CCA
MCID: CNT099
MIFTS: 53

Contractural Arachnodactyly, Congenital (CCA)

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

Aliases & Classifications for Contractural Arachnodactyly, Congenital

MalaCards integrated aliases for Contractural Arachnodactyly, Congenital:

Name: Contractural Arachnodactyly, Congenital 56 25 73 13
Congenital Contractural Arachnodactyly 12 74 24 52 25 58 73 36 29 6 43 15
Beals Syndrome 56 12 74 24 52 25 58 73
Beals-Hecht Syndrome 12 24 52 25 58
Cca 56 12 52 25 73
Arthrogryposis, Distal, Type 9 56 73 39
Distal Arthrogryposis Type 9 12 52 58
Da9 56 25 73
Ear Anomalies-Contractures-Dysplasia of Bone with Kyphoscoliosis 12 52
Contractures, Multiple with Arachnodactyly 12 52
Arachnodactyly, Contractural Beals Type 12 52
Arthrogryposis, Distal, Type 9; Da9 56
Arthrogyroposis, Distal, Type 9 25
Distal Arthrogyropsis Type 9 25
Cca Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
congenital contractural arachnodactyly
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
contractural arachnodactyly, congenital:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance The penetrance for cca is likely up to 100%, but some disease manifestations, including the ear and joint manifestations, may become less obvious with age. nevertheless, upon careful examination, less than 1.2% of the variability of the clinical score (table 2) could be attributed to age [meerschaut et al 2019]. indeed, a previous report indicates that the diagnosis was often retrospectively made in one parent of a proband due to mild features still evident in adulthood (mild contractures without any functional impairment and/or prominent helical crus and anterior antihelical crus ["tram track" ears]) [callewaert et al 2009]. in addition, long-bone overgrowth and scoliosis may become more prominent with age....

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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 diarrhea and loeys-dietz syndrome. An important gene associated with Contractural Arachnodactyly, Congenital is FBN2 (Fibrillin 2). Affiliated tissues include bone, heart and eye, and related phenotypes are joint stiffness and high palate

Disease Ontology : 12 A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has material basis in heterozygous mutation in FBN2 on chromosome 5q23.3.

NIH Rare Diseases : 52 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 : 56 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 : 36 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 : 73 Contractural arachnodactyly, congenital: An autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears.

Wikipedia : 74 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 158)
# Related Disease Score Top Affiliating Genes
1 diarrhea 29.7 TGM2 SERPINA1 MPG GUCY2C
2 loeys-dietz syndrome 29.4 TSHZ1 GUCY2C GLYAT GGT1 GGCT GAA
3 distal arthrogryposis 26.6 UGT8 TSHZ1 TGM2 TBX1 SERPINA1 PCYT1A
4 bile duct cancer 11.9
5 cholangiocarcinoma 11.6
6 klatskin's tumor 11.2
7 schistosoma mansoni infection, susceptibility/ 10.7
8 schistosomiasis 10.7
9 marden-walker syndrome 10.6
10 intestinal schistosomiasis 10.4
11 intrahepatic cholangiocarcinoma 10.4
12 lung disease 10.4
13 keratoconus 10.4
14 polyembryoma 10.3 SERPINA1 CGA
15 perforation of bile duct 10.3 SERPINA1 GGT1
16 dientamoebiasis 10.3 GGT1 GGCT
17 ovarian mixed germ cell neoplasm 10.3 SERPINA1 CGA
18 marfan syndrome 10.3
19 scoliosis 10.3
20 muscular atrophy 10.3
21 homocystinuria 10.3
22 aspirin allergy 10.3 TGM2 ITGA2B
23 amelogenesis imperfecta, type if 10.2 GGT1 GGCT
24 muscular disease 10.2 TSHZ1 GLYAT GAA AGA
25 familial adenomatous polyposis 2 10.2 MPG GGT1
26 viral laryngitis 10.2 SERPINA1 GGT1 DOCK11
27 neuroblastoma 10.2
28 whiplash 10.2
29 esophageal varix 10.2 SERPINA1 GGT1
30 cataract 4, multiple types 10.1 GLYAT GGT1 GGCT GAA
31 coloboma of macula 10.1
32 aortic dissection 10.1
33 cataract 34, multiple types 10.1 GGT1 GGCT
34 autoimmune disease 10.1
35 urinary schistosomiasis 10.1
36 sideroblastic anemia 10.1
37 extracranial carotid artery aneurysm 10.1
38 ear folding 10.1
39 ectopia lentis 1, isolated, autosomal dominant 10.1
40 arthrogryposis, distal, type 7 10.1
41 protrusio acetabuli 10.1
42 orthostatic intolerance 10.1
43 patent ductus arteriosus 1 10.1
44 alacrima, achalasia, and mental retardation syndrome 10.1
45 brachydactyly 10.1
46 stickler syndrome 10.1
47 isolated ectopia lentis 10.1
48 sensorineural hearing loss 10.1
49 clubfoot 10.1
50 synostosis 10.1

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:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
3 arachnodactyly 58 31 very rare (1%) Very frequent (99-80%) HP:0001166
4 slender build 58 31 hallmark (90%) Very frequent (99-80%) HP:0001533
5 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
6 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
7 congenital kyphoscoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008453
8 abnormally folded helix 58 31 hallmark (90%) Very frequent (99-80%) HP:0008544
9 crumpled ear 58 31 very rare (1%) Very frequent (99-80%) HP:0009901
10 disproportionate tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0001519
11 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
12 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
13 ectopia lentis 58 31 very rare (1%) Occasional (29-5%) HP:0001083
14 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
15 duodenal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002247
16 aortic aneurysm 31 occasional (7.5%) HP:0004942
17 pectus carinatum 31 very rare (1%) HP:0000768
18 micrognathia 31 very rare (1%) HP:0000347
19 elbow flexion contracture 31 very rare (1%) HP:0002987
20 talipes equinovarus 31 very rare (1%) HP:0001762
21 kyphoscoliosis 31 very rare (1%) HP:0002751
22 patellar dislocation 31 very rare (1%) HP:0002999
23 hip contracture 31 very rare (1%) HP:0003273
24 knee flexion contracture 31 very rare (1%) HP:0006380
25 short neck 31 HP:0000470
26 scoliosis 58 Very frequent (99-80%)
27 flexion contracture 58 Very frequent (99-80%)
28 brachycephaly 31 HP:0000248
29 malformation of the heart and great vessels 58 Occasional (29-5%)
30 frontal bossing 31 HP:0002007
31 metatarsus adductus 31 HP:0001840
32 osteopenia 31 HP:0000938
33 myopia 31 HP:0000545
34 atrial septal defect 31 HP:0001631
35 bicuspid aortic valve 31 HP:0001647
36 motor delay 31 HP:0001270
37 mitral regurgitation 31 HP:0001653
38 dolichocephaly 31 HP:0000268
39 patent ductus arteriosus 31 HP:0001643
40 ventricular septal defect 31 HP:0001629
41 adducted thumb 31 HP:0001181
42 ulnar deviation of finger 31 HP:0009465
43 abnormality of the musculature 58 Very frequent (99-80%)
44 aortic root aneurysm 31 HP:0002616
45 aortic dilatation 58 Occasional (29-5%)
46 congenital contracture 58 Very frequent (99-80%)
47 distal arthrogryposis 31 HP:0005684
48 scaphocephaly 31 HP:0030799
49 calf muscle hypoplasia 31 HP:0008962
50 patellar subluxation 31 HP:0010499

Symptoms via clinical synopsis from OMIM:

56
Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

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

Head And Neck Eyes:
myopia
ectopia lentis

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

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

Head And Neck Head:
brachycephaly
dolichocephaly
scaphocephaly

Skeletal:
osteopenia

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

Cardiovascular Vascular:
patent ductus arteriosus
aortic root dilatation

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

GenomeRNAi Phenotypes related to Contractural Arachnodactyly, Congenital according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.6 GGCT
2 Decreased viability GR00249-S 9.6 CGA GCA GGT1 GLS
3 Decreased viability GR00381-A-1 9.6 DOCK11 GGT1 MPG TBX1 UGT8
4 Decreased viability GR00386-A-1 9.6 CGA GLS ITGA2B
5 Decreased viability GR00402-S-2 9.6 CGA DOCK11 FBN2 FLVCR2 GGCT TSHZ1

MGI Mouse Phenotypes related to Contractural Arachnodactyly, Congenital:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 AGA CGA FBN2 FLVCR2 GAA GGT1
2 behavior/neurological MP:0005386 10.06 AGA FBN2 FLVCR2 GAA GGT1 GLS
3 immune system MP:0005387 9.9 FBN2 FLVCR2 GCA GGT1 GUCY2C ITGA2B
4 mortality/aging MP:0010768 9.77 AGA FBN2 FLVCR2 GGT1 GLS GUCY2C
5 nervous system MP:0003631 9.32 AGA CGA FBN2 FLVCR2 GLS ITGA2B

Drugs & Therapeutics for Contractural Arachnodactyly, Congenital

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

Cochrane evidence based reviews: congenital contractural arachnodactyly

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:

40
Bone, Heart, Eye, Kidney

Publications for Contractural Arachnodactyly, Congenital

Articles related to Contractural Arachnodactyly, Congenital:

(show top 50) (show all 161)
# Title Authors PMID Year
1
Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. 61 24 6 56
9106527 1997
2
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. 61 56 6 24
8900230 1996
3
Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. 61 56 6
10797416 2000
4
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. 61 56 6
7493032 1995
5
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. 61 56 24
11754102 2002
6
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. 56 24 61
9714438 1998
7
A severe form of congenital contractural arachnodactyly in two newborn infants. 56 24 61
3789025 1986
8
The clinical spectrum of congenital contractural arachnodactyly. A case with congenital heart disease. 61 56 24
4432555 1974
9
Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. 24 61 52
25975422 2015
10
Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. 56 61
11285249 2001
11
Congenital Contractural Arachnodactyly 61 6
20301560 2001
12
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. 61 6
9737771 1998
13
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. 6 61
9199560 1997
14
Congenital contractural arachnodactyly (Beals syndrome). 56 61
7815423 1994
15
Congenital contractural arachnodactyly with unilateral lower limb deficiency. 61 56
1519656 1992
16
Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly. 56 61
1308360 1992
17
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. 56 61
1852206 1991
18
Beals syndrome: clinical and molecular investigations in a kindred of Indian descent. 56 61
1674682 1991
19
Contractural arachnodactyly with mitral regurgitation and iridodonesis. 56 61
2334215 1990
20
Congenital contractural arachnodactyly. Report of four additional families and review of literature. 56 61
4017278 1985
21
Congenital contractural arachnodactyly. Report of a case and of an operation for knee contracture. 61 56
3968142 1985
22
Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred. 56 61
6465201 1984
23
Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree. 61 56
7205489 1981
24
[Congenital contractural arachnodactyly]. 61 56
7053184 1980
25
Congenital contractural arachnodactyly: description of a new kindred. 61 56
444317 1979
26
Congenital contractural arachnodactyly: a syndrome simulating Marfan's syndrome. 56 61
5057011 1972
27
"New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896. 61 56
4552107 1972
28
Congenital contractural arachnodactyly. A heritable disorder of connective tissue. 56 61
5557609 1971
29
A clinical scoring system for congenital contractural arachnodactyly. 24 61
31316167 2020
30
Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly. 61 24
28762477 2017
31
Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly. 24 61
27912749 2016
32
Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report. 61 24
25493702 2015
33
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly. 24 61
25834781 2015
34
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis. 24 61
24585410 2014
35
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene. 24 61
27625873 2014
36
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
37
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. 6
20799338 2010
38
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. 61 24
19473076 2009
39
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. 24 61
19006240 2009
40
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. 61 24
17345643 2007
41
Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. 24 61
16531736 2006
42
Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice. 56
10401008 1999
43
Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. 61 24
9605585 1998
44
A revised and extended classification of the distal arthrogryposes. 56
8923935 1996
45
Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome. 56
7778680 1995
46
Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. 56
7744963 1995
47
Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. 6
7633409 1995
48
Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. 56
8120105 1994
49
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. 56
8136837 1994
50
Cardiac anomalies complicating congenital contractural arachnodactyly. 24 61
1750764 1991

Variations for Contractural Arachnodactyly, Congenital

ClinVar genetic disease variations for Contractural Arachnodactyly, Congenital:

6 (show top 50) (show all 715) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN2 NM_001999.4(FBN2):c.827-2A>GSNV Pathogenic 561010 rs1561461125 5:127782301-127782301 5:128446608-128446608
2 FBN2 NM_001999.4(FBN2):c.5917+5G>ASNV Pathogenic 580106 rs1561758622 5:127638660-127638660 5:128302968-128302968
3 FBN2 NC_000005.10:g.(?_128328686)_(128330705_?)deldeletion Pathogenic 655237 5:127664378-127666397 5:128328686-128330705
4 FBN2 NM_001999.4(FBN2):c.3777T>A (p.Asn1259Lys)SNV Pathogenic 18402 rs267606802 5:127671217-127671217 5:128335525-128335525
5 FBN2 NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp)SNV Pathogenic 527 rs28931602 5:127671235-127671235 5:128335543-128335543
6 FBN2 NM_001999.4(FBN2):c.3425G>T (p.Cys1142Phe)SNV Pathogenic 526 rs137852828 5:127674672-127674672 5:128338980-128338980
7 FBN2 NM_001999.4(FBN2):c.3343G>C (p.Asp1115His)SNV Pathogenic 525 rs137852827 5:127680077-127680077 5:128344385-128344385
8 FBN2 FBN2, IVS30, G-T, -26SNV Pathogenic 524
9 FBN2 NM_001999.4(FBN2):c.3725-15A>GSNV Pathogenic 523 rs587776519 5:127671284-127671284 5:128335592-128335592
10 FBN2 NM_001999.4(FBN2):c.4346-2A>TSNV Pathogenic 522 rs587776518 5:127664515-127664515 5:128328823-128328823
11 FBN2 NM_001999.4(FBN2):c.1171G>A (p.Glu391Lys)SNV Pathogenic 520 rs137852826 5:127730875-127730875 5:128395182-128395182
12 FBN2 NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr)SNV Pathogenic 519 rs137852825 5:127671236-127671236 5:128335544-128335544
13 FBN2 NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr)SNV Pathogenic 844617 5:127670524-127670524 5:128334832-128334832
14 FBN2 NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg)SNV Pathogenic 411834 rs1060503510 5:127666304-127666304 5:128330612-128330612
15 FBN2 NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe)SNV Pathogenic/Likely pathogenic 547356 rs1206843725 5:127674630-127674630 5:128338938-128338938
16 FBN2 NM_001999.4(FBN2):c.3459_3461GAA[1] (p.Lys1154del)short repeat Likely pathogenic 547355 rs1554123139 5:127674633-127674635 5:128338941-128338943
17 FBN2 NM_001999.4(FBN2):c.3718T>G (p.Cys1240Gly)SNV Likely pathogenic 547358 rs1554122897 5:127671686-127671686 5:128335994-128335994
18 FBN2 NC_000005.10:g.(?_128300797)_(128303109_?)deldeletion Likely pathogenic 657909 5:127636489-127638801 5:128300797-128303109
19 FBN2 NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly)SNV Likely pathogenic 625129 rs565227443 5:127714577-127714577 5:128378884-128378884
20 FBN2 NC_000005.10:g.(?_128318149)_(128319001_?)deldeletion Likely pathogenic 417565 5:127653841-127654693 5:128318149-128319001
21 FBN2 NM_001999.4(FBN2):c.3973G>A (p.Asp1325Asn)SNV Likely pathogenic 446528 rs1554122802 5:127670862-127670862 5:128335170-128335170
22 FBN2 NM_001999.4(FBN2):c.3472+1G>ASNV Likely pathogenic 458758 rs1554123136 5:127674624-127674624 5:128338932-128338932
23 FBN2 NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys)SNV Likely pathogenic 487464 rs138303817 5:127673773-127673773 5:128338081-128338081
24 FBN2 NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly)SNV Likely pathogenic 640396 5:127670868-127670868 5:128335176-128335176
25 FBN2 NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg)SNV Likely pathogenic 652062 5:127680161-127680161 5:128344469-128344469
26 FBN2 NM_001999.4(FBN2):c.4285C>A (p.Pro1429Thr)SNV Likely pathogenic 411835 rs1060503511 5:127666325-127666325 5:128330633-128330633
27 FBN2 NM_001999.4(FBN2):c.4222+1G>ASNV Likely pathogenic 411809 rs1060503498 5:127668603-127668603 5:128332911-128332911
28 FBN2 NM_001999.4(FBN2):c.3344A>T (p.Asp1115Val)SNV Likely pathogenic 222629 rs869025428 5:127674753-127674753 5:128339061-128339061
29 FBN2 NM_001999.4(FBN2):c.7630C>T (p.Gln2544Ter)SNV Likely pathogenic 225357 rs1085307066 5:127610340-127610340 5:128274648-128274648
30 FBN2 NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe)SNV Likely pathogenic 375300 rs1057519321 5:127685083-127685083 5:128349391-128349391
31 FBN1 NM_000138.4(FBN1):c.6004C>T (p.Pro2002Ser)SNV Likely pathogenic 375299 rs1057519320 15:48736771-48736771 15:48444574-48444574
32 FBN2 NM_001999.4(FBN2):c.2214A>T (p.Gly738=)SNV Conflicting interpretations of pathogenicity 350786 rs201548788 5:127704909-127704909 5:128369216-128369216
33 FBN2 NM_001999.4(FBN2):c.1078+12A>CSNV Conflicting interpretations of pathogenicity 350789 rs769211487 5:127744355-127744355 5:128408662-128408662
34 FBN2 NM_001999.4(FBN2):c.4298G>A (p.Arg1433His)SNV Conflicting interpretations of pathogenicity 388711 rs143462011 5:127666312-127666312 5:128330620-128330620
35 FBN2 NM_001999.4(FBN2):c.4472-11A>TSNV Conflicting interpretations of pathogenicity 377868 rs528062851 5:127654704-127654704 5:128319012-128319012
36 FBN2 NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp)SNV Conflicting interpretations of pathogenicity 350783 rs774248421 5:127685126-127685126 5:128349434-128349434
37 FBN2 NM_001999.4(FBN2):c.7212C>T (p.Leu2404=)SNV Conflicting interpretations of pathogenicity 263569 rs368506842 5:127614460-127614460 5:128278768-128278768
38 FBN2 NM_001999.4(FBN2):c.4407G>A (p.Pro1469=)SNV Conflicting interpretations of pathogenicity 263838 rs546172367 5:127664452-127664452 5:128328760-128328760
39 FBN2 NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)SNV Conflicting interpretations of pathogenicity 289728 rs199910288 5:127622440-127622440 5:128286748-128286748
40 FBN2 NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)SNV Conflicting interpretations of pathogenicity 350759 rs142747169 5:127595510-127595510 5:128259818-128259818
41 FBN2 NM_001999.4(FBN2):c.6167-4G>ASNV Conflicting interpretations of pathogenicity 350768 rs370981323 5:127627350-127627350 5:128291658-128291658
42 FBN2 NM_001999.4(FBN2):c.76A>G (p.Thr26Ala)SNV Conflicting interpretations of pathogenicity 213260 rs374922166 5:127873221-127873221 5:128537528-128537528
43 FBN2 NM_001999.4(FBN2):c.68C>G (p.Ala23Gly)SNV Conflicting interpretations of pathogenicity 213218 rs199560824 5:127873229-127873229 5:128537536-128537536
44 FBN2 NM_001999.4(FBN2):c.287_289del (p.Tyr96del)deletion Conflicting interpretations of pathogenicity 213385 rs555068280 5:127872143-127872145 5:128536450-128536452
45 FBN2 NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)SNV Conflicting interpretations of pathogenicity 213275 rs528255772 5:127727771-127727771 5:128392078-128392078
46 FBN2 NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg)SNV Conflicting interpretations of pathogenicity 213272 rs147346327 5:127728858-127728858 5:128393165-128393165
47 FBN2 NM_001999.4(FBN2):c.809G>A (p.Arg270His)SNV Conflicting interpretations of pathogenicity 213433 rs148971572 5:127800434-127800434 5:128464741-128464741
48 FBN2 NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)SNV Conflicting interpretations of pathogenicity 213228 rs138834515 5:127674703-127674703 5:128339011-128339011
49 FBN2 NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)SNV Conflicting interpretations of pathogenicity 213305 rs202050092 5:127680124-127680124 5:128344432-128344432
50 FBN2 NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser)SNV Conflicting interpretations of pathogenicity 213302 rs774996980 5:127680185-127680185 5:128344493-128344493

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

73 (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

Biological processes related to Contractural Arachnodactyly, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 thyroid gland development GO:0030878 9.26 TBX1 CGA
2 middle ear morphogenesis GO:0042474 9.16 TSHZ1 TBX1
3 glutathione biosynthetic process GO:0006750 8.96 GGT1 GGCT
4 soft palate development GO:0060023 8.62 TSHZ1 TBX1

Sources for Contractural Arachnodactyly, Congenital

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18 ExPASy
19 FMA
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