DA10
MCID: ART112
MIFTS: 23

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 57 72
Short Achilles Tendon 59 33
Da10 57 59
Congenital Plantar Contractures 57
Distal Arthrogryposis Type 10 59
Plantar Flexion Contracture 59
Tendo Calcaneus, Short 57
Short Tendo Calcaneus 59

Characteristics:

Orphanet epidemiological data:

59
distal arthrogryposis type 10
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
arthrogryposis, distal, type 10:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity childhood onset


Classifications:



External Ids:

ICD10 33 M67.0
ICD10 via Orphanet 34 Q68.8
UMLS via Orphanet 73 C1861238
Orphanet 59 ORPHA251515
MedGen 42 C1861238
UMLS 72 C1861238

Summaries for Arthrogryposis, Distal, Type 10

MalaCards based summary : Arthrogryposis, Distal, Type 10, also known as short achilles tendon, is related to arthrogryposis, distal, type 1a and ocular motor apraxia. Related phenotypes are elbow flexion contracture and toe walking

More information from OMIM: 187370 PS108120

Related Diseases for Arthrogryposis, Distal, Type 10

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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 elbow flexion contracture 32 HP:0002987
2 toe walking 32 HP:0040083
3 arthrogryposis multiplex congenita 32 HP:0002804
4 camptodactyly of finger 32 HP:0100490
5 wrist flexion contracture 32 HP:0001239
6 hamstring contractures 32 HP:0003089
7 distal arthrogryposis 32 HP:0005684
8 plantar flexion contractures 32 HP:0008112

Symptoms via clinical synopsis from OMIM:

57
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

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 25)
# Title Authors PMID Year
1
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. 38 8
17103435 2006
2
Congenital short tendo calcaneus. Report of a family. 8
4708278 1973
3
Congenital short tendo calcaneus. 8
6073187 1967
4
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. 38
30999870 2019
5
Electron Transfer in Spacer-Free DNA Duplexes Tethered to Gold via dA10 Tags. 38
29936843 2018
6
Design of New Bridge-Ring Energetic Compounds Obtained by Diels-Alder Reactions of Tetranitroethylene Dienophile. 38
29519126 2018
7
Comparison of Polyphenol Profile and Inhibitory Activities Against Oxidation and α-Glucosidase in Mulberry (Genus Morus) Cultivars from China. 38
26469191 2015
8
DNA photoreacts by nucleobase ring cleavage to form labile isocyanates. 38
23860445 2013
9
A new endophytic taxane-production fungus from Taxus chinensis. 38
19235515 2009
10
Generation and characterization of monoclonal antibodies against dengue virus type 1 for epitope mapping and serological detection by epitope-based peptide antigens. 38
17287314 2007
11
Inward rectification by polyamines in mouse Kir2.1 channels: synergy between blocking components. 38
12740427 2003
12
Importance of specific nucleotides in the folding of the natural form of the hairpin ribozyme. 38
11329299 2001
13
Production and characterization of monoclonal antibodies against urea derivatives. 38
10214701 1998
14
Molecular dynamics and continuum solvent studies of the stability of polyG-polyC and polyA-polyT DNA duplexes in solution. 38
9833666 1998
15
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. 38
9177843 1997
16
Parallel and antiparallel A*A-T intramolecular triple helices. 38
8948642 1996
17
FTIR study of a nonclassical dT10*dA10-dT10 intramolecular triple helix. 38
7578090 1995
18
Search for novel ligands selective at a polyamine recognition domain on the N-methyl-D-aspartate receptor complex using membrane binding techniques. 38
7648257 1995
19
Linkage structures strongly influence the binding cooperativity of DNA intercalators conjugated to triplex forming oligonucleotides. 38
8127688 1994
20
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. 38
8355191 1993
21
Association of branched nucleic acids. 38
8247812 1993
22
1,10-Diaminodecane and 1,12-diaminododecane block NMDA receptor currents by an open channel mechanism. 38
1283458 1992
23
Characterization of polyamines having agonist, antagonist, and inverse agonist effects at the polyamine recognition site of the NMDA receptor. 38
2166545 1990
24
Characterization of a stable, major DNA polymerase alpha species devoid of DNA primase activity. 38
3697091 1987
25
Sequence-dependent cooperative interactions in A/T-containing oligo- and polydeoxyribonucleotides. 38
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

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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