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MCID: DST002
MIFTS: 56

Distal Arthrogryposis

Categories: Rare diseases, Muscle diseases, Fetal diseases, Genetic diseases, Ear diseases, Bone diseases, Oral diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Distal Arthrogryposis

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Muscle diseases Ear diseases Bone diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 33


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Summaries for Distal Arthrogryposis

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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 2a, and has symptoms including arthralgia, metatarsalgia and muscle cramp. 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 Menthol and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include lung, testis and skin, and related phenotypes are low-set, posteriorly rotated ears and depressed nasal ridge

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

Wikipedia : 76 Arthrogryposis multiplex congenital (AMC), or simply arthrogryposis, describes congenital joint... more...

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Related Diseases for Distal Arthrogryposis

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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 71)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 1a 34.5 MYBPC1 TPM2
2 arthrogryposis, distal, type 2a 33.7 MYH3 NALCN
3 arthrogryposis, distal, type 5 33.2 MYH3 NALCN PIEZO2 TNNI2 TNNT3 TPM2
4 digitotalar dysmorphism 31.4 MYBPC1 MYH3 NALCN TNNI2 TNNT3 TPM2
5 marden-walker syndrome 30.9 FBN2 PIEZO2
6 clubfoot 30.1 ECEL1 MYBPC1 MYH3 TNNT3 TPM2
7 congenital contractures 29.9 NALCN RYR1 TNNT3
8 scoliosis 29.1 ADGRG6 FBN2 MYH3 RYR1
9 myopathy 29.0 ACTA1 MYH6 RYR1 TNNI2 TPM2
10 ptosis 29.0 ECEL1 RAPSN RYR1
11 arthrogryposis multiplex congenita, neurogenic type 12.8
12 arthrogryposis multiplex congenita, neurogenic, with myelin defect 12.5
13 autosomal recessive myogenic arthrogryposis multiplex congenita 12.4
14 arthrogryposis multiplex congenita whistling face 12.3
15 arthrogryposis multiplex congenita cns calcification 12.2
16 antenatal multiminicore disease with arthrogryposis multiplex congenita 12.2
17 mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 12.2
18 arthrogryposis, renal dysfunction, and cholestasis 1 12.1
19 arthrogryposis, distal, type 5d 12.1
20 arthrogryposis, distal, type 3 12.0
21 richieri-costa colletto otto syndrome 11.9
22 distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies 11.9
23 arthrogryposis, distal, type 8 11.7
24 arthrogryposis, distal, type 4 11.7
25 arthrogryposis, distal, type 9 11.6
26 arthrogryposis, distal, type 7 11.6
27 arthrogryposis, distal, type 6 11.6
28 spinal muscular atrophy, x-linked 2 11.5
29 arthrogryposis, distal, type 10 11.3
30 arthrogryposis, distal, type 1b 11.1
31 arthrogryposis, distal, with impaired proprioception and touch 11.1
32 arthrogryposis-like hand anomaly and sensorineural deafness 10.9
33 whistling face syndrome, recessive form 10.9
34 ehlers-danlos syndrome, musculocontractural type, 1 10.9
35 fissured tongue 10.7 ECEL1 TNNI2 TNNT3
36 cardiomyopathy, familial hypertrophic, 4 10.7 MYBPC1 MYBPC2
37 typical congenital nemaline myopathy 10.7 ACTA1 TPM2
38 childhood-onset nemaline myopathy 10.6 ACTA1 TPM2
39 tongue disease 10.6 TNNI2 TNNT3
40 cap myopathy 10.6 ACTA1 TPM2
41 strabismus 10.3 ECEL1 NALCN PIEZO2
42 congenital structural myopathy 10.1 ACTA1 RYR1 TPM2
43 cleft palate, isolated 10.1
44 type i 10.0
45 myopathy, congenital, with fiber-type disproportion 9.9 ACTA1 RYR1
46 pierre robin syndrome 9.9
47 polyglucosan body myopathy 1 with or without immunodeficiency 9.9
48 hydronephrosis 9.9
49 isolated pierre robin sequence 9.9
50 scapuloperoneal myopathy 9.8 ACTA1 MYH6

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



Diseases related to Distal Arthrogryposis
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Symptoms & Phenotypes for Distal Arthrogryposis

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Human phenotypes related to Distal Arthrogryposis:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 low-set, posteriorly rotated ears 32 hallmark (90%) HP:0000368
2 depressed nasal ridge 32 hallmark (90%) HP:0000457
3 congenital diaphragmatic hernia 32 hallmark (90%) HP:0000776
4 lymphedema 32 hallmark (90%) HP:0001004
5 gastroschisis 32 hallmark (90%) HP:0001543
6 polyhydramnios 32 hallmark (90%) HP:0001561
7 talipes 32 hallmark (90%) HP:0001883
8 abnormality of the pleura 32 hallmark (90%) HP:0002103
9 scoliosis 32 hallmark (90%) HP:0002650
10 arthrogryposis multiplex congenita 32 hallmark (90%) HP:0002804
11 hip dislocation 32 hallmark (90%) HP:0002827
12 abnormality of the wrist 32 hallmark (90%) HP:0003019
13 abnormality of the gastric mucosa 32 hallmark (90%) HP:0004295
14 aplasia/hypoplasia of the lungs 32 hallmark (90%) HP:0006703
15 ulnar deviation of finger 32 hallmark (90%) HP:0009465

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.61 ACTA1 ADGRG6 ECEL1 FBN2 MYH6 RAPSN
2 respiratory system MP:0005388 9.17 ECEL1 FBN2 MYH6 NALCN RAPSN RYR1
Sources

Drugs & Therapeutics for Distal Arthrogryposis

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

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

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Genetic Tests for Distal Arthrogryposis

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Genetic tests related to Distal Arthrogryposis:

# Genetic test Affiliating Genes
1 Distal Arthrogryposis 29
2 Arthrogryposis Multiplex Congenita 29
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Anatomical Context for Distal Arthrogryposis

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MalaCards organs/tissues related to Distal Arthrogryposis:

41
Lung, Testis, Skin, Skeletal Muscle
Sources

Publications for Distal Arthrogryposis

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Articles related to Distal Arthrogryposis:

(show top 50) (show all 93)
# Title Authors Year
1
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessiveA TNNT3A splice variant. ( 29266598 )
2018
2
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases. ( 29663639 )
2018
3
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
4
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. ( 27782104 )
2017
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
ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis. ( 26951213 )
2016
7
Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. ( 27790376 )
2016
8
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. ( 27974811 )
2016
9
Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. ( 27214504 )
2016
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
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
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. ( 26374086 )
2015
13
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. ( 25712306 )
2015
14
AMC: amyoplasia and distal arthrogryposis. ( 26537820 )
2015
15
Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. ( 24782201 )
2014
16
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis. ( 25337069 )
2014
17
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. ( 25099528 )
2014
18
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. ( 24726473 )
2014
19
Corneal Impairment in a Patient With Type 2 Distal Arthrogryposis. ( 24296953 )
2013
20
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. ( 23236030 )
2013
21
Mutations in ECEL1 cause distal arthrogryposis type 5D. ( 23261301 )
2013
22
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. ( 23657818 )
2013
23
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. ( 23829171 )
2013
24
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. ( 23401156 )
2013
25
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. ( 23487782 )
2013
26
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
27
Distal arthrogryposis: clinical and genetic findings. ( 22519952 )
2012
28
A de novo 1.13A Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism. ( 22534424 )
2012
29
7A Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). ( 21722758 )
2011
30
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. ( 21531865 )
2011
31
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
32
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. ( 20045868 )
2010
33
Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report. ( 20090872 )
2009
34
Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5. ( 19213027 )
2009
35
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. ( 18695058 )
2008
36
Early results of the Ponseti method for the treatment of clubfoot in distal arthrogryposis. ( 18594099 )
2008
37
Distal arthrogryposis syndrome. ( 20300297 )
2008
38
Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound. ( 17385787 )
2007
39
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. ( 17194691 )
2007
40
Pulmonary disease is a component of distal arthrogryposis type 5. ( 17345626 )
2007
41
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. ( 17380469 )
2007
42
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. ( 17339586 )
2007
43
Bilateral discoid medial menisci accompanied by distal arthrogryposis: a case report. ( 16983564 )
2007
44
Mitochondrial mutation in a child with distal arthrogryposis. ( 16353243 )
2006
45
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. ( 16924011 )
2006
46
A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. ( 16802141 )
2006
47
A TNNI2 mutation in a family with distal arthrogryposis type 2B. ( 16497570 )
2006
48
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. ( 17103435 )
2006
49
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. ( 17101001 )
2006
50
Re: distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.]. ( 16001435 )
2005
Sources

Variations for Distal Arthrogryposis

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ClinVar genetic disease variations for Distal Arthrogryposis:

6
(show top 50) (show all 376)
# 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 ADGRG6 NM_198569.2(ADGRG6): c.19C> T (p.Arg7Ter) single nucleotide variant Pathogenic rs749355583 GRCh37 Chromosome 6, 142630697: 142630697
4 ADGRG6 NM_198569.2(ADGRG6): c.19C> T (p.Arg7Ter) single nucleotide variant Pathogenic rs749355583 GRCh38 Chromosome 6, 142309560: 142309560
5 ADGRG6 NM_020455.5(ADGRG6): c.2144dupG (p.Gln716Thrfs) duplication Pathogenic rs793888524 GRCh37 Chromosome 6, 142726841: 142726841
6 ADGRG6 NM_020455.5(ADGRG6): c.2144dupG (p.Gln716Thrfs) duplication Pathogenic rs793888524 GRCh38 Chromosome 6, 142405704: 142405704
7 ADGRG6 NM_198569.2(ADGRG6): c.2306T> A (p.Val769Glu) single nucleotide variant Pathogenic rs793888525 GRCh37 Chromosome 6, 142729324: 142729324
8 ADGRG6 NM_198569.2(ADGRG6): c.2306T> A (p.Val769Glu) single nucleotide variant Pathogenic rs793888525 GRCh38 Chromosome 6, 142408187: 142408187
9 MYBPC1 NM_002465.3(MYBPC1): c.594T> C (p.Ser198=) single nucleotide variant Likely benign rs79442861 GRCh37 Chromosome 12, 102028369: 102028369
10 MYBPC1 NM_002465.3(MYBPC1): c.594T> C (p.Ser198=) single nucleotide variant Likely benign rs79442861 GRCh38 Chromosome 12, 101634591: 101634591
11 MYBPC1 NM_002465.3(MYBPC1): c.608+9A> G single nucleotide variant Likely benign rs183524782 GRCh38 Chromosome 12, 101634614: 101634614
12 MYBPC1 NM_002465.3(MYBPC1): c.608+9A> G single nucleotide variant Likely benign rs183524782 GRCh37 Chromosome 12, 102028392: 102028392
13 MYH3 NM_002470.3(MYH3): c.3592G> A (p.Ala1198Thr) single nucleotide variant Benign/Likely benign rs61735358 GRCh37 Chromosome 17, 10541497: 10541497
14 MYH3 NM_002470.3(MYH3): c.3592G> A (p.Ala1198Thr) single nucleotide variant Benign/Likely benign rs61735358 GRCh38 Chromosome 17, 10638180: 10638180
15 MYH3 NM_002470.3(MYH3): c.1504T> G (p.Tyr502Asp) single nucleotide variant Likely pathogenic rs797045727 GRCh37 Chromosome 17, 10546220: 10546220
16 MYH3 NM_002470.3(MYH3): c.1504T> G (p.Tyr502Asp) single nucleotide variant Likely pathogenic rs797045727 GRCh38 Chromosome 17, 10642903: 10642903
17 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183delAGA (p.Glu2727del) deletion Pathogenic rs587777077 GRCh38 Chromosome 18, 10671603: 10671605
18 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183delAGA (p.Glu2727del) deletion Pathogenic rs587777077 GRCh37 Chromosome 18, 10671600: 10671602
19 TNNT3 NM_006757.3(TNNT3): c.367-9T> C single nucleotide variant Likely benign rs76471485 GRCh38 Chromosome 11, 1934323: 1934323
20 TNNT3 NM_006757.3(TNNT3): c.367-9T> C single nucleotide variant Likely benign rs76471485 GRCh37 Chromosome 11, 1955553: 1955553
21 TNNT3 NM_006757.3(TNNT3): c.723-15G> C single nucleotide variant Likely benign rs143255528 GRCh38 Chromosome 11, 1938423: 1938423
22 TNNT3 NM_006757.3(TNNT3): c.723-15G> C single nucleotide variant Likely benign rs143255528 GRCh37 Chromosome 11, 1959653: 1959653
23 TNNT3 NM_006757.3(TNNT3): c.*36C> T single nucleotide variant Likely benign rs147535560 GRCh38 Chromosome 11, 1938528: 1938528
24 TNNT3 NM_006757.3(TNNT3): c.*36C> T single nucleotide variant Likely benign rs147535560 GRCh37 Chromosome 11, 1959758: 1959758
25 MYBPC1 NM_002465.3(MYBPC1): c.26-9C> T single nucleotide variant Likely benign rs181619118 GRCh38 Chromosome 12, 101614487: 101614487
26 MYBPC1 NM_002465.3(MYBPC1): c.26-9C> T single nucleotide variant Likely benign rs181619118 GRCh37 Chromosome 12, 102008265: 102008265
27 MYBPC1 NM_002465.3(MYBPC1): c.420C> T (p.Thr140=) single nucleotide variant Likely benign rs140667525 GRCh38 Chromosome 12, 101631701: 101631701
28 MYBPC1 NM_002465.3(MYBPC1): c.420C> T (p.Thr140=) single nucleotide variant Likely benign rs140667525 GRCh37 Chromosome 12, 102025479: 102025479
29 MYBPC1 NM_002465.3(MYBPC1): c.2809+12T> C single nucleotide variant Benign rs11110952 GRCh37 Chromosome 12, 102067412: 102067412
30 MYBPC1 NM_002465.3(MYBPC1): c.2809+12T> C single nucleotide variant Benign rs11110952 GRCh38 Chromosome 12, 101673634: 101673634
31 MYH3 NM_002470.3(MYH3): c.5457+9dupA duplication Likely benign rs397750512 GRCh37 Chromosome 17, 10533596: 10533596
32 MYH3 NM_002470.3(MYH3): c.5457+9dupA duplication Likely benign rs397750512 GRCh38 Chromosome 17, 10630279: 10630279
33 MYH3 NM_002470.3(MYH3): c.5109G> A (p.Ala1703=) single nucleotide variant Likely benign rs114770362 GRCh37 Chromosome 17, 10535181: 10535181
34 MYH3 NM_002470.3(MYH3): c.5109G> A (p.Ala1703=) single nucleotide variant Likely benign rs114770362 GRCh38 Chromosome 17, 10631864: 10631864
35 MYH3 NM_002470.3(MYH3): c.4647+6T> G single nucleotide variant Uncertain significance rs375163919 GRCh37 Chromosome 17, 10536902: 10536902
36 MYH3 NM_002470.3(MYH3): c.4647+6T> G single nucleotide variant Uncertain significance rs375163919 GRCh38 Chromosome 17, 10633585: 10633585
37 MYH3 NM_002470.3(MYH3): c.2926-8C> T single nucleotide variant Uncertain significance rs188588330 GRCh37 Chromosome 17, 10542799: 10542799
38 MYH3 NM_002470.3(MYH3): c.2926-8C> T single nucleotide variant Uncertain significance rs188588330 GRCh38 Chromosome 17, 10639482: 10639482
39 MYH3 NM_002470.3(MYH3): c.2926-12A> G single nucleotide variant Likely benign rs2285473 GRCh38 Chromosome 17, 10639486: 10639486
40 MYH3 NM_002470.3(MYH3): c.2926-12A> G single nucleotide variant Likely benign rs2285473 GRCh37 Chromosome 17, 10542803: 10542803
41 MYH3 NM_002470.3(MYH3): c.2883C> A (p.Thr961=) single nucleotide variant Conflicting interpretations of pathogenicity rs144338240 GRCh38 Chromosome 17, 10639602: 10639602
42 MYH3 NM_002470.3(MYH3): c.2883C> A (p.Thr961=) single nucleotide variant Conflicting interpretations of pathogenicity rs144338240 GRCh37 Chromosome 17, 10542919: 10542919
43 MYH3 NM_002470.3(MYH3): c.2683-4T> C single nucleotide variant Likely benign rs182229640 GRCh37 Chromosome 17, 10543123: 10543123
44 MYH3 NM_002470.3(MYH3): c.2683-4T> C single nucleotide variant Likely benign rs182229640 GRCh38 Chromosome 17, 10639806: 10639806
45 MYH3 NM_002470.3(MYH3): c.2166-15A> G single nucleotide variant Likely benign rs876660 GRCh37 Chromosome 17, 10544018: 10544018
46 MYH3 NM_002470.3(MYH3): c.2166-15A> G single nucleotide variant Likely benign rs876660 GRCh38 Chromosome 17, 10640701: 10640701
47 MYH3 NM_002470.3(MYH3): c.1581+13A> C single nucleotide variant Likely benign rs2285468 GRCh37 Chromosome 17, 10546130: 10546130
48 MYH3 NM_002470.3(MYH3): c.1581+13A> C single nucleotide variant Likely benign rs2285468 GRCh38 Chromosome 17, 10642813: 10642813
49 MYH3 NM_002470.3(MYH3): c.774G> A (p.Lys258=) single nucleotide variant Likely benign rs16943598 GRCh37 Chromosome 17, 10550705: 10550705
50 MYH3 NM_002470.3(MYH3): c.774G> A (p.Lys258=) single nucleotide variant Likely benign rs16943598 GRCh38 Chromosome 17, 10647388: 10647388
Sources

Expression for Distal Arthrogryposis

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Search GEO for disease gene expression data for Distal Arthrogryposis.
Sources

Pathways for Distal Arthrogryposis

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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:

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 66
Show member pathways
 12.38 MYBPC1 MYBPC2 MYH3 MYH6 MYH8 RYR1
2
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 22
Show member pathways
 12.23 ACTA1 MYH3 MYH6 MYH8
3
RhoGDI Pathway 64
Show member pathways
 12 ACTA1 MYH3 MYH6 MYH8
4
Translocation of GLUT4 to the plasma membrane 66
11.23 MYH3 MYH6 MYH8
5
Striated Muscle Contraction 1 66
11.18 ACTA1 MYBPC1 MYBPC2 MYH3 MYH6 MYH8
6
Cytoskeleton remodeling_RalA regulation pathway 22
11 ACTA1 MYH3 MYH6 MYH8
Sources

GO Terms for Distal Arthrogryposis

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.72 MYBPC1 MYBPC2 MYH6 RYR1 SMN1
2 myofibril GO:0030016 9.67 MYBPC1 MYH3 MYH6 MYH8
3 myosin complex GO:0016459 9.61 MYH3 MYH6 MYH8
4 striated muscle thin filament GO:0005865 9.58 ACTA1 MYBPC1 MYBPC2
5 sarcomere GO:0030017 9.55 ACTA1 MYH3 MYH6 MYH8 SYNE1
6 troponin complex GO:0005861 9.43 TNNC2 TNNI2 TNNT3
7 muscle myosin complex GO:0005859 9.35 MYBPC1 MYBPC2 MYH3 MYH6 MYH8
8 myosin filament GO:0032982 9.02 MYBPC1 MYBPC2 MYH3 MYH6 MYH8
9 cytosol GO:0005829 10.23 ACTA1 MYBPC1 MYBPC2 MYH3 MYH6 MYH8

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.7 MYH3 MYH6 MYH8
2 actin filament organization GO:0007015 9.69 MYBPC1 MYBPC2 TPM2
3 sarcomere organization GO:0045214 9.65 MYBPC1 MYBPC2 MYH3 MYH6 TNNT3
4 cardiac muscle contraction GO:0060048 9.63 MYH6 TNNI2 TNNT3
5 ATP metabolic process GO:0046034 9.61 MYH3 MYH6 MYH8
6 muscle contraction GO:0006936 9.61 ACTA1 MYBPC1 MYBPC2 MYH6 MYH8 RYR1
7 striated muscle contraction GO:0006941 9.58 MYBPC1 MYBPC2 MYH6
8 skeletal muscle contraction GO:0003009 9.55 MYH3 MYH8 TNNC2 TNNI2 TNNT3
9 skeletal muscle fiber development GO:0048741 9.54 ACTA1 RYR1
10 regulation of muscle contraction GO:0006937 9.54 TNNC2 TNNI2 TNNT3
11 regulation of ATPase activity GO:0043462 9.5 MYH6 TNNT3 TPM2
12 actin filament-based movement GO:0030048 9.49 MYH3 MYH6
13 striated muscle myosin thick filament assembly GO:0071688 9.48 MYBPC1 MYBPC2
14 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 9.67 MYH3 MYH6 MYH8 RYR1
2 microtubule motor activity GO:0003777 9.65 MYH3 MYH6 MYH8
3 motor activity GO:0003774 9.61 MYH3 MYH6 MYH8
4 structural constituent of muscle GO:0008307 9.56 MYBPC1 MYBPC2 MYH8 TPM2
5 actin binding GO:0003779 9.56 MYH3 MYH6 MYH8 SYNE1 TNNC2 TNNI2
6 microfilament motor activity GO:0000146 9.5 MYH3 MYH6 MYH8
7 muscle alpha-actinin binding GO:0051371 9.46 MYBPC1 MYBPC2
8 structural molecule activity conferring elasticity GO:0097493 9.4 MYBPC1 MYBPC2
9 myosin phosphatase activity GO:0017018 9.33 MYH3 MYH6 MYH8
10 actin filament binding GO:0051015 9.23 MYBPC1 MYBPC2 MYH3 MYH6 MYH8 SYNE1
Sources

Sources for Distal Arthrogryposis

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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