DA9
MCID: ART146
MIFTS: 41

Arthrogryposis, Distal, Type 9 (DA9)

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Ear diseases, Oral diseases, Muscle 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 carcinoma and marfan syndrome. An important gene associated with Arthrogryposis, Distal, Type 9 is FBN2 (Fibrillin 2). Affiliated tissues include bone and heart, 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

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 aortic dilatation 59 Occasional (29-5%)
32 mitral regurgitation 32 HP:0001653
33 abnormality of the musculature 59 Very frequent (99-80%)
34 ventricular septal defect 32 HP:0001629
35 talipes equinovarus 32 very rare (1%) HP:0001762
36 patellar dislocation 32 HP:0002999
37 adducted thumb 32 HP:0001181
38 ulnar deviation of finger 32 HP:0009465
39 hip contracture 32 very rare (1%) HP:0003273
40 motor delay 32 HP:0001270
41 kyphoscoliosis 32 very rare (1%) HP:0002751
42 knee flexion contracture 32 very rare (1%) HP:0006380
43 congenital contracture 59 Very frequent (99-80%)
44 aortic aneurysm 32 occasional (7.5%) HP:0004942
45 elbow flexion contracture 32 very rare (1%) HP:0002987
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

Publications for Arthrogryposis, Distal, Type 9

Articles related to Arthrogryposis, Distal, Type 9:

(show top 50) (show all 75)
# Title Authors Year
1
Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly. ( 28379158 )
2017
2
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. ( 27196565 )
2016
3
Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report. ( 25493702 )
2015
4
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly. ( 25834781 )
2015
5
Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. ( 25975422 )
2015
6
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis. ( 24585410 )
2014
7
Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder. ( 23595522 )
2013
8
Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly. ( 22325249 )
2012
9
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. ( 19473076 )
2009
10
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. ( 19006240 )
2009
11
[Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases]. ( 18646717 )
2008
12
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. ( 17345643 )
2007
13
New finding of protrusio acetabuli in two families with congenital contractural arachnodactyly. A report of seven cases. ( 17403810 )
2007
14
Myopathy, noncompaction, and the Takotsubo phenomenon in congenital contractural arachnodactyly (Beals syndrome). ( 17520759 )
2007
15
Congenital contractural arachnodactyly (Beals syndrome). ( 16740166 )
2006
16
Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. ( 16531736 )
2006
17
Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome). ( 17106180 )
2006
18
[Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]. ( 15912465 )
2005
19
Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: an unusual association. ( 16440887 )
2005
20
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 15646904 )
2004
21
Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence? ( 15017482 )
2004
22
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. ( 15121784 )
2004
23
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 14649616 )
2003
24
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. ( 12383326 )
2002
25
Congenital contractural arachnodactyly (Beals syndrome): first case report with hypospadias. ( 12522281 )
2002
26
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. ( 11754102 )
2002
27
Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report. ( 11400038 )
2001
28
The metacarpophalangeal profile in a family with congenital contractural arachnodactyly. ( 10756430 )
2000
29
Congenital contractural arachnodactyly (Beals syndrome). ( 10927940 )
2000
30
Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. ( 10797416 )
2000
31
Increased urinary excretion of pyridinoline and deoxypyridinoline in a girl with congenital contractural arachnodactyly. ( 11517966 )
1998
32
A single mutation that results in an Asp-to-His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. ( 9737771 )
1998
33
Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. ( 9605585 )
1998
34
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
35
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. ( 9199560 )
1997
36
Prenatal diagnosis in congenital contractural arachnodactyly. ( 10464661 )
1997
37
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. ( 8900230 )
1996
38
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. ( 7493032 )
1995
39
Congenital contractural arachnodactyly. ( 8617541 )
1995
40
Congenital contractural arachnodactyly (Beals syndrome). ( 7815423 )
1994
41
Congenital contractural arachnodactyly in two double second cousins: possible homozygosity. ( 8403449 )
1993
42
Congenital Contractural Arachnodactyly ( 20301560 )
1993
43
Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly. ( 1308360 )
1992
44
Congenital contractural arachnodactyly with unilateral lower limb deficiency. ( 1519656 )
1992
45
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. ( 1542340 )
1992
46
Cardiac anomalies complicating congenital contractural arachnodactyly. ( 1750764 )
1991
47
Congenital contractural arachnodactyly in a black African kindred. ( 1807801 )
1991
48
[The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate]. ( 3200664 )
1988
49
Kyphoscoliosis in congenital contractural arachnodactyly. A case report. ( 3441817 )
1987
50
A severe form of congenital contractural arachnodactyly in two newborn infants. ( 3789025 )
1986

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
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 760)
# 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.3758G> A (p.Cys1253Tyr) single nucleotide variant Pathogenic rs137852825 GRCh38 Chromosome 5, 128335544: 128335544
3 FBN2 NM_001999.3(FBN2): c.1171G> A (p.Glu391Lys) single nucleotide variant Pathogenic rs137852826 GRCh37 Chromosome 5, 127730875: 127730875
4 FBN2 NM_001999.3(FBN2): c.1171G> A (p.Glu391Lys) single nucleotide variant Pathogenic rs137852826 GRCh38 Chromosome 5, 128395182: 128395182
5 FBN2 NM_001999.3(FBN2): c.4346-2A> T single nucleotide variant Pathogenic rs587776518 GRCh38 Chromosome 5, 128328823: 128328823
6 FBN2 NM_001999.3(FBN2): c.4346-2A> T single nucleotide variant Pathogenic rs587776518 GRCh37 Chromosome 5, 127664515: 127664515
7 FBN2 NM_001999.3(FBN2): c.3725-15A> G single nucleotide variant Pathogenic rs587776519 GRCh38 Chromosome 5, 128335592: 128335592
8 FBN2 NM_001999.3(FBN2): c.3725-15A> G single nucleotide variant Pathogenic rs587776519 GRCh37 Chromosome 5, 127671284: 127671284
9 FBN2 FBN2, IVS30, G-T, -26 single nucleotide variant Pathogenic
10 FBN2 NM_001999.3(FBN2): c.3343G> C (p.Asp1115His) single nucleotide variant Pathogenic rs137852827 GRCh37 Chromosome 5, 127680077: 127680077
11 FBN2 NM_001999.3(FBN2): c.3343G> C (p.Asp1115His) single nucleotide variant Pathogenic rs137852827 GRCh38 Chromosome 5, 128344385: 128344385
12 FBN2 NM_001999.3(FBN2): c.3425G> T (p.Cys1142Phe) single nucleotide variant Pathogenic rs137852828 GRCh37 Chromosome 5, 127674672: 127674672
13 FBN2 NM_001999.3(FBN2): c.3425G> T (p.Cys1142Phe) single nucleotide variant Pathogenic rs137852828 GRCh38 Chromosome 5, 128338980: 128338980
14 FBN2 NM_001999.3(FBN2): c.3759T> G (p.Cys1253Trp) single nucleotide variant Pathogenic rs28931602 GRCh37 Chromosome 5, 127671235: 127671235
15 FBN2 NM_001999.3(FBN2): c.3759T> G (p.Cys1253Trp) single nucleotide variant Pathogenic rs28931602 GRCh38 Chromosome 5, 128335543: 128335543
16 FBN2 NM_001999.3(FBN2): c.3777T> A (p.Asn1259Lys) single nucleotide variant Pathogenic rs267606802 GRCh37 Chromosome 5, 127671217: 127671217
17 FBN2 NM_001999.3(FBN2): c.3777T> A (p.Asn1259Lys) single nucleotide variant Pathogenic rs267606802 GRCh38 Chromosome 5, 128335525: 128335525
18 FBN2 NM_001999.3(FBN2): c.518C> T (p.Thr173Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147157552 GRCh38 Chromosome 5, 128527886: 128527886
19 FBN2 NM_001999.3(FBN2): c.518C> T (p.Thr173Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147157552 GRCh37 Chromosome 5, 127863579: 127863579
20 FBN2 NM_001999.3(FBN2): c.7808T> C (p.Phe2603Ser) single nucleotide variant Uncertain significance rs374507398 GRCh38 Chromosome 5, 128273872: 128273872
21 FBN2 NM_001999.3(FBN2): c.7808T> C (p.Phe2603Ser) single nucleotide variant Uncertain significance rs374507398 GRCh37 Chromosome 5, 127609564: 127609564
22 FBN2 NM_001999.3(FBN2): c.3430G> A (p.Glu1144Lys) single nucleotide variant Uncertain significance rs200060005 GRCh38 Chromosome 5, 128338975: 128338975
23 FBN2 NM_001999.3(FBN2): c.3430G> A (p.Glu1144Lys) single nucleotide variant Uncertain significance rs200060005 GRCh37 Chromosome 5, 127674667: 127674667
24 FBN2 NM_001999.3(FBN2): c.110C> A (p.Pro37Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201255083 GRCh37 Chromosome 5, 127873187: 127873187
25 FBN2 NM_001999.3(FBN2): c.110C> A (p.Pro37Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201255083 GRCh38 Chromosome 5, 128537494: 128537494
26 FBN2 NM_001999.3(FBN2): c.1365G> T (p.Gly455=) single nucleotide variant Uncertain significance rs794726987 GRCh37 Chromosome 5, 127728928: 127728928
27 FBN2 NM_001999.3(FBN2): c.1365G> T (p.Gly455=) single nucleotide variant Uncertain significance rs794726987 GRCh38 Chromosome 5, 128393235: 128393235
28 FBN2 NM_001999.3(FBN2): c.4100-9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs377002313 GRCh37 Chromosome 5, 127668735: 127668735
29 FBN2 NM_001999.3(FBN2): c.4100-9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs377002313 GRCh38 Chromosome 5, 128333043: 128333043
30 FBN2 NM_001999.3(FBN2): c.8247A> G (p.Thr2749=) single nucleotide variant Conflicting interpretations of pathogenicity rs116413101 GRCh38 Chromosome 5, 128261853: 128261853
31 FBN2 NM_001999.3(FBN2): c.8247A> G (p.Thr2749=) single nucleotide variant Conflicting interpretations of pathogenicity rs116413101 GRCh37 Chromosome 5, 127597545: 127597545
32 FBN2 NM_001999.3(FBN2): c.7205G> A (p.Arg2402His) single nucleotide variant Conflicting interpretations of pathogenicity rs148014419 GRCh37 Chromosome 5, 127614467: 127614467
33 FBN2 NM_001999.3(FBN2): c.7205G> A (p.Arg2402His) single nucleotide variant Conflicting interpretations of pathogenicity rs148014419 GRCh38 Chromosome 5, 128278775: 128278775
34 FBN2 NM_001999.3(FBN2): c.7181T> C (p.Ile2394Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28763926 GRCh38 Chromosome 5, 128278799: 128278799
35 FBN2 NM_001999.3(FBN2): c.7181T> C (p.Ile2394Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28763926 GRCh37 Chromosome 5, 127614491: 127614491
36 FBN2 NM_001999.3(FBN2): c.6551A> T (p.Asn2184Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149071226 GRCh38 Chromosome 5, 128289213: 128289213
37 FBN2 NM_001999.3(FBN2): c.6551A> T (p.Asn2184Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149071226 GRCh37 Chromosome 5, 127624905: 127624905
38 FBN2 NM_001999.3(FBN2): c.4141C> A (p.His1381Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs78727187 GRCh38 Chromosome 5, 128332993: 128332993
39 FBN2 NM_001999.3(FBN2): c.4141C> A (p.His1381Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs78727187 GRCh37 Chromosome 5, 127668685: 127668685
40 FBN2 NM_001999.3(FBN2): c.3690A> G (p.Gly1230=) single nucleotide variant Conflicting interpretations of pathogenicity rs774807410 GRCh38 Chromosome 5, 128336022: 128336022
41 FBN2 NM_001999.3(FBN2): c.3690A> G (p.Gly1230=) single nucleotide variant Conflicting interpretations of pathogenicity rs774807410 GRCh37 Chromosome 5, 127671714: 127671714
42 FBN2 NM_001999.3(FBN2): c.1040G> A (p.Arg347His) single nucleotide variant Benign/Likely benign rs112428886 GRCh38 Chromosome 5, 128408712: 128408712
43 FBN2 NM_001999.3(FBN2): c.1040G> A (p.Arg347His) single nucleotide variant Benign/Likely benign rs112428886 GRCh37 Chromosome 5, 127744405: 127744405
44 FBN2 NM_001999.3(FBN2): c.8674G> T (p.Asp2892Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs557212203 GRCh38 Chromosome 5, 128259520: 128259520
45 FBN2 NM_001999.3(FBN2): c.8674G> T (p.Asp2892Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs557212203 GRCh37 Chromosome 5, 127595212: 127595212
46 FBN2 NM_001999.3(FBN2): c.8644G> C (p.Glu2882Gln) single nucleotide variant Uncertain significance rs765693576 GRCh38 Chromosome 5, 128259550: 128259550
47 FBN2 NM_001999.3(FBN2): c.8644G> C (p.Glu2882Gln) single nucleotide variant Uncertain significance rs765693576 GRCh37 Chromosome 5, 127595242: 127595242
48 FBN2 NM_001999.3(FBN2): c.8537G> A (p.Arg2846His) single nucleotide variant Conflicting interpretations of pathogenicity rs200345491 GRCh37 Chromosome 5, 127595349: 127595349
49 FBN2 NM_001999.3(FBN2): c.8537G> A (p.Arg2846His) single nucleotide variant Conflicting interpretations of pathogenicity rs200345491 GRCh38 Chromosome 5, 128259657: 128259657
50 FBN2 NM_001999.3(FBN2): c.8426T> C (p.Leu2809Pro) single nucleotide variant Uncertain significance rs863223591 GRCh37 Chromosome 5, 127595460: 127595460

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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