FSS
MCID: DST002
MIFTS: 56

Distal Arthrogryposis (FSS) malady

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

Aliases & Classifications for Distal Arthrogryposis

Aliases & Descriptions 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 marden-walker syndrome and arthrogryposis multiplex congenita, neurogenic type, and has symptoms including scoliosis, depressed nasal ridge and polyhydramnios. An important gene associated with Distal Arthrogryposis is ADGRG6 (Adhesion G Protein-Coupled Receptor G6), 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.

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 67)
id Related Disease Score Top Affiliating Genes
1 marden-walker syndrome 29.9 MYH3 PIEZO2 TNNI2 TNNT3 TPM2
2 arthrogryposis multiplex congenita, neurogenic type 12.5
3 tnnt3-related arthrogryposis multiplex congenita, distal, type 2b 12.3
4 tpm2-related arthrogryposis multiplex congenita, distal, type 2b 12.3
5 myh3-related arthrogryposis multiplex congenita, distal, type 2b 12.3
6 tnni2-related arthrogryposis multiplex congenita, distal, type 2b 12.3
7 whistling face syndrome, recessive form 12.0
8 arthrogryposis multiplex congenita, distal, type 1 11.8
9 richieri-costa colletto otto syndrome 11.8
10 distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies 11.8
11 arthrogryposis, distal, type 5 11.8
12 arthrogryposis, distal, type 5d 11.8
13 arthrogryposis, distal, type 2b 11.7
14 arthrogryposis, distal, type 3 11.6
15 arthrogryposis, distal, type 4 11.6
16 trismus-pseudocamptodactyly syndrome 11.6
17 contractural arachnodactyly, congenital 11.5
18 arthrogryposis, distal, type 8 11.5
19 arthrogryposis-like hand anomaly and sensorineural deafness 11.5
20 arthrogryposis, distal, type 6 11.5
21 pseudohypoaldosteronism, type iie 11.4
22 fetal akinesia deformation sequence 11.3
23 illum syndrome 11.0
24 arthrogryposis, distal, type 1b 11.0
25 arthrogryposis, distal, type 2a 11.0
26 spinal muscular atrophy, x-linked 2, infantile 10.8
27 arthrogryposis, distal, type 10 10.8
28 musculocontractural ehlers-danlos syndrome 10.8
29 arthrogryposis, distal, with impaired proprioception and touch 10.8
30 osteogenesis imperfecta, type xvi 10.2 MYBPC1 MYBPC2
31 dyslexia 6 10.2 FBN2 PIEZO2
32 cardiac rupture 10.2 ACTA1 TPM2
33 benign hypertensive renal disease 10.2 ECEL1 TNNI2 TNNT3
34 chondrodysplasia calcificans metaphysealis 10.2 ACTA1 TPM2
35 cholesteatoma of middle ear 10.2 TNNI2 TNNT3
36 undifferentiated pleomorphic sarcoma 10.2 ACTA1 TPM2
37 nephrotic syndrome 10.1 MYBPC1 MYH3 TNNT3 TPM2
38 microcephaly and chorioretinopathy 2 10.1 ACTA1 TNNI2 TNNT3 TPM2
39 congenital extrahepatic portosystemic shunt 10.0 NALCN TNNT3
40 congenital disorder of glycosylation, type iid 10.0 MYH3 NALCN TNNI2 TNNT3 TPM2
41 urinary bladder villous adenoma 10.0 ECEL1 NALCN TUBB3
42 ehlers-danlos syndrome, classic type, col1a1-related 10.0 DOK7 RAPSN
43 spinal disease 10.0 ADGRG6 ZBTB42
44 retinal dystrophy, early-onset, and pituitary dysfunction 10.0 DOK7 RAPSN
45 myopathy 9.9
46 peroxisome biogenesis disorder 8a, 9.9 DOK7 RAPSN
47 hydronephrosis 9.9
48 nemaline myopathy 4, autosomal dominant 9.8 ADGRG6 MYBPC1 MYH3 NALCN TNNI2 TNNT3
49 clubfoot 9.7
50 velocardiofacial syndrome 9.7

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

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 9.93 ACTA1 ADGRG6 DOK7 ECEL1 FBN2 MYH6
2 muscle MP:0005369 9.56 FBN2 MYH6 RAPSN TNNT3 ACTA1 ADGRG6
3 respiratory system MP:0005388 9.17 DOK7 ECEL1 FBN2 NALCN RAPSN TGFB3

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 Neurotransmitter Agents
5 Peripheral Nervous System Agents
6 Vasodilator Agents
7 Anti-Arrhythmia Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effects of Power Mobility on Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
2 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
3 WREX Outcome Study Unknown status NCT02218593
4 Movement Enhancing Device for Children Completed NCT01959581
5 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
6 Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing Recruiting NCT03065686
7 Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions Terminated NCT01307475

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 90)
id Title Authors Year
1
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. ( 27782104 )
2017
2
Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. ( 27214504 )
2016
3
ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis. ( 26951213 )
2016
4
Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis. ( 27542115 )
2016
5
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. ( 27974811 )
2016
6
Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. ( 27790376 )
2016
7
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. ( 25712306 )
2015
8
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
9
AMC: amyoplasia and distal arthrogryposis. ( 26537820 )
2015
10
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. ( 26374086 )
2015
11
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
12
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis. ( 25337069 )
2014
13
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. ( 25099528 )
2014
14
Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. ( 24782201 )
2014
15
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. ( 24726473 )
2014
16
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. ( 23829171 )
2013
17
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. ( 23236030 )
2013
18
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. ( 23487782 )
2013
19
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. ( 23657818 )
2013
20
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. ( 23401156 )
2013
21
Mutations in ECEL1 cause distal arthrogryposis type 5D. ( 23261301 )
2013
22
Corneal Impairment in a Patient With Type 2 Distal Arthrogryposis. ( 24296953 )
2013
23
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
24
Distal arthrogryposis: clinical and genetic findings. ( 22519952 )
2012
25
A de novo 1.13A Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism. ( 22534424 )
2012
26
7A Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). ( 21722758 )
2011
27
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. ( 21531865 )
2011
28
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
29
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. ( 20045868 )
2010
30
Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5. ( 19213027 )
2009
31
Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report. ( 20090872 )
2009
32
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. ( 18695058 )
2008
33
Early results of the Ponseti method for the treatment of clubfoot in distal arthrogryposis. ( 18594099 )
2008
34
Distal arthrogryposis syndrome. ( 20300297 )
2008
35
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. ( 17380469 )
2007
36
Pulmonary disease is a component of distal arthrogryposis type 5. ( 17345626 )
2007
37
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. ( 17194691 )
2007
38
Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound. ( 17385787 )
2007
39
Bilateral discoid medial menisci accompanied by distal arthrogryposis: a case report. ( 16983564 )
2007
40
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. ( 17339586 )
2007
41
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. ( 16924011 )
2006
42
Mitochondrial mutation in a child with distal arthrogryposis. ( 16353243 )
2006
43
A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. ( 16802141 )
2006
44
A TNNI2 mutation in a family with distal arthrogryposis type 2B. ( 16497570 )
2006
45
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. ( 17103435 )
2006
46
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. ( 17101001 )
2006
47
Distal arthrogryposis type 2A may be associated with juvenile glaucoma. ( 16278894 )
2005
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
Velocardiofacial syndrome presenting as distal arthrogryposis. ( 15346917 )
2004
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 17)
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 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

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 9.62 MYBPC1 MYBPC2 MYH6 SMN1
2 sarcomere GO:0030017 9.56 ACTA1 MYH3 MYH6 MYH8
3 myosin complex GO:0016459 9.54 MYH3 MYH6 MYH8
4 myofibril GO:0030016 9.46 MYBPC1 MYH3 MYH6 MYH8
5 troponin complex GO:0005861 9.4 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 regulation of muscle contraction GO:0006937 9.48 TNNI2 TNNT3
7 skeletal muscle contraction GO:0003009 9.46 MYH3 MYH8 TNNI2 TNNT3
8 striated muscle myosin thick filament assembly GO:0071688 9.43 MYBPC1 MYBPC2
9 muscle contraction GO:0006936 9.43 ACTA1 MYBPC1 MYBPC2 MYH6 MYH8 TPM2
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 9.73 MYH3 MYH6 MYH8 TNNI2 TNNT3 TPM2
2 motor activity GO:0003774 9.58 MYH3 MYH6 MYH8
3 actin filament binding GO:0051015 9.55 MYBPC1 MYBPC2 MYH3 MYH8 TPM2
4 microfilament motor activity GO:0000146 9.5 MYH3 MYH6 MYH8
5 muscle alpha-actinin binding GO:0051371 9.43 MYBPC1 MYBPC2
6 structural molecule activity conferring elasticity GO:0097493 9.37 MYBPC1 MYBPC2
7 structural constituent of muscle GO:0008307 9.26 MYBPC1 MYBPC2 MYH8 TPM2
8 myosin phosphatase activity GO:0017018 8.8 MYH3 MYH6 MYH8

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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