CCA
MCID: CNT099
MIFTS: 43

Contractural Arachnodactyly, Congenital (CCA)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Contractural Arachnodactyly, Congenital

MalaCards integrated aliases for Contractural Arachnodactyly, Congenital:

Name: Contractural Arachnodactyly, Congenital 57 25 13
Congenital Contractural Arachnodactyly 75 24 53 25 59 74 37 29 6
Beals Syndrome 57 75 24 53 25 59 74
Beals-Hecht Syndrome 24 53 25 59
Cca 57 53 25 74
Da9 57 25 74
Arthrogryposis, Distal, Type 9 57 40
Distal Arthrogryposis Type 9 53 59
Ear Anomalies-Contractures-Dysplasia of Bone with Kyphoscoliosis 53
Contractures, Multiple with Arachnodactyly 53
Arachnodactyly, Contractural Beals Type 53
Arthrogryposis, Distal, Type 9; Da9 57
Arthrogyroposis, Distal, Type 9 25
Distal Arthrogyropsis Type 9 25
Arthrogryposis, Distal, 9 74
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
contractural arachnodactyly, congenital:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is complete.

Classifications:



External Ids:

KEGG 37 H00660
MeSH 44 D001176
MESH via Orphanet 45 C536211
ICD10 via Orphanet 34 Q68.8
UMLS via Orphanet 73 C0220668
Orphanet 59 ORPHA115
MedGen 42 C0220668

Summaries for Contractural Arachnodactyly, Congenital

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. A rare, severe form of congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form of the condition usually do not live past infancy.

MalaCards based summary : Contractural Arachnodactyly, Congenital, also known as congenital contractural arachnodactyly, is related to bile duct cancer and cholangiocarcinoma. An important gene associated with Contractural Arachnodactyly, Congenital 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)

KEGG : 37
Congenital contractural arachnodactyly (CCA) or Beals syndrome is an autosomal dominant disorder characterized by a Marfan-like appearance and arachnodactyly. Most affected individuals have 'crumpled' ears, contractures of major joints, and camptodactyly. Additional features include muscular hypoplasia and scoliosis. In contrast to Marfan syndrome, CCA does not affect the aorta or the eyes.

UniProtKB/Swiss-Prot : 74 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 : 75 Congenital contractural arachnodactyly (CCA), also known as Beals syndrome, is a rare autosomal dominant... more...

GeneReviews: NBK1386

Related Diseases for Contractural Arachnodactyly, Congenital

Diseases related to Contractural Arachnodactyly, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 bile duct cancer 11.9
2 cholangiocarcinoma 11.6
3 arthrogryposis, distal, type 7 11.6
4 klatskin's tumor 11.2
5 marden-walker syndrome 10.6
6 schistosoma mansoni infection, susceptibility/ 10.6
7 schistosomiasis 10.6
8 intestinal schistosomiasis 10.4
9 lung disease 10.4
10 intrahepatic cholangiocarcinoma 10.4
11 scoliosis 10.3
12 keratoconus 10.3
13 clubfoot 10.3
14 muscular atrophy 10.3
15 homocystinuria 10.3
16 neonatal marfan syndrome 10.3
17 neuroblastoma 1 10.2
18 whiplash 10.2
19 coloboma of macula 10.1
20 autoimmune disease 10.1
21 urinary schistosomiasis 10.1
22 ear folding 10.1
23 ectopia lentis 1, isolated, autosomal dominant 10.1
24 marfan syndrome 10.1
25 protrusio acetabuli 10.1
26 patent ductus arteriosus 1 10.1
27 alacrima, achalasia, and mental retardation syndrome 10.1
28 brachydactyly 10.1
29 stickler syndrome 10.1
30 sensorineural hearing loss 10.1
31 synostosis 10.1
32 spinal muscular atrophy 10.1
33 dilated cardiomyopathy 10.1
34 aortic disease 10.1
35 aortic valve insufficiency 10.1
36 48,xyyy 10.1
37 congenital contractures 10.1
38 nontuberculous mycobacterial lung disease 10.1
39 helix syndrome 10.0
40 central centrifugal cicatricial alopecia 10.0
41 pertussis 10.0
42 clear cell acanthoma 10.0
43 acanthoma 10.0
44 adenocarcinoma 10.0
45 lactic acidosis 10.0
46 sideroblastic anemia 10.0
47 extracranial carotid artery aneurysm 10.0
48 atrial standstill 1 10.0
49 van den ende-gupta syndrome 10.0
50 orthostatic intolerance 10.0

Graphical network of the top 20 diseases related to Contractural Arachnodactyly, Congenital:



Diseases related to Contractural Arachnodactyly, Congenital

Symptoms & Phenotypes for Contractural Arachnodactyly, Congenital

Human phenotypes related to Contractural Arachnodactyly, Congenital:

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

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 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 Contractural Arachnodactyly, Congenital

Search Clinical Trials , NIH Clinical Center for Contractural Arachnodactyly, Congenital

Genetic Tests for Contractural Arachnodactyly, Congenital

Genetic tests related to Contractural Arachnodactyly, Congenital:

# Genetic test Affiliating Genes
1 Congenital Contractural Arachnodactyly 29 FBN2

Anatomical Context for Contractural Arachnodactyly, Congenital

MalaCards organs/tissues related to Contractural Arachnodactyly, Congenital:

41
Bone, Heart, Eye, Kidney

Publications for Contractural Arachnodactyly, Congenital

Articles related to Contractural Arachnodactyly, Congenital:

(show top 50) (show all 148)
# Title Authors PMID Year
1
Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. 38 4 8 71
9106527 1997
2
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. 38 4 8 71
8900230 1996
3
Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. 38 8 71
10797416 2000
4
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. 38 8 71
7493032 1995
5
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. 38 4 8
11754102 2002
6
Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. 38 4 8
11285249 2001
7
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. 38 4 8
9714438 1998
8
Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. 4 8
8120105 1994
9
Congenital Contractural Arachnodactyly 38 71
20301560 2001
10
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. 38 71
9737771 1998
11
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. 38 71
9199560 1997
12
Congenital contractural arachnodactyly (Beals syndrome). 38 8
7815423 1994
13
Congenital contractural arachnodactyly with unilateral lower limb deficiency. 38 8
1519656 1992
14
Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly. 38 8
1308360 1992
15
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. 38 8
1852206 1991
16
Beals syndrome: clinical and molecular investigations in a kindred of Indian descent. 38 8
1674682 1991
17
Contractural arachnodactyly with mitral regurgitation and iridodonesis. 38 8
2334215 1990
18
A severe form of congenital contractural arachnodactyly in two newborn infants. 38 8
3789025 1986
19
Congenital contractural arachnodactyly. Report of four additional families and review of literature. 38 8
4017278 1985
20
Congenital contractural arachnodactyly. Report of a case and of an operation for knee contracture. 38 8
3968142 1985
21
Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred. 38 8
6465201 1984
22
Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree. 38 8
7205489 1981
23
[Congenital contractural arachnodactyly]. 38 8
7053184 1980
24
Congenital contractural arachnodactyly: description of a new kindred. 38 8
444317 1979
25
The clinical spectrum of congenital contractural arachnodactyly. A case with congenital heart disease. 38 8
4432555 1974
26
Congenital contractural arachnodactyly: a syndrome simulating Marfan's syndrome. 38 8
5057011 1972
27
"New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896. 38 8
4552107 1972
28
Congenital contractural arachnodactyly. A heritable disorder of connective tissue. 38 8
5557609 1971
29
Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. 38 6
25975422 2015
30
Evaluation of the adolescent or adult with some features of Marfan syndrome. 71
22237449 2012
31
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. 71
20799338 2010
32
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. 38 4
19006240 2009
33
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. 38 4
18767143 2009
34
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. 38 4
17345643 2007
35
Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. 38 4
16531736 2006
36
The molecular genetics of Marfan syndrome and related microfibrillopathies. 38 4
10633129 2000
37
Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice. 8
10401008 1999
38
A revised and extended classification of the distal arthrogryposes. 8
8923935 1996
39
Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome. 8
7778680 1995
40
Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. 8
7744963 1995
41
Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. 71
7633409 1995
42
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. 8
8136837 1994
43
Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature infant. 8
650351 1978
44
Hereditary dysplasia of bone with kyphoscoliosis, contractures, and abnormally shaped ears. 8
5667420 1968
45
[MARFAN'S DISEASE WITH IMPORTANT JOINT STIFFNESS AFFECTING 4 CHILDREN OF THE SAME KINSHIP AND THEIR MOTHER]. 8
14335780 1965
46
Arachnodactyly with amyoplasia congenita. 8
21065304 1946
47
Regulation of limb patterning by extracellular microfibrils. 4
11470817 2001
48
A clinical scoring system for congenital contractural arachnodactyly. 38
31316167 2019
49
A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five-generation Chinese family. 38
30147916 2018
50
A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly. 38
29864108 2018

Variations for Contractural Arachnodactyly, Congenital

ClinVar genetic disease variations for Contractural Arachnodactyly, Congenital:

6 (show top 50) (show all 562)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FBN2 NM_001999.4(FBN2): c.3777T> A (p.Asn1259Lys) single nucleotide variant Pathogenic rs267606802 5:127671217-127671217 5:128335525-128335525
2 FBN2 NM_001999.4(FBN2): c.827-2A> G single nucleotide variant Pathogenic 5:127782301-127782301 5:128446608-128446608
3 FBN2 NM_001999.4(FBN2): c.3759T> G (p.Cys1253Trp) single nucleotide variant Pathogenic rs28931602 5:127671235-127671235 5:128335543-128335543
4 FBN2 NM_001999.4(FBN2): c.3425G> T (p.Cys1142Phe) single nucleotide variant Pathogenic rs137852828 5:127674672-127674672 5:128338980-128338980
5 FBN2 NM_001999.4(FBN2): c.3343G> C (p.Asp1115His) single nucleotide variant Pathogenic rs137852827 5:127680077-127680077 5:128344385-128344385
6 FBN2 FBN2, IVS30, G-T, -26 single nucleotide variant Pathogenic
7 FBN2 NM_001999.4(FBN2): c.3725-15A> G single nucleotide variant Pathogenic rs587776519 5:127671284-127671284 5:128335592-128335592
8 FBN2 NM_001999.4(FBN2): c.4346-2A> T single nucleotide variant Pathogenic rs587776518 5:127664515-127664515 5:128328823-128328823
9 FBN2 NM_001999.4(FBN2): c.1171G> A (p.Glu391Lys) single nucleotide variant Pathogenic rs137852826 5:127730875-127730875 5:128395182-128395182
10 FBN2 NM_001999.4(FBN2): c.3758G> A (p.Cys1253Tyr) single nucleotide variant Pathogenic rs137852825 5:127671236-127671236 5:128335544-128335544
11 FBN2 NM_001999.4(FBN2): c.4306T> C (p.Cys1436Arg) single nucleotide variant Pathogenic rs1060503510 5:127666304-127666304 5:128330612-128330612
12 FBN2 NM_001999.4(FBN2): c.5917+5G> A single nucleotide variant Pathogenic 5:127638660-127638660 5:128302968-128302968
13 FBN2 NM_001999.4(FBN2): c.3467G> T (p.Cys1156Phe) single nucleotide variant Pathogenic/Likely pathogenic rs1206843725 5:127674630-127674630 5:128338938-128338938
14 FBN2 NM_001999.4(FBN2): c.3459_3461GAA[1] (p.Lys1154del) short repeat Likely pathogenic rs1554123139 5:127674633-127674635 5:128338941-128338943
15 FBN2 NM_001999.4(FBN2): c.3718T> G (p.Cys1240Gly) single nucleotide variant Likely pathogenic rs1554122897 5:127671686-127671686 5:128335994-128335994
16 FBN2 NM_001999.4(FBN2): c.3514G> T (p.Gly1172Cys) single nucleotide variant Likely pathogenic rs138303817 5:127673773-127673773 5:128338081-128338081
17 FBN2 NM_001999.4(FBN2): c.2945G> T (p.Cys982Phe) single nucleotide variant Likely pathogenic rs1057519321 5:127685083-127685083 5:128349391-128349391
18 FBN1 NM_000138.4(FBN1): c.6004C> T (p.Pro2002Ser) single nucleotide variant Likely pathogenic rs1057519320 15:48736771-48736771 15:48444574-48444574
19 FBN2 NC_000005.9: g.(?_127653841)_(127654693_?)del deletion Likely pathogenic 5:127653841-127654693 5:128318149-128319001
20 FBN2 NM_001999.4(FBN2): c.3973G> A (p.Asp1325Asn) single nucleotide variant Likely pathogenic rs1554122802 5:127670862-127670862 5:128335170-128335170
21 FBN2 NM_001999.4(FBN2): c.3472+1G> A single nucleotide variant Likely pathogenic rs1554123136 5:127674624-127674624 5:128338932-128338932
22 FBN2 NM_001999.4(FBN2): c.4285C> A (p.Pro1429Thr) single nucleotide variant Likely pathogenic rs1060503511 5:127666325-127666325 5:128330633-128330633
23 FBN2 NM_001999.4(FBN2): c.4222+1G> A single nucleotide variant Likely pathogenic rs1060503498 5:127668603-127668603 5:128332911-128332911
24 FBN2 NC_000005.9: g.(?_127636489)_(127638801_?)del deletion Likely pathogenic 5:127636489-127638801 5:128300797-128303109
25 FBN2 NM_001999.4(FBN2): c.3967T> G (p.Cys1323Gly) single nucleotide variant Likely pathogenic 5:127670868-127670868 5:128335176-128335176
26 FBN2 NM_001999.4(FBN2): c.1610A> G (p.Asp537Gly) single nucleotide variant Likely pathogenic 5:127714577-127714577 5:128378884-128378884
27 FBN2 NM_001999.4(FBN2): c.3259G> C (p.Gly1087Arg) single nucleotide variant Likely pathogenic 5:127680161-127680161 5:128344469-128344469
28 FBN2 NM_001999.4(FBN2): c.3344A> T (p.Asp1115Val) single nucleotide variant Likely pathogenic rs869025428 5:127674753-127674753 5:128339061-128339061
29 FBN2 NM_001999.4(FBN2): c.7630C> T (p.Gln2544Ter) single nucleotide variant Likely pathogenic rs1085307066 5:127610340-127610340 5:128274648-128274648
30 FBN2 NM_001999.4(FBN2): c.5917+9T> G single nucleotide variant Conflicting interpretations of pathogenicity rs371439173 5:127638656-127638656 5:128302964-128302964
31 FBN2 NM_001999.4(FBN2): c.3351C> T (p.Asp1117=) single nucleotide variant Conflicting interpretations of pathogenicity rs78484531 5:127674746-127674746 5:128339054-128339054
32 FBN2 NM_001999.4(FBN2): c.2363G> A (p.Arg788His) single nucleotide variant Conflicting interpretations of pathogenicity rs368116715 5:127700358-127700358 5:128364665-128364665
33 FBN2 NM_001999.4(FBN2): c.4407G> A (p.Pro1469=) single nucleotide variant Conflicting interpretations of pathogenicity rs546172367 5:127664452-127664452 5:128328760-128328760
34 FBN2 NM_001999.4(FBN2): c.3144C> T (p.Tyr1048=) single nucleotide variant Conflicting interpretations of pathogenicity rs1801167 5:127681122-127681122 5:128345430-128345430
35 FBN2 NM_001999.4(FBN2): c.1423G> A (p.Gly475Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200440156 5:127728870-127728870 5:128393177-128393177
36 FBN2 NM_001999.4(FBN2): c.1804del (p.Cys602fs) deletion Conflicting interpretations of pathogenicity rs886038824 5:127713490-127713490 5:128377797-128377797
37 FBN2 NM_001999.4(FBN2): c.6982G> T (p.Ala2328Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs199910288 5:127622440-127622440 5:128286748-128286748
38 FBN2 NM_001999.4(FBN2): c.3767A> G (p.Gln1256Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs139052603 5:127671227-127671227 5:128335535-128335535
39 FBN2 NM_001999.4(FBN2): c.3394G> A (p.Val1132Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138834515 5:127674703-127674703 5:128339011-128339011
40 FBN2 NM_001999.4(FBN2): c.3235G> T (p.Ala1079Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs774996980 5:127680185-127680185 5:128344493-128344493
41 FBN2 NM_001999.4(FBN2): c.3013T> C (p.Leu1005=) single nucleotide variant Conflicting interpretations of pathogenicity rs147633551 5:127681253-127681253 5:128345561-128345561
42 FBN2 NM_001999.4(FBN2): c.2990-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377500777 5:127681290-127681290 5:128345598-128345598
43 FBN2 NM_001999.4(FBN2): c.2801G> A (p.Arg934Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs376194507 5:127686571-127686571 5:128350879-128350879
44 FBN2 NM_001999.4(FBN2): c.2625T> C (p.Cys875=) single nucleotide variant Conflicting interpretations of pathogenicity rs371502563 5:127693017-127693017 5:128357325-128357325
45 FBN2 NM_001999.4(FBN2): c.2536G> A (p.Glu846Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs375666281 5:127697434-127697434 5:128361741-128361741
46 FBN2 NM_001999.4(FBN2): c.2042G> A (p.Arg681His) single nucleotide variant Conflicting interpretations of pathogenicity rs548605398 5:127710374-127710374 5:128374681-128374681
47 FBN2 NM_001999.4(FBN2): c.1543T> A (p.Ser515Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs528255772 5:127727771-127727771 5:128392078-128392078
48 FBN2 NM_001999.4(FBN2): c.1435G> A (p.Gly479Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs147346327 5:127728858-127728858 5:128393165-128393165
49 FBN2 NM_001999.4(FBN2): c.287_289del (p.Tyr96del) deletion Conflicting interpretations of pathogenicity rs555068280 5:127872143-127872145 5:128536450-128536452
50 FBN2 NM_001999.4(FBN2): c.809G> A (p.Arg270His) single nucleotide variant Conflicting interpretations of pathogenicity rs148971572 5:127800434-127800434 5:128464741-128464741

UniProtKB/Swiss-Prot genetic disease variations for Contractural Arachnodactyly, Congenital:

74 (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 rs155412306
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

Expression for Contractural Arachnodactyly, Congenital

Search GEO for disease gene expression data for Contractural Arachnodactyly, Congenital.

Pathways for Contractural Arachnodactyly, Congenital

GO Terms for Contractural Arachnodactyly, Congenital

Sources for Contractural Arachnodactyly, Congenital

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