MCID: DST002
MIFTS: 55

Distal Arthrogryposis malady

Fetal diseases category

Summaries for Distal Arthrogryposis

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Arthrogryposis multiplex congenita (amc) is a group of nonprogressive conditions that cause multiple joint contractures (stiff joints) and abnormal muscle development. the signs and symptoms of amc are present at birth but can vary greatly in severity. the exact cause of amc is not fully understood, but it is thought to be associated with decreased movement or limited space in utero, connective tissue disorders, or maternal illness. sometimes amc occurs as part of genetic syndrome. treatment focuses on the specific symptoms experienced by each individual and may include physical therapy, removable splints, exercise, or surgery. last updated: 12/18/2012

MalaCards: Distal Arthrogryposis, also known as arthrogryposis multiplex congenita, is related to distal arthrogryposis type 5 and trismus-pseudocamptodactyly syndrome, and has symptoms including global upper and lower limbs anomalies, ulnar deviation of fingers and diaphragmatic hernia/defect/agenesis. An important gene associated with Distal Arthrogryposis is TNNI2 (troponin I type 2 (skeletal, fast)), and among its related pathways are EphrinA-EphR Signaling and Development Slit-Robo signaling. The compounds (r)-(+)-blebbistatin and (s)-(-)-blebbistatin have been mentioned in the context of this disorder. Affiliated tissues include lung, testis and skeletal muscle.

Description from OMIM:46 601680,193700,108120,108110

Aliases & Classifications for Distal Arthrogryposis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 22GTR, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases


Characteristics (Orphanet epidemiological data):

48
arthrogryposis multiplex congenita:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic,X-linked recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

distal arthrogryposis 8 22 10
arthrogryposis multiplex congenita 8 42 22 48 46 60
arthrogryposis 42 44
fibrous ankylosis of multiple joints 42
congenital multiple arthrogryposis 42
arthrogryposis, distal, type 2b 60
distal arthrogryposis syndrome 60
congenital arthromyodysplasia 42
sheldon-hall syndrome 8
guerin-stern syndrome 42
amyoplasia congenita 48
myodysplasia 48


External Ids:

Disease Ontology8 DOID:0050646
ICD10 via Orphanet26 Q74.3
SNOMED-CT via Orphanet57 77016009
UMLS via Orphanet61 C2931264
MESH via Orphanet35 C536613

Related Diseases for Distal Arthrogryposis

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Distal Arthrogryposis Type 5 family:

distal arthrogryposis Arthrogryposis Distal Type 2b
Arthrogryposis, Distal, Type 2e Arthrogryposis, Distal, Type 1b
Arthrogryposis, Distal, Type 5d Distal Arthrogryposis Type 10

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

(show top 50)    (show all 178)
idRelated DiseaseScoreTop Affiliating Genes
1distal arthrogryposis type 530.7TPM2, MYH3
2trismus-pseudocamptodactyly syndrome30.4MYH8
3myopathy30.4MYH6, MYH2, ACTA1, TPM2
4clubfoot30.0TPM2, TNNI2, TNNC2, TNNT3, MYH3
5dilated cardiomyopathy30.0MYBPC2, MYBPC1, MYH6
6ophthalmoplegia30.0MYH3, MYH2, MYH8
7nemaline myopathy29.7ACTA1, TPM2
8arthrogryposis multiplex congenita neurogenic type10.7
9arthrogryposis multiplex congenita whistling face10.6
10arthrogryposis multiplex congenita distal type 110.6
11arthrogryposis distal type 2b10.5
12arthrogryposis multiplex congenita pulmonary hypoplasia10.5
13autosomal recessive myogenic arthrogryposis multiplex congenita10.5
14muscular dystrophy10.5
15arthrogryposis multiplex congenita, distal, x-linked10.5
16antenatal multiminicore disease with arthrogryposis multiplex congenita10.5
17arthrogryposis with oculomotor limitation and electroretinal anomalies10.4
18pseudohypoaldosteronism type ii10.4
19arthrogryposis, distal, type 5d10.4
20hydranencephaly10.4
21neurogenic bladder10.4
22arc syndrome10.4
23congenital muscular dystrophy10.4
24neuromuscular disease10.4
25neuropathy10.4
26arthrogryposis multiplex congenita cns calcification10.4
27myh3-related arthrogryposis multiplex congenita, distal, type 2b10.4
28tnni2-related arthrogryposis multiplex congenita, distal, type 2b10.4
29tnnt3-related arthrogryposis multiplex congenita, distal, type 2b10.4
30tpm2-related arthrogryposis multiplex congenita, distal, type 2b10.4
31freeman sheldon syndrome10.4
32arthrogryposis - severe scoliosis10.4
33cleft palate10.3
34arthrogryposis-like hand anomaly and sensorineural deafness10.3
35distal arthrogryposis type 1010.3
36malignant hyperthermia arthrogryposis torticollis10.3
37pelvic dysplasia arthrogryposis of lower limbs10.3
38distal arthrogryposis moore weaver type10.3
39larsen syndrome10.2
40congenital myasthenic syndrome10.2
41polydactyly10.2
42cleft lip10.2
43duchenne muscular dystrophy10.2
44muscular atrophy10.2
45osteogenesis imperfecta10.2
46potter's syndrome10.2
47charcot-marie-tooth disease10.2
48cholestasis10.2
49peripheral neuropathy10.2
50spinal muscular atrophy10.2

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



Diseases related to distal arthrogryposis

Clinical Features for Distal Arthrogryposis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

601680,193700,108120,108110

Clinical synopsis from OMIM:

108110

Symptoms:

48 (show all 14)
  • global upper and lower limbs anomalies
  • ulnar deviation of fingers
  • diaphragmatic hernia/defect/agenesis
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • polyhydramnios
  • flattened nose
  • talipes-varus/metatarsal varus
  • lymphedema
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • wrist/carpal anomalies
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • scoliosis
  • low set ears/posteriorly rotated ears

Drugs & Therapeutics for Distal Arthrogryposis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Distal Arthrogryposis

Drug clinical trials:

Search ClinicalTrials for Distal Arthrogryposis

Search NIH Clinical Center for Distal Arthrogryposis

Search CenterWatch for Distal Arthrogryposis

Genetic Tests for Distal Arthrogryposis

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Sources:
22GTR
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Genetic tests related to Distal Arthrogryposis:

id Genetic test Affiliating Genes
1 Arthrogryposis Multiplex Congenita22
2 Distal Arthrogryposis22

Anatomical Context for Distal Arthrogryposis

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32MalaCards
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MalaCards organs/tissues related to Distal Arthrogryposis:

32
Lung, Testis, Skeletal muscle

Animal Models for Distal Arthrogryposis or affiliated genes

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Publications for Distal Arthrogryposis

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Sources:
50PubMed
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Articles related to Distal Arthrogryposis:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. (23829171)
2013
2
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. (23657818)
2013
3
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. (23236030)
2013
4
Corneal Impairment in a Patient With Type 2 Distal Arthrogryposis. (24296953)
2013
5
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. (23401156)
2013
6
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
7
Distal arthrogryposis: clinical and genetic findings. (22519952)
2012
8
A de novo 1.13A Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism. (22534424)
2012
9
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. (21531865)
2011
10
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
11
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. (20045868)
2010
12
Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5. (19213027)
2009
13
Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report. (20090872)
2009
14
Distal arthrogryposis syndrome. (20300297)
2008
15
Early results of the Ponseti method for the treatment of clubfoot in distal arthrogryposis. (18594099)
2008
16
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. (17380469)
2007
17
Pulmonary disease is a component of distal arthrogryposis type 5. (17345626)
2007
18
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. (17194691)
2007
19
Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound. (17385787)
2007
20
Mitochondrial mutation in a child with distal arthrogryposis. (16353243)
2006
21
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. (17103435)
2006
22
A TNNI2 mutation in a family with distal arthrogryposis type 2B. (16497570)
2006
23
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. (16924011)
2006
24
Re: distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.]. (16001435)
2005
25
A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome. (16278891)
2005
26
Distal arthrogryposis type IIB: unreported ophthalmic findings. (15103714)
2004
27
Prenatal diagnosis of mosaic tetrasomy 10p associated with megacisterna magna, echogenic focus of left ventricle, umbilical cord cysts and distal arthrogryposis. (12599193)
2003
28
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (12865991)
2003
29
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. (12592607)
2003
30
Arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, polydactyly and Hirschprung's disease. (12164038)
2001
31
Ocular findings in distal arthrogryposis. (11455953)
2001
32
Progressive neurological deterioration in a child with distal arthrogryposis and whistling face. (10777369)
2000
33
Cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant? (10327254)
1999
34
Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome? (9689995)
1998
35
Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion. (9788726)
1998
36
Extending the spectrum of distal arthrogryposis. (8923937)
1996
37
Distal arthrogryposis type 1: clinical analysis of a large kindred. (8923936)
1996
38
Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case. (8533802)
1995
39
Dominant distal arthrogryposis in a Maori family with marked variability of expression. (7762579)
1995
40
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. (7977374)
1994
41
Distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: another case. (1488995)
1992
42
Prenatal diagnosis of distal arthrogryposis type I by ultrasonography. (1287640)
1992
43
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1723604)
1991
44
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. (2063898)
1991
45
Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs. (2240046)
1990
46
Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II? (2764034)
1989
47
Prenatal diagnosis of distal arthrogryposis. (3287922)
1988
48
Distal arthrogryposis type II D in three generations of a Brazilian family. (3565478)
1987
49
Distal arthrogryposis type II: a family with varying congenital abnormalities. (3717209)
1986
50
An unusual distal arthrogryposis. (3993671)
1985

Genetic Variations for Distal Arthrogryposis

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Expression for genes affiliated with Distal Arthrogryposis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Distal Arthrogryposis

Search GEO for disease gene expression data for Distal Arthrogryposis.

Pathways for genes affiliated with Distal Arthrogryposis

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51QIAGEN, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 53Reactome
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Pathways related to Distal Arthrogryposis according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0ACTA1, CFL2
2
Development Slit-Robo signaling
Hide members
9.8ACTA1, TUBA8, CFL2
39.6MYH2, MYH6, MYH3, MYH8
4
Hide members
9.6MYH2, MYH8, MYH6, MYH3
5
Immune response CCR3 signaling in eosinophils
Hide members
9.4MYH3, MYH6, MYH2, CFL2, MYH8
69.4CFL2, MYH3, MYH8, MYH6, MYH2
7
Hide members
9.3MYH8, MYH3, MYH6, MYH2, ACTA1
8
Hide members
9.3MYH3, MYH2, MYH8, MYH6, ACTA1
9
Hide members
9.1ACTA1, CFL2, MYH2, MYH6, MYH8, MYH3
10
Hide members
9.1MYH6, ACTA1, CFL2, MYH2, MYH3, MYH8
11
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
9.1MYH6, MYH3, ACTA1, CFL2, MYH8, MYH2
12
Hide members
8.9MYH3, TUBA8, MYH8, MYH2, CFL2, MYH6
13
Hide members
8.9MYH3, MYH8, MYH6, MYH2, CFL2, ACTA1
14
Hide members
8.9TUBA8, MYH3, MYH8, ACTA1, MYH2, CFL2
15
Hide members
8.5MYH8, MYBPC1, MYBPC2, TNNI2, TNNC2, TNNT3

Compounds for genes affiliated with Distal Arthrogryposis

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Sources:
59Tocris Bioscience, 44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Distal Arthrogryposis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(r)-(+)-blebbistatin599.6MYH3, MYH2, MYH6, MYH8
2(s)-(-)-blebbistatin599.6MYH6, MYH8, MYH3, MYH2
3bts599.5MYH2, MYH6, MYH8, MYH3
4(+-)-blebbistatin599.3MYH3, MYH8, MYH6, MYH2
5calcium44 49 11 2411.8ACTA1, MYH2, MYH6, MYBPC1, TNNT3, TNNC2

GO Terms for genes affiliated with Distal Arthrogryposis

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16Gene Ontology
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Cellular components related to Distal Arthrogryposis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1troponin complexGO:0058619.9TNNT3, TNNC2, TNNI2
2focal adhesionGO:0059259.8MYH2, MYH6, MYH8
3muscle myosin complexGO:0058599.7MYH8, MYH6, MYH2
4myofibrilGO:0300169.5MYH3, MYH8, MYBPC1, MYH6, MYH2
5sarcomereGO:0300179.5ACTA1, MYH2, MYH6
6myosin filamentGO:0329829.4MYH2, MYH6, MYBPC1, MYBPC2, MYH8, MYH3
7cytosolGO:0058298.0TNNI2, TNNC2, TNNT3, MYH3, MYH8, MYBPC2

Biological processes related to Distal Arthrogryposis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle contractionGO:0030099.9TNNT3, TNNC2, TNNI2
2regulation of ATPase activityGO:0434629.8TNNT3, MYH6, TPM2
3muscle contractionGO:0069369.1TPM2, ACTA1, MYH2, MYH6, MYH8
4muscle filament slidingGO:0300498.2TPM2, TNNI2, TNNC2, TNNT3, MYH3, MYH8

Molecular functions related to Distal Arthrogryposis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calmodulin bindingGO:0055169.6MYH2, MYH6, MYH8, MYH3
2microfilament motor activityGO:0001469.5MYH3, MYH6, MYH2
3structural constituent of muscleGO:0083079.2MYH8, MYBPC2, MYBPC1, MYH6, MYH2, TPM2
4actin bindingGO:0037798.3TPM2, TNNI2, TNNC2, TNNT3, MYH3, MYH8

Products for genes affiliated with Distal Arthrogryposis

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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet