MCID: ART061
MIFTS: 52

Arthrogryposis, Distal, Type 2a malady

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

Aliases & Classifications for Arthrogryposis, Distal, Type 2a

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Arthrogryposis, Distal, Type 2a:

Name: Arthrogryposis, Distal, Type 2a 51 24 12
Freeman-Sheldon Syndrome 11 24 25 53 69 67
Craniocarpotarsal Dysplasia 47 24 25 53 69
Craniocarpotarsal Dystrophy 47 25 53 69
Distal Arthrogryposis 11 47 26 13
Da2a 47 24 25 69
Whistling Face-Windmill Vane Hand Syndrome 47 25 69
Arthrogryposis Multiplex Congenita 11 47 26
Distal Arthrogryposis Type 2a 47 24 53
Whistling Face Syndrome 24 25 53
Arthrogryposis 47 49 67
Fss 47 25 69
Freeman-Sheldon Syndrome Variant 11 47
Sheldon-Hall Syndrome 11 47
Arthrogryposis Multiplex Congenita Distal Type Ii with Craniofacial Abnormalities 47
Arthrogryposis Multiplex Congenita Distal Type 2b 47
Arthrogryposis Multiplex Congenita Distal 47
Fibrous Ankylosis of Multiple Joints 47
Congenital Multiple Arthrogryposis 47
 
Freeman Sheldon Syndrome, Variant 47
Freeman- Sheldon Syndrome Variant 26
Myodystrophia Fetalis Deformans 47
Arthrogryposis, Distal, Type 2b 67
Distal Arthrogryposis Syndrome 67
Distal Arthrogryposis, Type 2a 25
Distal Arthrogryposis Type Iib 47
Congenital Arthromyodysplasia 47
Arthrogryposis Distal Type 2a 47
Distal Arthrogryposis Type 2b 47
Arthrogryposis, Distal, 2a 69
Freeman Sheldon Syndrome 47
Freeman Sheldon Variant 47
Rocher-Sheldon Syndrome 47
Guérin-Stern Syndrome 47
Guerin-Stern Syndrome 47
Rossi Syndrome 47
Otto Syndrome 47
Da2b 47

Characteristics:

Orphanet epidemiological data:

53
freeman-sheldon syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

63
arthrogryposis, distal, type 2a:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 193700
Disease Ontology11 DOID:0050646
Orphanet53 ORPHA2053
MESH via Orphanet39 C535483
UMLS via Orphanet68 C0265224
ICD10 via Orphanet30 Q87.0
MedGen36 C0265224
MeSH38 D001176
ICD1029 Q74.3

Summaries for Arthrogryposis, Distal, Type 2a

About this section
NIH Rare Diseases:47 Freeman Sheldon syndrome is disorder present from birth (congenital) characterized by joint deformities (contractures) that restrict movement in the hands and feet and abnormalities of the head and face. The characteristic facial feature is a small mouth (microstomia) with pursed lips, giving the appearance of a whistling face. Other facial features may include a prominent forehead and brow ridges, a short nose and area between the nose and mouth, widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and a small tongue (microglossia) and jaw (micrognathia). Individuals with Freeman Sheldon syndrome often have speech problems and may also experience hearing loss. There is additionally an increased risk for individuals with this condition to develop a severe reaction to certain drugs used during surgery, called malignant hyperthermia. Freeman-Sheldon syndrome can be caused by mutations in the MYH3 gene, however not all individuals have a mutation within this gene. Some cases are inherited in an autosomal dominant manner, while others are inherited in an autosomal recessive manner, and still others occur randomly with no apparent cause (sporadically). Although there is no specific treatment or cure, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. Last updated: 10/7/2016

MalaCards based summary: Arthrogryposis, Distal, Type 2a, 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 Arthrogryposis, Distal, Type 2a is MYH3 (Myosin Heavy Chain 3), and among its related pathways are Tight junction and Cytoskeleton remodeling_RalB regulation pathway. Affiliated tissues include eye, tongue and skin, and related mouse phenotype muscle.

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

UniProtKB/Swiss-Prot:69 Arthrogryposis, distal, 2A: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and an H-shaped dimple of the chin.

Genetics Home Reference:25 Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." For this reason, the condition is sometimes called "whistling face syndrome."

OMIM:51 Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and... (193700) more...

Wikipedia:70 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Related Diseases for Arthrogryposis, Distal, Type 2a

About this section

Diseases in the Arthrogryposis, Distal, Type 2a family:

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

Diseases related to Arthrogryposis, Distal, Type 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1arthrogryposis, distal, type 2b32.5MYBPC1, MYH3, TNNI2, TNNT3, TPM2
2arthrogryposis multiplex congenita, neurogenic type12.5
3myh3-related arthrogryposis multiplex congenita, distal, type 2b12.3
4tnni2-related arthrogryposis multiplex congenita, distal, type 2b12.3
5tnnt3-related arthrogryposis multiplex congenita, distal, type 2b12.3
6tpm2-related arthrogryposis multiplex congenita, distal, type 2b12.3
7whistling face syndrome, recessive form12.0
8arthrogryposis multiplex congenita, distal, type 111.8
9distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies11.8
10arthrogryposis, distal, type 511.8
11richieri-costa colletto otto syndrome11.8
12arthrogryposis, distal, type 5d11.8
13arthrogryposis, distal, type 311.7
14arthrogryposis, distal, type 411.6
15trismus-pseudocamptodactyly syndrome11.6
16arthrogryposis, distal, type 611.5
17arthrogryposis-like hand anomaly and sensorineural deafness11.5
18arthrogryposis, distal, type 811.5
19contractural arachnodactyly, congenital11.5
20fetal akinesia deformation sequence11.3
21arthrogryposis, distal, type 1b11.0
22illum syndrome11.0
23arthrogryposis, distal, type 1010.8
24pseudohypoaldosteronism, type iie10.8
25spinal muscular atrophy, x-linked 2, infantile10.8
26ehlers-danlos syndrome, musculocontractural type10.8
27congenital disorder of glycosylation, type iid10.5MYH3, TPM2
28cholesteatoma of attic10.4TNNI2, TNNT3
29multiple system atrophy, parkinsonian type10.2DOK7, RAPSN
30ramos arroyo clark syndrome10.2NALCN, TNNT3
31abnormal pupillary function10.2ECEL1, TNNI2, TNNT3
32oculoauricular syndrome10.1DOK7, RAPSN
33nemaline myopathy 4, autosomal dominant10.1MYH3, TNNI2, TNNT3, TPM2
34breast adenoid cystic carcinoma10.0DOK7, SMN1
35granulomatous dermatitis10.0DOK7, RAPSN
36occupational dermatitis10.0DOK7, RAPSN, SMN1
37myopathy9.9
38ledderhose disease9.9ADGRG6, MYBPC1, ZBTB42
39hereditary night blindness9.9RAPSN, ZBTB42
40snowflake vitreoretinal degeneration9.9DOK7, TPM2
41marden-walker syndrome9.9
42hydronephrosis9.9
43glans penis cancer9.8ECEL1, MYBPC1, MYH3, TNNT3, TPM2
44prader-willi syndrome9.7
45velocardiofacial syndrome9.7
46dilated cardiomyopathy9.7
47ectodermal dysplasia9.7
48loeys-dietz syndrome9.7
49scoliosis9.7
50ptosis9.7

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 2a:



Diseases related to arthrogryposis, distal, type 2a

Symptoms for Arthrogryposis, Distal, Type 2a

About this section

Symptoms by clinical synopsis from OMIM:

193700

Clinical features from OMIM:

193700

Human phenotypes related to Arthrogryposis, Distal, Type 2a:

 63 53 (show all 82)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set, posteriorly rotated ears63 hallmark (90%) HP:0000368
2 depressed nasal ridge63 53 hallmark (90%) Very frequent (99-80%) HP:0000457
3 congenital diaphragmatic hernia63 hallmark (90%) HP:0000776
4 lymphedema63 hallmark (90%) HP:0001004
5 polyhydramnios63 53 hallmark (90%) Occasional (29-5%) HP:0001561
6 talipes63 hallmark (90%) HP:0001883
7 abnormality of the pleura63 hallmark (90%) HP:0002103
8 scoliosis63 53 hallmark (90%) Very frequent (99-80%) HP:0002650
9 abnormality of the wrist63 hallmark (90%) HP:0003019
10 abnormality of the hip bone63 hallmark (90%) HP:0003272
11 abnormality of the gastric mucosa63 hallmark (90%) HP:0004295
12 aplasia/hypoplasia of the lungs63 hallmark (90%) HP:0006703
13 ulnar deviation of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0009465
14 narrow mouth63 53 hallmark (90%) Very frequent (99-80%) HP:0000160
15 abnormality of the teeth63 53 hallmark (90%) Very frequent (99-80%) HP:0000164
16 trismus63 hallmark (90%) HP:0000211
17 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
18 underdeveloped nasal alae63 53 hallmark (90%) Very frequent (99-80%) HP:0000430
19 wide nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0000431
20 downslanted palpebral fissures63 53 hallmark (90%) Very frequent (99-80%) HP:0000494
21 limitation of joint mobility63 hallmark (90%) HP:0001376
22 chin dimple63 53 hallmark (90%) Very frequent (99-80%) HP:0010751
23 camptodactyly of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0100490
24 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
25 long philtrum63 53 typical (50%) Frequent (79-30%) HP:0000343
26 hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000365
27 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
28 deeply set eye63 53 typical (50%) Frequent (79-30%) HP:0000490
29 ptosis63 53 typical (50%) Frequent (79-30%) HP:0000508
30 prenatal movement abnormality63 53 typical (50%) Frequent (79-30%) HP:0001557
31 malignant hyperthermia63 53 typical (50%) Frequent (79-30%) HP:0002047
32 neurological speech impairment63 53 typical (50%) Frequent (79-30%) HP:0002167
33 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
34 abnormality of the nares63 typical (50%) HP:0005288
35 intellectual disability63 31% HP:0001249
36 oligohydramnios63 53 occasional (7.5%) Occasional (29-5%) HP:0001562
37 absent palmar crease63 53 occasional (7.5%) Occasional (29-5%) HP:0010489
38 hernia63 53 occasional (7.5%) Occasional (29-5%) HP:0100790
39 inguinal hernia63 HP:0000023
40 high palate63 HP:0000218
41 microcephaly63 HP:0000252
42 malar flattening63 HP:0000272
43 epicanthus63 HP:0000286
44 mask-like facies63 HP:0000298
45 mandibular prognathia63 HP:0000303
46 whistling appearance63 HP:0000346
47 short neck63 HP:0000470
48 telecanthus63 HP:0000506
49 blepharophimosis63 HP:0000581
50 abnormality of the skin63 HP:0000951
51 adducted thumb63 HP:0001181
52 ulnar deviation of the hand or of fingers of the hand63 HP:0001193
53 seizures63 HP:0001250
54 cerebellar atrophy63 HP:0001272
55 muscle weakness63 HP:0001324
56 failure to thrive63 53 Very frequent (99-80%) HP:0001508
57 small for gestational age63 HP:0001518
58 nasal speech63 53 Frequent (79-30%) HP:0001611
59 breech presentation63 HP:0001623
60 talipes equinovarus63 53 Very frequent (99-80%) HP:0001762
61 rocker bottom foot63 HP:0001838
62 fever63 HP:0001945
63 hypoplasia of the brainstem63 HP:0002365
64 kyphoscoliosis63 HP:0002751
65 arthrogryposis multiplex congenita63 HP:0002804
66 hip dislocation63 HP:0002827
67 shoulder flexion contracture63 HP:0003044
68 short nose63 HP:0003196
69 hip contracture63 HP:0003273
70 spina bifida occulta63 HP:0003298
71 flexion contracture of toe63 HP:0005830
72 knee flexion contracture63 HP:0006380
73 abnormal auditory evoked potentials63 HP:0006958
74 postnatal growth retardation63 HP:0008897
75 joint contracture of the hand63 HP:0009473
76 prominent forehead63 HP:0011220
77 chin with h-shaped crease63 HP:0011824
78 flat face63 HP:0012368
79 camptodactyly63 HP:0012385
80 joint stiffness53 Very frequent (99-80%)
81 growth delay53 Very frequent (99-80%)
82 feeding difficulties in infancy53 Very frequent (99-80%)

UMLS symptoms related to Arthrogryposis, Distal, Type 2a:


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

Drugs & Therapeutics for Arthrogryposis, Distal, Type 2a

About this section

Drugs for Arthrogryposis, Distal, Type 2a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Mentholapproved23532216-51-516666
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
2
Adenosineapproved, investigational39758-61-760961
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
3Peripheral Nervous System Agents22776
4Vasodilator Agents3438
5Anti-Arrhythmia Agents2969
6Analgesics11287
7Neurotransmitter Agents17734

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 SyndromeUnknown statusNCT01144741
3Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related ConditionsUnknown statusNCT01306994
4WREX Outcome StudyUnknown statusNCT02218593
5Study of Quality of Life in Freeman-Sheldon Syndrome and Related ConditionsUnknown statusNCT01307475
6Movement Enhancing Device for ChildrenCompletedNCT01959581

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Genetic Tests for Arthrogryposis, Distal, Type 2a

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Genetic tests related to Arthrogryposis, Distal, Type 2a:

id Genetic test Affiliating Genes
1 Freeman-Sheldon Syndrome26 24 MYH3
2 Distal Arthrogryposis26
3 Arthrogryposis Multiplex Congenita26
4 Arthrogryposis, Distal, Type 2a24 MYH3

Anatomical Context for Arthrogryposis, Distal, Type 2a

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MalaCards organs/tissues related to Arthrogryposis, Distal, Type 2a:

35
Eye, Tongue, Skin, Lung, Bone

Animal Models for Arthrogryposis, Distal, Type 2a or affiliated genes

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MGI Mouse Phenotypes related to Arthrogryposis, Distal, Type 2a:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4ADGRG6, DOK7, ECEL1, FBN2, RAPSN, TNNT3

Publications for Arthrogryposis, Distal, Type 2a

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Variations for Arthrogryposis, Distal, Type 2a

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UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 2a:

69
id Symbol AA change Variation ID SNP ID
1MYH3p.Thr178IleVAR_030370rs121913619
2MYH3p.Glu498GlyVAR_030374
3MYH3p.Tyr583SerVAR_030376
4MYH3p.Arg672CysVAR_030377rs121913618
5MYH3p.Arg672HisVAR_030378rs121913617
6MYH3p.Val825AspVAR_030380rs121913620

Clinvar genetic disease variations for Arthrogryposis, Distal, Type 2a:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1TNNI2NM_003282.3(TNNI2): c.521G> A (p.Arg174Gln)SNVPathogenicrs104894311GRCh37Chr 11, 1862753: 1862753
2TNNI2NM_003282.3(TNNI2): c.466C> T (p.Arg156Ter)SNVPathogenicrs104894312GRCh37Chr 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)SNVPathogenicrs137853305GRCh37Chr 9, 35685526: 35685526
5MYH3NM_002470.3(MYH3): c.2015G> A (p.Arg672His)SNVPathogenicrs121913617GRCh37Chr 17, 10544634: 10544634
6MYH3NM_002470.3(MYH3): c.2014C> T (p.Arg672Cys)SNVPathogenicrs121913618GRCh37Chr 17, 10544635: 10544635
7MYH3NM_002470.3(MYH3): c.533C> T (p.Thr178Ile)SNVPathogenicrs121913619GRCh37Chr 17, 10553691: 10553691
8MYH3NM_002470.3(MYH3): c.2474T> A (p.Val825Asp)SNVPathogenicrs121913620GRCh37Chr 17, 10543521: 10543521
9MYH3NM_002470.3(MYH3): c.2590_2592delCTC (p.Leu864del)deletionPathogenicrs879255230GRCh37Chr 17, 10543403: 10543405
10MYH3NM_002470.3(MYH3): c.1123G> A (p.Glu375Lys)SNVPathogenicrs121913621GRCh37Chr 17, 10549042: 10549042
11MYH3NM_002470.3(MYH3): c.1385A> G (p.Asp462Gly)SNVPathogenicrs121913622GRCh37Chr 17, 10547693: 10547693
12MYH3NM_002470.3(MYH3): c.700G> A (p.Ala234Thr)SNVPathogenicrs121913623GRCh37Chr 17, 10551909: 10551909
13ADGRG6NM_198569.2(ADGRG6): c.19C> T (p.Arg7Ter)SNVPathogenicrs749355583GRCh37Chr 6, 142630697: 142630697
14ADGRG6NM_020455.5(ADGRG6): c.2144dupG (p.Gln716Thrfs)duplicationPathogenicrs793888524GRCh37Chr 6, 142726841: 142726841
15MYH3NM_002470.3(MYH3): c.1504T> G (p.Tyr502Asp)SNVLikely pathogenicrs797045727GRCh38Chr 17, 10642903: 10642903
16ADGRG6NM_198569.2(ADGRG6): c.2306T> A (p.Val769Glu)SNV, HaplotypePathogenicrs793888525GRCh37Chr 6, 142729324: 142729324
17MYH3NM_002470.3(MYH3): c.850T> G (p.Tyr284Asp)SNVLikely pathogenicrs886042111GRCh37Chr 17, 10550547: 10550547
18TNNT3NM_006757.3(TNNT3): c.188G> A (p.Arg63His)SNVPathogenicrs121434638GRCh37Chr 11, 1954967: 1954967

Expression for genes affiliated with Arthrogryposis, Distal, Type 2a

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Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 2a.

Pathways for genes affiliated with Arthrogryposis, Distal, Type 2a

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GO Terms for genes affiliated with Arthrogryposis, Distal, Type 2a

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Cellular components related to Arthrogryposis, Distal, Type 2a according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1troponin complexGO:000586110.3TNNI2, TNNT3
2muscle myosin complexGO:00058599.7MYH2, MYH3, MYH8
3myofibrilGO:00300169.7MYBPC1, MYH2
4myosin complexGO:00164599.7MYH3, MYH8
5myosin filamentGO:00329829.6MYBPC1, MYH2, MYH3, MYH8
6sarcomereGO:00300179.4MYH2, MYH3, MYH8

Biological processes related to Arthrogryposis, Distal, Type 2a according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of ATPase activityGO:004346210.4TNNT3, TPM2
2ATP metabolic processGO:004603410.0MYH3, MYH8
3skeletal muscle contractionGO:00030099.7MYH3, MYH8, TNNI2, TNNT3
4muscle contractionGO:00069369.1MYBPC1, MYH2, MYH8, TPM2
5muscle filament slidingGO:00300498.1MYBPC1, MYH2, MYH3, MYH8, TNNI2, TNNT3

Molecular functions related to Arthrogryposis, Distal, Type 2a according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myosin phosphatase activityGO:001701810.6MYH3, MYH8
2microfilament motor activityGO:000014610.1MYH2, MYH3, MYH8
3calmodulin bindingGO:00055169.7MYH2, MYH3, MYH8
4structural constituent of muscleGO:00083079.4MYBPC1, MYH8, TPM2
5actin bindingGO:00037798.9MYBPC1, MYH2, TNNI2, TNNT3, TPM2

Sources for Arthrogryposis, Distal, Type 2a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet