MCID: DST002
MIFTS: 58

Distal Arthrogryposis malady

Genetic diseases, Rare diseases, Fetal diseases, Muscle diseases categories

Aliases & Classifications for Distal Arthrogryposis

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Sources:
60UMLS, 9Disease Ontology, 11DISEASES, 22GTR, 47Orphanet, 41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 20GeneTests, 26ICD10 via Orphanet, 34MESH via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Distal Arthrogryposis, Aliases & Descriptions:

Name: Distal Arthrogryposis 9 11 22
Freeman-Sheldon Syndrome 9 41 21 47 60
Arthrogryposis Multiplex Congenita 9 41 22
Craniocarpotarsal Dysplasia 41 21 47
Craniocarpotarsal Dystrophy 41 21 47
Freeman Sheldon Syndrome 41 20 22
Whistling Face Syndrome 41 21 47
Arthrogryposis 41 43 60
Whistling Face-Windmill Vane Hand Syndrome 41 21
Freeman-Sheldon Syndrome Variant 9 47
Distal Arthrogryposis Type 2b 47 22
Distal Arthrogryposis Type 2a 41 47
Sheldon-Hall Syndrome 9 47
Da2a 41 21
Fss 41 21
Fibrous Ankylosis of Multiple Joints 41
Congenital Multiple Arthrogryposis 41
 
Multiple Congenital Arthrogryposis 41
Myodystrophia Fetalis Deformans 41
Arthrogryposis, Distal, Type 2b 60
Distal Arthrogryposis Syndrome 60
Distal Arthrogryposis, Type 2a 21
Arthrogryposis Distal Type 2a 41
Congenital Arthromyodysplasia 41
Arthromyodysplasia Congenita 41
Rocher-Sheldon Syndrome 41
Guérin-Stern Syndrome 41
Guerin-Stern Syndrome 41
Congenital Amyoplasia 41
Amyoplasia Congenita 41
Rossi Syndrome 41
Otto Syndrome 41
Myodysplasia 41
Amc 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Muscle diseases


Characteristics (Orphanet epidemiological data):

47
freeman-sheldon syndrome variant:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Neonatal; Age of death: normal life expectancy
freeman-sheldon syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

Disease Ontology9 DOID:0050646
Orphanet47 1147, 2053
ICD10 via Orphanet26 Q68.8, Q87.0
MESH via Orphanet34 C535483
UMLS via Orphanet61 C0265224
ICD1025 Q74.3

Summaries for Distal Arthrogryposis

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NIH Rare Diseases:41 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 2b and trismus-pseudocamptodactyly syndrome, and has symptoms including low-set, posteriorly rotated ears, depressed nasal ridge and congenital diaphragmatic hernia. An important gene associated with Distal Arthrogryposis is TNNI2 (troponin I type 2 (skeletal, fast)), and among its related pathways are Tight junction and Development Slit Robo signaling. The compounds (+-)-blebbistatin and (r)-(+)-blebbistatin have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and testes.

Disease Ontology:9 A muscle tissue disease characterized by congenital joint contractures of hand and feet.

Genetics Home Reference:21 Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." For this reason, the condition is sometimes called "whistling face syndrome."

Related Diseases for Distal Arthrogryposis

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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 5
Arthrogryposis, Distal, Type 3

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

(show top 50)    (show all 223)
idRelated DiseaseScoreTop Affiliating Genes
1arthrogryposis, distal, type 2b31.1MYH3, TPM2
2trismus-pseudocamptodactyly syndrome30.7MYH8
3dilated cardiomyopathy30.3MYBPC2, MYBPC1
4clubfoot29.9TNNI2, TNNT3, TPM2, MYH3
5ophthalmoplegia29.8MYH8, MYH3
6nemaline myopathy29.6CFL2, TNNI2, TNNT3, TPM2
7arthrogryposis multiplex congenita neurogenic type10.7
8arthrogryposis multiplex congenita whistling face10.6
9autosomal recessive myogenic arthrogryposis multiplex congenita10.6
10arthrogryposis multiplex congenita, distal, type 110.6
11laryngitis10.5
12laryngomalacia10.5
13muscular dystrophy10.5
14arthrogryposis multiplex congenita cns calcification10.5
15myh3-related arthrogryposis multiplex congenita, distal, type 2b10.5
16tnni2-related arthrogryposis multiplex congenita, distal, type 2b10.5
17tnnt3-related arthrogryposis multiplex congenita, distal, type 2b10.5
18tpm2-related arthrogryposis multiplex congenita, distal, type 2b10.5
19antenatal multiminicore disease with arthrogryposis multiplex congenita10.5
20arthrogryposis, distal, type 5d10.5
21whistling face syndrome, recessive form10.5
22mental retardation10.5
23hydranencephaly10.4
24richieri-costa colletto otto syndrome10.4
25moebius syndrome10.4
26arthrogryposis, renal dysfunction, and cholestasis 110.4
27escobar syndrome10.4
28neurogenic bladder10.4
29bruck syndrome10.4
30neuropathy10.4
31pseudohypoaldosteronism, type iie10.4
32arthrogryposis, distal, type 510.4
33pelvic dysplasia arthrogryposis of lower limbs10.4
34arthrogryposis-like hand anomaly and sensorineural deafness10.4
35distal arthrogryposis moore weaver type10.4
36choanal atresia10.4
37coloboma10.4
38cerebritis10.4
39neuroleptic malignant syndrome10.4
40sleep disorder10.4
41dysphagia10.4
42hypertonia10.4
43intestinal atresia10.4
44fetal akinesia deformation sequence10.3
45spinal muscular atrophy, x-linked 2, infantile10.3
46myopathy10.3
47minicore myopathy, antenatal onset, with arthrogryposis10.3
48schwartz-jampel syndrome, type 110.3
49desmosterolosis10.3
50arthrogryposis, mental retardation, and seizures10.3

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



Diseases related to distal arthrogryposis

Symptoms for Distal Arthrogryposis

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Symptoms:

 47 (show all 48)
  • webbed neck/pterygium colli
  • scoliosis
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • simian crease/transverse/unique palmar crease
  • clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • narrow face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • long/large/bulbous nose
  • high vaulted/narrow palate
  • prominent/bat ears
  • round ear
  • short neck
  • vertebral segmentation anomaly/hemivertebrae
  • wrist/carpal anomalies
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • ulnar deviation of fingers
  • tarsal anomaly/fusion/synostosis
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • short stature/dwarfism/nanism
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • grooved/dimple chin
  • limited opening of the mouth
  • broad nose/nasal bridge
  • broad nasal root
  • thin/hypoplastic ala nasi
  • microstomia/little mouth
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • camptodactyly of fingers
  • talipes-varus/metatarsal varus
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • deepset eyes/enophthalmos
  • strabismus/squint
  • ptosis
  • small/triangular nares/nostrils
  • long philtrum
  • hearing loss/hypoacusia/deafness
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • malignant hyperthermia
  • fetal immobility/abnormal fetal movements
  • herniae
  • absence of palmar creases
  • autosomal recessive inheritance
  • oligoamnios
  • polyhydramnios

HPO human phenotypes related to Distal Arthrogryposis:

(show all 81)
id Description Frequency HPO Source Accession
1 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
2 depressed nasal ridge hallmark (90%) HP:0000457
3 congenital diaphragmatic hernia hallmark (90%) HP:0000776
4 lymphedema hallmark (90%) HP:0001004
5 polyhydramnios hallmark (90%) HP:0001561
6 talipes hallmark (90%) HP:0001883
7 abnormality of the pleura hallmark (90%) HP:0002103
8 scoliosis hallmark (90%) HP:0002650
9 abnormality of the wrist hallmark (90%) HP:0003019
10 abnormality of the hip bone hallmark (90%) HP:0003272
11 abnormality of the gastric mucosa hallmark (90%) HP:0004295
12 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
13 ulnar deviation of finger hallmark (90%) HP:0009465
14 webbed neck hallmark (90%) HP:0000465
15 single transverse palmar crease hallmark (90%) HP:0000954
16 adducted thumb hallmark (90%) HP:0001181
17 limitation of joint mobility hallmark (90%) HP:0001376
18 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
19 narrow mouth hallmark (90%) HP:0000160
20 abnormality of the teeth hallmark (90%) HP:0000164
21 trismus hallmark (90%) HP:0000211
22 hypertelorism hallmark (90%) HP:0000316
23 underdeveloped nasal alae hallmark (90%) HP:0000430
24 wide nasal bridge hallmark (90%) HP:0000431
25 downslanted palpebral fissures hallmark (90%) HP:0000494
26 chin dimple hallmark (90%) HP:0010751
27 camptodactyly of finger hallmark (90%) HP:0100490
28 abnormality of the palate typical (50%) HP:0000174
29 narrow face typical (50%) HP:0000275
30 micrognathia typical (50%) HP:0000347
31 short neck typical (50%) HP:0000470
32 abnormality of the wrist typical (50%) HP:0003019
33 abnormality of the hip bone typical (50%) HP:0003272
34 vertebral segmentation defect typical (50%) HP:0003422
35 short stature typical (50%) HP:0004322
36 abnormal nasal morphology typical (50%) HP:0005105
37 tarsal synostosis typical (50%) HP:0008368
38 ulnar deviation of finger typical (50%) HP:0009465
39 round ear typical (50%) HP:0100830
40 cryptorchidism typical (50%) HP:0000028
41 long philtrum typical (50%) HP:0000343
42 hearing impairment typical (50%) HP:0000365
43 strabismus typical (50%) HP:0000486
44 deeply set eye typical (50%) HP:0000490
45 ptosis typical (50%) HP:0000508
46 prenatal movement abnormality typical (50%) HP:0001557
47 malignant hyperthermia typical (50%) HP:0002047
48 neurological speech impairment typical (50%) HP:0002167
49 abnormality of the nares typical (50%) HP:0005288
50 polyhydramnios occasional (7.5%) HP:0001561
51 oligohydramnios occasional (7.5%) HP:0001562
52 absent palmar crease occasional (7.5%) HP:0010489
53 hernia occasional (7.5%) HP:0100790
54 cryptorchidism HP:0000028
55 scrotal hypoplasia HP:0000046
56 labial hypoplasia HP:0000066
57 round face HP:0000311
58 facial asymmetry HP:0000324
59 micrognathia HP:0000347
60 anteverted nares HP:0000463
61 torticollis HP:0000473
62 pterygium HP:0001059
63 tapered finger HP:0001182
64 interphalangeal joint contracture of finger HP:0001220
65 gastroschisis HP:0001543
66 decreased fetal movement HP:0001558
67 breech presentation HP:0001623
68 scoliosis HP:0002650
69 arthrogryposis multiplex congenita HP:0002804
70 hip dislocation HP:0002827
71 short nose HP:0003196
72 sporadic HP:0003745
73 facial midline hemangioma HP:0004664
74 jejunal atresia HP:0005235
75 metacarpophalangeal joint contracture HP:0006070
76 patellar aplasia HP:0006443
77 internally rotated shoulders HP:0006659
78 hypoplastic biceps HP:0009007
79 short finger HP:0009381
80 amniotic constriction ring HP:0009775
81 down-sloping shoulders HP:0200021

Drugs & Therapeutics for Distal Arthrogryposis

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Drug clinical trials:

Search ClinicalTrials for Distal Arthrogryposis

Search NIH Clinical Center for Distal Arthrogryposis

Genetic Tests for Distal Arthrogryposis

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Genetic tests related to Distal Arthrogryposis:

id Genetic test Affiliating Genes
1 Freeman-Sheldon Syndrome20 22 MYH3
2 Distal Arthrogryposis Type 2b22
3 Arthrogryposis Multiplex Congenita22
4 Distal Arthrogryposis22

Anatomical Context for Distal Arthrogryposis

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MalaCards organs/tissues related to Distal Arthrogryposis:

31
Eye, Bone, Testes, Lung, Skeletal muscle, Testis

Animal Models for Distal Arthrogryposis or affiliated genes

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Publications for Distal Arthrogryposis

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Articles related to Distal Arthrogryposis:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
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
2
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (24726473)
2014
3
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. (25099528)
2014
4
Mutations in ECEL1 cause distal arthrogryposis type 5D. (23261301)
2013
5
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. (23487782)
2013
6
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. (23829171)
2013
7
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. (23657818)
2013
8
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. (23236030)
2013
9
Distal arthrogryposis: clinical and genetic findings. (22519952)
2012
10
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. (21531865)
2011
11
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
12
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. (20045868)
2010
13
Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5. (19213027)
2009
14
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. (18695058)
2008
15
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. (17339586)
2007
16
Bilateral discoid medial menisci accompanied by distal arthrogryposis: a case report. (16983564)
2007
17
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. (17380469)
2007
18
Mitochondrial mutation in a child with distal arthrogryposis. (16353243)
2006
19
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. (17103435)
2006
20
A TNNI2 mutation in a family with distal arthrogryposis type 2B. (16497570)
2006
21
Distal arthrogryposis type 2A may be associated with juvenile glaucoma. (16278894)
2005
22
Re: distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.]. (16001435)
2005
23
Distal arthrogryposis and neonatal hypotonia: an unusual presentation of Prader-Willi syndrome (PWS). (15510104)
2004
24
Prenatal diagnosis of mosaic tetrasomy 10p associated with megacisterna magna, echogenic focus of left ventricle, umbilical cord cysts and distal arthrogryposis. (12599193)
2003
25
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (12865991)
2003
26
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. (11152147)
2001
27
Ocular findings in distal arthrogryposis. (11455953)
2001
28
Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis? (10766984)
2000
29
Progressive neurological deterioration in a child with distal arthrogryposis and whistling face. (10777369)
2000
30
Cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant? (10327254)
1999
31
Prenatal diagnosis of distal arthrogryposis type 1. (10384996)
1999
32
A family with autosomal dominant distal arthrogryposis multiplex congenita and brown syndrome. (10617921)
1999
33
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene. (9727748)
1998
34
Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome? (9689995)
1998
35
Familial distal arthrogryposis type I. (8766137)
1996
36
Extending the spectrum of distal arthrogryposis. (8923937)
1996
37
Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case. (8533802)
1995
38
Dominant distal arthrogryposis in a Maori family with marked variability of expression. (7762579)
1995
39
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. (7977374)
1994
40
Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome. (8370149)
1993
41
Distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: another case. (1488995)
1992
42
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1723604)
1991
43
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. (2063898)
1991
44
Syndrome of mental retardation and distal arthrogryposis in sibs. (1951463)
1991
45
Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II? (2764034)
1989
46
Prenatal diagnosis of distal arthrogryposis. (3287922)
1988
47
Distal arthrogryposis type II D in three generations of a Brazilian family. (3565478)
1987
48
Distal arthrogryposis type II: a family with varying congenital abnormalities. (3717209)
1986
49
An unusual distal arthrogryposis. (3993671)
1985
50
Autosomal-dominant inheritance of distal arthrogryposis. (7446562)
1980

Variations for Distal Arthrogryposis

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Clinvar genetic disease variations for Distal Arthrogryposis:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1TNNI2NM_003282.3(TNNI2): c.521G> A (p.Arg174Gln)single nucleotide variantPathogenicrs104894311GRCh37Chr 11, 1862753: 1862753
2TNNI2NM_003282.3(TNNI2): c.466C> T (p.Arg156Ter)single nucleotide variantPathogenicrs104894312GRCh37Chr 11, 1862698: 1862698
3TNNI2TNNI2, 3-BP DEL, 523AAGdeletionPathogenic
4TNNI2NM_003282.3(TNNI2): c.527_529delAGA (p.Lys176del)deletionPathogenicrs199474801GRCh37Chr 11, 1862759: 1862761
5TNNI2NM_003282.3(TNNI2): c.499_501delGAG (p.Glu167del)deletionPathogenicrs199474800GRCh37Chr 11, 1862731: 1862733
6TPM2NM_003289.3(TPM2): c.397C> T (p.Arg133Trp)single nucleotide variantPathogenicrs137853305GRCh37Chr 9, 35685526: 35685526
7MYH3NM_002470.3(MYH3): c.2015G> A (p.Arg672His)single nucleotide variantPathogenicrs121913617GRCh37Chr 17, 10544634: 10544634
8MYH3NM_002470.3(MYH3): c.2014C> T (p.Arg672Cys)single nucleotide variantPathogenicrs121913618GRCh37Chr 17, 10544635: 10544635
9MYH3NM_002470.3(MYH3): c.533C> T (p.Thr178Ile)single nucleotide variantPathogenicrs121913619GRCh37Chr 17, 10553691: 10553691
10MYH3NM_002470.3(MYH3): c.2474T> A (p.Val825Asp)single nucleotide variantPathogenicrs121913620GRCh37Chr 17, 10543521: 10543521
11MYH3MYH3, 3-BP DEL, 2590CTCdeletionPathogenic
12MYH3NM_002470.3(MYH3): c.1123G> A (p.Glu375Lys)single nucleotide variantPathogenicrs121913621GRCh37Chr 17, 10549042: 10549042
13MYH3NM_002470.3(MYH3): c.1385A> G (p.Asp462Gly)single nucleotide variantPathogenicrs121913622GRCh37Chr 17, 10547693: 10547693
14MYH3NM_002470.3(MYH3): c.700G> A (p.Ala234Thr)single nucleotide variantPathogenicrs121913623GRCh37Chr 17, 10551909: 10551909
15TNNT3NM_006757.3(TNNT3): c.188G> A (p.Arg63His)single nucleotide variantPathogenicrs121434638GRCh37Chr 11, 1954967: 1954967

Expression for genes affiliated with Distal Arthrogryposis

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Search GEO for disease gene expression data for Distal Arthrogryposis.

Pathways for genes affiliated with Distal Arthrogryposis

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6MYH3, MYH8
2
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion58
Pathogenic Escherichia coli infection36
Cytoskeleton remodeling Slit Robo signaling
9.0TUBA8, CFL2
3
Show member pathways
9.0MYH3, CFL2, MYH8
4
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.0MYH3, CFL2, MYH8
5
Show member pathways
9.0CFL2, MYH3, MYH8
6
Show member pathways
9.0CFL2, MYH3, MYH8
7
Show member pathways
8.2MYH8, MYH3, CFL2, TUBA8
8
Show member pathways
8.2CFL2, TUBA8, MYH3, MYH8
9
Show member pathways
8.2TUBA8, CFL2, MYH3, MYH8
10
Show member pathways
7.8TNNI2, TNNT3, TPM2, MYH3, MYH8, MYBPC1

Compounds for genes affiliated with Distal Arthrogryposis

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

idCompoundScoreTop Affiliating Genes
1(+-)-blebbistatin599.6MYH8, MYH3
2(r)-(+)-blebbistatin599.6MYH8, MYH3
3(s)-(-)-blebbistatin599.5MYH8, MYH3
4bts599.3MYH8, MYH3

GO Terms for genes affiliated with Distal Arthrogryposis

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

idNameGO IDScoreTop Affiliating Genes
1troponin complexGO:00058619.8TNNT3, TNNI2
2sarcomereGO:00300179.6MYH8, MYH3
3muscle myosin complexGO:00058599.3MYH8, MYH3
4myosin filamentGO:00329828.8MYBPC2, MYBPC1, MYH8, MYH3
5cytosolGO:00058297.8TNNI2, TNNT3, TPM2, MYH3, MYH8, MYBPC1

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

idNameGO IDScoreTop Affiliating Genes
1regulation of ATPase activityGO:00434629.8TPM2, TNNT3
2muscle contractionGO:00069369.7MYH8, TPM2
3skeletal muscle contractionGO:00030099.0TNNI2, TNNT3, MYH3, MYH8
4ATP catabolic processGO:00062009.0MYH8, MYH3, TNNT3
5muscle filament slidingGO:00300497.9MYBPC2, MYBPC1, MYH8, MYH3, TPM2, TNNT3

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

idNameGO IDScoreTop Affiliating Genes
1microfilament motor activityGO:00001469.6MYH3, MYH8
2structural constituent of muscleGO:00083078.5MYH8, MYBPC1, MYBPC2, TPM2
3actin bindingGO:00037797.6TNNT3, MYBPC2, MYBPC1, MYH3, TPM2, TNNI2

Products for genes affiliated with Distal Arthrogryposis

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  • Antibodies
  • Proteins
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  • Antibodies
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Sources for Distal Arthrogryposis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet