DA2A
MCID: ART061
MIFTS: 46

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 57 13 40
Freeman-Sheldon Syndrome 57 25 59 75 29 6 73
Craniocarpotarsal Dystrophy 57 53 25 59 75
Craniocarpotarsal Dysplasia 57 53 25 59 75
Whistling Face-Windmill Vane Hand Syndrome 57 53 25 75
Da2a 57 53 25 75
Fss 57 53 25 75
Distal Arthrogryposis Type 2a 53 59
Whistling Face Syndrome 25 59
Distal Arthrogryposis, Type 2a 25
Freeman-Sheldon Syndrome; Fss 57
Arthrogryposis Distal Type 2a 53
Arthrogryposis, Distal, 2a 75
Freeman Sheldon Syndrome 53
Freemansheldon Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
freeman-sheldon syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Miscellaneous:
breech presentation
see also da2b , which is an allelic disorder
autosomal recessive form has also been described

Inheritance:
autosomal dominant


HPO:

32
arthrogryposis, distal, type 2a:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 2a

NIH Rare Diseases : 53 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 ptosis

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 : 57 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 : 75 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 : 76 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

Symptoms via clinical synopsis from OMIM:

57
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

Voice:
nasal speech

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 Pelvis:
hip dislocation
hip contractures

Skeletal Spine:
spina bifida occulta
kyphoscoliosis

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

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

59 32 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
5 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
6 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
7 abnormality of the dentition 59 32 hallmark (90%) Very frequent (99-80%) HP:0000164
8 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
9 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
10 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
11 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
12 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
13 hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100790
14 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
15 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
16 talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001762
17 malignant hyperthermia 59 32 frequent (33%) Frequent (79-30%) HP:0002047
18 underdeveloped nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000430
19 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
20 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
21 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
22 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
23 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
24 nasal speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611
25 oligohydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001562
26 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
27 ulnar deviation of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009465
28 prenatal movement abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0001557
29 absent palmar crease 59 32 occasional (7.5%) Occasional (29-5%) HP:0010489
30 malar flattening 32 HP:0000272
31 short neck 32 HP:0000470
32 high palate 32 HP:0000218
33 intellectual disability 32 very rare (1%) HP:0001249
34 seizures 32 HP:0001250
35 muscle weakness 32 HP:0001324
36 inguinal hernia 32 HP:0000023
37 mandibular prognathia 32 HP:0000303
38 short nose 32 HP:0003196
39 microcephaly 32 HP:0000252
40 fever 32 HP:0001945
41 prominent forehead 32 HP:0011220
42 epicanthus 32 HP:0000286
43 flat face 32 HP:0012368
44 growth delay 59 Very frequent (99-80%)
45 postnatal growth retardation 32 HP:0008897
46 mask-like facies 32 HP:0000298
47 arthrogryposis multiplex congenita 32 HP:0002804
48 telecanthus 32 HP:0000506
49 hip dislocation 32 HP:0002827
50 blepharophimosis 32 HP:0000581

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 Anti-Arrhythmia Agents
4 Neurotransmitter Agents
5 Analgesics
6 Peripheral Nervous System Agents

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 29 MYH3

Anatomical Context for Arthrogryposis, Distal, Type 2a

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

41
Eye, Tongue, Skin, Skeletal Muscle, Bone, Brain, Heart

Publications for Arthrogryposis, Distal, Type 2a

Articles related to Arthrogryposis, Distal, Type 2a:

(show top 50) (show all 94)
# Title Authors Year
1
Head First, Not Feet First: Freeman-Sheldon Syndrome as Primarily a Craniofacial Condition. ( 29370530 )
2018
2
Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery. ( 29666709 )
2018
3
Anesthetic management of a patient with Freeman-Sheldon syndrome in thoracic surgery. ( 29751210 )
2018
4
Reductions in ATPase activity, actin sliding velocity and myofibril stability yield muscle dysfunction in Drosophila models of myosin-based Freeman Sheldon syndrome. ( 30379605 )
2018
5
Revisiting the Many Names of Freeman-Sheldon Syndrome. ( 30400128 )
2018
6
The Obv-Eas Method: An Easy Way to Facilitate Fiberoptic Intubation in Pediatric Patients: Case of an Infant with Freeman-Sheldon Syndrome. ( 30533393 )
2018
7
Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa. ( 28584669 )
2017
8
Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation. ( 26996280 )
2016
9
The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects. ( 26945064 )
2016
10
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
11
Anesthetic considerations in a parturient with Freeman-Sheldon syndrome. ( 27016877 )
2016
12
A Case of Freeman-Sheldon Syndrome: Anesthetic Challenges. ( 27111982 )
2016
13
The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle. ( 25740846 )
2015
14
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
15
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
16
Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features. ( 26494722 )
2015
17
Freeman-Sheldon syndrome: a case report. ( 26637256 )
2015
18
Freeman-Sheldon syndrome and respiratory obstruction: a novel use of distraction osteogenesis. ( 24777016 )
2014
19
Genotype-phenotype relationships in Freeman-Sheldon syndrome. ( 25256237 )
2014
20
Improving oral function and cosmesis in a case of Freeman-Sheldon syndrome. ( 24225909 )
2013
21
Freeman-sheldon syndrome. ( 23277889 )
2013
22
Freeman Sheldon syndrome with marked kyphoscoliosis at birth: a case report. ( 23416834 )
2013
23
Freeman-Sheldon syndrome: a dental perspective. ( 24021330 )
2013
24
A further heterogeneous locus contained in 8q21 for Freeman-Sheldon syndrome may be suggested by Kristin Hofmann. ( 23486078 )
2013
25
Freeman-Sheldon syndrome: combined surgical and non-surgical approach. ( 23218872 )
2013
26
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures. ( 23850728 )
2013
27
Anaesthesia challenges in Freeman-Sheldon syndrome. ( 24403637 )
2013
28
Freeman-Sheldon Syndrome Presenting with Microstomia: A Case Report and Literature Review. ( 24431877 )
2013
29
Anesthetic management of a patient with Freeman-Sheldon syndrome: case report and literature review. ( 22340578 )
2012
30
Severe skew foot deformity in a patient with freeman-sheldon syndrome. ( 22383916 )
2011
31
p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome. ( 20924721 )
2011
32
Freeman-Sheldon syndrome: case report and review of the literature. ( 21986849 )
2011
33
Freeman-Sheldon syndrome with cerebral venous thrombosis: is it a coincidence? ( 20393251 )
2010
34
Surgical and prosthodontic rehabilitation in a patient with Freeman-Sheldon syndrome. ( 20856050 )
2010
35
Freeman-Sheldon syndrome--prenatal and postnatal diagnosis. ( 20012803 )
2010
36
Frontal bandeau reconstruction with a fibula flap in a patient with Freeman-Sheldon syndrome. ( 19165042 )
2009
37
Freeman-Sheldon syndrome: a functional and cosmetic correction of microstomia. ( 19008166 )
2009
38
Freeman-Sheldon syndrome. A case report and review of the literature. ( 18677448 )
2008
39
Anaesthetic management of a child with Freeman-sheldon syndrome undergoing spinal surgery. ( 18361019 )
2008
40
Anesthetic management of a patient with Freeman-Sheldon syndrome: case report. ( 17967677 )
2007
41
Clinical characteristics and natural history of Freeman-Sheldon syndrome. ( 16510655 )
2006
42
Freeman-Sheldon syndrome: a case report. ( 17014544 )
2006
43
Prenatal diagnosis of Freeman-Sheldon syndrome and usefulness of an ultrasound fetal lip width normogram. ( 16715537 )
2006
44
Neuroleptic malignant syndrome induced by metoclopramide in an infant with Freeman-Sheldon syndrome. ( 16931708 )
2006
45
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman- Sheldon syndrome and Sheldon-Hall syndrome. ( 16642020 )
2006
46
Combined spinal-epidural anesthesia for a child with Freeman-Sheldon syndrome with difficult airway. ( 17122295 )
2006
47
Awake nasotracheal intubation using fiberoptic bronchoscope in a pediatric patient with Freeman-Sheldon syndrome. ( 16101713 )
2005
48
Freeman-Sheldon syndrome: report of one case. ( 16640009 )
2005
49
Freeman-Sheldon syndrome. ( 16085975 )
2005
50
Freeman-Sheldon syndrome. ( 15829002 )
2005

Variations for Arthrogryposis, Distal, Type 2a

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

75
# 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 224)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH3 NM_002470.3(MYH3): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs121913617 GRCh37 Chromosome 17, 10544634: 10544634
2 MYH3 NM_002470.3(MYH3): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs121913617 GRCh38 Chromosome 17, 10641317: 10641317
3 MYH3 NM_002470.3(MYH3): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs121913618 GRCh37 Chromosome 17, 10544635: 10544635
4 MYH3 NM_002470.3(MYH3): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs121913618 GRCh38 Chromosome 17, 10641318: 10641318
5 MYH3 NM_002470.3(MYH3): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs121913619 GRCh37 Chromosome 17, 10553691: 10553691
6 MYH3 NM_002470.3(MYH3): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs121913619 GRCh38 Chromosome 17, 10650374: 10650374
7 MYH3 NM_002470.3(MYH3): c.2474T> A (p.Val825Asp) single nucleotide variant Pathogenic rs121913620 GRCh37 Chromosome 17, 10543521: 10543521
8 MYH3 NM_002470.3(MYH3): c.2474T> A (p.Val825Asp) single nucleotide variant Pathogenic rs121913620 GRCh38 Chromosome 17, 10640204: 10640204
9 MYH3 NM_002470.3(MYH3): c.2106C> T (p.Gly702=) single nucleotide variant Benign/Likely benign rs56259391 GRCh37 Chromosome 17, 10544461: 10544461
10 MYH3 NM_002470.3(MYH3): c.2106C> T (p.Gly702=) single nucleotide variant Benign/Likely benign rs56259391 GRCh38 Chromosome 17, 10641144: 10641144
11 MYH3 NM_002470.3(MYH3): c.2151C> A (p.Gly717=) single nucleotide variant Benign/Likely benign rs876657 GRCh37 Chromosome 17, 10544416: 10544416
12 MYH3 NM_002470.3(MYH3): c.2151C> A (p.Gly717=) single nucleotide variant Benign/Likely benign rs876657 GRCh38 Chromosome 17, 10641099: 10641099
13 MYH3 NM_002470.3(MYH3): c.2532A> G (p.Ala844=) single nucleotide variant Benign/Likely benign rs2285469 GRCh37 Chromosome 17, 10543463: 10543463
14 MYH3 NM_002470.3(MYH3): c.2532A> G (p.Ala844=) single nucleotide variant Benign/Likely benign rs2285469 GRCh38 Chromosome 17, 10640146: 10640146
15 MYH3 NM_002470.3(MYH3): c.2610A> G (p.Lys870=) single nucleotide variant Benign/Likely benign rs56163389 GRCh37 Chromosome 17, 10543385: 10543385
16 MYH3 NM_002470.3(MYH3): c.2610A> G (p.Lys870=) single nucleotide variant Benign/Likely benign rs56163389 GRCh38 Chromosome 17, 10640068: 10640068
17 MYH3 NM_002470.3(MYH3): c.2916A> G (p.Thr972=) single nucleotide variant Benign/Likely benign rs2285472 GRCh37 Chromosome 17, 10542886: 10542886
18 MYH3 NM_002470.3(MYH3): c.2916A> G (p.Thr972=) single nucleotide variant Benign/Likely benign rs2285472 GRCh38 Chromosome 17, 10639569: 10639569
19 MYH3 NM_002470.3(MYH3): c.2952T> C (p.Ser984=) single nucleotide variant Benign/Likely benign rs2285474 GRCh37 Chromosome 17, 10542765: 10542765
20 MYH3 NM_002470.3(MYH3): c.2952T> C (p.Ser984=) single nucleotide variant Benign/Likely benign rs2285474 GRCh38 Chromosome 17, 10639448: 10639448
21 MYH3 NM_002470.3(MYH3): c.3008C> T (p.Ala1003Val) single nucleotide variant Benign/Likely benign rs34088014 GRCh37 Chromosome 17, 10542709: 10542709
22 MYH3 NM_002470.3(MYH3): c.3008C> T (p.Ala1003Val) single nucleotide variant Benign/Likely benign rs34088014 GRCh38 Chromosome 17, 10639392: 10639392
23 MYH3 NM_002470.3(MYH3): c.3009G> A (p.Ala1003=) single nucleotide variant Benign/Likely benign rs61735353 GRCh37 Chromosome 17, 10542708: 10542708
24 MYH3 NM_002470.3(MYH3): c.3009G> A (p.Ala1003=) single nucleotide variant Benign/Likely benign rs61735353 GRCh38 Chromosome 17, 10639391: 10639391
25 MYH3 NM_002470.3(MYH3): c.3138A> C (p.Arg1046=) single nucleotide variant Benign/Likely benign rs2285475 GRCh37 Chromosome 17, 10542471: 10542471
26 MYH3 NM_002470.3(MYH3): c.3138A> C (p.Arg1046=) single nucleotide variant Benign/Likely benign rs2285475 GRCh38 Chromosome 17, 10639154: 10639154
27 MYH3 NM_002470.3(MYH3): c.3348T> C (p.Ile1116=) single nucleotide variant Benign/Likely benign rs201626 GRCh37 Chromosome 17, 10541741: 10541741
28 MYH3 NM_002470.3(MYH3): c.3348T> C (p.Ile1116=) single nucleotide variant Benign/Likely benign rs201626 GRCh38 Chromosome 17, 10638424: 10638424
29 MYH3 NM_002470.3(MYH3): c.3574G> A (p.Ala1192Thr) single nucleotide variant Benign/Likely benign rs2285477 GRCh37 Chromosome 17, 10541515: 10541515
30 MYH3 NM_002470.3(MYH3): c.3574G> A (p.Ala1192Thr) single nucleotide variant Benign/Likely benign rs2285477 GRCh38 Chromosome 17, 10638198: 10638198
31 MYH3 NM_002470.3(MYH3): c.3726T> C (p.Ser1242=) single nucleotide variant Benign/Likely benign rs77946261 GRCh37 Chromosome 17, 10541363: 10541363
32 MYH3 NM_002470.3(MYH3): c.3726T> C (p.Ser1242=) single nucleotide variant Benign/Likely benign rs77946261 GRCh38 Chromosome 17, 10638046: 10638046
33 MYH3 NM_002470.3(MYH3): c.3938C> T (p.Thr1313Ile) single nucleotide variant Benign/Likely benign rs35230241 GRCh37 Chromosome 17, 10539089: 10539089
34 MYH3 NM_002470.3(MYH3): c.3938C> T (p.Thr1313Ile) single nucleotide variant Benign/Likely benign rs35230241 GRCh38 Chromosome 17, 10635772: 10635772
35 MYH3 NM_002470.3(MYH3): c.4128C> T (p.Tyr1376=) single nucleotide variant Benign/Likely benign rs112569418 GRCh37 Chromosome 17, 10538728: 10538728
36 MYH3 NM_002470.3(MYH3): c.4128C> T (p.Tyr1376=) single nucleotide variant Benign/Likely benign rs112569418 GRCh38 Chromosome 17, 10635411: 10635411
37 MYH3 NM_002470.3(MYH3): c.4155A> G (p.Glu1385=) single nucleotide variant Benign/Likely benign rs58343499 GRCh37 Chromosome 17, 10538701: 10538701
38 MYH3 NM_002470.3(MYH3): c.4155A> G (p.Glu1385=) single nucleotide variant Benign/Likely benign rs58343499 GRCh38 Chromosome 17, 10635384: 10635384
39 MYH3 NM_002470.3(MYH3): c.4731C> T (p.Ile1577=) single nucleotide variant Benign/Likely benign rs2285479 GRCh37 Chromosome 17, 10536018: 10536018
40 MYH3 NM_002470.3(MYH3): c.4731C> T (p.Ile1577=) single nucleotide variant Benign/Likely benign rs2285479 GRCh38 Chromosome 17, 10632701: 10632701
41 MYH3 NM_002470.3(MYH3): c.5254G> A (p.Ala1752Thr) single nucleotide variant Benign/Likely benign rs34393601 GRCh37 Chromosome 17, 10534960: 10534960
42 MYH3 NM_002470.3(MYH3): c.5254G> A (p.Ala1752Thr) single nucleotide variant Benign/Likely benign rs34393601 GRCh38 Chromosome 17, 10631643: 10631643
43 MYH3 NM_002470.3(MYH3): c.5457+3G> A single nucleotide variant Benign/Likely benign rs200954595 GRCh37 Chromosome 17, 10533602: 10533602
44 MYH3 NM_002470.3(MYH3): c.5457+3G> A single nucleotide variant Benign/Likely benign rs200954595 GRCh38 Chromosome 17, 10630285: 10630285
45 MYH3 NM_002470.3(MYH3): c.699C> T (p.Asn233=) single nucleotide variant Benign/Likely benign rs16943604 GRCh37 Chromosome 17, 10551910: 10551910
46 MYH3 NM_002470.3(MYH3): c.699C> T (p.Asn233=) single nucleotide variant Benign/Likely benign rs16943604 GRCh38 Chromosome 17, 10648593: 10648593
47 MYH3 NM_002470.3(MYH3): c.6T> C (p.Ser2=) single nucleotide variant Benign/Likely benign rs17817203 GRCh37 Chromosome 17, 10558376: 10558376
48 MYH3 NM_002470.3(MYH3): c.6T> C (p.Ser2=) single nucleotide variant Benign/Likely benign rs17817203 GRCh38 Chromosome 17, 10655059: 10655059
49 MYH3 NM_002470.3(MYH3): c.3592G> A (p.Ala1198Thr) single nucleotide variant Benign/Likely benign rs61735358 GRCh37 Chromosome 17, 10541497: 10541497
50 MYH3 NM_002470.3(MYH3): c.3592G> A (p.Ala1198Thr) single nucleotide variant Benign/Likely benign rs61735358 GRCh38 Chromosome 17, 10638180: 10638180

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....