DA2B1
MCID: ART155
MIFTS: 45

Arthrogryposis, Distal, Type 2b1 (DA2B1)

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 2b1

MalaCards integrated aliases for Arthrogryposis, Distal, Type 2b1:

Name: Arthrogryposis, Distal, Type 2b1 57
Sheldon-Hall Syndrome 57 20 43 58 73
Freeman-Sheldon Syndrome Variant 57 20 58 73
Arthrogryposis Multiplex Congenita, Distal, Type 2b 57 43 13
Distal Arthrogryposis Type 2b 20 43 58
Da2b1 57 12 73
Shs 57 43 73
Arthrogryposis Multiplex Congenita Distal Type Ii with Craniofacial Abnormalities 20 73
Arthrogryposis Multiplex Congenita Distal Type 2b 20 73
Fssv 57 73
Da2b 20 43
Arthrogryposis Multiplex Congenita, Distal, Type Ii, with Craniofacial Abnormalities 57
Freeman-Sheldon Syndrome Variant; Fssv 57
Freeman Sheldon Syndrome, Variant 20
Distal Arthrogryposis Type 2b1 12
Distal Arthrogryposis Type Iib 20
Arthrogryposis, Distal, 2b1 73
Sheldon-Hall Syndrome; Shs 57
Freeman Sheldon Variant 20
Sheldon Hall Syndrome 6
Amcd2b 73

Characteristics:

Orphanet epidemiological data:

58
sheldon-hall syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
arthrogryposis, distal, type 2b1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Arthrogryposis, Distal, Type 2b1

MedlinePlus Genetics : 43 Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). "Distal" refers to areas of the body away from the center. The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity called ulnar deviation in which all of the fingers are angled outward toward the fifth (pinky) finger. Inward- and upward-turning feet (a condition called clubfoot) is also commonly seen in Sheldon-Hall syndrome. The specific hand and foot abnormalities vary among affected individuals; the abnormalities are present at birth and generally do not get worse over time.People with Sheldon-Hall syndrome also usually have distinctive facial features, which include a triangular face; outside corners of the eyes that point downward (down-slanting palpebral fissures); deep folds in the skin between the nose and lips (nasolabial folds); and a small mouth with a high, arched roof of the mouth (palate). Other features that may occur in Sheldon-Hall syndrome include extra folds of skin on the neck (webbed neck) and short stature.Sheldon-Hall syndrome does not usually affect other parts of the body, and intelligence and life expectancy are normal in this disorder.

MalaCards based summary : Arthrogryposis, Distal, Type 2b1, also known as sheldon-hall syndrome, is related to arthrogryposis, distal, type 5 and arthrogryposis, distal, type 1a. An important gene associated with Arthrogryposis, Distal, Type 2b1 is TNNI2 (Troponin I2, Fast Skeletal Type), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include bone and skeletal muscle, and related phenotypes are scoliosis and joint stiffness

Disease Ontology : 12 A distal arthrogryposis type 2B that has material basis in heterozygous mutation in TNNI2 on chromosome 11p15.5.

GARD : 20 Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is characterized by joint deformities (contractures) that restrict movement in the hands and feet. People with this condition may also have distinctive facial features, extra folds of skin on the neck, and short stature. Intelligence and life expectancy are not usually affected. Sheldon-Hall syndrome can be caused by mutations in the MYH3, TNNI2, TNNT3, or TPM2 gene. It is inherited in an autosomal dominant pattern. In about 50% of cases, an affected person inherits the mutation from an affected parent. Other cases result from a new mutation in the gene and occur in people with no family history of the disorder. While there is no specific treatment for this condition, occupational and physical therapy, serial casting, and/or surgery may benefit those who are affected.

OMIM® : 57 Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features (Bamshad et al., 1996). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120). (601680) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Arthrogryposis, distal, 2B1: 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. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B1 inheritance is autosomal dominant.

Related Diseases for Arthrogryposis, Distal, Type 2b1

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 2b1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 5 30.9 TPM2 TNNT3 TNNI2 MYH3
2 arthrogryposis, distal, type 1a 30.3 TPM2 TNNT3 TNNI2 NALCN MYH3
3 congenital contractures 30.1 TNNT3 NALCN
4 clubfoot 29.7 TPM2 TNNT3 MYH3
5 myopathy 29.3 TPM2 TNNI2 MYH3
6 distal arthrogryposis 29.1 TPM2 TNNT3 TNNI2 NALCN MYH3
7 arthrogryposis, distal, type 2a 29.0 TPM2 TNNT3 TNNI2 NALCN MYH3
8 renpenning syndrome 1 11.2
9 congenital amyoplasia 10.5
10 kearns-sayre syndrome 10.3
11 ptosis 10.3
12 arthrogryposis, distal, type 2b3 10.3
13 strabismus 10.1
14 astigmatism 10.1
15 keratoconus 10.1
16 mechanical strabismus 10.1
17 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
18 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
19 arthrogryposis, distal, type 2b2 10.1
20 scoliosis 10.1
21 synostosis 10.1
22 oligohydramnios 10.1
23 epicanthus 10.1
24 polykaryocytosis inducer 10.0
25 ocular motor apraxia 10.0
26 hepatic coma 10.0
27 fissured tongue 9.9 TNNT3 TNNI2
28 arthrogryposis, distal, type 1b 9.9 TNNT3 TNNI2
29 ige responsiveness, atopic 9.9
30 tobacco addiction 9.9
31 asthma 9.9
32 chudley-mccullough syndrome 9.9
33 coronary heart disease 1 9.9
34 smoking as a quantitative trait locus 3 9.9
35 peripheral vascular disease 9.9
36 inflammatory bowel disease 9.9
37 allergic disease 9.9
38 sick building syndrome 9.9
39 fibromyalgia 9.9
40 cerebrovascular disease 9.9
41 chronic fatigue syndrome 9.9
42 bronchopulmonary dysplasia 9.9
43 back pain 9.9
44 chronic pain 9.9
45 congenital structural myopathy 9.7 TPM2 TNNT3
46 arthrogryposis, distal, type 5d 9.7 TNNT3 TNNI2 MYH3
47 spondylocarpotarsal synostosis syndrome 9.7 TNNT3 TNNI2 MYH3
48 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.6 TPM2 TNNT3 TNNI2
49 congenital fiber-type disproportion 9.6 TPM2 TNNT3 TNNI2
50 cardiomyopathy, familial hypertrophic, 1 9.6 TPM2 MYH3

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 2b1:



Diseases related to Arthrogryposis, Distal, Type 2b1

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 2b1

Human phenotypes related to Arthrogryposis, Distal, Type 2b1:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 webbed neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000465
4 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
5 adducted thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0001181
6 aplasia/hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0006501
7 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
8 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
9 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
10 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
11 abnormality of the hip bone 58 31 frequent (33%) Frequent (79-30%) HP:0003272
12 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
13 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
14 round ear 58 31 frequent (33%) Frequent (79-30%) HP:0100830
15 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
16 vertebral segmentation defect 58 31 frequent (33%) Frequent (79-30%) HP:0003422
17 ulnar deviation of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009465
18 tarsal synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0008368
19 ulnar deviation of the wrist 58 31 frequent (33%) Frequent (79-30%) HP:0003049
20 overlapping fingers 58 31 frequent (33%) Frequent (79-30%) HP:0010557
21 mandibular prognathia 31 HP:0000303
22 metatarsus adductus 31 HP:0001840
23 talipes equinovarus 31 HP:0001762
24 downslanted palpebral fissures 31 HP:0000494
25 narrow mouth 31 HP:0000160
26 long philtrum 31 HP:0000343
27 arthrogryposis multiplex congenita 31 HP:0002804
28 camptodactyly of finger 31 HP:0100490
29 triangular face 31 HP:0000325
30 rocker bottom foot 31 HP:0001838
31 abnormality of the ear 31 HP:0000598
32 prominent nasolabial fold 31 HP:0005272
33 distal arthrogryposis 31 HP:0005684
34 calcaneovalgus deformity 31 HP:0001848
35 ulnar deviation of the hand or of fingers of the hand 31 HP:0001193
36 absent phalangeal crease 31 HP:0006109

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Height:
short stature

Head And Neck Neck:
webbed neck

Head And Neck Nose:
broad nasal bridge
prominent nasolabial folds
broad nasal root

Head And Neck Mouth:
high-arched palate
small mouth

Skeletal:
joint contractures
precocious arthrosis

Head And Neck Ears:
attached ear lobules

Head And Neck Face:
micrognathia
long philtrum
triangular face
small mandible
small, prominent chin

Skeletal Feet:
talipes equinovarus
metatarsus varus
vertical talus
clubfoot
calcaneovalgus deformities

Head And Neck Eyes:
downslanting palpebral fissures

Skeletal Hands:
ulnar deviation
severe camptodactyly
overriding fingers (neonate)
thumb adduction
contractures of the proximal interphalangeal (pip) joints
more
Skeletal Spine:
scoliosis (less common)

Skeletal Limbs:
ulnar wrist deviation

Clinical features from OMIM®:

601680 (Updated 05-Mar-2021)

Drugs & Therapeutics for Arthrogryposis, Distal, Type 2b1

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, Type 2b1

Genetic Tests for Arthrogryposis, Distal, Type 2b1

Anatomical Context for Arthrogryposis, Distal, Type 2b1

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 2b1:

40
Bone, Skeletal Muscle

Publications for Arthrogryposis, Distal, Type 2b1

Articles related to Arthrogryposis, Distal, Type 2b1:

(show all 34)
# Title Authors PMID Year
1
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures. 57 6
23850728 2013
2
A TNNI2 mutation in a family with distal arthrogryposis type 2B. 6 57
16497570 2006
3
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. 6 57
12592607 2003
4
Arthrogryposis: a review and update. 57
19571066 2009
5
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. 57
17194691 2007
6
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. 6
17101001 2006
7
A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. 57
16802141 2006
8
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. 57
16924011 2006
9
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). 57
9508073 1998
10
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. 57
9012416 1997
11
A revised and extended classification of the distal arthrogryposes. 57
8923935 1996
12
Dominant distal arthrogryposis in a Maori family with marked variability of expression. 57
7762579 1995
13
Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II? 57
2764034 1989
14
Distal arthrogryposis type II: a family with varying congenital abnormalities. 57
3717209 1986
15
An unusual distal arthrogryposis. 57
3993671 1985
16
The distal arthrogryposes: delineation of new entities--review and nosologic discussion. 57
7039311 1982
17
Cranio-carpo-tarsal dystrophy. 57
21032118 1938
18
[Genetic analysis and prenatal diagnosis of a pregnant woman with Sheldon-Hall syndrome]. 61
32820522 2020
19
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
20
Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome. 61
32149971 2020
21
Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila. 61
30826400 2019
22
A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B). 61
29625835 2018
23
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions. 61
29314551 2018
24
The clubfoot painted by Jusepe de Ribera: a controversial diagnosis. 61
26414783 2016
25
Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features. 61
26494722 2015
26
Anesthetic considerations in Sheldon-Hall syndrome. 61
24829975 2014
27
First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. 61
23678273 2013
28
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. 61
21531865 2011
29
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. 61
21402185 2011
30
Prenatal diagnosis of Sheldon Hall syndrome. 61
19488977 2009
31
Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. 61
19142688 2009
32
Sheldon-Hall syndrome. 61
19309503 2009
33
Distal arthrogryposis syndrome. 61
20300297 2008
34
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. 61
16642020 2006

Variations for Arthrogryposis, Distal, Type 2b1

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 2b1:

6 (show top 50) (show all 193)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNNI2 NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln) SNV Pathogenic 12435 rs104894311 11:1862753-1862753 11:1841523-1841523
2 TNNI2 NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter) SNV Pathogenic 12436 rs104894312 11:1862698-1862698 11:1841468-1841468
3 TNNI2 NM_003282.4(TNNI2):c.496_498GAG[1] (p.Glu167del) Microsatellite Pathogenic 12439 rs199474800 11:1862728-1862730 11:1841498-1841500
4 TNNI2 NM_003282.4(TNNI2):c.493A>T (p.Ile165Phe) SNV Pathogenic 694070 rs1589797063 11:1862725-1862725 11:1841495-1841495
5 TNNI2 NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn) SNV Likely pathogenic 212411 rs797046046 11:1862757-1862757 11:1841527-1841527
6 TPM2 NM_213674.1(TPM2):c.307C>A (p.Gln103Lys) SNV Likely pathogenic 692080 rs1587959107 9:35685711-35685711 9:35685714-35685714
7 MYH3 NM_002470.4(MYH3):c.700G>A (p.Ala234Thr) SNV Likely pathogenic 14145 rs121913623 17:10551909-10551909 17:10648592-10648592
8 MYH3 NM_002470.4(MYH3):c.2716T>A (p.Cys906Ser) SNV Uncertain significance 891299 17:10543086-10543086 17:10639769-10639769
9 MYH3 NM_002470.4(MYH3):c.1130A>G (p.Asp377Gly) SNV Uncertain significance 891422 17:10549035-10549035 17:10645718-10645718
10 MYH3 NM_002470.4(MYH3):c.642+8T>C SNV Uncertain significance 705049 rs370685666 17:10552886-10552886 17:10649569-10649569
11 MYH3 NM_002470.4(MYH3):c.571C>T (p.Arg191Trp) SNV Uncertain significance 889938 17:10552965-10552965 17:10649648-10649648
12 MYH3 NM_002470.4(MYH3):c.509G>A (p.Arg170His) SNV Uncertain significance 889939 17:10553715-10553715 17:10650398-10650398
13 MYH3 NM_002470.4(MYH3):c.505+12A>G SNV Uncertain significance 889940 17:10554817-10554817 17:10651500-10651500
14 MYH3 NM_002470.4(MYH3):c.1881G>A (p.Thr627=) SNV Uncertain significance 891614 17:10545741-10545741 17:10642424-10642424
15 MYH3 NM_002470.4(MYH3):c.347A>G (p.Tyr116Cys) SNV Uncertain significance 891746 17:10555738-10555738 17:10652421-10652421
16 MYH3 NM_002470.4(MYH3):c.298C>T (p.Pro100Ser) SNV Uncertain significance 891747 17:10555787-10555787 17:10652470-10652470
17 MYH3 NM_002470.4(MYH3):c.297G>A (p.Glu99=) SNV Uncertain significance 891748 17:10555788-10555788 17:10652471-10652471
18 MYH3 NM_002470.4(MYH3):c.2523C>T (p.Leu841=) SNV Uncertain significance 892496 17:10543472-10543472 17:10640155-10640155
19 TNNI2 NM_003282.4(TNNI2):c.530T>C (p.Met177Thr) SNV Uncertain significance 975914 11:1862762-1862762 11:1841532-1841532
20 TNNT3 NM_006757.4(TNNT3):c.668G>C (p.Arg223Pro) SNV Uncertain significance 303976 rs766691409 11:1956136-1956136 11:1934906-1934906
21 TNNT3 NM_006757.4(TNNT3):c.-22G>T SNV Uncertain significance 303967 rs879755445 11:1940989-1940989 11:1919759-1919759
22 TNNT3 NM_006757.4(TNNT3):c.*151G>A SNV Uncertain significance 303982 rs544425439 11:1959873-1959873 11:1938643-1938643
23 TNNT3 NM_006757.4(TNNT3):c.*62G>T SNV Uncertain significance 303980 rs886048105 11:1959784-1959784 11:1938554-1938554
24 TNNT3 NM_006757.4(TNNT3):c.491A>G (p.Lys164Arg) SNV Uncertain significance 877247 11:1955786-1955786 11:1934556-1934556
25 TNNT3 NM_006757.4(TNNT3):c.496G>A (p.Gly166Ser) SNV Uncertain significance 878290 11:1955791-1955791 11:1934561-1934561
26 TNNT3 NM_006757.4(TNNT3):c.504G>A (p.Lys168=) SNV Uncertain significance 878291 11:1955799-1955799 11:1934569-1934569
27 TNNT3 NM_006757.4(TNNT3):c.591-12C>T SNV Uncertain significance 878292 11:1956047-1956047 11:1934817-1934817
28 TNNT3 NM_006757.4(TNNT3):c.257A>G (p.Glu86Gly) SNV Uncertain significance 880041 11:1955036-1955036 11:1933806-1933806
29 TNNT3 NM_006757.4(TNNT3):c.*57C>T SNV Uncertain significance 880108 11:1959779-1959779 11:1938549-1938549
30 MYH3 NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) SNV Uncertain significance 211557 rs139480342 17:10550522-10550522 17:10647205-10647205
31 MYH3 NM_002470.4(MYH3):c.4826G>A (p.Arg1609Lys) SNV Uncertain significance 522656 rs1555525264 17:10535923-10535923 17:10632606-10632606
32 MYH3 NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln) SNV Uncertain significance 587607 rs1567553702 17:10538727-10538727 17:10635410-10635410
33 MYH3 NM_002470.4(MYH3):c.5134G>C (p.Glu1712Gln) SNV Uncertain significance 321721 rs376574468 17:10535156-10535156 17:10631839-10631839
34 MYH3 NM_002470.4(MYH3):c.3173G>A (p.Gly1058Glu) SNV Uncertain significance 321741 rs886052582 17:10542436-10542436 17:10639119-10639119
35 MYH3 NM_002470.4(MYH3):c.1703A>G (p.Lys568Arg) SNV Uncertain significance 321757 rs200780612 17:10545919-10545919 17:10642602-10642602
36 MYH3 NM_002470.4(MYH3):c.3609G>A (p.Glu1203=) SNV Uncertain significance 321734 rs368299686 17:10541480-10541480 17:10638163-10638163
37 MYH3 NM_002470.4(MYH3):c.3139G>A (p.Val1047Ile) SNV Uncertain significance 321742 rs542491960 17:10542470-10542470 17:10639153-10639153
38 MYH3 NM_002470.4(MYH3):c.440A>G (p.Lys147Arg) SNV Uncertain significance 321770 rs886052588 17:10554894-10554894 17:10651577-10651577
39 MYH3 NM_002470.4(MYH3):c.*31T>G SNV Uncertain significance 321707 rs201532275 17:10531939-10531939 17:10628622-10628622
40 MYH3 NM_002470.4(MYH3):c.4647G>C (p.Glu1549Asp) SNV Uncertain significance 321724 rs886052579 17:10536908-10536908 17:10633591-10633591
41 MYH3 NM_002470.4(MYH3):c.2683-14C>A SNV Uncertain significance 321746 rs202129717 17:10543133-10543133 17:10639816-10639816
42 MYH3 NM_002470.4(MYH3):c.2486C>T (p.Pro829Leu) SNV Uncertain significance 321747 rs200652175 17:10543509-10543509 17:10640192-10640192
43 MYH3 NM_002470.4(MYH3):c.3535C>G (p.Leu1179Val) SNV Uncertain significance 321736 rs375904355 17:10541554-10541554 17:10638237-10638237
44 MYH3 NM_002470.4(MYH3):c.4323C>T (p.Ala1441=) SNV Uncertain significance 321725 rs185355384 17:10538190-10538190 17:10634873-10634873
45 MYH3 NM_002470.4(MYH3):c.1582-6A>G SNV Uncertain significance 321758 rs767481624 17:10546046-10546046 17:10642729-10642729
46 MYH3 NM_002470.4(MYH3):c.248C>G (p.Pro83Arg) SNV Uncertain significance 321773 rs199513213 17:10555837-10555837 17:10652520-10652520
47 MYH3 NM_002470.4(MYH3):c.5286+6G>C SNV Uncertain significance 321718 rs576168867 17:10534922-10534922 17:10631605-10631605
48 MYH3 NM_002470.4(MYH3):c.5660A>G (p.Asp1887Gly) SNV Uncertain significance 321711 rs147304568 17:10533050-10533050 17:10629733-10629733
49 MYH3 NM_002470.4(MYH3):c.5669C>G (p.Ala1890Gly) SNV Uncertain significance 321710 rs886052578 17:10533041-10533041 17:10629724-10629724
50 MYH3 NM_002470.4(MYH3):c.5562+11C>T SNV Uncertain significance 321713 rs376208076 17:10533398-10533398 17:10630081-10630081

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 2b1:

73
# Symbol AA change Variation ID SNP ID
1 TNNI2 p.Arg174Gln VAR_016087 rs104894311

Expression for Arthrogryposis, Distal, Type 2b1

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 2b1.

Pathways for Arthrogryposis, Distal, Type 2b1

GO Terms for Arthrogryposis, Distal, Type 2b1

Cellular components related to Arthrogryposis, Distal, Type 2b1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 troponin complex GO:0005861 8.62 TNNT3 TNNI2

Biological processes related to Arthrogryposis, Distal, Type 2b1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere organization GO:0045214 9.37 TNNT3 MYH3
2 muscle contraction GO:0006936 9.33 TPM2 TNNT3 TNNI2
3 regulation of muscle contraction GO:0006937 9.32 TNNT3 TNNI2
4 regulation of ATPase activity GO:0043462 9.26 TPM2 TNNT3
5 skeletal muscle contraction GO:0003009 9.13 TNNT3 TNNI2 MYH3
6 muscle filament sliding GO:0030049 8.92 TPM2 TNNT3 TNNI2 MYH3

Molecular functions related to Arthrogryposis, Distal, Type 2b1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 8.96 TPM2 MYH3
2 actin binding GO:0003779 8.92 TPM2 TNNT3 TNNI2 MYH3

Sources for Arthrogryposis, Distal, Type 2b1

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
37 LifeMap
39 LOVD
41 MedGen
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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