MCID: DST002
MIFTS: 52

Distal Arthrogryposis malady

Fetal category

Summaries for Distal Arthrogryposis

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

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NIH Rare Diseases:43 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 low set ears/posteriorly rotated ears, scoliosis and hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana. 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 (+-)-blebbistatin and (r)-(+)-blebbistatin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and testis.

Description from OMIM:47 601680,193700,108120,108110

Aliases & Classifications for Distal Arthrogryposis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 22 49 47 61
arthrogryposis 43 45
fibrous ankylosis of multiple joints 43
congenital multiple arthrogryposis 43
arthrogryposis, distal, type 2b 61
distal arthrogryposis syndrome 61
congenital arthromyodysplasia 43
sheldon-hall syndrome 8
guerin-stern syndrome 43
amyoplasia congenita 49
myodysplasia 49


External Ids:

Disease Ontology8 DOID:0050646
ICD10 via Orphanet26 Q74.3
SNOMED-CT via Orphanet58 77016009
UMLS via Orphanet62 C2931264
MESH via Orphanet36 C536613

Related Diseases for Distal Arthrogryposis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the distal arthrogryposis type 5 family:

distal arthrogryposis arthrogryposis distal type 2b
arthrogryposis, distal, type 2e arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
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 196)
idRelated DiseaseScoreTop Affiliating Genes
1distal arthrogryposis type 530.7MYH3, TPM2
2trismus-pseudocamptodactyly syndrome30.4MYH8
3clubfoot30.0TPM2, MYH3, TNNT3, TNNC2, TNNI2
4nemaline myopathy29.7TPM2, ACTA1
5myopathy congenital29.7ACTA1, MYH6
6arthrogryposis multiplex congenita neurogenic type10.6
7arthrogryposis multiplex congenita whistling face10.6
8arthrogryposis multiplex congenita distal type 110.6
9arthrogryposis distal type 2b10.5
10arthrogryposis multiplex congenita pulmonary hypoplasia10.5
11arthrogryposis multiplex congenita, distal, x-linked10.5
12antenatal multiminicore disease with arthrogryposis multiplex congenita10.5
13autosomal recessive myogenic arthrogryposis multiplex congenita10.5
14arthrogryposis with oculomotor limitation and electroretinal anomalies10.5
15pseudohypoaldosteronism type ii10.4
16mental retardation10.4
17arthrogryposis, distal, type 5d10.4
18hydranencephaly10.4
19larsen syndrome10.4
20neurogenic bladder10.4
21arthrogryposis multiplex congenita cns calcification10.4
22myh3-related arthrogryposis multiplex congenita, distal, type 2b10.4
23tnni2-related arthrogryposis multiplex congenita, distal, type 2b10.4
24tnnt3-related arthrogryposis multiplex congenita, distal, type 2b10.4
25tpm2-related arthrogryposis multiplex congenita, distal, type 2b10.4
26freeman sheldon syndrome10.4
27arthrogryposis - severe scoliosis10.4
28cleft palate10.3
29arthrogryposis-like hand anomaly and sensorineural deafness10.3
30distal arthrogryposis type 1010.3
31malignant hyperthermia arthrogryposis torticollis10.3
32pelvic dysplasia arthrogryposis of lower limbs10.3
33arthrogryposis multiplex congenita distal10.3
34fetal akinesia deformation sequence10.3
35distal arthrogryposis moore weaver type10.3
36friedreich ataxia10.2
37congenital myasthenic syndrome10.2
38polydactyly10.2
39duchenne muscular dystrophy10.2
40muscular atrophy10.2
41osteogenesis imperfecta10.2
42arc syndrome10.2
43potter's syndrome10.2
44spinal muscular atrophy10.2
45tooth disease10.2
46polymicrogyria10.2
47arthrogryposis epileptic seizures migrational brain disorder10.2
48massa casaer ceulemans syndrome10.2
49escobar syndrome, type b10.2
50arthrogryposis spinal muscular atrophy10.2

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



Diseases related to distal arthrogryposis

Clinical Features for Distal Arthrogryposis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

601680,193700,108120,108110

Clinical synopsis from OMIM:

108110

Symptoms:

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

Drugs & Therapeutics for Distal Arthrogryposis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Distal Arthrogryposis:

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

Anatomical Context for Distal Arthrogryposis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Distal Arthrogryposis:

33
Skeletal muscle, Testis

Animal Models for Distal Arthrogryposis or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Distal Arthrogryposis

Sources:
51PubMed
See all sources

Articles related to Distal Arthrogryposis:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. (23487782)
2013
2
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. (23829171)
2013
3
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. (23657818)
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
7A Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). (21722758)
2011
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
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. (18695058)
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
Mitochondrial mutation in a child with distal arthrogryposis. (16353243)
2006
20
A TNNI2 mutation in a family with distal arthrogryposis type 2B. (16497570)
2006
21
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. (16924011)
2006
22
Distal arthrogryposis type 2A may be associated with juvenile glaucoma. (16278894)
2005
23
Re: distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.]. (16001435)
2005
24
Distal arthrogryposis in two sisters born to different fathers. (14755476)
2004
25
Velocardiofacial syndrome presenting as distal arthrogryposis. (15346917)
2004
26
Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia. (15389706)
2004
27
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. (12592607)
2003
28
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. (11152147)
2001
29
Distal arthrogryposis: a new type with distinct facial appearance and absent teeth. (11432965)
2001
30
Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis? (10766984)
2000
31
Progressive neurological deterioration in a child with distal arthrogryposis and whistling face. (10777369)
2000
32
Cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant? (10327254)
1999
33
Prenatal diagnosis of distal arthrogryposis type 1. (10384996)
1999
34
A family with autosomal dominant distal arthrogryposis multiplex congenita and brown syndrome. (10617921)
1999
35
Distal arthrogryposis type IIB: probable autosomal recessive inheritance. (10466425)
1999
36
Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome? (9689995)
1998
37
Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion. (9788726)
1998
38
Familial distal arthrogryposis type I. (8766137)
1996
39
Extending the spectrum of distal arthrogryposis. (8923937)
1996
40
Distal arthrogryposis type 1: clinical analysis of a large kindred. (8923936)
1996
41
Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case. (8533802)
1995
42
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. (7977374)
1994
43
Distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: another case. (1488995)
1992
44
Prenatal diagnosis of distal arthrogryposis type I by ultrasonography. (1287640)
1992
45
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1723604)
1991
46
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. (2063898)
1991
47
Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs. (2240046)
1990
48
Distal arthrogryposis type II: a family with varying congenital abnormalities. (3717209)
1986
49
An unusual distal arthrogryposis. (3993671)
1985
50
Autosomal-dominant inheritance of distal arthrogryposis. (7446562)
1980

Genetic Variations for Distal Arthrogryposis

Expression for genes affiliated with Distal Arthrogryposis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 54Reactome
See all sources

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, CFL2, TUBA8
39.6MYH2, MYH6, MYH8, MYH3
4
Hide members
9.6MYH3, MYH8, MYH6, MYH2
5
Immune response CCR3 signaling in eosinophils
Hide members
9.4MYH3, MYH8, MYH6, MYH2, CFL2
69.4MYH3, MYH8, MYH6, MYH2, CFL2
7
Hide members
9.3MYH3, MYH8, MYH6, MYH2, ACTA1
8
Hide members
9.3MYH3, MYH8, MYH6, MYH2, ACTA1
9
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
9.1MYH3, MYH8, MYH6, MYH2, CFL2, ACTA1
10
Hide members
9.1MYH3, MYH8, MYH6, MYH2, CFL2, ACTA1
11
Hide members
9.1MYH3, MYH8, MYH6, MYH2, CFL2, ACTA1
12
Hide members
8.9TUBA8, MYH3, MYH8, MYH6, MYH2, CFL2
13
Hide members
8.9TUBA8, MYH3, MYH8, MYH6, MYH2, CFL2
14
Hide members
8.9TUBA8, MYH3, MYH8, MYH6, MYH2, CFL2
15
Hide members
8.5TPM2, TNNI2, TNNC2, TNNT3, MYH3, MYH8

Compounds for genes affiliated with Distal Arthrogryposis

Sources:
60Tocris Bioscience, 45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
See all sources

Compounds related to Distal Arthrogryposis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(+-)-blebbistatin609.6MYH2, MYH6, MYH8, MYH3
2(r)-(+)-blebbistatin609.6MYH3, MYH8, MYH6, MYH2
3bts609.5MYH3, MYH8, MYH6, MYH2
4(s)-(-)-blebbistatin609.3MYH3, MYH2, MYH6, MYH8
5calcium45 50 11 2411.8TNNC2, TNNT3, MYBPC1, MYH6, MYH2, ACTA1

GO Terms for genes affiliated with Distal Arthrogryposis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Distal Arthrogryposis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet