DA10
MCID: ART112
MIFTS: 34

Arthrogryposis, Distal, Type 10 (DA10)

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

Aliases & Classifications for Arthrogryposis, Distal, Type 10

MalaCards integrated aliases for Arthrogryposis, Distal, Type 10:

Name: Arthrogryposis, Distal, Type 10 56 43 71
Distal Arthrogryposis Type 10 12 58 15
Short Achilles Tendon 12 58 32
Da10 56 12 58
Plantar Flexion Contracture 12 58
Short Tendo Calcaneus 12 58
Congenital Plantar Contractures 56
Tendo Calcaneus, Short 56

Characteristics:

Orphanet epidemiological data:

58
distal arthrogryposis type 10
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in early childhood
toe-walking
plantar contractures become apparent with onset of ambulation
contractures other than plantar are less common and less severe


HPO:

31
arthrogryposis, distal, type 10:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity childhood onset


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111593
OMIM 56 187370
OMIM Phenotypic Series 56 PS108120
MeSH 43 C566069
ICD10 32 M67.0
ICD10 via Orphanet 33 Q68.8
UMLS via Orphanet 72 C1861238
Orphanet 58 ORPHA251515
MedGen 41 C1861238
UMLS 71 C1861238

Summaries for Arthrogryposis, Distal, Type 10

Disease Ontology : 12 A distal arthrogryposis that has material basis in heterozygous mutation in the chromosome region 2q31.3-q32.1.

MalaCards based summary : Arthrogryposis, Distal, Type 10, also known as distal arthrogryposis type 10, is related to arthrogryposis, distal, type 1a and distal arthrogryposis. An important gene associated with Arthrogryposis, Distal, Type 10 is FBXO8 (F-Box Protein 8), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Related phenotypes are elbow flexion contracture and toe walking

More information from OMIM: 187370 PS108120

Related Diseases for Arthrogryposis, Distal, Type 10

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 2e Arthrogryposis, Distal, Type 7
Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 2a
Arthrogryposis, Distal, Type 2b1 Arthrogryposis, Distal, Type 4
Arthrogryposis, Distal, Type 1b Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b2 Arthrogryposis, Distal, Type 2b3

Diseases related to Arthrogryposis, Distal, Type 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 1a 30.7 TPM2 TNNT3 TNNI2 MYH3 MYBPC1
2 distal arthrogryposis 27.9 TPM2 TNNT3 TNNI2 MYH3 MYBPC1 FBXO8
3 muscular dystrophy, duchenne type 10.1
4 alkuraya-kucinskas syndrome 10.1
5 peripheral vascular disease 10.1
6 hemiplegia 10.1
7 arteriovenous malformation 10.1
8 decubitus ulcer 10.1
9 muscular dystrophy 10.1
10 congenital amyoplasia 10.1
11 arthrogryposis, distal, type 4 10.1 MYH3 FBN2
12 spondylocarpotarsal synostosis syndrome 10.0 TNNT3 TNNI2 MYH3
13 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.9 TPM2 TNNT3 TNNI2
14 arthrogryposis, distal, type 6 9.9 MYH3 FBN2 C3orf18
15 congenital fiber-type disproportion 9.9 TPM2 TNNT3 TNNI2
16 fissured tongue 9.8 TNNT3 TNNI2 ECEL1
17 bothnia retinal dystrophy 9.8 RGR RDH5
18 arthrogryposis, distal, type 2b1 9.8 TPM2 TNNT3 TNNI2 MYH3
19 congenital structural myopathy 9.7 TPM2 TNNT3
20 arthrogryposis, distal, type 1b 9.6 TNNT3 TNNI2 MYBPC1
21 arthrogryposis, distal, type 7 9.5 TPM2 TNNT3 TNNI2 MYH3 FBXO8 FBN2
22 multiple pterygium syndrome, escobar variant 9.4 TPM2 TNNT3 TNNI2 MYH3 ECEL1
23 digitotalar dysmorphism 9.2 TPM2 TNNT3 TNNI2 MYH3 MYBPC1
24 lethal congenital contracture syndrome 4 9.2 TPM2 TNNT3 TNNI2 MYH3 MYBPC1
25 scoliosis 9.1 MYH3 MYBPC1 FBN2 EMC1
26 arthrogryposis, distal, type 5d 9.1 TNNT3 TNNI2 MYH3 MYBPC1 ECEL1
27 arthrogryposis, distal, type 2a 8.6 TPM2 TNNT3 TNNI2 MYH3 MYBPC1 FBN2
28 arthrogryposis, distal, type 5 8.6 TPM2 TNNT3 TNNI2 MYH3 MYBPC1 FBN2
29 clubfoot 8.6 TPM2 TNNT3 TNNI2 MYH3 MYBPC1 HECTD4

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 10:



Diseases related to Arthrogryposis, Distal, Type 10

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 10

Human phenotypes related to Arthrogryposis, Distal, Type 10:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 elbow flexion contracture 31 HP:0002987
2 toe walking 31 HP:0040083
3 wrist flexion contracture 31 HP:0001239
4 arthrogryposis multiplex congenita 31 HP:0002804
5 camptodactyly of finger 31 HP:0100490
6 distal arthrogryposis 31 HP:0005684
7 hamstring contractures 31 HP:0003089
8 plantar flexion contractures 31 HP:0008112

Symptoms via clinical synopsis from OMIM:

56
Skeletal Limbs:
hamstring contractures
wrist contractures
elbow contractures

Skeletal Hands:
finger contractures

Skeletal Feet:
plantar flexion contractures

Laboratory Abnormalities:
normal serum creatine kinase

Clinical features from OMIM:

187370

Drugs & Therapeutics for Arthrogryposis, Distal, Type 10

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effectiveness of MOVI Interventions on Improving Adiposity, Cognition and Motor Competence by Increasing Aerobic Cardiorespiratory Fitness: MOVI-da10! Completed NCT03236363

Search NIH Clinical Center for Arthrogryposis, Distal, Type 10

Cochrane evidence based reviews: arthrogryposis, distal, type 10

Genetic Tests for Arthrogryposis, Distal, Type 10

Anatomical Context for Arthrogryposis, Distal, Type 10

Publications for Arthrogryposis, Distal, Type 10

Articles related to Arthrogryposis, Distal, Type 10:

(show all 26)
# Title Authors PMID Year
1
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. 61 56
17103435 2006
2
Congenital short tendo calcaneus. Report of a family. 56
4708278 1973
3
Congenital short tendo calcaneus. 56
6073187 1967
4
Campylobacter bacteriophage DA10: an excised temperate bacteriophage targeted by CRISPR-cas. 61
32532247 2020
5
Rationale and methods of the MOVI-da10! Study -a cluster-randomized controlled trial of the impact of classroom-based physical activity programs on children's adiposity, cognition and motor competence. 61
30999870 2019
6
Electron Transfer in Spacer-Free DNA Duplexes Tethered to Gold via dA10 Tags. 61
29936843 2018
7
Design of New Bridge-Ring Energetic Compounds Obtained by Diels-Alder Reactions of Tetranitroethylene Dienophile. 61
29519126 2018
8
Comparison of Polyphenol Profile and Inhibitory Activities Against Oxidation and α-Glucosidase in Mulberry (Genus Morus) Cultivars from China. 61
26469191 2015
9
DNA photoreacts by nucleobase ring cleavage to form labile isocyanates. 61
23860445 2013
10
A new endophytic taxane-production fungus from Taxus chinensis. 61
19235515 2009
11
Generation and characterization of monoclonal antibodies against dengue virus type 1 for epitope mapping and serological detection by epitope-based peptide antigens. 61
17287314 2007
12
Inward rectification by polyamines in mouse Kir2.1 channels: synergy between blocking components. 61
12740427 2003
13
Importance of specific nucleotides in the folding of the natural form of the hairpin ribozyme. 61
11329299 2001
14
Molecular dynamics and continuum solvent studies of the stability of polyG-polyC and polyA-polyT DNA duplexes in solution. 61
9833666 1998
15
Production and characterization of monoclonal antibodies against urea derivatives. 61
10214701 1998
16
Regiospecific solid-phase synthesis of branched oligonucleotides. Effect of vicinal 2',5'- (or 2',3'-) and 3',5'-phosphodiester linkages on the formation of hairpin DNA. 61
9177843 1997
17
Parallel and antiparallel A*A-T intramolecular triple helices. 61
8948642 1996
18
FTIR study of a nonclassical dT10*dA10-dT10 intramolecular triple helix. 61
7578090 1995
19
Search for novel ligands selective at a polyamine recognition domain on the N-methyl-D-aspartate receptor complex using membrane binding techniques. 61
7648257 1995
20
Linkage structures strongly influence the binding cooperativity of DNA intercalators conjugated to triplex forming oligonucleotides. 61
8127688 1994
21
Effects of the putative polyamine antagonists diethylenetriamine and 1,10-diaminodecane on N-methyl-D-aspartic acid-stimulated [3H]norepinephrine release from rat hippocampal slices. 61
8355191 1993
22
Association of branched nucleic acids. 61
8247812 1993
23
1,10-Diaminodecane and 1,12-diaminododecane block NMDA receptor currents by an open channel mechanism. 61
1283458 1992
24
Characterization of polyamines having agonist, antagonist, and inverse agonist effects at the polyamine recognition site of the NMDA receptor. 61
2166545 1990
25
Characterization of a stable, major DNA polymerase alpha species devoid of DNA primase activity. 61
3697091 1987
26
Sequence-dependent cooperative interactions in A/T-containing oligo- and polydeoxyribonucleotides. 61
3801422 1986

Variations for Arthrogryposis, Distal, Type 10

Expression for Arthrogryposis, Distal, Type 10

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 10.

Pathways for Arthrogryposis, Distal, Type 10

GO Terms for Arthrogryposis, Distal, Type 10

Cellular components related to Arthrogryposis, Distal, Type 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myofibril GO:0030016 9.16 MYH3 MYBPC1
2 myosin filament GO:0032982 8.96 MYH3 MYBPC1
3 troponin complex GO:0005861 8.62 TNNT3 TNNI2

Biological processes related to Arthrogryposis, Distal, Type 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.4 TNNT3 TNNI2
2 sarcomere organization GO:0045214 9.37 TNNT3 MYH3
3 skeletal muscle contraction GO:0003009 9.33 TNNT3 TNNI2 MYH3
4 regulation of muscle contraction GO:0006937 9.32 TNNT3 TNNI2
5 regulation of ATPase activity GO:0043462 9.26 TPM2 TNNT3
6 muscle contraction GO:0006936 9.26 TPM2 TNNT3 TNNI2 MYBPC1
7 muscle filament sliding GO:0030049 9.02 TPM2 TNNT3 TNNI2 MYH3 MYBPC1

Molecular functions related to Arthrogryposis, Distal, Type 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.02 TPM2 TNNT3 TNNI2 MYH3 MYBPC1
2 structural constituent of muscle GO:0008307 8.96 TPM2 MYBPC1

Sources for Arthrogryposis, Distal, Type 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....