
15 ADGRG6 NM_020455.5(ADGRG6): c.2144dupG (p.Gln716Thrfs) duplication Pathogenic rs793888524 GRCh37 Chromosome 6, 142726841: 142726841
16 ADGRG6 NM_198569.2(ADGRG6): c.2306T> A (p.Val769Glu) single nucleotide variant Pathogenic rs793888525 GRCh37 Chromosome 6, 142729324: 142729324
17 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183delAGA (p.Glu2727del) deletion Pathogenic rs587777077 GRCh37 Chromosome 18, 10671600: 10671602
18 RYR1 NM_000540.2(RYR1): c.10620C> G (p.Tyr3540Ter) single nucleotide variant Pathogenic rs758247804 GRCh38 Chromosome 19, 38525496: 38525496

Expression for Distal Arthrogryposis

Search GEO for disease gene expression data for Distal Arthrogryposis.

Pathways for Distal Arthrogryposis

GO Terms for Distal Arthrogryposis

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

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.58 MYBPC1 MYBPC2 SMN1
2 myofibril GO:0030016 9.56 MYBPC1 MYH3 MYH6 MYH8
3 sarcomere GO:0030017 9.55 ACTA1 MYH3 MYH6 MYH8 SYNE1
4 myosin complex GO:0016459 9.5 MYH3 MYH6 MYH8
5 troponin complex GO:0005861 9.37 TNNI2 TNNT3
6 muscle myosin complex GO:0005859 9.35 MYBPC1 MYBPC2 MYH3 MYH6 MYH8
7 myosin filament GO:0032982 9.02 MYBPC1 MYBPC2 MYH3 MYH6 MYH8

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

id Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.63 MYBPC1 MYBPC2 TPM2
2 ATP metabolic process GO:0046034 9.58 MYH3 MYH6 MYH8
3 sarcomere organization GO:0045214 9.56 MYBPC1 MYBPC2 MYH3 MYH6
4 striated muscle contraction GO:0006941 9.54 MYBPC1 MYBPC2 MYH6
5 regulation of ATPase activity GO:0043462 9.5 MYH6 TNNT3 TPM2
6 muscle contraction GO:0006936 9.5 ACTA1 MYBPC1 MYBPC2 MYH6 MYH8 RYR1
7 regulation of muscle contraction GO:0006937 9.48 TNNI2 TNNT3
8 skeletal muscle contraction GO:0003009 9.46 MYH3 MYH8 TNNI2 TNNT3
9 striated muscle myosin thick filament assembly GO:0071688 9.43 MYBPC1 MYBPC2
10 muscle filament sliding GO:0030049 9.28 ACTA1 MYBPC1 MYBPC2 MYH3 MYH6 MYH8

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

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.7 MYH3 MYH6 MYH8 SYNE1 TNNI2 TNNT3
2 calmodulin binding GO:0005516 9.67 MYH3 MYH6 MYH8 RYR1
3 motor activity GO:0003774 9.61 MYH3 MYH6 MYH8
4 structural constituent of muscle GO:0008307 9.56 MYBPC1 MYBPC2 MYH8 TPM2
5 microfilament motor activity GO:0000146 9.5 MYH3 MYH6 MYH8
6 muscle alpha-actinin binding GO:0051371 9.46 MYBPC1 MYBPC2
7 structural molecule activity conferring elasticity GO:0097493 9.4 MYBPC1 MYBPC2
8 myosin phosphatase activity GO:0017018 9.13 MYH3 MYH6 MYH8
9 actin filament binding GO:0051015 9.1 MYBPC1 MYBPC2 MYH3 MYH8 SYNE1 TPM2

Sources for Distal Arthrogryposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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