DA2A
MCID: ART061
MIFTS: 58

Arthrogryposis, Distal, Type 2a (DA2A)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin 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 29 13 39
Freeman-Sheldon Syndrome 57 12 73 20 43 58 72 29 6 44 15 70
Craniocarpotarsal Dystrophy 57 12 20 43 58 72
Craniocarpotarsal Dysplasia 57 12 20 43 58 72
Whistling Face-Windmill Vane Hand Syndrome 57 12 20 43 72
Da2a 57 12 20 43 72
Distal Arthrogryposis Type 2a 12 20 58 15
Fss 57 20 43 72
Whistling Face Syndrome 12 43 58
Freeman-Burian Syndrome 20 58
Distal Arthrogryposis, Type 2a 43
Freeman-Sheldon Syndrome; Fss 57
Arthrogryposis Distal Type 2a 20
Arthrogryposis, Distal, 2a 72

Characteristics:

Orphanet epidemiological data:

58
freeman-sheldon syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
breech presentation
see also da2b , which is an allelic disorder
autosomal recessive form has also been described

Inheritance:
autosomal dominant


HPO:

31
arthrogryposis, distal, type 2a:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Arthrogryposis, Distal, Type 2a

MedlinePlus Genetics : 43 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."People with Freeman-Sheldon syndrome may also have a prominent forehead and brow ridges, a sunken appearance of the middle of the face (midface hypoplasia), a short nose, a long area between the nose and mouth (philtrum), deep folds in the skin between the nose and lips (nasolabial folds), full cheeks, and a chin dimple shaped like an "H" or "V".Affected individuals may have a number of abnormalities that affect the eyes. These may include widely spaced eyes (hypertelorism), deep-set eyes, outside corners of the eyes that point downward (down-slanting palpebral fissures), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and eyes that do not look in the same direction (strabismus).Other facial features that may occur in Freeman-Sheldon syndrome include an unusually small tongue (microglossia) and jaw (micrognathia) and a high arch in the roof of the mouth (high-arched palate). People with this disorder may have difficulty swallowing (dysphagia), a failure to gain weight and grow at the expected rate (failure to thrive), and respiratory complications that may be life-threatening. Speech problems are also common in this disorder. Some affected individuals have hearing loss.Freeman-Sheldon syndrome is also characterized by joint deformities (contractures) that restrict movement. People with this disorder typically have multiple contractures in the hands and feet at birth (distal arthrogryposis). These contractures lead to permanently bent fingers and toes (camptodactyly), a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation, also called "windmill vane hand"), and inward- and downward-turning feet (clubfoot). Affected individuals may also have a spine that curves to the side (scoliosis).People with Freeman-Sheldon syndrome also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain. A particular type of muscle relaxant may also trigger the reaction. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless they are treated promptly.Intelligence is unaffected in most people with Freeman-Sheldon syndrome, but approximately one-third have some degree of intellectual disability.

MalaCards based summary : Arthrogryposis, Distal, Type 2a, also known as freeman-sheldon syndrome, is related to arthrogryposis, distal, type 2b1 and distal arthrogryposis, and has symptoms including seizures An important gene associated with Arthrogryposis, Distal, Type 2a is MYH3 (Myosin Heavy Chain 3), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. The drugs Adenosine and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and skeletal muscle, and related phenotypes are failure to thrive and scoliosis

Disease Ontology : 12 A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.

GARD : 20 Freeman-Sheldon syndrome (FSS) affects the development of the bones, joints, head, and face. Symptoms of FSS are present from birth, and include abnormally flexed joints (joint contractures ), spine abnormalities, and a characteristic facial appearance. People with FSS have a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face". In addition, they may have deep nasolabial folds (the skin between the nose and the lips) and a V-shaped chin dimple. There may be abnormalities of the eyes such as wide-spaced eyes (hypertelorism) and a narrowing of the eye opening (blepharophimosis). People with FSS often have breathing, eating, and speech problems. The joint and spine problems may get worse over time. FSS is thought to be caused by variants in the MYH3 gene. Most cases occur by chance. Rarely, FSS is inherited in an autosomal dominant manner. Diagnosis is based on a specific set of symptoms, clinical exam, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms and may involve corrective surgery.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 a H-shaped dimple of the chin.

Wikipedia : 73 Freeman-Sheldon syndrome (FSS) is a very rare form of multiple congenital contracture (MCC) syndromes... more...

Related Diseases for Arthrogryposis, Distal, Type 2a

Diseases in the Distal Arthrogryposis family:

Arthrogryposis, Distal, Type 1a Arthrogryposis, Distal, Type 5
Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 3
Arthrogryposis, Distal, Type 2e Arthrogryposis, Distal, Type 7
Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 2a
Arthrogryposis, Distal, Type 2b1 Arthrogryposis, Distal, Type 4
Arthrogryposis, Distal, Type 1b Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b2 Arthrogryposis, Distal, Type 2b3
Arthrogryposis, Distal, Type 1c

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 2b1 32.7 TPM2 TNNT3 TNNI2 NALCN MYH3
2 distal arthrogryposis 31.5 TPM2 TNNT3 TNNI2 PIEZO2 PFDN4 NALCN
3 congenital contractures 31.2 TNNT3 NALCN
4 arthrogryposis, distal, type 5 31.2 TPM2 TNNT3 TNNI2 SOX6 PIEZO2 PFDN4
5 clubfoot 30.8 TPM2 TNNT3 MYH8 MYH3 MYBPC1 ECEL1
6 coloboma of macula 29.8 TACR3 PITX3 OTX2
7 arthrogryposis, distal, type 1a 27.9 ZDHHC2 TPM2 TNNT3 TNNI2 TACR3 SOX6
8 illum syndrome 11.4
9 autosomal recessive whistling face syndrome 11.3
10 whistling face syndrome, recessive form 10.9
11 subvalvular aortic stenosis 10.9
12 congenital amyoplasia 10.9
13 myopathy 10.6
14 malignant hyperthermia 10.6
15 scoliosis 10.6
16 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.5
17 batten-turner congenital myopathy 10.5
18 strabismus 10.4
19 blepharophimosis 10.4
20 pneumonia 10.4
21 mechanical strabismus 10.4
22 hypertelorism 10.3
23 laryngomalacia 10.3
24 arthrogryposis, distal, type 2b3 10.3
25 ptosis 10.3
26 inguinal hernia 10.3
27 respiratory failure 10.3
28 neuroleptic malignant syndrome 10.3
29 dysphagia 10.3
30 specific language disorder 10.2
31 hyaline body myopathy 10.2 MYH8 MYH3
32 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.2 TPM2 TNNT3 TNNI2
33 fissured tongue 10.2 TNNT3 TNNI2 ECEL1
34 apnea, obstructive sleep 10.1
35 cleft palate, isolated 10.1
36 epicanthus 10.1
37 hernia, hiatus 10.1
38 neural tube defects 10.1
39 thumb deformity 10.1
40 polydactyly 10.1
41 choanal atresia, posterior 10.1
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
43 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.1
44 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
45 pulmonary hypertension 10.1
46 aspiration pneumonia 10.1
47 sleep apnea 10.1
48 thrombosis 10.1
49 spina bifida occulta 10.1
50 bronchopneumonia 10.1

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:

58 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 scoliosis 58 31 very rare (1%) Very frequent (99-80%) HP:0002650
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 abnormality of the dentition 58 31 hallmark (90%) Very frequent (99-80%) HP:0000164
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
7 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
8 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
9 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
10 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
11 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
12 ulnar deviation of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009465
13 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
14 underdeveloped nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000430
15 dimple chin 31 hallmark (90%) HP:0010751
16 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
17 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
18 hearing impairment 58 31 very rare (1%) Frequent (79-30%) HP:0000365
19 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
20 strabismus 58 31 very rare (1%) Frequent (79-30%) HP:0000486
21 cryptorchidism 58 31 very rare (1%) Frequent (79-30%) HP:0000028
22 malignant hyperthermia 58 31 very rare (1%) Frequent (79-30%) HP:0002047
23 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
24 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
25 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
26 prenatal movement abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0001557
27 hernia 58 31 very rare (1%) Occasional (29-5%) HP:0100790
28 polyhydramnios 58 31 very rare (1%) Occasional (29-5%) HP:0001561
29 oligohydramnios 58 31 very rare (1%) Occasional (29-5%) HP:0001562
30 absent palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0010489
31 intellectual disability 31 very rare (1%) HP:0001249
32 recurrent respiratory infections 31 very rare (1%) HP:0002205
33 elbow flexion contracture 31 very rare (1%) HP:0002987
34 motor delay 31 very rare (1%) HP:0001270
35 arthralgia 31 very rare (1%) HP:0002829
36 dental crowding 31 very rare (1%) HP:0000678
37 recurrent fractures 31 very rare (1%) HP:0002757
38 joint dislocation 31 very rare (1%) HP:0001373
39 decreased fetal movement 31 very rare (1%) HP:0001558
40 wrist flexion contracture 31 very rare (1%) HP:0001239
41 hip contracture 31 very rare (1%) HP:0003273
42 knee flexion contracture 31 very rare (1%) HP:0006380
43 flexion contracture of finger 31 very rare (1%) HP:0012785
44 restricted neck movement due to contractures 31 very rare (1%) HP:0005997
45 high palate 31 HP:0000218
46 short neck 31 HP:0000470
47 muscle weakness 31 HP:0001324
48 inguinal hernia 31 HP:0000023
49 mandibular prognathia 31 HP:0000303
50 short nose 31 HP:0003196

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
mental retardation (31%)

Head And Neck Neck:
short neck

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

Skeletal Feet:
vertical talus
equinovarus
contracted toes

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

Voice:
nasal speech

Skeletal Hands:
camptodactyly
ulnar deviation
cortical thumbs

Skeletal Limbs:
knee contractures
shoulder contractures

Growth Weight:
low birth weight

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

Clinical features from OMIM®:

193700 (Updated 20-May-2021)

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


seizures

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.44 EN1 GSG1L MYH8 NALCN OTX2 PIEZO2

Drugs & Therapeutics for Arthrogryposis, Distal, Type 2a

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2 Analgesics
3 Anti-Arrhythmia Agents
4 Vasodilator Agents
5 Neurotransmitter Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Recruiting NCT01144741
2 Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters Not yet recruiting NCT01306994
3 Freeman-Sheldon Syndrome Quality of Life Study (FSS-QLS): Cross-sectional Study of Concomitant Disorder-Specific Contributors to Quality of Life and Clinical Outcome Terminated NCT01307475

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

Cochrane evidence based reviews: freeman-sheldon syndrome

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
2 Arthrogryposis, Distal, Type 2a (freeman-Sheldon) 29

Anatomical Context for Arthrogryposis, Distal, Type 2a

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

40
Eye, Tongue, Skeletal Muscle, Lung, Brain, Heart, Skin

Publications for Arthrogryposis, Distal, Type 2a

Articles related to Arthrogryposis, Distal, Type 2a:

(show top 50) (show all 183)
# Title Authors PMID Year
1
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. 57 6 61
16642020 2006
2
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. 57 6
18695058 2008
3
Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila. 6 61
30826400 2019
4
Reductions in ATPase activity, actin sliding velocity, and myofibril stability yield muscle dysfunction in Drosophila models of myosin-based Freeman-Sheldon syndrome. 61 6
30379605 2019
5
Genotype-phenotype relationships in Freeman-Sheldon syndrome. 57 61
25256237 2014
6
Targeted capture and massively parallel sequencing of 12 human exomes. 57 61
19684571 2009
7
Clinical characteristics and natural history of Freeman-Sheldon syndrome. 61 57
16510655 2006
8
Freeman-Sheldon syndrome: case management from age 6 to 16 years. 57 61
9138511 1997
9
Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss. 61 57
8882790 1996
10
Dominant distal arthrogryposis in a Maori family with marked variability of expression. 61 57
7762579 1995
11
Ocular abnormalities in the Freeman-Sheldon syndrome. 61 57
3752200 1986
12
Freeman-Sheldon syndrome: a disorder of congenital myopathic origin? 61 57
3723551 1986
13
A case of Freeman-Sheldon syndrome (cranio-carpotarsal dysplasia) with spatulate ("canoe paddle") ribs. 61 57
6821743 1983
14
The distal arthrogryposes: delineation of new entities--review and nosologic discussion. 57 61
7039311 1982
15
Arthrogryposis: a review and update. 57
19571066 2009
16
Distal arthrogryposis type 2A may be associated with juvenile glaucoma. 57
16278894 2005
17
Progressive neurological deterioration in a child with distal arthrogryposis and whistling face. 57
10777369 2000
18
Whistling face syndrome with normal hands. 57
10678667 2000
19
Whistling face phenotype without limb abnormalities. 57
10440836 1999
20
A revised and extended classification of the distal arthrogryposes. 57
8923935 1996
21
Otolaryngologic findings in whistling face syndrome. 57
2803721 1989
22
A family with whistling-face-syndrome. 57
7450762 1980
23
Freeman-Sheldon ("whistling face") syndrome. 57
814126 1976
24
M--craniocarpotarsal dystrophy (whistling face syndrome) in two families. 57
4220006 1974
25
[Windmill vane-like finger deformities]. 57
4263226 1972
26
"Whistling face" deformity in compound cranio-facio-corporal syndrome. 57
5470434 1970
27
Picture of the month. Oral-facial-digital syndrome. 57
5458559 1970
28
Cranio-carpo-tarsal dysplasia. Report of a case in father and son. 57
5467037 1970
29
Craniocarpotarsal dysplasia or whistling face syndrome. 57
5410086 1970
30
Cranio-carpo-tarsal dysplasia or the whistling face syndrome. II. Oral intercommissural distance in children. 57
5773411 1969
31
Cranio-carop-tarsal dysplasia or the whistling face syndrome. I. Clinical considerations. 57
4975238 1969
32
Freeman-Sheldon's syndrome, cranio-carpo-tarsal dystrophy. 57
5706373 1968
33
[Congenital windmill sail position as a genetic combination abnormality]. 57
4230897 1966
34
The "whistling face" characteristic in a compound cranio-facio-corporal syndrome. 57
14017017 1963
35
[Freeman and Sheldon's cranio-carpo-tarsal dystrophy; a casuistic report]. 57
13103378 1953
36
Cranio-carpo-tarsal dystrophy. 57
21032118 1938
37
Prolonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome. 61
33524372 2021
38
Novel ophthalmic features of Freeman-Sheldon syndrome. 61
33551110 2021
39
Letter: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70). 61
33152847 2020
40
Response: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70). 61
33152848 2020
41
Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment. 61
32714615 2020
42
Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism. 61
32799913 2020
43
Identification and Recent Approaches for Evaluation and Management of Dentofacial and Otolaryngologic Concerns for Patients With Freeman-Burian Syndrome: Principles for Global Treatment. 61
31985597 2020
44
Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency. 61
32392656 2020
45
Anesthesia Challenges in the Management of Freeman-Sheldon Syndrome: Report of Two Cases and Literature Review. 61
32008616 2020
46
Identification and Recent Approaches for Evaluation, Operative Counseling, and Management in Patients With Freeman-Burian Syndrome: Principles for Global Treatment. 61
31567769 2019
47
Revisiting the Many Names of Freeman-Sheldon Syndrome. 61
30400128 2018
48
The Obv-Eas Method: An Easy Way to Facilitate Fiberoptic Intubation in Pediatric Patients: Case of an Infant with Freeman-Sheldon Syndrome. 61
30533393 2018
49
Anesthetic management of a patient with Freeman-Sheldon syndrome in thoracic surgery. 61
29751210 2018
50
Head First, Not Feet First: Freeman-Sheldon Syndrome as Primarily a Craniofacial Condition. 61
29370530 2018

Variations for Arthrogryposis, Distal, Type 2a

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

6 (show top 50) (show all 176)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH3 NM_002470.4(MYH3):c.2014C>T (p.Arg672Cys) SNV Pathogenic 14139 rs121913618 GRCh37: 17:10544635-10544635
GRCh38: 17:10641318-10641318
2 MYH3 NM_002470.4(MYH3):c.533C>T (p.Thr178Ile) SNV Pathogenic 14140 rs121913619 GRCh37: 17:10553691-10553691
GRCh38: 17:10650374-10650374
3 MYH3 NM_002470.4(MYH3):c.2474T>A (p.Val825Asp) SNV Pathogenic 14141 rs121913620 GRCh37: 17:10543521-10543521
GRCh38: 17:10640204-10640204
4 MYH3 NM_002470.4(MYH3):c.1748A>C (p.Tyr583Ser) SNV Pathogenic 694360 rs1597488038 GRCh37: 17:10545874-10545874
GRCh38: 17:10642557-10642557
5 MYH3 NM_002470.4(MYH3):c.3385dup (p.Thr1129fs) Duplication Pathogenic 1030561 GRCh37: 17:10541703-10541704
GRCh38: 17:10638386-10638387
6 MYH3 NM_002470.4(MYH3):c.5817_5823del (p.Glu1940fs) Microsatellite Pathogenic 1033927 GRCh37: 17:10531970-10531976
GRCh38: 17:10628653-10628659
7 MYH3 NM_002470.4(MYH3):c.2015G>A (p.Arg672His) SNV Pathogenic/Likely pathogenic 14138 rs121913617 GRCh37: 17:10544634-10544634
GRCh38: 17:10641317-10641317
8 MYH3 NM_002470.4(MYH3):c.1504T>G (p.Tyr502Asp) SNV Likely pathogenic 211550 rs797045727 GRCh37: 17:10546220-10546220
GRCh38: 17:10642903-10642903
9 MYH3 NM_002470.4(MYH3):c.700G>A (p.Ala234Thr) SNV Likely pathogenic 14145 rs121913623 GRCh37: 17:10551909-10551909
GRCh38: 17:10648592-10648592
10 MYH3 NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) SNV Conflicting interpretations of pathogenicity 211555 rs34165480 GRCh37: 17:10535839-10535839
GRCh38: 17:10632522-10632522
11 MYH3 NM_002470.4(MYH3):c.1960-17dup Duplication Conflicting interpretations of pathogenicity 321751 rs3216884 GRCh37: 17:10544696-10544697
GRCh38: 17:10641379-10641380
12 MYH3 NM_002470.4(MYH3):c.5674G>A (p.Ala1892Thr) SNV Uncertain significance 321709 rs780846542 GRCh37: 17:10533036-10533036
GRCh38: 17:10629719-10629719
13 MYH3 NM_002470.4(MYH3):c.5669C>G (p.Ala1890Gly) SNV Uncertain significance 321710 rs886052578 GRCh37: 17:10533041-10533041
GRCh38: 17:10629724-10629724
14 MYH3 NM_002470.4(MYH3):c.440A>G (p.Lys147Arg) SNV Uncertain significance 321770 rs886052588 GRCh37: 17:10554894-10554894
GRCh38: 17:10651577-10651577
15 MYH3 NM_002470.4(MYH3):c.910A>G (p.Ile304Val) SNV Uncertain significance 321765 rs886052586 GRCh37: 17:10549338-10549338
GRCh38: 17:10646021-10646021
16 MYH3 NM_002470.4(MYH3):c.5286+6G>C SNV Uncertain significance 321718 rs576168867 GRCh37: 17:10534922-10534922
GRCh38: 17:10631605-10631605
17 MYH3 NM_002470.4(MYH3):c.4925A>G (p.Lys1642Arg) SNV Uncertain significance 321722 rs143396252 GRCh37: 17:10535824-10535824
GRCh38: 17:10632507-10632507
18 MYH3 NM_002470.4(MYH3):c.5134G>C (p.Glu1712Gln) SNV Uncertain significance 321721 rs376574468 GRCh37: 17:10535156-10535156
GRCh38: 17:10631839-10631839
19 MYH3 NM_002470.4(MYH3):c.459C>T (p.Pro153=) SNV Uncertain significance 321769 rs886052587 GRCh37: 17:10554875-10554875
GRCh38: 17:10651558-10651558
20 MYH3 NM_002470.4(MYH3):c.3883A>G (p.Lys1295Glu) SNV Uncertain significance 321730 rs886052580 GRCh37: 17:10539144-10539144
GRCh38: 17:10635827-10635827
21 MYH3 NM_002470.4(MYH3):c.4647G>C (p.Glu1549Asp) SNV Uncertain significance 321724 rs886052579 GRCh37: 17:10536908-10536908
GRCh38: 17:10633591-10633591
22 MYH3 NM_002470.4(MYH3):c.2175G>A (p.Val725=) SNV Uncertain significance 321750 rs750551043 GRCh37: 17:10543994-10543994
GRCh38: 17:10640677-10640677
23 MYH3 NM_002470.4(MYH3):c.3609G>A (p.Glu1203=) SNV Uncertain significance 321734 rs368299686 GRCh37: 17:10541480-10541480
GRCh38: 17:10638163-10638163
24 MYH3 NM_002470.4(MYH3):c.-31C>T SNV Uncertain significance 321777 rs762639909 GRCh37: 17:10559429-10559429
GRCh38: 17:10656112-10656112
25 MYH3 NM_002470.4(MYH3):c.1872G>A (p.Thr624=) SNV Uncertain significance 321755 rs755306757 GRCh37: 17:10545750-10545750
GRCh38: 17:10642433-10642433
26 MYH3 NM_002470.4(MYH3):c.5457+10dup Duplication Uncertain significance 321714 rs761191751 GRCh37: 17:10533593-10533594
GRCh38: 17:10630276-10630277
27 MYH3 NM_002470.4(MYH3):c.5804T>C (p.Val1935Ala) SNV Uncertain significance 321708 rs886052577 GRCh37: 17:10531989-10531989
GRCh38: 17:10628672-10628672
28 MYH3 NM_002470.4(MYH3):c.1142-3C>G SNV Uncertain significance 321763 rs886052585 GRCh37: 17:10548022-10548022
GRCh38: 17:10644705-10644705
29 MYH3 NM_002470.4(MYH3):c.4778G>C (p.Arg1593Thr) SNV Uncertain significance 321723 rs781003211 GRCh37: 17:10535971-10535971
GRCh38: 17:10632654-10632654
30 MYH3 NM_002470.4(MYH3):c.-9+4A>T SNV Uncertain significance 321776 rs886052589 GRCh37: 17:10559403-10559403
GRCh38: 17:10656086-10656086
31 MYH3 NM_002470.4(MYH3):c.-44T>C SNV Uncertain significance 321778 rs886052590 GRCh37: 17:10559442-10559442
GRCh38: 17:10656125-10656125
32 MYH3 NM_002470.4(MYH3):c.3173G>A (p.Gly1058Glu) SNV Uncertain significance 321741 rs886052582 GRCh37: 17:10542436-10542436
GRCh38: 17:10639119-10639119
33 MYH3 NM_002470.4(MYH3):c.1062G>A (p.Thr354=) SNV Uncertain significance 321764 rs746744341 GRCh37: 17:10549103-10549103
GRCh38: 17:10645786-10645786
34 MYH3 NM_002470.4(MYH3):c.1707G>A (p.Val569=) SNV Uncertain significance 321756 rs371043485 GRCh37: 17:10545915-10545915
GRCh38: 17:10642598-10642598
35 MYH3 NM_002470.4(MYH3):c.4591A>G (p.Arg1531Gly) SNV Uncertain significance 885070 GRCh37: 17:10536964-10536964
GRCh38: 17:10633647-10633647
36 MYH3 NM_002470.4(MYH3):c.4529T>C (p.Ile1510Thr) SNV Uncertain significance 885071 GRCh37: 17:10537026-10537026
GRCh38: 17:10633709-10633709
37 MYH3 NM_002470.4(MYH3):c.3532G>A (p.Asp1178Asn) SNV Uncertain significance 885219 GRCh37: 17:10541557-10541557
GRCh38: 17:10638240-10638240
38 MYH3 NM_002470.4(MYH3):c.5034A>G (p.Arg1678=) SNV Uncertain significance 885918 GRCh37: 17:10535256-10535256
GRCh38: 17:10631939-10631939
39 MYH3 NM_002470.4(MYH3):c.4957-5G>T SNV Uncertain significance 885919 GRCh37: 17:10535338-10535338
GRCh38: 17:10632021-10632021
40 MYH3 NM_002470.4(MYH3):c.4734C>T (p.Ala1578=) SNV Uncertain significance 886928 GRCh37: 17:10536015-10536015
GRCh38: 17:10632698-10632698
41 MYH3 NM_002470.4(MYH3):c.4148G>A (p.Arg1383His) SNV Uncertain significance 886990 GRCh37: 17:10538708-10538708
GRCh38: 17:10635391-10635391
42 MYH3 NM_002470.4(MYH3):c.3594G>T (p.Ala1198=) SNV Uncertain significance 887057 GRCh37: 17:10541495-10541495
GRCh38: 17:10638178-10638178
43 MYH3 NM_002470.4(MYH3):c.5250G>A (p.Arg1750=) SNV Uncertain significance 888127 GRCh37: 17:10534964-10534964
GRCh38: 17:10631647-10631647
44 MYH3 NM_002470.4(MYH3):c.3945G>A (p.Glu1315=) SNV Uncertain significance 885148 GRCh37: 17:10539082-10539082
GRCh38: 17:10635765-10635765
45 MYH3 NM_002470.4(MYH3):c.2371G>A (p.Ala791Thr) SNV Uncertain significance 321748 rs886052583 GRCh37: 17:10543705-10543705
GRCh38: 17:10640388-10640388
46 MYH3 NM_002470.4(MYH3):c.2486C>T (p.Pro829Leu) SNV Uncertain significance 321747 rs200652175 GRCh37: 17:10543509-10543509
GRCh38: 17:10640192-10640192
47 MYH3 NM_002470.4(MYH3):c.2813C>A (p.Thr938Lys) SNV Uncertain significance 321745 rs148835368 GRCh37: 17:10542989-10542989
GRCh38: 17:10639672-10639672
48 MYH3 NM_002470.4(MYH3):c.1582-6A>G SNV Uncertain significance 321758 rs767481624 GRCh37: 17:10546046-10546046
GRCh38: 17:10642729-10642729
49 MYH3 NM_002470.4(MYH3):c.1211G>C (p.Arg404Thr) SNV Uncertain significance 321762 rs886052584 GRCh37: 17:10547950-10547950
GRCh38: 17:10644633-10644633
50 MYH3 NM_002470.4(MYH3):c.3439C>A (p.Leu1147Met) SNV Uncertain significance 321740 rs886052581 GRCh37: 17:10541650-10541650
GRCh38: 17:10638333-10638333

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

72
# 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

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

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

# Name GO ID Score Top Affiliating Genes
1 muscle myosin complex GO:0005859 9.26 MYH8 MYH3
2 troponin complex GO:0005861 9.16 TNNT3 TNNI2
3 myofibril GO:0030016 9.13 MYH8 MYH3 MYBPC1
4 myosin filament GO:0032982 8.8 MYH8 MYH3 MYBPC1

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.55 TPM2 TNNT3 TNNI2 MYH8 MYBPC1
2 response to cocaine GO:0042220 9.54 TACR3 PITX3 EN1
3 midbrain development GO:0030901 9.5 PITX3 OTX2 EN1
4 response to morphine GO:0043278 9.46 TACR3 PITX3
5 regulation of muscle contraction GO:0006937 9.43 TNNT3 TNNI2
6 dopaminergic neuron differentiation GO:0071542 9.43 PITX3 OTX2 EN1
7 regulation of ATPase activity GO:0043462 9.4 TPM2 TNNT3
8 skeletal muscle contraction GO:0003009 9.26 TNNT3 TNNI2 MYH8 MYH3
9 muscle filament sliding GO:0030049 9.1 TPM2 TNNT3 TNNI2 MYH8 MYH3 MYBPC1

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.33 TPM2 MYH8 MYBPC1
2 microfilament motor activity GO:0000146 9.26 MYH8 MYH3
3 actin binding GO:0003779 9.1 TPM2 TNNT3 TNNI2 MYH8 MYH3 MYBPC1
4 myosin phosphatase activity GO:0017018 8.96 MYH8 MYH3

Sources for Arthrogryposis, Distal, Type 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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