AMC
MCID: DST002
MIFTS: 54

Distal Arthrogryposis (AMC) malady

Genetic diseases, Rare diseases, Fetal diseases, Muscle diseases, Oral diseases categories

Summaries for Distal Arthrogryposis

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 clubfoot, 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 is Striated Muscle Contraction. The compound calcium have been mentioned in the context of this disorder. Affiliated tissues include lung, testis and skeletal muscle.

Wikipedia:66 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Description from OMIM:48 108120,601680,193700,108110

Aliases & Classifications for Distal Arthrogryposis

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 23GTR, 11DISEASES, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 9 23 11
arthrogryposis multiplex congenita 9 44 23 50 48 63
congenital arthromyodysplasia 44 50
arthrogryposis 44 46
fibrous ankylosis of multiple joints 44
multiple congenital arthrogryposis 50
congenital multiple arthrogryposis 44
myodystrophia fetalis deformans 44
arthrogryposis, distal, type 2b 63
distal arthrogryposis syndrome 63
arthromyodysplasia congenita 50
rocher-sheldon syndrome 44
guérin-stern syndrome 44
guerin-stern syndrome 44
congenital amyoplasia 50
sheldon-hall syndrome 9
amyoplasia congenita 50
rossi syndrome 44
otto syndrome 44
myodysplasia 50
amc 50


External Ids:

Disease Ontology9 DOID:0050646
ICD10 via Orphanet27 Q74.3
SNOMED-CT via Orphanet60 77016009
UMLS via Orphanet64 C2931264
MESH via Orphanet37 C536613

Related Diseases for Distal Arthrogryposis

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Sources:
18GeneCards, 19GeneDecks
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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 10 Arthrogryposis, Distal, Type 5d

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

(show top 50)    (show all 205)
idRelated DiseaseScoreTop Affiliating Genes
1distal arthrogryposis type 531.0TNNT3, TNNI2
2clubfoot30.0TNNT3, TPM2, TNNI2
3dilated cardiomyopathy30.0MYBPC1, MYBPC2
4nemaline myopathy29.7TPM2, TNNT3, TNNI2
5arthrogryposis multiplex congenita neurogenic type10.7
6arthrogryposis multiplex congenita whistling face10.7
7arthrogryposis multiplex congenita distal type 110.6
8arthrogryposis multiplex congenita pulmonary hypoplasia10.6
9autosomal recessive myogenic arthrogryposis multiplex congenita10.6
10muscular dystrophy10.5
11arthrogryposis multiplex congenita, distal, x-linked10.5
12antenatal multiminicore disease with arthrogryposis multiplex congenita10.5
13pseudohypoaldosteronism type ii10.5
14mental retardation10.4
15arthrogryposis, distal, type 5d10.4
16hydranencephaly10.4
17neurogenic bladder10.4
18arc syndrome10.4
19congenital muscular dystrophy10.4
20neuropathy10.4
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 palate10.4
29arthrogryposis-like hand anomaly and sensorineural deafness10.4
30richieri-costa colletto otto syndrome10.3
31malignant hyperthermia arthrogryposis torticollis10.3
32pelvic dysplasia arthrogryposis of lower limbs10.3
33arthrogryposis distal type 2b10.3
34myopathy10.3
35distal arthrogryposis moore weaver type10.3
36fetal akinesia deformation sequence10.3
37trismus-pseudocamptodactyly syndrome10.3
38lethal arthrogryposis with anterior horn cell disease10.3
39polydactyly10.3
40cleft lip10.3
41duchenne muscular dystrophy10.3
42muscular atrophy10.3
43potter's syndrome10.3
44larsen syndrome10.3
45congenital myasthenic syndrome10.3
46osteogenesis imperfecta10.3
47charcot-marie-tooth disease10.3
48cholestasis10.3
49neuromuscular disease10.3
50peripheral neuropathy10.3

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



Diseases related to distal arthrogryposis

Symptoms for Distal Arthrogryposis

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

108110

Clinical features from OMIM:

108120,601680,193700,108110

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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23GTR
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Genetic tests related to Distal Arthrogryposis:

id Genetic test Affiliating Genes
1 Arthrogryposis Multiplex Congenita23
2 Distal Arthrogryposis23

Anatomical Context for Distal Arthrogryposis

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34MalaCards
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MalaCards organs/tissues related to Distal Arthrogryposis:

34
Lung, Testis, Skeletal muscle

Animal Models for Distal Arthrogryposis or affiliated genes

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Publications for Distal Arthrogryposis

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53PubMed
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Articles related to Distal Arthrogryposis:

(show top 50)    (show all 75)
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
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. (23829171)
2013
4
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. (23657818)
2013
5
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. (23236030)
2013
6
Distal arthrogryposis: clinical and genetic findings. (22519952)
2012
7
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. (21531865)
2011
8
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
9
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. (20045868)
2010
10
Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5. (19213027)
2009
11
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. (18695058)
2008
12
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. (17339586)
2007
13
Bilateral discoid medial menisci accompanied by distal arthrogryposis: a case report. (16983564)
2007
14
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. (17380469)
2007
15
Mitochondrial mutation in a child with distal arthrogryposis. (16353243)
2006
16
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. (17103435)
2006
17
A TNNI2 mutation in a family with distal arthrogryposis type 2B. (16497570)
2006
18
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. (17101001)
2006
19
Distal arthrogryposis type 2A may be associated with juvenile glaucoma. (16278894)
2005
20
Re: distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.]. (16001435)
2005
21
Distal arthrogryposis and neonatal hypotonia: an unusual presentation of Prader-Willi syndrome (PWS). (15510104)
2004
22
Distal arthrogryposis in two sisters born to different fathers. (14755476)
2004
23
Prenatal diagnosis of mosaic tetrasomy 10p associated with megacisterna magna, echogenic focus of left ventricle, umbilical cord cysts and distal arthrogryposis. (12599193)
2003
24
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (12865991)
2003
25
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. (11152147)
2001
26
Ocular findings in distal arthrogryposis. (11455953)
2001
27
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
28
Progressive neurological deterioration in a child with distal arthrogryposis and whistling face. (10777369)
2000
29
Cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant? (10327254)
1999
30
Prenatal diagnosis of distal arthrogryposis type 1. (10384996)
1999
31
A family with autosomal dominant distal arthrogryposis multiplex congenita and brown syndrome. (10617921)
1999
32
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene. (9727748)
1998
33
Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome? (9689995)
1998
34
Proteus syndrome and distal arthrogryposis. (9457508)
1997
35
Familial distal arthrogryposis type I. (8766137)
1996
36
Extending the spectrum of distal arthrogryposis. (8923937)
1996
37
Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case. (8533802)
1995
38
Dominant distal arthrogryposis in a Maori family with marked variability of expression. (7762579)
1995
39
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. (7977374)
1994
40
Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome. (8370149)
1993
41
Distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: another case. (1488995)
1992
42
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1723604)
1991
43
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. (2063898)
1991
44
Syndrome of mental retardation and distal arthrogryposis in sibs. (1951463)
1991
45
Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II? (2764034)
1989
46
Prenatal diagnosis of distal arthrogryposis. (3287922)
1988
47
Distal arthrogryposis type II D in three generations of a Brazilian family. (3565478)
1987
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

Variations for Distal Arthrogryposis

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Distal Arthrogryposis:

1
id Gene Name Type Significance SNP ID Assembly Location
1TNNI2NM_003282.3(TNNI2): c.521G> A (p.Arg174Gln)single nucleotide variantPathogenicrs104894311GRCh37Chr 11, 1862753: 1862753
2TNNI2NM_003282.3(TNNI2): c.466C> T (p.Arg156Ter)single nucleotide variantPathogenicrs104894312GRCh37Chr 11, 1862698: 1862698
3TNNI2NM_003282.3(TNNI2): c.499_501delGAG (p.Glu167del)deletionPathogenicrs199474800GRCh37Chr 11, 1862731: 1862733
4TPM2NM_003289.3(TPM2): c.397C> T (p.Arg133Trp)single nucleotide variantPathogenicrs137853305GRCh37Chr 9, 35685526: 35685526
5MYH3NM_002470.3(MYH3): c.533C> T (p.Thr178Ile)single nucleotide variantPathogenicrs121913619GRCh37Chr 17, 10553691: 10553691
6MYH3NM_002470.3(MYH3): c.1123G> A (p.Glu375Lys)single nucleotide variantPathogenicrs121913621GRCh37Chr 17, 10549042: 10549042
7MYH3NM_002470.3(MYH3): c.1385A> G (p.Asp462Gly)single nucleotide variantPathogenicrs121913622GRCh37Chr 17, 10547693: 10547693
8MYH3NM_002470.3(MYH3): c.700G> A (p.Ala234Thr)single nucleotide variantPathogenicrs121913623GRCh37Chr 17, 10551909: 10551909
9TNNT3NM_006757.3(TNNT3): c.188G> A (p.Arg63His)single nucleotide variantPathogenicrs121434638GRCh37Chr 11, 1954967: 1954967

Expression for genes affiliated with Distal Arthrogryposis

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2BioGPS, 16Gene 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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51PathCards, 39NCBI BioSystems Database, 56Reactome
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Pathways related to Distal Arthrogryposis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
7.7MYBPC2, MYBPC1, TPM2, TNNT3, TNNI2

Compounds for genes affiliated with Distal Arthrogryposis

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46Novoseek, 52PharmGKB, 25HMDB, 12DrugBank
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Compounds related to Distal Arthrogryposis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium46 52 25 1211.6MYBPC1, TPM2, TNNT3, TNNI2

GO Terms for genes affiliated with Distal Arthrogryposis

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17Gene Ontology
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Cellular components related to Distal Arthrogryposis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1troponin complexGO:0058619.4TNNT3, TNNI2
2myosin filamentGO:0329828.8MYBPC2, MYBPC1
3cytosolGO:0058297.7MYBPC2, MYBPC1, TPM2, TNNT3, TNNI2

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

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle contractionGO:0030099.5TNNT3, TNNI2
2regulation of ATPase activityGO:0434629.2TPM2, TNNT3
3muscle filament slidingGO:0300497.6MYBPC2, MYBPC1, TPM2, TNNT3, TNNI2

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:0083078.7MYBPC2, MYBPC1, TPM2
2actin bindingGO:0037797.4MYBPC2, MYBPC1, TPM2, TNNT3, TNNI2

Products for genes affiliated with Distal Arthrogryposis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Distal Arthrogryposis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet