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 polyhydramnios, hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana and lymphedema. 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 lung, testis and skeletal muscle.

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

Aliases & Classifications for Distal Arthrogryposis

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

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
Mutations in ECEL1 cause distal arthrogryposis type 5D. (23261301)
2013
2
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. (23487782)
2013
3
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. (23236030)
2013
4
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
5
7A Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). (21722758)
2011
6
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
7
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. (20045868)
2010
8
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. (18695058)
2008
9
Distal arthrogryposis syndrome. (20300297)
2008
10
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. (17339586)
2007
11
Bilateral discoid medial menisci accompanied by distal arthrogryposis: a case report. (16983564)
2007
12
Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound. (17385787)
2007
13
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. (17103435)
2006
14
A TNNI2 mutation in a family with distal arthrogryposis type 2B. (16497570)
2006
15
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. (17101001)
2006
16
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. (16924011)
2006
17
A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. (16802141)
2006
18
Distal arthrogryposis type 2A may be associated with juvenile glaucoma. (16278894)
2005
19
A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome. (16278891)
2005
20
Distal arthrogryposis and neonatal hypotonia: an unusual presentation of Prader-Willi syndrome (PWS). (15510104)
2004
21
Distal arthrogryposis in two sisters born to different fathers. (14755476)
2004
22
Velocardiofacial syndrome presenting as distal arthrogryposis. (15346917)
2004
23
Distal arthrogryposis type IIB: unreported ophthalmic findings. (15103714)
2004
24
Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia. (15389706)
2004
25
Prenatal diagnosis of mosaic tetrasomy 10p associated with megacisterna magna, echogenic focus of left ventricle, umbilical cord cysts and distal arthrogryposis. (12599193)
2003
26
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (12865991)
2003
27
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. (11152147)
2001
28
Arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, polydactyly and Hirschprung's disease. (12164038)
2001
29
Ocular findings in distal arthrogryposis. (11455953)
2001
30
Distal arthrogryposis: a new type with distinct facial appearance and absent teeth. (11432965)
2001
31
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
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
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene. (9727748)
1998
37
Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome? (9689995)
1998
38
Proteus syndrome and distal arthrogryposis. (9457508)
1997
39
Familial distal arthrogryposis type I. (8766137)
1996
40
Dominant distal arthrogryposis in a Maori family with marked variability of expression. (7762579)
1995
41
Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome. (8370149)
1993
42
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1723604)
1991
43
Syndrome of mental retardation and distal arthrogryposis in sibs. (1951463)
1991
44
Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II? (2764034)
1989
45
Prenatal diagnosis of distal arthrogryposis. (3287922)
1988
46
Distal arthrogryposis type II D in three generations of a Brazilian family. (3565478)
1987
47
Distal arthrogryposis type II: a family with varying congenital abnormalities. (3717209)
1986
48
The heterogeneity of distal arthrogryposis. (6091488)
1984
49
Distal arthrogryposis type IIB in a girl: autosomal recessive inheritance? (6535857)
1984
50
Autosomal-dominant inheritance of distal arthrogryposis. (7446562)
1980

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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Sources:
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, 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
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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

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

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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  • Antibodies
  • Proteins
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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