DA2B1
MCID: ART155
MIFTS: 50

Arthrogryposis, Distal, Type 2b1 (DA2B1)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory 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 56
Sheldon-Hall Syndrome 56 52 25 58 73
Freeman-Sheldon Syndrome Variant 56 52 58 73
Arthrogryposis Multiplex Congenita, Distal, Type 2b 56 25 13
Distal Arthrogryposis Type 2b 52 25 58
Da2b1 56 12 73
Shs 56 25 73
Arthrogryposis Multiplex Congenita Distal Type Ii with Craniofacial Abnormalities 52 73
Arthrogryposis Multiplex Congenita Distal Type 2b 52 73
Fssv 56 73
Da2b 52 25
Arthrogryposis Multiplex Congenita, Distal, Type Ii, with Craniofacial Abnormalities 56
Freeman-Sheldon Syndrome Variant; Fssv 56
Freeman Sheldon Syndrome, Variant 52
Distal Arthrogryposis Type 2b1 12
Distal Arthrogryposis Type Iib 52
Arthrogryposis, Distal, 2b1 73
Sheldon-Hall Syndrome; Shs 56
Freeman Sheldon Variant 52
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:

56
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

Genetics Home Reference : 25 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 1a and arthrogryposis, distal, type 5. 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. The drugs Adenosine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, 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.

NIH Rare Diseases : 52 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 : 56 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)

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

Diseases related to Arthrogryposis, Distal, Type 2b1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 290)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 1a 31.2 TPM2 TNNT3 TNNI2 MYH3
2 arthrogryposis, distal, type 5 30.7 TPM2 TNNT3 TNNI2 MYH3
3 distal arthrogryposis 30.6 TPM2 TNNT3 TNNI2 NALCN MYH3
4 congenital contractures 29.9 TNNT3 NALCN
5 myopathy 29.1 TPM2 TNNI2 MYH3
6 clubfoot 29.0 TPM2 TNNT3 TNNI2 MYH3
7 arthrogryposis, distal, type 2a 28.6 TPM2 TNNT3 TNNI2 NALCN MYH3
8 renpenning syndrome 1 11.5
9 neuroblastoma 11.0
10 alkuraya-kucinskas syndrome 10.7
11 congenital amyoplasia 10.7
12 dysentery 10.4
13 arthrogryposis, distal, type 2b3 10.4
14 mumps 10.4
15 viral hepatitis 10.4
16 australia antigen 10.3
17 liver disease 10.3
18 hepatitis 10.3
19 pertussis 10.3
20 kearns-sayre syndrome 10.3
21 ptosis 10.3
22 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3
23 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
24 arthrogryposis, distal, type 2b2 10.3
25 scoliosis 10.3
26 synostosis 10.3
27 oligohydramnios 10.3
28 vaccinia 10.2
29 b-cell lymphoma 10.2
30 hypotrichosis and recurrent skin vesicles 10.2
31 alzheimer disease 10.1
32 prostatic hypertrophy 10.1
33 allergic hypersensitivity disease 10.1
34 hemangioma 10.1
35 epicanthus 10.1
36 strabismus 10.1
37 astigmatism 10.1
38 keratoconus 10.1
39 mechanical strabismus 10.1
40 pheochromocytoma 10.0
41 triiodothyronine receptor auxiliary protein 10.0
42 pulmonary hypertension, primary, 3 10.0
43 adrenal gland pheochromocytoma 10.0
44 lymphoma 10.0
45 neutropenia 10.0
46 insulin-like growth factor i 10.0
47 helix syndrome 10.0
48 hand, foot and mouth disease 10.0
49 cholera 10.0
50 bronchiolitis 10.0

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 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
8 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 abnormality of the hip bone 58 31 frequent (33%) Frequent (79-30%) HP:0003272
11 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
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 narrow mouth 31 HP:0000160
24 talipes equinovarus 31 HP:0001762
25 downslanted palpebral fissures 31 HP:0000494
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 distal arthrogryposis 31 HP:0005684
33 prominent nasolabial fold 31 HP:0005272
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:

56
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

Drugs & Therapeutics for Arthrogryposis, Distal, Type 2b1

Drugs for Arthrogryposis, Distal, Type 2b1 (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 Neurotransmitter Agents
3 Anti-Arrhythmia Agents
4 Vasodilator Agents
5 Analgesics

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

Search 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
Skin, Eye, Bone, Skeletal Muscle

Publications for Arthrogryposis, Distal, Type 2b1

Articles related to Arthrogryposis, Distal, Type 2b1:

(show all 32)
# 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. 6 56
23850728 2013
2
A TNNI2 mutation in a family with distal arthrogryposis type 2B. 56 6
16497570 2006
3
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. 56 6
12592607 2003
4
Arthrogryposis: a review and update. 56
19571066 2009
5
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. 56
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. 56
16802141 2006
8
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. 56
16924011 2006
9
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). 56
9508073 1998
10
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. 56
9012416 1997
11
A revised and extended classification of the distal arthrogryposes. 56
8923935 1996
12
Dominant distal arthrogryposis in a Maori family with marked variability of expression. 56
7762579 1995
13
Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II? 56
2764034 1989
14
Distal arthrogryposis type II: a family with varying congenital abnormalities. 56
3717209 1986
15
An unusual distal arthrogryposis. 56
3993671 1985
16
The distal arthrogryposes: delineation of new entities--review and nosologic discussion. 56
7039311 1982
17
Cranio-carpo-tarsal dystrophy. 56
21032118 1938
18
Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome. 61
32149971 2020
19
Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila. 61
30826400 2019
20
A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B). 61
29625835 2018
21
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions. 61
29314551 2018
22
The clubfoot painted by Jusepe de Ribera: a controversial diagnosis. 61
26414783 2016
23
Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features. 61
26494722 2015
24
Anesthetic considerations in Sheldon-Hall syndrome. 61
24829975 2014
25
First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. 61
23678273 2013
26
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. 61
21531865 2011
27
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. 61
21402185 2011
28
Prenatal diagnosis of Sheldon Hall syndrome. 61
19488977 2009
29
Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. 61
19142688 2009
30
Sheldon-Hall syndrome. 61
19309503 2009
31
Distal arthrogryposis syndrome. 61
20300297 2008
32
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 192) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNNI2 NM_003282.4(TNNI2):c.493A>T (p.Ile165Phe)SNV Pathogenic 694070 11:1862725-1862725 11:1841495-1841495
2 TNNI2 NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln)SNV Pathogenic 12435 rs104894311 11:1862753-1862753 11:1841523-1841523
3 TNNI2 NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)SNV Pathogenic 12436 rs104894312 11:1862698-1862698 11:1841468-1841468
4 TNNI2 NM_003282.4(TNNI2):c.496_498GAG[1] (p.Glu167del)short repeat Pathogenic 12439 rs199474800 11:1862728-1862730 11:1841498-1841500
5 MYH3 NM_002470.4(MYH3):c.700G>A (p.Ala234Thr)SNV Likely pathogenic 14145 rs121913623 17:10551909-10551909 17:10648592-10648592
6 TPM2 NM_213674.1(TPM2):c.307C>A (p.Gln103Lys)SNV Likely pathogenic 692080 9:35685711-35685711 9:35685714-35685714
7 TNNI2 NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn)SNV Likely pathogenic 212411 rs797046046 11:1862757-1862757 11:1841527-1841527
8 MYH3 NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val)SNV Conflicting interpretations of pathogenicity 211555 rs34165480 17:10535839-10535839 17:10632522-10632522
9 MYH3 NM_002470.4(MYH3):c.505+12A>GSNV Conflicting interpretations of pathogenicity 889940 17:10554817-10554817 17:10651500-10651500
10 MYH3 NM_002470.4(MYH3):c.571C>T (p.Arg191Trp)SNV Conflicting interpretations of pathogenicity 889938 17:10552965-10552965 17:10649648-10649648
11 MYH3 NM_002470.4(MYH3):c.347A>G (p.Tyr116Cys)SNV Conflicting interpretations of pathogenicity 891746 17:10555738-10555738 17:10652421-10652421
12 MYH3 NM_002470.4(MYH3):c.298C>T (p.Pro100Ser)SNV Conflicting interpretations of pathogenicity 891747 17:10555787-10555787 17:10652470-10652470
13 MYH3 NM_002470.4(MYH3):c.297G>A (p.Glu99=)SNV Conflicting interpretations of pathogenicity 891748 17:10555788-10555788 17:10652471-10652471
14 MYH3 NM_002470.4(MYH3):c.3072C>G (p.Thr1024=)SNV Conflicting interpretations of pathogenicity 258678 rs139544273 17:10542645-10542645 17:10639328-10639328
15 TNNI2 NM_003282.4(TNNI2):c.333A>G (p.Pro111=)SNV Conflicting interpretations of pathogenicity 281740 rs201133081 11:1862317-1862317 11:1841087-1841087
16 TNNT3 NM_006757.4(TNNT3):c.*86C>TSNV Conflicting interpretations of pathogenicity 303981 rs200540491 11:1959808-1959808 11:1938578-1938578
17 MYH3 NM_002470.4(MYH3):c.5607G>T (p.Val1869=)SNV Conflicting interpretations of pathogenicity 321712 rs753515010 17:10533210-10533210 17:10629893-10629893
18 MYH3 NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met)SNV Conflicting interpretations of pathogenicity 321738 rs145080512 17:10541610-10541610 17:10638293-10638293
19 MYH3 NM_002470.4(MYH3):c.3139G>A (p.Val1047Ile)SNV Conflicting interpretations of pathogenicity 321742 rs542491960 17:10542470-10542470 17:10639153-10639153
20 MYH3 NM_002470.4(MYH3):c.166C>G (p.Gln56Glu)SNV Conflicting interpretations of pathogenicity 321774 rs143973840 17:10558216-10558216 17:10654899-10654899
21 MYH3 NM_002470.4(MYH3):c.19A>G (p.Met7Val)SNV Conflicting interpretations of pathogenicity 321775 rs191571748 17:10558363-10558363 17:10655046-10655046
22 MYH3 NM_002470.4(MYH3):c.5299G>A (p.Ala1767Thr)SNV Conflicting interpretations of pathogenicity 321717 rs773612935 17:10533763-10533763 17:10630446-10630446
23 MYH3 NM_002470.4(MYH3):c.5161-13C>TSNV Conflicting interpretations of pathogenicity 321720 rs201674457 17:10535066-10535066 17:10631749-10631749
24 MYH3 NM_002470.4(MYH3):c.4752C>T (p.Ile1584=)SNV Conflicting interpretations of pathogenicity 886927 17:10535997-10535997 17:10632680-10632680
25 MYH3 NM_002470.4(MYH3):c.4203C>T (p.Ser1401=)SNV Conflicting interpretations of pathogenicity 885992 17:10538310-10538310 17:10634993-10634993
26 MYH3 NM_002470.4(MYH3):c.3850G>A (p.Glu1284Lys)SNV Conflicting interpretations of pathogenicity 885149 17:10541132-10541132 17:10637815-10637815
27 MYH3 NM_002470.4(MYH3):c.3718T>A (p.Ser1240Thr)SNV Conflicting interpretations of pathogenicity 886057 17:10541371-10541371 17:10638054-10638054
28 MYH3 NM_002470.4(MYH3):c.3468C>T (p.Gly1156=)SNV Conflicting interpretations of pathogenicity 885220 17:10541621-10541621 17:10638304-10638304
29 MYH3 NM_002470.4(MYH3):c.3270A>G (p.Gln1090=)SNV Conflicting interpretations of pathogenicity 887119 17:10542259-10542259 17:10638942-10638942
30 MYH3 NM_002470.4(MYH3):c.2517C>A (p.Pro839=)SNV Conflicting interpretations of pathogenicity 889125 17:10543478-10543478 17:10640161-10640161
31 MYH3 NM_002470.4(MYH3):c.1881G>A (p.Thr627=)SNV Conflicting interpretations of pathogenicity 891614 17:10545741-10545741 17:10642424-10642424
32 MYH3 NM_002470.4(MYH3):c.5301G>A (p.Ala1767=)SNV Conflicting interpretations of pathogenicity 705417 17:10533761-10533761 17:10630444-10630444
33 MYH3 NM_002470.4(MYH3):c.4810G>A (p.Ala1604Thr)SNV Conflicting interpretations of pathogenicity 704093 17:10535939-10535939 17:10632622-10632622
34 MYH3 NM_002470.4(MYH3):c.-9+1G>ASNV Conflicting interpretations of pathogenicity 587706 rs557849165 17:10559406-10559406 17:10656089-10656089
35 MYH3 NM_002470.4(MYH3):c.3993G>A (p.Ala1331=)SNV Conflicting interpretations of pathogenicity 705203 17:10538863-10538863 17:10635546-10635546
36 MYH3 NM_002470.4(MYH3):c.642+8T>CSNV Conflicting interpretations of pathogenicity 705049 17:10552886-10552886 17:10649569-10649569
37 MYH3 NM_002470.4(MYH3):c.5253C>T (p.Asn1751=)SNV Conflicting interpretations of pathogenicity 886856 17:10534961-10534961 17:10631644-10631644
38 MYH3 NM_002470.4(MYH3):c.5231A>G (p.Asp1744Gly)SNV Conflicting interpretations of pathogenicity 888128 17:10534983-10534983 17:10631666-10631666
39 MYH3 NM_002470.4(MYH3):c.5052C>G (p.Ala1684=)SNV Conflicting interpretations of pathogenicity 885006 17:10535238-10535238 17:10631921-10631921
40 MYH3 NM_002470.4(MYH3):c.4635C>T (p.Leu1545=)SNV Conflicting interpretations of pathogenicity 885069 17:10536920-10536920 17:10633603-10633603
41 MYH3 NM_002470.4(MYH3):c.*31T>GSNV Conflicting interpretations of pathogenicity 321707 rs201532275 17:10531939-10531939 17:10628622-10628622
42 MYH3 NM_002470.4(MYH3):c.5660A>G (p.Asp1887Gly)SNV Conflicting interpretations of pathogenicity 321711 rs147304568 17:10533050-10533050 17:10629733-10629733
43 MYH3 NM_002470.4(MYH3):c.3535C>G (p.Leu1179Val)SNV Conflicting interpretations of pathogenicity 321736 rs375904355 17:10541554-10541554 17:10638237-10638237
44 MYH3 NM_002470.4(MYH3):c.3137G>A (p.Arg1046Gln)SNV Conflicting interpretations of pathogenicity 321743 rs142002449 17:10542472-10542472 17:10639155-10639155
45 MYH3 NM_002470.4(MYH3):c.2683-14C>ASNV Conflicting interpretations of pathogenicity 321746 rs202129717 17:10543133-10543133 17:10639816-10639816
46 MYH3 NM_002470.4(MYH3):c.1707G>A (p.Val569=)SNV Conflicting interpretations of pathogenicity 321756 rs371043485 17:10545915-10545915 17:10642598-10642598
47 MYH3 NM_002470.4(MYH3):c.5562+11C>TSNV Conflicting interpretations of pathogenicity 321713 rs376208076 17:10533398-10533398 17:10630081-10630081
48 MYH3 NM_002470.4(MYH3):c.3729+9C>TSNV Conflicting interpretations of pathogenicity 321732 rs201955505 17:10541351-10541351 17:10638034-10638034
49 MYH3 NM_002470.4(MYH3):c.4238C>T (p.Ala1413Val)SNV Conflicting interpretations of pathogenicity 321726 rs757083529 17:10538275-10538275 17:10634958-10634958
50 MYH3 NM_002470.4(MYH3):c.1888+10G>ASNV Conflicting interpretations of pathogenicity 321754 rs759205757 17:10545724-10545724 17:10642407-10642407

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 cardiac muscle contraction GO:0060048 9.4 TNNT3 TNNI2
2 sarcomere organization GO:0045214 9.37 TNNT3 MYH3
3 muscle contraction GO:0006936 9.33 TPM2 TNNT3 TNNI2
4 regulation of muscle contraction GO:0006937 9.32 TNNT3 TNNI2
5 regulation of ATPase activity GO:0043462 9.26 TPM2 TNNT3
6 skeletal muscle contraction GO:0003009 9.13 TNNT3 TNNI2 MYH3
7 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
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