MCID: DST002
MIFTS: 54

Distal Arthrogryposis malady

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

Aliases & Classifications for Distal Arthrogryposis

About this section
Sources:
66UMLS, 11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 25GTR, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 48Novoseek, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 28ICD10
See all MalaCards sources

Aliases & Descriptions for Distal Arthrogryposis:

Name: Distal Arthrogryposis 11 46 13 25
Freeman-Sheldon Syndrome 11 23 24 52 66
Craniocarpotarsal Dysplasia 46 23 24 52
Arthrogryposis Multiplex Congenita 11 46 25
Distal Arthrogryposis Type 2a 46 23 52
Craniocarpotarsal Dystrophy 46 24 52
Whistling Face Syndrome 23 24 52
Arthrogryposis 46 48 66
Da2a 46 23 24
Whistling Face-Windmill Vane Hand Syndrome 46 24
Freeman-Sheldon Syndrome Variant 11 46
Sheldon-Hall Syndrome 11 46
Fss 46 24
Arthrogryposis Multiplex Congenita Distal Type Ii with Craniofacial Abnormalities 46
Arthrogryposis Multiplex Congenita Distal Type 2b 46
Arthrogryposis Multiplex Congenita Distal 46
Fibrous Ankylosis of Multiple Joints 46
Congenital Multiple Arthrogryposis 46
 
Freeman Sheldon Syndrome, Variant 46
Arthrogryposis, Distal, Type 2b 66
Myodystrophia Fetalis Deformans 46
Distal Arthrogryposis Syndrome 66
Distal Arthrogryposis Type Iib 46
Distal Arthrogryposis, Type 2a 24
Arthrogryposis Distal Type 2a 46
Distal Arthrogryposis Type 2b 46
Congenital Arthromyodysplasia 46
Freeman Sheldon Syndrome 46
Rocher-Sheldon Syndrome 46
Freeman Sheldon Variant 46
Guérin-Stern Syndrome 46
Guerin-Stern Syndrome 46
Rossi Syndrome 46
Otto Syndrome 46
Da2b 46

Characteristics:

Orphanet epidemiological data:

52
freeman-sheldon syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:0050646
Orphanet52 ORPHA2053
ICD10 via Orphanet29 Q87.0
MESH via Orphanet38 C535483
UMLS via Orphanet67 C0265224
ICD1028 Q74.3

Summaries for Distal Arthrogryposis

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NIH Rare Diseases:46 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 freeman-sheldon syndrome, is related to arthrogryposis, distal, type 2b and arthrogryposis multiplex congenita, neurogenic type, and has symptoms including low-set, posteriorly rotated ears, depressed nasal ridge and congenital diaphragmatic hernia. An important gene associated with Distal Arthrogryposis is MYH3 (Myosin Heavy Chain 3), and among its related pathways are Cytoskeleton remodeling_RalB regulation pathway and Immune response CCR3 signaling in eosinophils. Affiliated tissues include lung, eye and bone.

Disease Ontology:11 A muscle tissue disease characterized by congenital joint contractures of hand and feet.

Related Diseases for Distal Arthrogryposis

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Diseases in the Distal Arthrogryposis family:

Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b Arthrogryposis, Distal, Type 1b
Arthrogryposis, Distal, Type 2a Arthrogryposis, Distal, Type 8
Arthrogryposis, Distal, Type 5 Arthrogryposis, Distal, Type 3
Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 4

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

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1arthrogryposis, distal, type 2b31.2MYBPC1, MYH3, TNNI2, TNNT3, TPM2
2arthrogryposis multiplex congenita, neurogenic type12.6
3myh3-related arthrogryposis multiplex congenita, distal, type 2b12.4
4tnni2-related arthrogryposis multiplex congenita, distal, type 2b12.4
5tnnt3-related arthrogryposis multiplex congenita, distal, type 2b12.4
6tpm2-related arthrogryposis multiplex congenita, distal, type 2b12.4
7whistling face syndrome, recessive form12.1
8richieri-costa colletto otto syndrome11.9
9distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies11.9
10arthrogryposis, distal, type 511.7
11arthrogryposis multiplex congenita, distal, type 111.7
12arthrogryposis, distal, type 5d11.5
13trismus-pseudocamptodactyly syndrome11.5
14arthrogryposis, distal, type 311.4
15arthrogryposis, distal, type 411.4
16contractural arachnodactyly, congenital11.4
17arthrogryposis, distal, type 611.3
18pseudohypoaldosteronism, type iie11.3
19arthrogryposis, distal, type 811.3
20arthrogryposis, distal, type 1010.9
21spinal muscular atrophy, x-linked 2, infantile10.9
22ehlers-danlos syndrome, musculocontractural type10.9
23arthrogryposis-like hand anomaly and sensorineural deafness10.9
24fetal akinesia deformation sequence10.6
25congenital disorder of glycosylation, type iid10.1MYH3, TPM2
26arthrogryposis, distal, type 1b10.1
27arthrogryposis, distal, type 2a10.1
28illum syndrome10.1
29myopathy10.1
30cholesteatoma of attic10.0TNNI2, TNNT3
31marden-walker syndrome10.0
32hydronephrosis10.0
33microcephaly and chorioretinopathy 110.0TNNI2, TPM2
34abnormal pupillary function9.8ECEL1, TNNI2, TNNT3
35prader-willi syndrome9.8
36velocardiofacial syndrome9.8
37dilated cardiomyopathy9.8
38ectodermal dysplasia9.8
39loeys-dietz syndrome9.8
40ptosis9.8
41juvenile glaucoma9.8
42clubfoot9.8
43neuronitis9.8
44hypopituitarism9.8
45brown syndrome9.8
46congenital contractures9.8
47cardiomyopathy9.8
48intellectual disability9.8
49hypotonia9.8
50autoimmune disease of skin and connective tissue9.8MYBPC2, MYH6

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



Diseases related to distal arthrogryposis

Symptoms for Distal Arthrogryposis

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Symptoms:

 52 (show all 31)
  • cryptorchidism
  • narrow mouth
  • abnormality of the teeth
  • hypertelorism
  • long philtrum
  • hearing impairment
  • underdeveloped nasal alae
  • wide nasal bridge
  • depressed nasal ridge
  • strabismus
  • deeply set eye
  • downslanted palpebral fissures
  • ptosis
  • joint stiffness
  • failure to thrive
  • growth delay
  • prenatal movement abnormality
  • polyhydramnios
  • oligohydramnios
  • nasal speech
  • talipes equinovarus
  • malignant hyperthermia
  • neurological speech impairment
  • scoliosis
  • short stature
  • feeding difficulties in infancy
  • ulnar deviation of finger
  • absent palmar crease
  • chin dimple
  • camptodactyly of finger
  • hernia

HPO human phenotypes related to Distal Arthrogryposis:

(show all 13)
id Description Frequency HPO Source Accession
1 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
2 depressed nasal ridge hallmark (90%) HP:0000457
3 congenital diaphragmatic hernia hallmark (90%) HP:0000776
4 lymphedema hallmark (90%) HP:0001004
5 polyhydramnios hallmark (90%) HP:0001561
6 talipes hallmark (90%) HP:0001883
7 abnormality of the pleura hallmark (90%) HP:0002103
8 scoliosis hallmark (90%) HP:0002650
9 abnormality of the wrist hallmark (90%) HP:0003019
10 abnormality of the hip bone hallmark (90%) HP:0003272
11 abnormality of the gastric mucosa hallmark (90%) HP:0004295
12 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
13 ulnar deviation of finger hallmark (90%) HP:0009465

UMLS symptoms related to Distal Arthrogryposis:


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

Drugs & Therapeutics for Distal Arthrogryposis

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Drugs for Distal Arthrogryposis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Adenosine38858-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5
2
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Power Mobility on Young Children With Severe Motor ImpairmentsCompletedNCT01028833Phase 2
2Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon SyndromeRecruitingNCT01144741
3Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related ConditionsRecruitingNCT01306994
4Study of Quality of Life in Freeman-Sheldon Syndrome and Related ConditionsRecruitingNCT01307475
5Movement Enhancing Device for ChildrenRecruitingNCT01959581
6WREX Outcome StudyEnrolling by invitationNCT02218593

Search NIH Clinical Center for Distal Arthrogryposis

Genetic Tests for Distal Arthrogryposis

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Genetic tests related to Distal Arthrogryposis:

id Genetic test Affiliating Genes
1 Distal Arthrogryposis25
2 Arthrogryposis Multiplex Congenita25

Anatomical Context for Distal Arthrogryposis

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MalaCards organs/tissues related to Distal Arthrogryposis:

34
Lung, Eye, Bone, Testis, Skeletal muscle

Animal Models for Distal Arthrogryposis or affiliated genes

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Publications for Distal Arthrogryposis

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Articles related to Distal Arthrogryposis:

(show top 50)    (show all 87)
idTitleAuthorsYear
1
ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis. (26951213)
2016
2
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
3
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. (26374086)
2015
4
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
5
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. (25712306)
2015
6
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (24726473)
2014
7
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis. (25337069)
2014
8
Mutations in ECEL1 cause distal arthrogryposis type 5D. (23261301)
2013
9
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. (23487782)
2013
10
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. (23657818)
2013
11
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. (23401156)
2013
12
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
13
Distal arthrogryposis: clinical and genetic findings. (22519952)
2012
14
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. (21531865)
2011
15
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
16
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. (20045868)
2010
17
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. (18695058)
2008
18
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. (17339586)
2007
19
Bilateral discoid medial menisci accompanied by distal arthrogryposis: a case report. (16983564)
2007
20
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. (17380469)
2007
21
Pulmonary disease is a component of distal arthrogryposis type 5. (17345626)
2007
22
Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound. (17385787)
2007
23
Mitochondrial mutation in a child with distal arthrogryposis. (16353243)
2006
24
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. (17103435)
2006
25
A TNNI2 mutation in a family with distal arthrogryposis type 2B. (16497570)
2006
26
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. (16924011)
2006
27
A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. (16802141)
2006
28
Re: distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.]. (16001435)
2005
29
Distal arthrogryposis type 2A may be associated with juvenile glaucoma. (16278894)
2005
30
Distal arthrogryposis in two sisters born to different fathers. (14755476)
2004
31
Velocardiofacial syndrome presenting as distal arthrogryposis. (15346917)
2004
32
Distal arthrogryposis type IIB: unreported ophthalmic findings. (15103714)
2004
33
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. (12592607)
2003
34
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. (11152147)
2001
35
Progressive neurological deterioration in a child with distal arthrogryposis and whistling face. (10777369)
2000
36
Prenatal diagnosis of distal arthrogryposis type 1. (10384996)
1999
37
A family with autosomal dominant distal arthrogryposis multiplex congenita and brown syndrome. (10617921)
1999
38
Distal arthrogryposis type IIB: probable autosomal recessive inheritance. (10466425)
1999
39
Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25--&gt;qter deletion. (9788726)
1998
40
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene. (9727748)
1998
41
Proteus syndrome and distal arthrogryposis. (9457508)
1997
42
Extending the spectrum of distal arthrogryposis. (8923937)
1996
43
Distal arthrogryposis type 1: clinical analysis of a large kindred. (8923936)
1996
44
Familial distal arthrogryposis type I. (8766137)
1996
45
Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case. (8533802)
1995
46
Distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: another case. (1488995)
1992
47
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. (2063898)
1991
48
Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs. (2240046)
1990
49
Prenatal diagnosis of distal arthrogryposis. (3287922)
1988
50
Distal arthrogryposis type II D in three generations of a Brazilian family. (3565478)
1987

Variations for Distal Arthrogryposis

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Clinvar genetic disease variations for Distal Arthrogryposis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ADGRG6NM_198569.2(ADGRG6): c.19C> T (p.Arg7Ter)single nucleotide variantPathogenicrs749355583GRCh37Chr 6, 142630697: 142630697
2ADGRG6NM_020455.5(ADGRG6): c.2144dupG (p.Gln716Thrfs)duplicationPathogenicrs793888524GRCh37Chr 6, 142726841: 142726841
3ADGRG6NM_198569.2(ADGRG6): c.2306T> A (p.Val769Glu)single nucleotide variantPathogenicrs793888525GRCh37Chr 6, 142729324: 142729324
4ADGRG6NM_198569.2(ADGRG6): c.2306T> A (p.Val769Glu)single nucleotide variantPathogenicrs793888525GRCh37Chr 6, 142729324: 142729324

Expression for genes affiliated with Distal Arthrogryposis

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Search GEO for disease gene expression data for Distal Arthrogryposis.

Pathways for genes affiliated with Distal Arthrogryposis

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GO Terms for genes affiliated with Distal Arthrogryposis

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

idNameGO IDScoreTop Affiliating Genes
1troponin complexGO:000586110.5TNNI2, TNNT3
2myofibrilGO:003001610.0MYBPC1, MYH6
3muscle myosin complexGO:00058599.8MYH3, MYH6, MYH8
4sarcomereGO:00300179.8MYH3, MYH6, MYH8
5myosin complexGO:00164599.8MYH3, MYH6, MYH8
6myosin filamentGO:00329828.7MYBPC1, MYBPC2, MYH3, MYH6, MYH8
7cytosolGO:00058297.0MYBPC1, MYBPC2, MYH3, MYH6, MYH8, TNNI2

Biological processes related to Distal Arthrogryposis according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1actin filament-based movementGO:003004810.2MYH3, MYH6
2sarcomere organizationGO:004521410.1MYH3, MYH6
3regulation of ATPase activityGO:00434629.8MYH6, TNNT3, TPM2
4cardiac muscle contractionGO:00600489.7MYH6, TNNI2
5ATP metabolic processGO:00460349.4MYH3, MYH6, MYH8
6skeletal muscle contractionGO:00030099.4MYH3, MYH8, TNNI2, TNNT3
7embryonic limb morphogenesisGO:00303269.3FBN2, MYH3
8protein dephosphorylationGO:00064709.3MYH3, MYH6, MYH8
9muscle contractionGO:00069367.9MYBPC1, MYBPC2, MYH6, MYH8, TPM2
10muscle filament slidingGO:00300497.1MYBPC1, MYBPC2, MYH3, MYH6, MYH8, TNNI2

Molecular functions related to Distal Arthrogryposis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myosin phosphatase activityGO:00170189.8MYH3, MYH6, MYH8
2microfilament motor activityGO:00001469.8MYH3, MYH6, MYH8
3calmodulin bindingGO:00055169.4MYH3, MYH6, MYH8
4structural constituent of muscleGO:00083078.3MYBPC1, MYBPC2, MYH8, TPM2
5actin bindingGO:00037797.8MYBPC1, MYBPC2, MYH6, TNNI2, TNNT3, TPM2

Sources for Distal Arthrogryposis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet