DA2A
MCID: ART061
MIFTS: 45

Arthrogryposis, Distal, Type 2a (DA2A)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 2a

MalaCards integrated aliases for Arthrogryposis, Distal, Type 2a:

Name: Arthrogryposis, Distal, Type 2a 58 13 41
Freeman-Sheldon Syndrome 58 77 26 60 76 30 6 74
Craniocarpotarsal Dystrophy 58 54 26 60 76
Craniocarpotarsal Dysplasia 58 54 26 60 76
Whistling Face-Windmill Vane Hand Syndrome 58 54 26 76
Da2a 58 54 26 76
Fss 58 54 26 76
Distal Arthrogryposis Type 2a 54 60
Whistling Face Syndrome 26 60
Distal Arthrogryposis, Type 2a 26
Freeman-Sheldon Syndrome; Fss 58
Arthrogryposis Distal Type 2a 54
Arthrogryposis, Distal, 2a 76
Freeman Sheldon Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
freeman-sheldon syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Miscellaneous:
breech presentation
see also da2b , which is an allelic disorder
autosomal recessive form has also been described

Inheritance:
autosomal dominant


HPO:

33
arthrogryposis, distal, type 2a:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 2a

NIH Rare Diseases : 54 Freeman Sheldon syndrome is a 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. People with this syndrome have 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).  People with Freeman Sheldon syndrome often have speech, eating, and respiratory problems and may also experience hearing loss, and growth and development delay. Other symptoms include club foot, joint contracture, hand and feet defects, and scoliosis. There is an increased risk for individuals with this disorder to develop a severe reaction to certain drugs used during surgery (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, it is possible to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

MalaCards based summary : Arthrogryposis, Distal, Type 2a, also known as freeman-sheldon syndrome, is related to arthrogryposis, distal, type 5 and distal arthrogryposis, and has symptoms including seizures An important gene associated with Arthrogryposis, Distal, Type 2a is MYH3 (Myosin Heavy Chain 3). The drugs Adenosine and Vasodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and skin, and related phenotypes are hypertelorism and failure to thrive

Genetics Home Reference : 26 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 : 58 Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120). (193700)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Freeman–Sheldon syndrome (FSS), also termed distal arthrogryposis type 2A (DA2A), craniocarpotarsal... more...

Related Diseases for Arthrogryposis, Distal, Type 2a

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



Diseases related to Arthrogryposis, Distal, Type 2a

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 2a

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

60 33 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
3 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
4 abnormality of the dentition 60 33 hallmark (90%) Very frequent (99-80%) HP:0000164
5 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
6 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
7 feeding difficulties in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008872
8 talipes equinovarus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001762
9 underdeveloped nasal alae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000430
10 depressed nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000457
11 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
12 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
13 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
14 ulnar deviation of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009465
15 dimple chin 33 hallmark (90%) HP:0010751
16 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
17 neurological speech impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002167
18 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
19 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
20 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
21 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
22 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
23 malignant hyperthermia 60 33 frequent (33%) Frequent (79-30%) HP:0002047
24 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
25 nasal speech 60 33 frequent (33%) Frequent (79-30%) HP:0001611
26 prenatal movement abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0001557
27 hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100790
28 polyhydramnios 60 33 occasional (7.5%) Occasional (29-5%) HP:0001561
29 oligohydramnios 60 33 occasional (7.5%) Occasional (29-5%) HP:0001562
30 absent palmar crease 60 33 occasional (7.5%) Occasional (29-5%) HP:0010489
31 intellectual disability 33 very rare (1%) HP:0001249
32 malar flattening 33 HP:0000272
33 short neck 33 HP:0000470
34 high palate 33 HP:0000218
35 seizures 33 HP:0001250
36 muscle weakness 33 HP:0001324
37 inguinal hernia 33 HP:0000023
38 mandibular prognathia 33 HP:0000303
39 short nose 33 HP:0003196
40 microcephaly 33 HP:0000252
41 fever 33 HP:0001945
42 prominent forehead 33 HP:0011220
43 epicanthus 33 HP:0000286
44 flat face 33 HP:0012368
45 growth delay 60 Very frequent (99-80%)
46 postnatal growth retardation 33 HP:0008897
47 mask-like facies 33 HP:0000298
48 arthrogryposis multiplex congenita 33 HP:0002804
49 kyphoscoliosis 33 HP:0002751
50 telecanthus 33 HP:0000506

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Neurologic Central Nervous System:
seizures
mental retardation (31%)

Head And Neck Head:
microcephaly

Metabolic Features:
malignant hyperthermia
hyperpyrexia, usually associated with anesthesia

Skeletal Pelvis:
hip dislocation
hip contractures

Head And Neck Mouth:
pursed lips
small mouth

Head And Neck Nose:
broad nasal bridge
small nose
hypoplastic alae nasi

Growth Weight:
low birth weight

Muscle Soft Tissue:
mild muscle weakness
skeletal muscle biopsy shows fiber size variability
type 1 fiber type predominance
small type 1 fibers
increased interstitial connective tissue

Skin Nails Hair Skin:
thickened skin over flexor surface of proximal phalanges

Head And Neck Eyes:
ptosis
strabismus
telecanthus
blepharophimosis
epicanthal folds
more
Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Face:
long philtrum
flat face
mask-like facies
full forehead
h-shaped chin dimple
more
Skeletal Spine:
kyphoscoliosis
spina bifida occulta

Voice:
nasal speech

Skeletal Hands:
camptodactyly
ulnar deviation
cortical thumbs

Skeletal Feet:
vertical talus
equinovarus
contracted toes

Skeletal Limbs:
knee contractures
shoulder contractures

Growth Other:
postnatal growth deficiency
failure to thrive (infancy)

Clinical features from OMIM:

193700

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


seizures

Drugs & Therapeutics for Arthrogryposis, Distal, Type 2a

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2 Vasodilator Agents
3 Peripheral Nervous System Agents
4 Anti-Arrhythmia Agents
5 Neurotransmitter Agents
6 Analgesics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
2 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Not yet recruiting NCT01306994
3 Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions Terminated NCT01307475

Search NIH Clinical Center for Arthrogryposis, Distal, Type 2a

Genetic Tests for Arthrogryposis, Distal, Type 2a

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

# Genetic test Affiliating Genes
1 Freeman-Sheldon Syndrome 30 MYH3

Anatomical Context for Arthrogryposis, Distal, Type 2a

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

42
Eye, Tongue, Skin, Skeletal Muscle, Brain, Heart

Publications for Arthrogryposis, Distal, Type 2a

Articles related to Arthrogryposis, Distal, Type 2a:

(show top 50) (show all 95)
# Title Authors Year
1
Reductions in ATPase activity, actin sliding velocity, and myofibril stability yield muscle dysfunction in Drosophila models of myosin-based Freeman-Sheldon syndrome. ( 30379605 )
2019
2
Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila. ( 30826400 )
2019
3
Head First, Not Feet First: Freeman-Sheldon Syndrome as Primarily a Craniofacial Condition. ( 29370530 )
2018
4
Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery. ( 29666709 )
2018
5
Anesthetic management of a patient with Freeman-Sheldon syndrome in thoracic surgery. ( 29751210 )
2018
6
Revisiting the Many Names of Freeman-Sheldon Syndrome. ( 30400128 )
2018
7
The Obv-Eas Method: An Easy Way to Facilitate Fiberoptic Intubation in Pediatric Patients: Case of an Infant with Freeman-Sheldon Syndrome. ( 30533393 )
2018
8
Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa. ( 28584669 )
2017
9
Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation. ( 26996280 )
2016
10
The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects. ( 26945064 )
2016
11
Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman-Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction. ( 27380584 )
2016
12
Anesthetic considerations in a parturient with Freeman-Sheldon syndrome. ( 27016877 )
2016
13
A Case of Freeman-Sheldon Syndrome: Anesthetic Challenges. ( 27111982 )
2016
14
The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle. ( 25740846 )
2015
15
Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years. ( 26174733 )
2015
16
Bilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome in a 21-year-old woman presenting with uncorrectable equinovarus. ( 26178231 )
2015
17
Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features. ( 26494722 )
2015
18
Freeman-Sheldon syndrome: a case report. ( 26637256 )
2015
19
Freeman-Sheldon syndrome and respiratory obstruction: a novel use of distraction osteogenesis. ( 24777016 )
2014
20
Genotype-phenotype relationships in Freeman-Sheldon syndrome. ( 25256237 )
2014
21
Improving oral function and cosmesis in a case of Freeman-Sheldon syndrome. ( 24225909 )
2013
22
Freeman-sheldon syndrome. ( 23277889 )
2013
23
Freeman Sheldon syndrome with marked kyphoscoliosis at birth: a case report. ( 23416834 )
2013
24
Freeman-Sheldon syndrome: a dental perspective. ( 24021330 )
2013
25
A further heterogeneous locus contained in 8q21 for Freeman-Sheldon syndrome may be suggested by Kristin Hofmann. ( 23486078 )
2013
26
Freeman-Sheldon syndrome: combined surgical and non-surgical approach. ( 23218872 )
2013
27
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures. ( 23850728 )
2013
28
Anaesthesia challenges in Freeman-Sheldon syndrome. ( 24403637 )
2013
29
Freeman-Sheldon Syndrome Presenting with Microstomia: A Case Report and Literature Review. ( 24431877 )
2013
30
Anesthetic management of a patient with Freeman-Sheldon syndrome: case report and literature review. ( 22340578 )
2012
31
Severe skew foot deformity in a patient with freeman-sheldon syndrome. ( 22383916 )
2011
32
p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome. ( 20924721 )
2011
33
Freeman-Sheldon syndrome: case report and review of the literature. ( 21986849 )
2011
34
Freeman-Sheldon syndrome with cerebral venous thrombosis: is it a coincidence? ( 20393251 )
2010
35
Surgical and prosthodontic rehabilitation in a patient with Freeman-Sheldon syndrome. ( 20856050 )
2010
36
Freeman-Sheldon syndrome--prenatal and postnatal diagnosis. ( 20012803 )
2010
37
Frontal bandeau reconstruction with a fibula flap in a patient with Freeman-Sheldon syndrome. ( 19165042 )
2009
38
Freeman-Sheldon syndrome: a functional and cosmetic correction of microstomia. ( 19008166 )
2009
39
Freeman-Sheldon syndrome. A case report and review of the literature. ( 18677448 )
2008
40
Anaesthetic management of a child with Freeman-sheldon syndrome undergoing spinal surgery. ( 18361019 )
2008
41
Anesthetic management of a patient with Freeman-Sheldon syndrome: case report. ( 17967677 )
2007
42
Clinical characteristics and natural history of Freeman-Sheldon syndrome. ( 16510655 )
2006
43
Freeman-Sheldon syndrome: a case report. ( 17014544 )
2006
44
Prenatal diagnosis of Freeman-Sheldon syndrome and usefulness of an ultrasound fetal lip width normogram. ( 16715537 )
2006
45
Neuroleptic malignant syndrome induced by metoclopramide in an infant with Freeman-Sheldon syndrome. ( 16931708 )
2006
46
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman- Sheldon syndrome and Sheldon-Hall syndrome. ( 16642020 )
2006
47
Combined spinal-epidural anesthesia for a child with Freeman-Sheldon syndrome with difficult airway. ( 17122295 )
2006
48
Awake nasotracheal intubation using fiberoptic bronchoscope in a pediatric patient with Freeman-Sheldon syndrome. ( 16101713 )
2005
49
Freeman-Sheldon syndrome: report of one case. ( 16640009 )
2005
50
Freeman-Sheldon syndrome. ( 16085975 )
2005

Variations for Arthrogryposis, Distal, Type 2a

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

76
# Symbol AA change Variation ID SNP ID
1 MYH3 p.Thr178Ile VAR_030370 rs121913619
2 MYH3 p.Glu498Gly VAR_030374
3 MYH3 p.Tyr583Ser VAR_030376
4 MYH3 p.Arg672Cys VAR_030377 rs121913618
5 MYH3 p.Arg672His VAR_030378 rs121913617
6 MYH3 p.Val825Asp VAR_030380 rs121913620

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

6 (show top 50) (show all 222)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH3 NM_002470.3(MYH3): c.3592G> A (p.Ala1198Thr) single nucleotide variant Benign/Likely benign rs61735358 GRCh37 Chromosome 17, 10541497: 10541497
2 MYH3 NM_002470.3(MYH3): c.3592G> A (p.Ala1198Thr) single nucleotide variant Benign/Likely benign rs61735358 GRCh38 Chromosome 17, 10638180: 10638180
3 MYH3 NM_002470.3(MYH3): c.1504T> G (p.Tyr502Asp) single nucleotide variant Likely pathogenic rs797045727 GRCh37 Chromosome 17, 10546220: 10546220
4 MYH3 NM_002470.3(MYH3): c.1504T> G (p.Tyr502Asp) single nucleotide variant Likely pathogenic rs797045727 GRCh38 Chromosome 17, 10642903: 10642903
5 MYH3 NM_002470.3(MYH3): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs121913617 GRCh37 Chromosome 17, 10544634: 10544634
6 MYH3 NM_002470.3(MYH3): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs121913617 GRCh38 Chromosome 17, 10641317: 10641317
7 MYH3 NM_002470.3(MYH3): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs121913618 GRCh37 Chromosome 17, 10544635: 10544635
8 MYH3 NM_002470.3(MYH3): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs121913618 GRCh38 Chromosome 17, 10641318: 10641318
9 MYH3 NM_002470.3(MYH3): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs121913619 GRCh37 Chromosome 17, 10553691: 10553691
10 MYH3 NM_002470.3(MYH3): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs121913619 GRCh38 Chromosome 17, 10650374: 10650374
11 MYH3 NM_002470.3(MYH3): c.2474T> A (p.Val825Asp) single nucleotide variant Pathogenic rs121913620 GRCh37 Chromosome 17, 10543521: 10543521
12 MYH3 NM_002470.3(MYH3): c.2474T> A (p.Val825Asp) single nucleotide variant Pathogenic rs121913620 GRCh38 Chromosome 17, 10640204: 10640204
13 MYH3 NM_002470.3(MYH3): c.2106C> T (p.Gly702=) single nucleotide variant Benign/Likely benign rs56259391 GRCh37 Chromosome 17, 10544461: 10544461
14 MYH3 NM_002470.3(MYH3): c.2106C> T (p.Gly702=) single nucleotide variant Benign/Likely benign rs56259391 GRCh38 Chromosome 17, 10641144: 10641144
15 MYH3 NM_002470.3(MYH3): c.2151C> A (p.Gly717=) single nucleotide variant Benign/Likely benign rs876657 GRCh37 Chromosome 17, 10544416: 10544416
16 MYH3 NM_002470.3(MYH3): c.2151C> A (p.Gly717=) single nucleotide variant Benign/Likely benign rs876657 GRCh38 Chromosome 17, 10641099: 10641099
17 MYH3 NM_002470.3(MYH3): c.2532A> G (p.Ala844=) single nucleotide variant Benign/Likely benign rs2285469 GRCh37 Chromosome 17, 10543463: 10543463
18 MYH3 NM_002470.3(MYH3): c.2532A> G (p.Ala844=) single nucleotide variant Benign/Likely benign rs2285469 GRCh38 Chromosome 17, 10640146: 10640146
19 MYH3 NM_002470.3(MYH3): c.2610A> G (p.Lys870=) single nucleotide variant Benign/Likely benign rs56163389 GRCh37 Chromosome 17, 10543385: 10543385
20 MYH3 NM_002470.3(MYH3): c.2610A> G (p.Lys870=) single nucleotide variant Benign/Likely benign rs56163389 GRCh38 Chromosome 17, 10640068: 10640068
21 MYH3 NM_002470.3(MYH3): c.2916A> G (p.Thr972=) single nucleotide variant Benign/Likely benign rs2285472 GRCh37 Chromosome 17, 10542886: 10542886
22 MYH3 NM_002470.3(MYH3): c.2916A> G (p.Thr972=) single nucleotide variant Benign/Likely benign rs2285472 GRCh38 Chromosome 17, 10639569: 10639569
23 MYH3 NM_002470.3(MYH3): c.2952T> C (p.Ser984=) single nucleotide variant Benign/Likely benign rs2285474 GRCh37 Chromosome 17, 10542765: 10542765
24 MYH3 NM_002470.3(MYH3): c.2952T> C (p.Ser984=) single nucleotide variant Benign/Likely benign rs2285474 GRCh38 Chromosome 17, 10639448: 10639448
25 MYH3 NM_002470.3(MYH3): c.3008C> T (p.Ala1003Val) single nucleotide variant Benign/Likely benign rs34088014 GRCh37 Chromosome 17, 10542709: 10542709
26 MYH3 NM_002470.3(MYH3): c.3008C> T (p.Ala1003Val) single nucleotide variant Benign/Likely benign rs34088014 GRCh38 Chromosome 17, 10639392: 10639392
27 MYH3 NM_002470.3(MYH3): c.3009G> A (p.Ala1003=) single nucleotide variant Benign/Likely benign rs61735353 GRCh37 Chromosome 17, 10542708: 10542708
28 MYH3 NM_002470.3(MYH3): c.3009G> A (p.Ala1003=) single nucleotide variant Benign/Likely benign rs61735353 GRCh38 Chromosome 17, 10639391: 10639391
29 MYH3 NM_002470.3(MYH3): c.3138A> C (p.Arg1046=) single nucleotide variant Benign/Likely benign rs2285475 GRCh37 Chromosome 17, 10542471: 10542471
30 MYH3 NM_002470.3(MYH3): c.3138A> C (p.Arg1046=) single nucleotide variant Benign/Likely benign rs2285475 GRCh38 Chromosome 17, 10639154: 10639154
31 MYH3 NM_002470.3(MYH3): c.3348T> C (p.Ile1116=) single nucleotide variant Benign/Likely benign rs201626 GRCh37 Chromosome 17, 10541741: 10541741
32 MYH3 NM_002470.3(MYH3): c.3348T> C (p.Ile1116=) single nucleotide variant Benign/Likely benign rs201626 GRCh38 Chromosome 17, 10638424: 10638424
33 MYH3 NM_002470.3(MYH3): c.3574G> A (p.Ala1192Thr) single nucleotide variant Benign/Likely benign rs2285477 GRCh37 Chromosome 17, 10541515: 10541515
34 MYH3 NM_002470.3(MYH3): c.3574G> A (p.Ala1192Thr) single nucleotide variant Benign/Likely benign rs2285477 GRCh38 Chromosome 17, 10638198: 10638198
35 MYH3 NM_002470.3(MYH3): c.3726T> C (p.Ser1242=) single nucleotide variant Benign/Likely benign rs77946261 GRCh37 Chromosome 17, 10541363: 10541363
36 MYH3 NM_002470.3(MYH3): c.3726T> C (p.Ser1242=) single nucleotide variant Benign/Likely benign rs77946261 GRCh38 Chromosome 17, 10638046: 10638046
37 MYH3 NM_002470.3(MYH3): c.3938C> T (p.Thr1313Ile) single nucleotide variant Benign/Likely benign rs35230241 GRCh37 Chromosome 17, 10539089: 10539089
38 MYH3 NM_002470.3(MYH3): c.3938C> T (p.Thr1313Ile) single nucleotide variant Benign/Likely benign rs35230241 GRCh38 Chromosome 17, 10635772: 10635772
39 MYH3 NM_002470.3(MYH3): c.4128C> T (p.Tyr1376=) single nucleotide variant Benign/Likely benign rs112569418 GRCh37 Chromosome 17, 10538728: 10538728
40 MYH3 NM_002470.3(MYH3): c.4128C> T (p.Tyr1376=) single nucleotide variant Benign/Likely benign rs112569418 GRCh38 Chromosome 17, 10635411: 10635411
41 MYH3 NM_002470.3(MYH3): c.4155A> G (p.Glu1385=) single nucleotide variant Benign/Likely benign rs58343499 GRCh37 Chromosome 17, 10538701: 10538701
42 MYH3 NM_002470.3(MYH3): c.4155A> G (p.Glu1385=) single nucleotide variant Benign/Likely benign rs58343499 GRCh38 Chromosome 17, 10635384: 10635384
43 MYH3 NM_002470.3(MYH3): c.4731C> T (p.Ile1577=) single nucleotide variant Benign/Likely benign rs2285479 GRCh37 Chromosome 17, 10536018: 10536018
44 MYH3 NM_002470.3(MYH3): c.4731C> T (p.Ile1577=) single nucleotide variant Benign/Likely benign rs2285479 GRCh38 Chromosome 17, 10632701: 10632701
45 MYH3 NM_002470.3(MYH3): c.5254G> A (p.Ala1752Thr) single nucleotide variant Benign/Likely benign rs34393601 GRCh37 Chromosome 17, 10534960: 10534960
46 MYH3 NM_002470.3(MYH3): c.5254G> A (p.Ala1752Thr) single nucleotide variant Benign/Likely benign rs34393601 GRCh38 Chromosome 17, 10631643: 10631643
47 MYH3 NM_002470.3(MYH3): c.5457+3G> A single nucleotide variant Benign/Likely benign rs200954595 GRCh37 Chromosome 17, 10533602: 10533602
48 MYH3 NM_002470.3(MYH3): c.5457+3G> A single nucleotide variant Benign/Likely benign rs200954595 GRCh38 Chromosome 17, 10630285: 10630285
49 MYH3 NM_002470.3(MYH3): c.699C> T (p.Asn233=) single nucleotide variant Benign/Likely benign rs16943604 GRCh37 Chromosome 17, 10551910: 10551910
50 MYH3 NM_002470.3(MYH3): c.699C> T (p.Asn233=) single nucleotide variant Benign/Likely benign rs16943604 GRCh38 Chromosome 17, 10648593: 10648593

Expression for Arthrogryposis, Distal, Type 2a

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

Pathways for Arthrogryposis, Distal, Type 2a

GO Terms for Arthrogryposis, Distal, Type 2a

Sources for Arthrogryposis, Distal, Type 2a

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