DA9
MCID: ART146
MIFTS: 42

Arthrogryposis, Distal, Type 9 (DA9)

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 9

MalaCards integrated aliases for Arthrogryposis, Distal, Type 9:

Name: Arthrogryposis, Distal, Type 9 58
Congenital Contractural Arachnodactyly 77 25 54 26 60 76 38 30 6
Beals Syndrome 58 77 25 54 26 60 76
Beals-Hecht Syndrome 25 54 26 60
Cca 58 54 26 76
Contractural Arachnodactyly, Congenital 58 26 13
Da9 58 26 76
Distal Arthrogryposis Type 9 54 60
Ear Anomalies-Contractures-Dysplasia of Bone with Kyphoscoliosis 54
Contractural Arachnodactyly, Congenital; Cca 58
Contractures, Multiple with Arachnodactyly 54
Arachnodactyly, Contractural Beals Type 54
Arthrogryposis, Distal, Type 9 ) 41
Arthrogyroposis, Distal, Type 9 26
Distal Arthrogyropsis Type 9 26
Arthrogryposis, Distal, 9 76
Cca Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
congenital contractural arachnodactyly
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
arthrogryposis, distal, type 9:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is complete...

Classifications:



Summaries for Arthrogryposis, Distal, Type 9

Genetics Home Reference : 26 Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, a rounded upper back that also curves to the side (kyphoscoliosis), permanently bent fingers and toes (camptodactyly), ears that look "crumpled," and a protruding chest (pectus carinatum). Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse). The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened.

MalaCards based summary : Arthrogryposis, Distal, Type 9, also known as congenital contractural arachnodactyly, is related to bile duct cancer and marfan syndrome. An important gene associated with Arthrogryposis, Distal, Type 9 is FBN2 (Fibrillin 2). Affiliated tissues include heart, bone and lung, and related phenotypes are high palate and joint stiffness

NIH Rare Diseases : 54 Congenital contractural arachnodactyly (CCA) is a genetic disorder that is characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ears; and curvature of the spine (kyphoscoliosis). Enlargement (dilation) of the aorta and other features might also be present in some affected people. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern. CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene. Treatment includes physical therapy or surgery for joint contractures, bracing and/or surgery for kyphoscoliosis, and standard management of aortic root dilation.

OMIM : 58 Congenital contractural arachnodactyly is a rare, autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears (Hecht and Beals, 1972). It shares overlapping features with Marfan syndrome (154700), which is caused by mutation in the gene encoding fibrillin-1 (FBN1; 134797). (121050)

UniProtKB/Swiss-Prot : 76 Arthrogryposis, distal, 9: 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. DA9 is a connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears.

Wikipedia : 77 Congenital Contractural Arachnodactyly (CCA, Beals syndrome) is a rare congenital connective tissue... more...

GeneReviews: NBK1386

Related Diseases for Arthrogryposis, Distal, Type 9

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 9 Arthrogryposis, Distal, Type 2e
Arthrogryposis, Distal, Type 7 Arthrogryposis, Distal, Type 8
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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 bile duct cancer 11.7
2 marfan syndrome 11.6
3 cholangiocarcinoma 11.5
4 arthrogryposis, distal, type 7 11.5
5 klatskin's tumor 11.1
6 schistosomiasis 10.5
7 aural atresia, congenital 10.3
8 intestinal schistosomiasis 10.3
9 intrahepatic cholangiocarcinoma 10.3
10 isolated ectopia lentis 10.3
11 muscular atrophy 10.3
12 whiplash 10.2
13 arthrogryposis, distal, type 6 10.2
14 urinary schistosomiasis 10.1
15 protrusio acetabuli 10.1
16 alacrima, achalasia, and mental retardation syndrome 10.1
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
18 dilated cardiomyopathy 10.1
19 keratoconus 10.1
20 brachydactyly 10.1
21 sensorineural hearing loss 10.1
22 heart disease 10.1
23 homocystinuria 10.1
24 nontuberculous mycobacterial lung disease 10.1
25 clear cell acanthoma 10.1
26 acanthoma 10.1
27 coloboma of macula 9.9
28 van den ende-gupta syndrome 9.9
29 muscle disorders 9.9
30 loeys-dietz syndrome 9.9
31 scoliosis 9.9
32 blepharophimosis 9.9
33 hypospadias 9.9
34 myopathy 9.9
35 coloboma of iris 9.9
36 encephalocele 9.9
37 infantile scoliosis 9.9
38 autoimmune disease 9.9
39 frasier syndrome 9.9
40 pelger-huet anomaly 9.9
41 autism 9.9
42 corpus callosum, agenesis of 9.9
43 maturity-onset diabetes of the young 9.9
44 carotid intimal medial thickness 2 9.9
45 choanal atresia, posterior 9.9
46 antithrombin iii deficiency 9.9
47 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 9.9
48 diabetes mellitus 9.9
49 hepatitis 9.9
50 autism spectrum disorder 9.9

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 9:



Diseases related to Arthrogryposis, Distal, Type 9

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 9

Human phenotypes related to Arthrogryposis, Distal, Type 9:

60 33 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000218
2 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
3 arthrogryposis multiplex congenita 60 33 hallmark (90%) Very frequent (99-80%) HP:0002804
4 arachnodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001166
5 slender build 60 33 hallmark (90%) Very frequent (99-80%) HP:0001533
6 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
7 congenital kyphoscoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008453
8 abnormally folded helix 60 33 hallmark (90%) Very frequent (99-80%) HP:0008544
9 crumpled ear 60 33 very rare (1%) Very frequent (99-80%) HP:0009901
10 disproportionate tall stature 60 33 frequent (33%) Frequent (79-30%) HP:0001519
11 mitral valve prolapse 60 33 occasional (7.5%) Occasional (29-5%) HP:0001634
12 ectopia lentis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001083
13 intestinal malrotation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002566
14 tracheoesophageal fistula 60 33 occasional (7.5%) Occasional (29-5%) HP:0002575
15 duodenal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002247
16 aortic aneurysm 33 occasional (7.5%) HP:0004942
17 micrognathia 33 very rare (1%) HP:0000347
18 elbow flexion contracture 33 very rare (1%) HP:0002987
19 talipes equinovarus 33 very rare (1%) HP:0001762
20 kyphoscoliosis 33 very rare (1%) HP:0002751
21 hip contracture 33 very rare (1%) HP:0003273
22 knee flexion contracture 33 very rare (1%) HP:0006380
23 short neck 33 HP:0000470
24 frontal bossing 33 HP:0002007
25 osteopenia 33 HP:0000938
26 scoliosis 60 Very frequent (99-80%)
27 pectus carinatum 33 HP:0000768
28 flexion contracture 60 Very frequent (99-80%)
29 brachycephaly 33 HP:0000248
30 malformation of the heart and great vessels 60 Occasional (29-5%)
31 patent ductus arteriosus 33 HP:0001643
32 dolichocephaly 33 HP:0000268
33 metatarsus adductus 33 HP:0001840
34 myopia 33 HP:0000545
35 atrial septal defect 33 HP:0001631
36 bicuspid aortic valve 33 HP:0001647
37 aortic dilatation 60 Occasional (29-5%)
38 motor delay 33 HP:0001270
39 mitral regurgitation 33 HP:0001653
40 abnormality of the musculature 60 Very frequent (99-80%)
41 ventricular septal defect 33 HP:0001629
42 patellar dislocation 33 HP:0002999
43 adducted thumb 33 HP:0001181
44 ulnar deviation of finger 33 HP:0009465
45 congenital contracture 60 Very frequent (99-80%)
46 patellar subluxation 33 HP:0010499
47 calf muscle hypoplasia 33 HP:0008962
48 scaphocephaly 33 HP:0030799
49 aortic root aneurysm 33 HP:0002616
50 distal arthrogryposis 33 HP:0005684

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
micrognathia (27%)

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Cardiovascular Vascular:
patent ductus arteriosus
aortic root dilatation

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
mitral valve prolapse
mitral regurgitation
ventricular septal defect

Growth Other:
marfanoid habitus
dolichostenomelia

Head And Neck Mouth:
high-arched palate (28%)

Skeletal Spine:
congenital kyphoscoliosis (45%)

Skeletal Limbs:
elbow contractures (86%)
knee contractures (81%)
subluxation of patella

Muscle Soft Tissue:
hypoplastic calf muscles

Skeletal:
osteopenia

Head And Neck Head:
brachycephaly
dolichocephaly
scaphocephaly

Head And Neck Eyes:
myopia
ectopia lentis

Skeletal Hands:
arachnodactyly
camptodactyly
adducted thumbs
ulnar deviation of fingers
flexion contractures of proximal interphalangeal joints

Head And Neck Ears:
crumpled ear (76%)
poorly defined conchae
prominent crura
folded helices

Head And Neck Neck:
relatively short neck

Skeletal Pelvis:
hip contractures (25%)

Skeletal Feet:
metatarsus varus
talipes equinovarus (32%)

Neurologic Central Nervous System:
motor developmental delay

Clinical features from OMIM:

121050

Drugs & Therapeutics for Arthrogryposis, Distal, Type 9

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697

Search NIH Clinical Center for Arthrogryposis, Distal, Type 9

Genetic Tests for Arthrogryposis, Distal, Type 9

Genetic tests related to Arthrogryposis, Distal, Type 9:

# Genetic test Affiliating Genes
1 Congenital Contractural Arachnodactyly 30 FBN2

Anatomical Context for Arthrogryposis, Distal, Type 9

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 9:

42
Heart, Bone, Lung, Eye, B Cells, Kidney

Publications for Arthrogryposis, Distal, Type 9

Articles related to Arthrogryposis, Distal, Type 9:

(show top 50) (show all 85)
# Title Authors Year
1
A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly. ( 29864108 )
2018
2
A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five-generation Chinese family. ( 30147916 )
2018
3
Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly. ( 28379158 )
2017
4
Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly. ( 28762477 )
2017
5
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. ( 27196565 )
2016
6
Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly. ( 27912749 )
2016
7
The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy. ( 27393415 )
2016
8
Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. ( 25975422 )
2015
9
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly. ( 25834781 )
2015
10
Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report. ( 25493702 )
2015
11
Congenital Contractural Arachnodactyly without FBN1 or FBN2 Gene Mutations Complicated by Dilated Cardiomyopathy. ( 25986263 )
2015
12
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene. ( 27625873 )
2014
13
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis. ( 24585410 )
2014
14
Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder. ( 23595522 )
2013
15
Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly. ( 22325249 )
2012
16
Evaluation of the adolescent or adult with some features of Marfan syndrome. ( 22237449 )
2012
17
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. ( 20799338 )
2010
18
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. ( 19473076 )
2009
19
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. ( 19006240 )
2009
20
[Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases]. ( 18646717 )
2008
21
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. ( 17345643 )
2007
22
New finding of protrusio acetabuli in two families with congenital contractural arachnodactyly. A report of seven cases. ( 17403810 )
2007
23
Myopathy, noncompaction, and the Takotsubo phenomenon in congenital contractural arachnodactyly (Beals syndrome). ( 17520759 )
2007
24
Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome). ( 17106180 )
2006
25
Congenital contractural arachnodactyly (Beals syndrome). ( 16740166 )
2006
26
Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. ( 16531736 )
2006
27
Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: an unusual association. ( 16440887 )
2005
28
[Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]. ( 15912465 )
2005
29
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 15646904 )
2004
30
Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence? ( 15017482 )
2004
31
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. ( 15121784 )
2004
32
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 14649616 )
2003
33
Congenital contractural arachnodactyly (Beals syndrome): first case report with hypospadias. ( 12522281 )
2002
34
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. ( 12383326 )
2002
35
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. ( 11754102 )
2002
36
Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report. ( 11400038 )
2001
37
Congenital contractural arachnodactyly (Beals syndrome). ( 10927940 )
2000
38
Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. ( 10797416 )
2000
39
The metacarpophalangeal profile in a family with congenital contractural arachnodactyly. ( 10756430 )
2000
40
Increased urinary excretion of pyridinoline and deoxypyridinoline in a girl with congenital contractural arachnodactyly. ( 11517966 )
1998
41
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. ( 9737771 )
1998
42
Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. ( 9714438 )
1998
43
Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. ( 9605585 )
1998
44
Prenatal diagnosis in congenital contractural arachnodactyly. ( 10464661 )
1997
45
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. ( 9199560 )
1997
46
Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. ( 9106527 )
1997
47
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. ( 8900230 )
1996
48
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. ( 7493032 )
1995
49
Congenital contractural arachnodactyly. ( 8617541 )
1995
50
Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. ( 7633409 )
1995

Variations for Arthrogryposis, Distal, Type 9

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 9:

76 (show all 28)
# Symbol AA change Variation ID SNP ID
1 FBN2 p.Cys1253Tyr VAR_002350 rs137852825
2 FBN2 p.Cys1434Ser VAR_002351
3 FBN2 p.Asp1115His VAR_010739 rs137852827
4 FBN2 p.Cys1142Phe VAR_010740 rs137852828
5 FBN2 p.Cys1253Trp VAR_010741 rs28931602
6 FBN2 p.Glu391Lys VAR_015851 rs137852826
7 FBN2 p.Gly1057Asp VAR_054981
8 FBN2 p.Ile1093Thr VAR_054982
9 FBN2 p.Gly1179Cys VAR_054983
10 FBN2 p.Cys1198Tyr VAR_054984 rs863223567
11 FBN2 p.Cys1240Arg VAR_054985
12 FBN2 p.Cys1257Trp VAR_054986
13 FBN2 p.Cys1268Arg VAR_054987
14 FBN2 p.Gly754Ser VAR_058364 rs145259927
15 FBN2 p.Asn1091Ser VAR_058365
16 FBN2 p.Ser1122Pro VAR_058366
17 FBN2 p.Cys1142Arg VAR_058367
18 FBN2 p.Tyr1146Cys VAR_058368
19 FBN2 p.Cys1156Phe VAR_058369 rs120684372
20 FBN2 p.Glu1161Lys VAR_058370
21 FBN2 p.Cys1246Phe VAR_058371
22 FBN2 p.Cys1384Phe VAR_058372
23 FBN2 p.Cys1384Tyr VAR_058373 rs794727560
24 FBN2 p.Asp1408Asn VAR_058374
25 FBN2 p.Cys1425Arg VAR_058375
26 FBN2 p.Asn1259Lys VAR_072653 rs267606802
27 FBN2 p.Cys1406Arg VAR_074052
28 FBN2 p.Cys1257Arg VAR_076482

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 9:

6 (show top 50) (show all 1000)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN2 NM_001999.3(FBN2): c.3758G> A (p.Cys1253Tyr) single nucleotide variant Pathogenic rs137852825 GRCh37 Chromosome 5, 127671236: 127671236
2 FBN2 NM_001999.3(FBN2): c.2508G> A (p.Thr836=) single nucleotide variant Conflicting interpretations of pathogenicity rs372872626 GRCh38 Chromosome 5, 128361769: 128361769
3 FBN2 NM_001999.3(FBN2): c.2508G> A (p.Thr836=) single nucleotide variant Conflicting interpretations of pathogenicity rs372872626 GRCh37 Chromosome 5, 127697462: 127697462
4 FBN2 NM_001999.3(FBN2): c.2555-7A> G single nucleotide variant Benign/Likely benign rs28763949 GRCh38 Chromosome 5, 128357402: 128357402
5 FBN2 NM_001999.3(FBN2): c.2555-7A> G single nucleotide variant Benign/Likely benign rs28763949 GRCh37 Chromosome 5, 127693094: 127693094
6 FBN2 NM_001999.3(FBN2): c.2940C> T (p.Cys980=) single nucleotide variant Benign/Likely benign rs143255082 GRCh38 Chromosome 5, 128349396: 128349396
7 FBN2 NM_001999.3(FBN2): c.2940C> T (p.Cys980=) single nucleotide variant Benign/Likely benign rs143255082 GRCh37 Chromosome 5, 127685088: 127685088
8 FBN2 NM_001999.3(FBN2): c.3166G> T (p.Ala1056Ser) single nucleotide variant Benign/Likely benign rs28763945 GRCh38 Chromosome 5, 128345408: 128345408
9 FBN2 NM_001999.3(FBN2): c.3166G> T (p.Ala1056Ser) single nucleotide variant Benign/Likely benign rs28763945 GRCh37 Chromosome 5, 127681100: 127681100
10 FBN2 NM_001999.3(FBN2): c.3762C> T (p.Asp1254=) single nucleotide variant Benign/Likely benign rs2279582 GRCh38 Chromosome 5, 128335540: 128335540
11 FBN2 NM_001999.3(FBN2): c.4647C> T (p.Asn1549=) single nucleotide variant Benign/Likely benign rs146662880 GRCh38 Chromosome 5, 128318219: 128318219
12 FBN2 NM_001999.3(FBN2): c.4647C> T (p.Asn1549=) single nucleotide variant Benign/Likely benign rs146662880 GRCh37 Chromosome 5, 127653911: 127653911
13 FBN2 NM_001999.3(FBN2): c.8049G> A (p.Gly2683=) single nucleotide variant Benign/Likely benign rs138044126 GRCh37 Chromosome 5, 127599260: 127599260
14 FBN2 NM_001999.3(FBN2): c.8304C> T (p.Asn2768=) single nucleotide variant Benign/Likely benign rs28763920 GRCh38 Chromosome 5, 128261796: 128261796
15 FBN2 NM_001999.3(FBN2): c.8304C> T (p.Asn2768=) single nucleotide variant Benign/Likely benign rs28763920 GRCh37 Chromosome 5, 127597488: 127597488
16 FBN2 NM_001999.3(FBN2): c.8364+7A> T single nucleotide variant Benign/Likely benign rs185052980 GRCh38 Chromosome 5, 128261729: 128261729
17 FBN2 NM_001999.3(FBN2): c.8364+7A> T single nucleotide variant Benign/Likely benign rs185052980 GRCh37 Chromosome 5, 127597421: 127597421
18 FBN2 NM_001999.3(FBN2): c.8733C> G (p.Leu2911=) single nucleotide variant Benign/Likely benign rs34383505 GRCh38 Chromosome 5, 128259461: 128259461
19 FBN2 NM_001999.3(FBN2): c.8733C> G (p.Leu2911=) single nucleotide variant Benign/Likely benign rs34383505 GRCh37 Chromosome 5, 127595153: 127595153
20 FBN2 NM_001999.3(FBN2): c.8426T> C (p.Leu2809Pro) single nucleotide variant Uncertain significance rs863223591 GRCh37 Chromosome 5, 127595460: 127595460
21 FBN2 NM_001999.3(FBN2): c.8426T> C (p.Leu2809Pro) single nucleotide variant Uncertain significance rs863223591 GRCh38 Chromosome 5, 128259768: 128259768
22 FBN2 NM_001999.3(FBN2): c.8332A> C (p.Lys2778Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs371715068 GRCh37 Chromosome 5, 127597460: 127597460
23 FBN2 NM_001999.3(FBN2): c.8332A> C (p.Lys2778Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs371715068 GRCh38 Chromosome 5, 128261768: 128261768
24 FBN2 NM_001999.3(FBN2): c.8282C> T (p.Ala2761Val) single nucleotide variant Uncertain significance rs201962592 GRCh37 Chromosome 5, 127597510: 127597510
25 FBN2 NM_001999.3(FBN2): c.8282C> T (p.Ala2761Val) single nucleotide variant Uncertain significance rs201962592 GRCh38 Chromosome 5, 128261818: 128261818
26 FBN2 NM_001999.3(FBN2): c.3670C> T (p.Gln1224Ter) single nucleotide variant Uncertain significance rs863223569 GRCh38 Chromosome 5, 128336042: 128336042
27 FBN2 NM_001999.3(FBN2): c.3670C> T (p.Gln1224Ter) single nucleotide variant Uncertain significance rs863223569 GRCh37 Chromosome 5, 127671734: 127671734
28 FBN2 NM_001999.3(FBN2): c.3583C> T (p.Arg1195Cys) single nucleotide variant Uncertain significance rs757232992 GRCh38 Chromosome 5, 128338012: 128338012
29 FBN2 NM_001999.3(FBN2): c.3583C> T (p.Arg1195Cys) single nucleotide variant Uncertain significance rs757232992 GRCh37 Chromosome 5, 127673704: 127673704
30 FBN2 NM_001999.3(FBN2): c.3565C> T (p.His1189Tyr) single nucleotide variant Uncertain significance rs779690646 GRCh38 Chromosome 5, 128338030: 128338030
31 FBN2 NM_001999.3(FBN2): c.3565C> T (p.His1189Tyr) single nucleotide variant Uncertain significance rs779690646 GRCh37 Chromosome 5, 127673722: 127673722
32 FBN2 NM_001999.3(FBN2): c.3563G> A (p.Gly1188Glu) single nucleotide variant Uncertain significance rs748888503 GRCh38 Chromosome 5, 128338032: 128338032
33 FBN2 NM_001999.3(FBN2): c.3563G> A (p.Gly1188Glu) single nucleotide variant Uncertain significance rs748888503 GRCh37 Chromosome 5, 127673724: 127673724
34 FBN2 NM_001999.3(FBN2): c.3518C> G (p.Thr1173Ser) single nucleotide variant Likely benign rs199678757 GRCh38 Chromosome 5, 128338077: 128338077
35 FBN2 NM_001999.3(FBN2): c.3518C> G (p.Thr1173Ser) single nucleotide variant Likely benign rs199678757 GRCh37 Chromosome 5, 127673769: 127673769
36 FBN2 NM_001999.3(FBN2): c.3394G> A (p.Val1132Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138834515 GRCh38 Chromosome 5, 128339011: 128339011
37 FBN2 NM_001999.3(FBN2): c.3341C> T (p.Thr1114Met) single nucleotide variant Uncertain significance rs202219940 GRCh37 Chromosome 5, 127680079: 127680079
38 FBN2 NM_001999.3(FBN2): c.3296G> A (p.Arg1099His) single nucleotide variant Uncertain significance rs202050092 GRCh38 Chromosome 5, 128344432: 128344432
39 FBN2 NM_001999.3(FBN2): c.3296G> A (p.Arg1099His) single nucleotide variant Uncertain significance rs202050092 GRCh37 Chromosome 5, 127680124: 127680124
40 FBN2 NM_001999.3(FBN2): c.3253A> C (p.Thr1085Pro) single nucleotide variant Uncertain significance rs863223562 GRCh38 Chromosome 5, 128344475: 128344475
41 FBN2 NM_001999.3(FBN2): c.3253A> C (p.Thr1085Pro) single nucleotide variant Uncertain significance rs863223562 GRCh37 Chromosome 5, 127680167: 127680167
42 FBN2 NM_001999.3(FBN2): c.3980A> G (p.Asn1327Ser) single nucleotide variant Uncertain significance rs762567430 GRCh38 Chromosome 5, 128334838: 128334838
43 FBN2 NM_001999.3(FBN2): c.2901A> G (p.Pro967=) single nucleotide variant Uncertain significance rs185991527 GRCh37 Chromosome 5, 127685127: 127685127
44 FBN2 NM_001999.3(FBN2): c.2901A> G (p.Pro967=) single nucleotide variant Uncertain significance rs185991527 GRCh38 Chromosome 5, 128349435: 128349435
45 FBN2 NM_001999.3(FBN2): c.532C> T (p.Pro178Ser) single nucleotide variant Uncertain significance rs765177174 GRCh38 Chromosome 5, 128527872: 128527872
46 FBN2 NM_001999.3(FBN2): c.532C> T (p.Pro178Ser) single nucleotide variant Uncertain significance rs765177174 GRCh37 Chromosome 5, 127863565: 127863565
47 FBN2 NM_001999.3(FBN2): c.-309A> G single nucleotide variant Benign rs7732639 GRCh38 Chromosome 5, 128537912: 128537912
48 FBN2 NM_001999.3(FBN2): c.-309A> G single nucleotide variant Benign rs7732639 GRCh37 Chromosome 5, 127873605: 127873605
49 FBN2 NM_001999.3(FBN2): c.3980A> G (p.Asn1327Ser) single nucleotide variant Uncertain significance rs762567430 GRCh37 Chromosome 5, 127670530: 127670530
50 FBN2 NM_001999.3(FBN2): c.5281A> T (p.Met1761Leu) single nucleotide variant Uncertain significance rs886059897 GRCh38 Chromosome 5, 128309319: 128309319

Expression for Arthrogryposis, Distal, Type 9

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 9.

Pathways for Arthrogryposis, Distal, Type 9

GO Terms for Arthrogryposis, Distal, Type 9

Sources for Arthrogryposis, Distal, Type 9

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