MCID: DST002
MIFTS: 57

Distal Arthrogryposis

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

Aliases & Classifications for Distal Arthrogryposis

MalaCards integrated aliases for Distal Arthrogryposis:

Name: Distal Arthrogryposis 12 49 36 28 14
Arthrogryposis Multiplex Congenita 12 72 49 28
Arthrogryposis 49 51 69
Freeman-Sheldon Syndrome 12 69
Arthrogryposis Multiplex Congenita Distal 49
Fibrous Ankylosis of Multiple Joints 49
Congenital Multiple Arthrogryposis 49
Freeman-Sheldon Syndrome Variant 12
Arthrogryposis, Distal, Type 2b 69
Myodystrophia Fetalis Deformans 49
Distal Arthrogryposis Syndrome 69
Congenital Arthromyodysplasia 49
Rocher-Sheldon Syndrome 49
Sheldon-Hall Syndrome 12
Guerin-Stern Syndrome 49
Guérin-Stern Syndrome 49
Rossi Syndrome 49
Otto Syndrome 49

Classifications:



Summaries for Distal Arthrogryposis

NIH Rare Diseases : 49 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 arthrogryposis multiplex congenita, is related to arthrogryposis, distal, type 1a and arthrogryposis, distal, type 5, 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 I2, Fast Skeletal Type), and among its related pathways/superpathways are Cardiac muscle contraction and Tight junction. The drugs Adenosine and Menthol have been mentioned in the context of this disorder. Affiliated tissues include lung, testis 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.

Wikipedia : 72 Arthrogryposis multiplex congenital (AMC), or simply arthrogryposis, describes congenital joint... more...

Related Diseases for Distal Arthrogryposis

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 67)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 1a 33.4 ADGRG6 MYBPC1 RYR1 TPM2
2 arthrogryposis, distal, type 5 33.4 MYH3 NALCN PIEZO2 TNNI2 TNNT3 TPM2
3 arthrogryposis, distal, type 2a 33.3 MYH3 NALCN
4 digitotalar dysmorphism 31.5 MYBPC1 MYH3 NALCN TNNI2 TNNT3 TPM2
5 marden-walker syndrome 30.5 FBN2 PIEZO2
6 congenital contractures 30.1 NALCN RYR1 TNNT3
7 myopathy 30.0 ACTA1 MYH6 RYR1 TNNI2 TPM2
8 clubfoot 30.0 ECEL1 MYBPC1 MYH3 TNNT3 TPM2
9 ptosis 29.8 ECEL1 RYR1 TUBB3
10 arthrogryposis, distal, type 5d 12.1
11 arthrogryposis, distal, type 3 12.0
12 richieri-costa colletto otto syndrome 11.9
13 distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies 11.9
14 arthrogryposis, distal, type 4 11.7
15 arthrogryposis, distal, type 8 11.7
16 spinal muscular atrophy, x-linked 2 11.7
17 arthrogryposis, distal, type 9 11.6
18 arthrogryposis, distal, type 7 11.6
19 arthrogryposis, distal, type 6 11.6
20 fetal akinesia deformation sequence 11.4
21 arthrogryposis, distal, type 10 11.3
22 arthrogryposis multiplex congenita, neurogenic type 11.1
23 illum syndrome 11.1
24 muscular dystrophy, congenital, producing arthrogryposis 11.1
25 bruck syndrome 1 11.1
26 arthrogryposis, distal, type 1b 11.1
27 arthrogryposis, distal, with impaired proprioception and touch 11.1
28 arthrogryposis-like hand anomaly and sensorineural deafness 10.9
29 whistling face syndrome, recessive form 10.9
30 ehlers-danlos syndrome, musculocontractural type, 1 10.9
31 arthrogryposis multiplex congenita, neurogenic, with myelin defect 10.8
32 typical congenital nemaline myopathy 10.5 ACTA1 TPM2
33 childhood-onset nemaline myopathy 10.5 ACTA1 TPM2
34 fissured tongue 10.4 ECEL1 TNNI2 TNNT3
35 cap myopathy 10.4 ACTA1 TPM2
36 cardiomyopathy, familial hypertrophic, 4 10.4 MYBPC1 MYBPC2
37 tongue disease 10.3 TNNI2 TNNT3
38 congenital structural myopathy 10.3 ACTA1 RYR1 TPM2
39 pectus excavatum 10.2 ADGRG6 PIEZO2
40 strabismus 10.1 ECEL1 NALCN TUBB3
41 cleft palate, isolated 10.1
42 congenital fiber-type disproportion 10.0 ACTA1 RYR1 TNNI2 TNNT3 TPM2
43 myopathy, congenital, with fiber-type disproportion 9.9 ACTA1 RYR1
44 pierre robin syndrome 9.9
45 polyglucosan body myopathy 1 with or without immunodeficiency 9.9
46 hydronephrosis 9.9
47 peripheral nervous system disease 9.9 RAPSN SMN1 TUBB3
48 blood group, i system 9.8
49 aase-smith syndrome i 9.8
50 prader-willi syndrome 9.8

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:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 low-set, posteriorly rotated ears 31 hallmark (90%) HP:0000368
2 depressed nasal ridge 31 hallmark (90%) HP:0000457
3 congenital diaphragmatic hernia 31 hallmark (90%) HP:0000776
4 lymphedema 31 hallmark (90%) HP:0001004
5 gastroschisis 31 hallmark (90%) HP:0001543
6 polyhydramnios 31 hallmark (90%) HP:0001561
7 talipes 31 hallmark (90%) HP:0001883
8 abnormality of the pleura 31 hallmark (90%) HP:0002103
9 scoliosis 31 hallmark (90%) HP:0002650
10 arthrogryposis multiplex congenita 31 hallmark (90%) HP:0002804
11 hip dislocation 31 hallmark (90%) HP:0002827
12 abnormality of the wrist 31 hallmark (90%) HP:0003019
13 abnormality of the gastric mucosa 31 hallmark (90%) HP:0004295
14 aplasia/hypoplasia of the lungs 31 hallmark (90%) HP:0006703
15 ulnar deviation of finger 31 hallmark (90%) HP:0009465

UMLS symptoms related to Distal Arthrogryposis:


ulnar deviation of the wrist, seizures, myalgia, muscle weakness, muscle spasticity, muscle rigidity, muscle cramp, metatarsalgia, arthralgia

MGI Mouse Phenotypes related to Distal Arthrogryposis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.07 TNNT3 TUBB3 ACTA1 ADGRG6 ECEL1 FBN2
2 muscle MP:0005369 9.81 ACTA1 ADGRG6 ECEL1 FBN2 MYH6 RAPSN
3 respiratory system MP:0005388 9.61 ECEL1 FBN2 MYH6 NALCN RAPSN RYR1
4 skeleton MP:0005390 9.23 ACTA1 ADGRG6 ECEL1 FBN2 RYR1 SYNE1

Drugs & Therapeutics for Distal Arthrogryposis

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
Adenosine Approved, Investigational 58-61-7 60961
2
Menthol Approved 2216-51-5 16666
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 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
2 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741

Search NIH Clinical Center for Distal Arthrogryposis

Genetic Tests for Distal Arthrogryposis

Genetic tests related to Distal Arthrogryposis:

# Genetic test Affiliating Genes
1 Distal Arthrogryposis 28
2 Arthrogryposis Multiplex Congenita 28

Anatomical Context for Distal Arthrogryposis

MalaCards organs/tissues related to Distal Arthrogryposis:

38
Lung, Testis, Skeletal Muscle

Publications for Distal Arthrogryposis

Articles related to Distal Arthrogryposis:

(show top 50) (show all 92)
# Title Authors Year
1
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessiveA TNNT3A splice variant. ( 29266598 )
2018
2
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. ( 27782104 )
2017
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
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
Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. ( 27214504 )
2016
6
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. ( 27974811 )
2016
7
ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis. ( 26951213 )
2016
8
Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. ( 27790376 )
2016
9
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. ( 25712306 )
2015
10
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
11
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. ( 26374086 )
2015
12
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
13
AMC: amyoplasia and distal arthrogryposis. ( 26537820 )
2015
14
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. ( 25099528 )
2014
15
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis. ( 25337069 )
2014
16
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. ( 24726473 )
2014
17
Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. ( 24782201 )
2014
18
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. ( 23657818 )
2013
19
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
20
Mutations in ECEL1 cause distal arthrogryposis type 5D. ( 23261301 )
2013
21
Corneal Impairment in a Patient With Type 2 Distal Arthrogryposis. ( 24296953 )
2013
22
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. ( 23401156 )
2013
23
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. ( 23487782 )
2013
24
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. ( 23829171 )
2013
25
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. ( 23236030 )
2013
26
Distal arthrogryposis: clinical and genetic findings. ( 22519952 )
2012
27
A de novo 1.13A Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism. ( 22534424 )
2012
28
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. ( 21531865 )
2011
29
7A Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). ( 21722758 )
2011
30
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
31
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. ( 20045868 )
2010
32
Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report. ( 20090872 )
2009
33
Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5. ( 19213027 )
2009
34
Distal arthrogryposis syndrome. ( 20300297 )
2008
35
Early results of the Ponseti method for the treatment of clubfoot in distal arthrogryposis. ( 18594099 )
2008
36
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. ( 18695058 )
2008
37
Pulmonary disease is a component of distal arthrogryposis type 5. ( 17345626 )
2007
38
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. ( 17194691 )
2007
39
Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound. ( 17385787 )
2007
40
Bilateral discoid medial menisci accompanied by distal arthrogryposis: a case report. ( 16983564 )
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
Mitochondrial mutation in a child with distal arthrogryposis. ( 16353243 )
2006
44
A TNNI2 mutation in a family with distal arthrogryposis type 2B. ( 16497570 )
2006
45
A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. ( 16802141 )
2006
46
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. ( 17103435 )
2006
47
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. ( 16924011 )
2006
48
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. ( 17101001 )
2006
49
Distal arthrogryposis type 2A may be associated with juvenile glaucoma. ( 16278894 )
2005
50
Re: distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.]. ( 16001435 )
2005

Variations for Distal Arthrogryposis

ClinVar genetic disease variations for Distal Arthrogryposis:

6
# 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 MYH3 NM_002470.3(MYH3): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs121913617 GRCh37 Chromosome 17, 10544634: 10544634
3 MYH3 NM_002470.3(MYH3): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs121913618 GRCh37 Chromosome 17, 10544635: 10544635
4 MYH3 NM_002470.3(MYH3): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs121913619 GRCh37 Chromosome 17, 10553691: 10553691
5 MYH3 NM_002470.3(MYH3): c.2474T> A (p.Val825Asp) single nucleotide variant Pathogenic rs121913620 GRCh37 Chromosome 17, 10543521: 10543521
6 ADGRG6 NM_198569.2(ADGRG6): c.19C> T (p.Arg7Ter) single nucleotide variant Pathogenic rs749355583 GRCh37 Chromosome 6, 142630697: 142630697
7 ADGRG6 NM_020455.5(ADGRG6): c.2144dupG (p.Gln716Thrfs) duplication Pathogenic rs793888524 GRCh37 Chromosome 6, 142726841: 142726841
8 ADGRG6 NM_198569.2(ADGRG6): c.2306T> A (p.Val769Glu) single nucleotide variant Pathogenic rs793888525 GRCh37 Chromosome 6, 142729324: 142729324
9 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183delAGA (p.Glu2727del) deletion Pathogenic rs587777077 GRCh37 Chromosome 18, 10671600: 10671602
10 RYR1 NM_000540.2(RYR1): c.10620C> G (p.Tyr3540Ter) single nucleotide variant Pathogenic rs758247804 GRCh38 Chromosome 19, 38525496: 38525496

Expression for Distal Arthrogryposis

Search GEO for disease gene expression data for Distal Arthrogryposis.

Pathways for Distal Arthrogryposis

Pathways related to Distal Arthrogryposis according to KEGG:

36
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260
2 Tight junction hsa04530

GO Terms for Distal Arthrogryposis

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.62 MYBPC1 MYBPC2 MYH6 SMN1
2 myofibril GO:0030016 9.56 MYBPC1 MYH3 MYH6 MYH8
3 sarcomere GO:0030017 9.55 ACTA1 MYH3 MYH6 MYH8 SYNE1
4 myosin complex GO:0016459 9.54 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:

(show all 11)
# 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 muscle contraction GO:0006936 9.5 ACTA1 MYBPC1 MYBPC2 MYH6 MYH8 RYR1
7 regulation of muscle contraction GO:0006937 9.49 TNNI2 TNNT3
8 actin filament-based movement GO:0030048 9.48 MYH3 MYH6
9 skeletal muscle contraction GO:0003009 9.46 MYH3 MYH8 TNNI2 TNNT3
10 striated muscle myosin thick filament assembly GO:0071688 9.43 MYBPC1 MYBPC2
11 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:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.7 MYH3 MYH6 MYH8 SYNE1 TNNI2 TNNT3
2 calmodulin binding GO:0005516 9.67 MYH3 MYH6 MYH8 RYR1
3 motor activity GO:0003774 9.61 MYH3 MYH6 MYH8
4 structural constituent of muscle GO:0008307 9.56 MYBPC1 MYBPC2 MYH8 TPM2
5 microfilament motor activity GO:0000146 9.5 MYH3 MYH6 MYH8
6 muscle alpha-actinin binding GO:0051371 9.46 MYBPC1 MYBPC2
7 structural molecule activity conferring elasticity GO:0097493 9.4 MYBPC1 MYBPC2
8 actin filament binding GO:0051015 9.17 MYBPC1 MYBPC2 MYH3 MYH6 MYH8 SYNE1
9 myosin phosphatase activity GO:0017018 9.13 MYH3 MYH6 MYH8

Sources for Distal Arthrogryposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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