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 57
Congenital Contractural Arachnodactyly 76 24 53 25 59 75 37 29 6
Beals Syndrome 57 76 24 53 25 59 75
Beals-Hecht Syndrome 24 53 25 59
Cca 57 53 25 75
Contractural Arachnodactyly, Congenital 57 25 13
Da9 57 25 75
Distal Arthrogryposis Type 9 53 59
Ear Anomalies-Contractures-Dysplasia of Bone with Kyphoscoliosis 53
Contractural Arachnodactyly, Congenital; Cca 57
Contractures, Multiple with Arachnodactyly 53
Arachnodactyly, Contractural Beals Type 53
Arthrogryposis, Distal, Type 9 ) 40
Arthrogyroposis, Distal, Type 9 25
Distal Arthrogyropsis Type 9 25
Arthrogryposis, Distal, 9 75
Cca Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
congenital contractural arachnodactyly
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
arthrogryposis, distal, type 9:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is complete...

Classifications:



Summaries for Arthrogryposis, Distal, Type 9

Genetics Home Reference : 25 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 bone, heart and eye, and related phenotypes are high palate and joint stiffness

NIH Rare Diseases : 53 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 : 57 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 : 75 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 : 76 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 4 Arthrogryposis, Distal, Type 1b
Arthrogryposis, Distal, Type 5d

Diseases related to Arthrogryposis, Distal, Type 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 bile duct cancer 11.7
2 marfan syndrome 11.5
3 cholangiocarcinoma 11.4
4 arthrogryposis, distal, type 7 11.4
5 klatskin's tumor 11.1
6 schistosomiasis 10.4
7 intestinal schistosomiasis 10.3
8 isolated ectopia lentis 10.3
9 muscular atrophy 10.3
10 whiplash 10.2
11 urinary schistosomiasis 10.1
12 intrahepatic cholangiocarcinoma 10.1
13 protrusio acetabuli 10.1
14 autism 10.1
15 alacrima, achalasia, and mental retardation syndrome 10.1
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
17 dilated cardiomyopathy 10.1
18 keratoconus 10.1
19 brachydactyly 10.1
20 sensorineural hearing loss 10.1
21 heart disease 10.1
22 homocystinuria 10.1
23 nontuberculous mycobacterial lung disease 10.1
24 van den ende-gupta syndrome 9.9
25 loeys-dietz syndrome 9.9
26 scoliosis 9.9
27 blepharophimosis 9.9
28 hypospadias 9.9
29 myopathy 9.9
30 coloboma of iris 9.9
31 infantile scoliosis 9.9
32 diabetes mellitus, noninsulin-dependent 9.9
33 corpus callosum, agenesis of 9.9
34 maturity-onset diabetes of the young 9.9
35 carotid intimal medial thickness 2 9.9
36 choanal atresia, posterior 9.9
37 diabetes mellitus 9.9
38 hepatitis 9.9
39 carotid stenosis 9.9
40 clear cell acanthoma 9.9
41 acanthoma 9.9
42 hepatitis c 9.9
43 adenocarcinoma 9.9
44 lipid metabolism disorder 9.9
45 embryonal rhabdomyosarcoma 9.9
46 rhabdomyosarcoma 9.9
47 clear cell adenocarcinoma 9.9
48 connective tissue disease 9.9
49 extracranial carotid artery aneurysm 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

Symptoms via clinical synopsis from OMIM:

57
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 regurgitation
mitral valve prolapse
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
ulnar deviation of fingers
adducted thumbs
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

Human phenotypes related to Arthrogryposis, Distal, Type 9:

59 32 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
2 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
3 arthrogryposis multiplex congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0002804
4 arachnodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001166
5 disproportionate tall stature 59 32 frequent (33%) Frequent (79-30%) HP:0001519
6 slender build 59 32 hallmark (90%) Very frequent (99-80%) HP:0001533
7 ectopia lentis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001083
8 mitral valve prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0001634
9 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002566
10 tracheoesophageal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0002575
11 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
12 duodenal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002247
13 congenital kyphoscoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008453
14 abnormally folded helix 59 32 hallmark (90%) Very frequent (99-80%) HP:0008544
15 crumpled ear 59 32 very rare (1%) Very frequent (99-80%) HP:0009901
16 short neck 32 HP:0000470
17 frontal bossing 32 HP:0002007
18 osteopenia 32 HP:0000938
19 scoliosis 59 Very frequent (99-80%)
20 pectus carinatum 32 HP:0000768
21 flexion contracture 59 Very frequent (99-80%)
22 brachycephaly 32 HP:0000248
23 micrognathia 32 very rare (1%) HP:0000347
24 malformation of the heart and great vessels 59 Occasional (29-5%)
25 patent ductus arteriosus 32 HP:0001643
26 dolichocephaly 32 HP:0000268
27 metatarsus adductus 32 HP:0001840
28 myopia 32 HP:0000545
29 atrial septal defect 32 HP:0001631
30 bicuspid aortic valve 32 HP:0001647
31 elbow flexion contracture 32 very rare (1%) HP:0002987
32 aortic dilatation 59 Occasional (29-5%)
33 motor delay 32 HP:0001270
34 talipes equinovarus 32 very rare (1%) HP:0001762
35 mitral regurgitation 32 HP:0001653
36 abnormality of the musculature 59 Very frequent (99-80%)
37 ventricular septal defect 32 HP:0001629
38 patellar dislocation 32 HP:0002999
39 adducted thumb 32 HP:0001181
40 ulnar deviation of finger 32 HP:0009465
41 hip contracture 32 very rare (1%) HP:0003273
42 kyphoscoliosis 32 very rare (1%) HP:0002751
43 knee flexion contracture 32 very rare (1%) HP:0006380
44 congenital contracture 59 Very frequent (99-80%)
45 aortic aneurysm 32 occasional (7.5%) HP:0004942
46 scaphocephaly 32 HP:0030799
47 patellar subluxation 32 HP:0010499
48 aortic root aneurysm 32 HP:0002616
49 distal arthrogryposis 32 HP:0005684
50 calf muscle hypoplasia 32 HP:0008962

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 29 FBN2

Anatomical Context for Arthrogryposis, Distal, Type 9

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

41
Bone, Heart, Eye, Lung

Publications for Arthrogryposis, Distal, Type 9

Articles related to Arthrogryposis, Distal, Type 9:

(show top 50) (show all 81)
# 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
The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy. ( 27393415 )
2016
7
Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly. ( 27912749 )
2016
8
Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report. ( 25493702 )
2015
9
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly. ( 25834781 )
2015
10
Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. ( 25975422 )
2015
11
Congenital Contractural Arachnodactyly without FBN1 or FBN2 Gene Mutations Complicated by Dilated Cardiomyopathy. ( 25986263 )
2015
12
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis. ( 24585410 )
2014
13
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene. ( 27625873 )
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
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. ( 19473076 )
2009
17
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. ( 19006240 )
2009
18
[Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases]. ( 18646717 )
2008
19
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. ( 17345643 )
2007
20
New finding of protrusio acetabuli in two families with congenital contractural arachnodactyly. A report of seven cases. ( 17403810 )
2007
21
Myopathy, noncompaction, and the Takotsubo phenomenon in congenital contractural arachnodactyly (Beals syndrome). ( 17520759 )
2007
22
Congenital contractural arachnodactyly (Beals syndrome). ( 16740166 )
2006
23
Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. ( 16531736 )
2006
24
Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome). ( 17106180 )
2006
25
[Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]. ( 15912465 )
2005
26
Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: an unusual association. ( 16440887 )
2005
27
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 15646904 )
2004
28
Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence? ( 15017482 )
2004
29
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. ( 15121784 )
2004
30
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 14649616 )
2003
31
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. ( 12383326 )
2002
32
Congenital contractural arachnodactyly (Beals syndrome): first case report with hypospadias. ( 12522281 )
2002
33
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. ( 11754102 )
2002
34
Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report. ( 11400038 )
2001
35
The metacarpophalangeal profile in a family with congenital contractural arachnodactyly. ( 10756430 )
2000
36
Congenital contractural arachnodactyly (Beals syndrome). ( 10927940 )
2000
37
Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. ( 10797416 )
2000
38
Increased urinary excretion of pyridinoline and deoxypyridinoline in a girl with congenital contractural arachnodactyly. ( 11517966 )
1998
39
A single mutation that results in an Asp-to-His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. ( 9737771 )
1998
40
Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. ( 9605585 )
1998
41
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
42
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. ( 9199560 )
1997
43
Prenatal diagnosis in congenital contractural arachnodactyly. ( 10464661 )
1997
44
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. ( 8900230 )
1996
45
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. ( 7493032 )
1995
46
Congenital contractural arachnodactyly. ( 8617541 )
1995
47
Congenital contractural arachnodactyly (Beals syndrome). ( 7815423 )
1994
48
Congenital contractural arachnodactyly in two double second cousins: possible homozygosity. ( 8403449 )
1993
49
Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly. ( 1308360 )
1992
50
Congenital contractural arachnodactyly with unilateral lower limb deficiency. ( 1519656 )
1992

Variations for Arthrogryposis, Distal, Type 9

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

75 (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 988)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN2 NM_001999.3(FBN2): c.3777T> A (p.Asn1259Lys) single nucleotide variant Pathogenic rs267606802 GRCh37 Chromosome 5, 127671217: 127671217
2 FBN2 NM_001999.3(FBN2): c.3777T> A (p.Asn1259Lys) single nucleotide variant Pathogenic rs267606802 GRCh38 Chromosome 5, 128335525: 128335525
3 FBN2 NM_001999.3(FBN2): c.203C> T (p.Ala68Val) single nucleotide variant Benign/Likely benign rs62390671 GRCh37 Chromosome 5, 127873094: 127873094
4 FBN2 NM_001999.3(FBN2): c.203C> T (p.Ala68Val) single nucleotide variant Benign/Likely benign rs62390671 GRCh38 Chromosome 5, 128537401: 128537401
5 FBN2 NM_001999.3(FBN2): c.518C> T (p.Thr173Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147157552 GRCh38 Chromosome 5, 128527886: 128527886
6 FBN2 NM_001999.3(FBN2): c.518C> T (p.Thr173Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147157552 GRCh37 Chromosome 5, 127863579: 127863579
7 FBN2 NM_001999.3(FBN2): c.7808T> C (p.Phe2603Ser) single nucleotide variant Uncertain significance rs374507398 GRCh38 Chromosome 5, 128273872: 128273872
8 FBN2 NM_001999.3(FBN2): c.7808T> C (p.Phe2603Ser) single nucleotide variant Uncertain significance rs374507398 GRCh37 Chromosome 5, 127609564: 127609564
9 FBN2 NM_001999.3(FBN2): c.8247A> G (p.Thr2749=) single nucleotide variant Conflicting interpretations of pathogenicity rs116413101 GRCh38 Chromosome 5, 128261853: 128261853
10 FBN2 NM_001999.3(FBN2): c.8247A> G (p.Thr2749=) single nucleotide variant Conflicting interpretations of pathogenicity rs116413101 GRCh37 Chromosome 5, 127597545: 127597545
11 FBN2 NM_001999.3(FBN2): c.7205G> A (p.Arg2402His) single nucleotide variant Conflicting interpretations of pathogenicity rs148014419 GRCh37 Chromosome 5, 127614467: 127614467
12 FBN2 NM_001999.3(FBN2): c.7205G> A (p.Arg2402His) single nucleotide variant Conflicting interpretations of pathogenicity rs148014419 GRCh38 Chromosome 5, 128278775: 128278775
13 FBN2 NM_001999.3(FBN2): c.7181T> C (p.Ile2394Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28763926 GRCh38 Chromosome 5, 128278799: 128278799
14 FBN2 NM_001999.3(FBN2): c.7181T> C (p.Ile2394Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28763926 GRCh37 Chromosome 5, 127614491: 127614491
15 FBN2 NM_001999.3(FBN2): c.6551A> T (p.Asn2184Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149071226 GRCh38 Chromosome 5, 128289213: 128289213
16 FBN2 NM_001999.3(FBN2): c.6551A> T (p.Asn2184Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149071226 GRCh37 Chromosome 5, 127624905: 127624905
17 FBN2 NM_001999.3(FBN2): c.4141C> A (p.His1381Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs78727187 GRCh38 Chromosome 5, 128332993: 128332993
18 FBN2 NM_001999.3(FBN2): c.4141C> A (p.His1381Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs78727187 GRCh37 Chromosome 5, 127668685: 127668685
19 FBN2 NM_001999.3(FBN2): c.3690A> G (p.Gly1230=) single nucleotide variant Conflicting interpretations of pathogenicity rs774807410 GRCh38 Chromosome 5, 128336022: 128336022
20 FBN2 NM_001999.3(FBN2): c.3690A> G (p.Gly1230=) single nucleotide variant Conflicting interpretations of pathogenicity rs774807410 GRCh37 Chromosome 5, 127671714: 127671714
21 FBN2 NM_001999.3(FBN2): c.1040G> A (p.Arg347His) single nucleotide variant Benign/Likely benign rs112428886 GRCh38 Chromosome 5, 128408712: 128408712
22 FBN2 NM_001999.3(FBN2): c.1040G> A (p.Arg347His) single nucleotide variant Benign/Likely benign rs112428886 GRCh37 Chromosome 5, 127744405: 127744405
23 FBN2 NM_001999.3(FBN2): c.3217+13G> A single nucleotide variant Benign/Likely benign rs572013507 GRCh37 Chromosome 5, 127681036: 127681036
24 FBN2 NM_001999.3(FBN2): c.3062G> C (p.Arg1021Pro) single nucleotide variant Uncertain significance rs139620380 GRCh38 Chromosome 5, 128345512: 128345512
25 FBN2 NM_001999.3(FBN2): c.3062G> C (p.Arg1021Pro) single nucleotide variant Uncertain significance rs139620380 GRCh37 Chromosome 5, 127681204: 127681204
26 FBN2 NM_001999.3(FBN2): c.3013T> C (p.Leu1005=) single nucleotide variant Conflicting interpretations of pathogenicity rs147633551 GRCh38 Chromosome 5, 128345561: 128345561
27 FBN2 NM_001999.3(FBN2): c.3013T> C (p.Leu1005=) single nucleotide variant Conflicting interpretations of pathogenicity rs147633551 GRCh37 Chromosome 5, 127681253: 127681253
28 FBN2 NM_001999.3(FBN2): c.2990-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377500777 GRCh38 Chromosome 5, 128345598: 128345598
29 FBN2 NM_001999.3(FBN2): c.2990-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377500777 GRCh37 Chromosome 5, 127681290: 127681290
30 FBN2 NM_001999.3(FBN2): c.2801G> A (p.Arg934Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs376194507 GRCh38 Chromosome 5, 128350879: 128350879
31 FBN2 NM_001999.3(FBN2): c.2801G> A (p.Arg934Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs376194507 GRCh37 Chromosome 5, 127686571: 127686571
32 FBN2 NM_001999.3(FBN2): c.2625T> C (p.Cys875=) single nucleotide variant Conflicting interpretations of pathogenicity rs371502563 GRCh38 Chromosome 5, 128357325: 128357325
33 FBN2 NM_001999.3(FBN2): c.2625T> C (p.Cys875=) single nucleotide variant Conflicting interpretations of pathogenicity rs371502563 GRCh37 Chromosome 5, 127693017: 127693017
34 FBN2 NM_001999.3(FBN2): c.2536G> A (p.Glu846Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs375666281 GRCh38 Chromosome 5, 128361741: 128361741
35 FBN2 NM_001999.3(FBN2): c.2536G> A (p.Glu846Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs375666281 GRCh37 Chromosome 5, 127697434: 127697434
36 FBN2 NM_001999.3(FBN2): c.2480G> A (p.Arg827Gln) single nucleotide variant Uncertain significance rs150735582 GRCh38 Chromosome 5, 128361797: 128361797
37 FBN2 NM_001999.3(FBN2): c.2480G> A (p.Arg827Gln) single nucleotide variant Uncertain significance rs150735582 GRCh37 Chromosome 5, 127697490: 127697490
38 FBN2 NM_001999.3(FBN2): c.2260G> A (p.Gly754Ser) single nucleotide variant Likely benign rs145259927 GRCh38 Chromosome 5, 128366419: 128366419
39 FBN2 NM_001999.3(FBN2): c.2260G> A (p.Gly754Ser) single nucleotide variant Likely benign rs145259927 GRCh37 Chromosome 5, 127702112: 127702112
40 FBN2 NM_001999.3(FBN2): c.2042G> A (p.Arg681His) single nucleotide variant Conflicting interpretations of pathogenicity rs548605398 GRCh38 Chromosome 5, 128374681: 128374681
41 FBN2 NM_001999.3(FBN2): c.2042G> A (p.Arg681His) single nucleotide variant Conflicting interpretations of pathogenicity rs548605398 GRCh37 Chromosome 5, 127710374: 127710374
42 FBN2 NM_001999.3(FBN2): c.1813G> A (p.Gly605Ser) single nucleotide variant Uncertain significance rs863223553 GRCh38 Chromosome 5, 128377788: 128377788
43 FBN2 NM_001999.3(FBN2): c.1813G> A (p.Gly605Ser) single nucleotide variant Uncertain significance rs863223553 GRCh37 Chromosome 5, 127713481: 127713481
44 FBN2 NM_001999.3(FBN2): c.1749G> A (p.Gly583=) single nucleotide variant Benign/Likely benign rs75940000 GRCh38 Chromosome 5, 128377852: 128377852
45 FBN2 NM_001999.3(FBN2): c.1749G> A (p.Gly583=) single nucleotide variant Benign/Likely benign rs75940000 GRCh37 Chromosome 5, 127713545: 127713545
46 FBN2 NM_001999.3(FBN2): c.1644T> G (p.Asp548Glu) single nucleotide variant Uncertain significance rs182651973 GRCh38 Chromosome 5, 128378850: 128378850
47 FBN2 NM_001999.3(FBN2): c.1644T> G (p.Asp548Glu) single nucleotide variant Uncertain significance rs182651973 GRCh37 Chromosome 5, 127714543: 127714543
48 FBN2 NM_001999.3(FBN2): c.1592G> C (p.Gly531Ala) single nucleotide variant Likely benign rs34450503 GRCh38 Chromosome 5, 128392029: 128392029
49 FBN2 NM_001999.3(FBN2): c.1592G> C (p.Gly531Ala) single nucleotide variant Likely benign rs34450503 GRCh37 Chromosome 5, 127727722: 127727722
50 FBN2 NM_001999.3(FBN2): c.1543T> A (p.Ser515Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs528255772 GRCh38 Chromosome 5, 128392078: 128392078

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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