JWS
MCID: JCK001
MIFTS: 48

Jackson-Weiss Syndrome (JWS)

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

Aliases & Classifications for Jackson-Weiss Syndrome

MalaCards integrated aliases for Jackson-Weiss Syndrome:

Name: Jackson-Weiss Syndrome 57 76 53 25 59 75 37 29 13 55 6 40 73
Jws 57 53 25 59 75
Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities 57 53
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome 59
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities 75

Characteristics:

Orphanet epidemiological data:

59
jackson-weiss syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
jackson-weiss syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 123150
Orphanet 59 ORPHA1540
UMLS via Orphanet 74 C0795998
MESH via Orphanet 45 C537559
ICD10 via Orphanet 34 Q87.8
MedGen 42 C0795998
KEGG 37 H01988
UMLS 73 C0795998

Summaries for Jackson-Weiss Syndrome

NIH Rare Diseases : 53 Jackson-Weiss syndrome (JWS) is a genetic disorder characterized by specific malformations of the head and facial area and abnormalities of the feet. The range and severity of symptoms and findings may be extremely variable, and findings may include craniosynostosis; unusually flat, underdeveloped midfacial regions (midfacial hypoplasia); abnormally broad great toes; and/or malformation or fusion of certain bones within the feet. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner; in some cases, it is not inherited but results from a new mutation that occurs randomly. The treatment of JWS is typically directed toward the specific symptoms that are apparent in each individual.

MalaCards based summary : Jackson-Weiss Syndrome, also known as jws, is related to crouzon syndrome and saethre-chotzen syndrome. An important gene associated with Jackson-Weiss Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are TGF-Beta Pathway and Class I MHC mediated antigen processing and presentation. Affiliated tissues include bone and eye, and related phenotypes are turricephaly and mandibular prognathia

UniProtKB/Swiss-Prot : 75 Jackson-Weiss syndrome: An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence.

Genetics Home Reference : 25 Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Wikipedia : 76 Jackson–Weiss syndrome (JWS) is a genetic disorder characterized by foot abnormalities and the premature... more...

Description from OMIM: 123150

Related Diseases for Jackson-Weiss Syndrome

Diseases related to Jackson-Weiss Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 crouzon syndrome 28.8 FGFR1 FGFR2 FGFR3
2 saethre-chotzen syndrome 28.7 FGFR1 FGFR2 FGFR3
3 craniosynostosis 28.7 FGFR1 FGFR2 FGFR3
4 hemifacial hyperplasia 10.0 FGFR2 FGFR3
5 luteoma 10.0 FGFR2 FGFR3
6 beare-stevenson cutis gyrata syndrome 10.0 FGFR2 FGFR3
7 hypertropia 10.0 FGFR2 FGFR3
8 exophthalmos 9.9 FGFR2 FGFR3
9 acanthosis nigricans 9.9 FGFR2 FGFR3
10 chromosome 2q35 duplication syndrome 9.9 FGFR2 FGFR3
11 autosomal dominant disease 9.8 FGFR2 FGFR3
12 burns 9.8
13 paramyloidosis 9.8
14 chronic neutrophilic leukemia 9.8
15 ulnar neuropathy 9.8
16 herpes simplex 9.8
17 neuropathy 9.8
18 encephalitis 9.8
19 herpes simplex encephalitis 9.8
20 spinal shock 9.8
21 transposition of the great arteries 9.8
22 strabismus 9.8 FGFR2 FGFR3
23 synovial chondromatosis 9.7 FGFR1 FGFR3
24 chondroblastoma 9.7 FGFR1 FGFR3
25 osteochondroma 9.7 FGFR1 FGFR3
26 giant cell glioblastoma 9.7 FGFR1 FGFR3
27 radioulnar synostosis 9.6 FGFR1 FGFR2
28 gliosarcoma 9.6 FGFR1 FGFR3
29 antley-bixler syndrome 9.6 FGFR1 FGFR2
30 bladder urothelial carcinoma 9.6 FGFR1 FGFR3
31 bone marrow cancer 9.5 FGFR1 FGFR3
32 hydrocephalus 9.5 FGFR2 FGFR3
33 orofacial cleft 9.4 FGFR1 FGFR2
34 tooth agenesis 9.3 FGFR1 FGFR2
35 cleft palate, isolated 9.2 FGFR1 FGFR2
36 bone disease 9.2 FGFR2 FGFR3
37 plagiocephaly 9.1 FGFR1 FGFR2 FGFR3
38 osteoglophonic dysplasia 9.1 FGFR1 FGFR2 FGFR3
39 thanatophoric dysplasia, type i 9.1 FGFR1 FGFR2 FGFR3
40 hypochondroplasia 9.1 FGFR1 FGFR2 FGFR3
41 apert syndrome 9.1 FGFR1 FGFR2 FGFR3
42 lacrimoauriculodentodigital syndrome 9.1 FGFR1 FGFR2 FGFR3
43 achondroplasia 9.1 FGFR1 FGFR2 FGFR3
44 muenke syndrome 9.1 FGFR1 FGFR2 FGFR3
45 bone development disease 9.1 FGFR1 FGFR2 FGFR3
46 pfeiffer syndrome 9.1 FGFR1 FGFR2 FGFR3
47 synostosis 9.1 FGFR1 FGFR2 FGFR3
48 lung squamous cell carcinoma 9.0 FGFR1 FGFR2 FGFR3
49 adenocarcinoma 9.0 FGFR1 FGFR2 FGFR3

Graphical network of the top 20 diseases related to Jackson-Weiss Syndrome:



Diseases related to Jackson-Weiss Syndrome

Symptoms & Phenotypes for Jackson-Weiss Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skeletal Skull:
craniosynostosis

Skeletal Feet:
medially deviated, broad great toes
cutaneous syndactyly of second and third toes
short, broad metatarsal
tarsonavicular and calcaneonavicular fusion

Head And Neck Face:
midface hypoplasia


Clinical features from OMIM:

123150

Human phenotypes related to Jackson-Weiss Syndrome:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 turricephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000262
2 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
3 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
4 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
5 convex nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000444
6 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
7 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
8 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
9 broad metatarsal 59 32 hallmark (90%) Very frequent (99-80%) HP:0001783
10 split foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001839
11 preaxial foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001841
12 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
13 2-3 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0004691
14 symphalangism affecting the phalanges of the hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0009773
15 underdeveloped supraorbital ridges 59 32 frequent (33%) Frequent (79-30%) HP:0009891
16 broad hallux phalanx 59 32 hallmark (90%) Very frequent (99-80%) HP:0010059
17 short metatarsal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010743
18 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
19 abnormality of the palate 59 Frequent (79-30%)
20 toe syndactyly 59 Very frequent (99-80%)
21 abnormality of the fibula 59 Occasional (29-5%)
22 malar flattening 32 HP:0000272
23 craniosynostosis 32 HP:0001363
24 hallux varus 32 HP:0008080
25 calcaneonavicular fusion 32 HP:0008122
26 broad hallux 32 HP:0010055
27 abnormal palate morphology 32 frequent (33%) HP:0000174
28 abnormality of fibula morphology 32 occasional (7.5%) HP:0002991

GenomeRNAi Phenotypes related to Jackson-Weiss Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Condensed cis-Golgi GR00365-A 9.16 FGFR1 FGFR2
2 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.13 FGFR1 FGFR2 FGFR3
3 Decreased substrate adherent cell growth GR00193-A-2 8.8 FGFR2
4 Decreased substrate adherent cell growth GR00193-A-3 8.8 FGFR2 FGFR3

MGI Mouse Phenotypes related to Jackson-Weiss Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.54 FGFR1 FGFR2 FGFR3
2 digestive/alimentary MP:0005381 9.5 FGFR1 FGFR2 FGFR3
3 hearing/vestibular/ear MP:0005377 9.43 FGFR1 FGFR2 FGFR3
4 limbs/digits/tail MP:0005371 9.33 FGFR1 FGFR2 FGFR3
5 no phenotypic analysis MP:0003012 9.13 FGFR1 FGFR2 FGFR3
6 renal/urinary system MP:0005367 8.8 FGFR1 FGFR2 FGFR3

Drugs & Therapeutics for Jackson-Weiss Syndrome

Search Clinical Trials , NIH Clinical Center for Jackson-Weiss Syndrome

Genetic Tests for Jackson-Weiss Syndrome

Genetic tests related to Jackson-Weiss Syndrome:

# Genetic test Affiliating Genes
1 Jackson-Weiss Syndrome 29 FGFR1 FGFR2

Anatomical Context for Jackson-Weiss Syndrome

MalaCards organs/tissues related to Jackson-Weiss Syndrome:

41
Bone, Eye

Publications for Jackson-Weiss Syndrome

Articles related to Jackson-Weiss Syndrome:

# Title Authors Year
1
Jackson-Weiss syndrome. ( 11343324 )
2001
2
Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in &amp;quot;lost&amp;quot; descendants of the original kindred. ( 11343323 )
2001
3
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. ( 9385368 )
1997
4
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. ( 8528214 )
1995
5
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. ( 7581378 )
1995
6
Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter. ( 8092187 )
1994
7
Jackson-Weiss syndrome registered in four successive generations. The facies of Crouzon's syndrome with foot abnormalities. ( 7924855 )
1994
8
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. ( 8128964 )
1994

Variations for Jackson-Weiss Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Jackson-Weiss Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 FGFR1 p.Pro252Arg VAR_004111 rs121909627
2 FGFR2 p.Cys278Phe VAR_004121 rs776587763
3 FGFR2 p.Gln289Pro VAR_004123 rs121918497
4 FGFR2 p.Cys342Arg VAR_004137 rs121918488
5 FGFR2 p.Cys342Ser VAR_004138 rs121918488
6 FGFR2 p.Ala344Gly VAR_004140 rs121918492

ClinVar genetic disease variations for Jackson-Weiss Syndrome:

6
(show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
2 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh38 Chromosome 10, 121517379: 121517379
3 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
4 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh38 Chromosome 10, 121517379: 121517379
5 FGFR2 NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly) single nucleotide variant Pathogenic rs121918492 GRCh37 Chromosome 10, 123276886: 123276886
6 FGFR2 NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly) single nucleotide variant Pathogenic rs121918492 GRCh38 Chromosome 10, 121517372: 121517372
7 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh37 Chromosome 10, 123279566: 123279566
8 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh38 Chromosome 10, 121520052: 121520052
9 FGFR1 NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg) single nucleotide variant Pathogenic rs121909627 GRCh37 Chromosome 8, 38282208: 38282208
10 FGFR1 NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg) single nucleotide variant Pathogenic rs121909627 GRCh38 Chromosome 8, 38424690: 38424690
11 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
12 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
13 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
14 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
15 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh37 Chromosome 10, 123243197: 123243197
16 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh38 Chromosome 10, 121483683: 121483683
17 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh38 Chromosome 10, 121488036: 121488036
18 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh37 Chromosome 10, 123247550: 123247550
19 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh37 Chromosome 10, 123298158: 123298158
20 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh38 Chromosome 10, 121538644: 121538644
21 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh37 Chromosome 10, 123353213: 123353213
22 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh38 Chromosome 10, 121593699: 121593699
23 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh37 Chromosome 10, 123237869: 123237873
24 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh38 Chromosome 10, 121478355: 121478359
25 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh37 Chromosome 10, 123237969: 123237969
26 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh38 Chromosome 10, 121478455: 121478455
27 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh37 Chromosome 10, 123238002: 123238002
28 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh38 Chromosome 10, 121478488: 121478488
29 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh37 Chromosome 10, 123238902: 123238902
30 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh38 Chromosome 10, 121479388: 121479388
31 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh37 Chromosome 10, 123239112: 123239112
32 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh38 Chromosome 10, 121479598: 121479598
33 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh37 Chromosome 10, 123239260: 123239260
34 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh38 Chromosome 10, 121479746: 121479746
35 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh38 Chromosome 10, 121496734: 121496734
36 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh37 Chromosome 10, 123256248: 123256248
37 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 GRCh37 Chromosome 10, 123353459: 123353459
38 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 GRCh38 Chromosome 10, 121593945: 121593945
39 FGFR2 NM_000141.4(FGFR2): c.-135C> T single nucleotide variant Likely benign rs554557891 GRCh37 Chromosome 10, 123353466: 123353466
40 FGFR2 NM_000141.4(FGFR2): c.-135C> T single nucleotide variant Likely benign rs554557891 GRCh38 Chromosome 10, 121593952: 121593952
41 FGFR2 NM_000141.4(FGFR2): c.-236G> C single nucleotide variant Benign rs1047111 GRCh37 Chromosome 10, 123357561: 123357561
42 FGFR2 NM_000141.4(FGFR2): c.-236G> C single nucleotide variant Benign rs1047111 GRCh38 Chromosome 10, 121598047: 121598047
43 FGFR2 NM_000141.4(FGFR2): c.-318G> C single nucleotide variant Benign rs41301547 GRCh37 Chromosome 10, 123357643: 123357643
44 FGFR2 NM_000141.4(FGFR2): c.-318G> C single nucleotide variant Benign rs41301547 GRCh38 Chromosome 10, 121598129: 121598129
45 FGFR2 NM_000141.4(FGFR2): c.-535G> C single nucleotide variant Uncertain significance rs886046767 GRCh37 Chromosome 10, 123357860: 123357860
46 FGFR2 NM_000141.4(FGFR2): c.-535G> C single nucleotide variant Uncertain significance rs886046767 GRCh38 Chromosome 10, 121598346: 121598346
47 FGFR2 NM_000141.4(FGFR2): c.*1301C> T single nucleotide variant Likely benign rs71640261 GRCh37 Chromosome 10, 123238070: 123238070
48 FGFR2 NM_000141.4(FGFR2): c.*1301C> T single nucleotide variant Likely benign rs71640261 GRCh38 Chromosome 10, 121478556: 121478556
49 FGFR2 NM_000141.4(FGFR2): c.*1126T> C single nucleotide variant Uncertain significance rs370106008 GRCh37 Chromosome 10, 123238245: 123238245
50 FGFR2 NM_000141.4(FGFR2): c.*1126T> C single nucleotide variant Uncertain significance rs370106008 GRCh38 Chromosome 10, 121478731: 121478731

Expression for Jackson-Weiss Syndrome

Search GEO for disease gene expression data for Jackson-Weiss Syndrome.

Pathways for Jackson-Weiss Syndrome

Pathways related to Jackson-Weiss Syndrome according to GeneCards Suite gene sharing:

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 FGFR1 FGFR2 FGFR3
2
Show member pathways
13.05 FGFR1 FGFR2 FGFR3
3
Show member pathways
13.01 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.97 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.94 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.92 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.9 FGFR1 FGFR2 FGFR3
8
Show member pathways
12.78 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.73 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.72 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.65 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.64 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.56 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.56 FGFR1 FGFR2 FGFR3
15 12.53 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.47 FGFR1 FGFR2 FGFR3
17 12.46 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.43 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.42 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.39 FGFR1 FGFR2 FGFR3
21 12.32 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.27 FGFR1 FGFR2 FGFR3
23
Show member pathways
12.21 FGFR1 FGFR2 FGFR3
24
Show member pathways
12.15 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.15 FGFR1 FGFR2 FGFR3
26
Show member pathways
12.1 FGFR1 FGFR2 FGFR3
27
Show member pathways
12.09 FGFR1 FGFR2 FGFR3
28
Show member pathways
11.96 FGFR1 FGFR2 FGFR3
29
Show member pathways
11.91 FGFR1 FGFR2 FGFR3
30 11.84 FGFR1 FGFR2 FGFR3
31
Show member pathways
11.83 FGFR1 FGFR2 FGFR3
32
Show member pathways
11.78 FGFR1 FGFR2 FGFR3
33 11.78 FGFR1 FGFR2 FGFR3
34 11.72 FGFR1 FGFR2 FGFR3
35
Show member pathways
11.62 FGFR1 FGFR2 FGFR3
36 11.56 FGFR1 FGFR3
37 11.55 FGFR1 FGFR2 FGFR3
38 11.47 FGFR1 FGFR3
39 11.45 FGFR1 FGFR2 FGFR3
40 11.31 FGFR1 FGFR2
41 11.14 FGFR1 FGFR2 FGFR3
42 10.79 FGFR1 FGFR2 FGFR3
43 10.42 FGFR1 FGFR2 FGFR3

GO Terms for Jackson-Weiss Syndrome

Cellular components related to Jackson-Weiss Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.33 FGFR1 FGFR2 FGFR3
2 cytoplasmic vesicle GO:0031410 9.13 FGFR1 FGFR2 FGFR3
3 receptor complex GO:0043235 8.8 FGFR1 FGFR2 FGFR3

Biological processes related to Jackson-Weiss Syndrome according to GeneCards Suite gene sharing:

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.85 FGFR1 FGFR2 FGFR3
2 cell differentiation GO:0030154 9.84 FGFR1 FGFR2 FGFR3
3 phosphorylation GO:0016310 9.83 FGFR1 FGFR2 FGFR3
4 protein phosphorylation GO:0006468 9.83 FGFR1 FGFR2 FGFR3
5 negative regulation of apoptotic process GO:0043066 9.82 FGFR1 FGFR2 FGFR3
6 positive regulation of cell proliferation GO:0008284 9.82 FGFR1 FGFR2 FGFR3
7 MAPK cascade GO:0000165 9.76 FGFR1 FGFR2 FGFR3
8 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.75 FGFR1 FGFR2 FGFR3
9 protein autophosphorylation GO:0046777 9.72 FGFR1 FGFR2 FGFR3
10 peptidyl-tyrosine phosphorylation GO:0018108 9.71 FGFR1 FGFR2 FGFR3
11 positive regulation of protein kinase B signaling GO:0051897 9.69 FGFR1 FGFR2 FGFR3
12 in utero embryonic development GO:0001701 9.68 FGFR1 FGFR2
13 skeletal system development GO:0001501 9.67 FGFR1 FGFR3
14 central nervous system development GO:0007417 9.67 FGFR1 FGFR2
15 lung development GO:0030324 9.66 FGFR1 FGFR2
16 inner ear morphogenesis GO:0042472 9.65 FGFR1 FGFR2
17 positive regulation of MAPK cascade GO:0043410 9.65 FGFR1 FGFR2 FGFR3
18 ureteric bud development GO:0001657 9.64 FGFR1 FGFR2
19 positive regulation of cell cycle GO:0045787 9.63 FGFR1 FGFR2
20 skeletal system morphogenesis GO:0048705 9.63 FGFR1 FGFR2
21 negative regulation of signal transduction GO:0009968 9.63 FGFR1 FGFR2 FGFR3
22 chondrocyte differentiation GO:0002062 9.62 FGFR1 FGFR3
23 midbrain development GO:0030901 9.62 FGFR1 FGFR2
24 positive regulation of cardiac muscle cell proliferation GO:0060045 9.61 FGFR1 FGFR2
25 bone mineralization GO:0030282 9.61 FGFR2 FGFR3
26 bone morphogenesis GO:0060349 9.6 FGFR2 FGFR3
27 positive regulation of mesenchymal cell proliferation GO:0002053 9.59 FGFR1 FGFR2
28 phosphatidylinositol phosphorylation GO:0046854 9.58 FGFR1 FGFR2 FGFR3
29 branching involved in salivary gland morphogenesis GO:0060445 9.57 FGFR1 FGFR2
30 mesenchymal cell differentiation GO:0048762 9.56 FGFR1 FGFR2
31 lung-associated mesenchyme development GO:0060484 9.52 FGFR1 FGFR2
32 fibroblast growth factor receptor signaling pathway GO:0008543 9.5 FGFR1 FGFR2 FGFR3
33 endochondral bone growth GO:0003416 9.49 FGFR2 FGFR3
34 orbitofrontal cortex development GO:0021769 9.43 FGFR1 FGFR2
35 positive regulation of kinase activity GO:0033674 9.43 FGFR1 FGFR2 FGFR3
36 ventricular zone neuroblast division GO:0021847 9.37 FGFR1 FGFR2
37 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.16 FGFR1 FGFR2
38 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.13 FGFR1 FGFR2 FGFR3
39 positive regulation of phospholipase activity GO:0010518 8.8 FGFR1 FGFR2 FGFR3

Molecular functions related to Jackson-Weiss Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.72 FGFR1 FGFR2 FGFR3
2 kinase activity GO:0016301 9.7 FGFR1 FGFR2 FGFR3
3 protein kinase activity GO:0004672 9.69 FGFR1 FGFR2 FGFR3
4 nucleotide binding GO:0000166 9.67 FGFR1 FGFR2 FGFR3
5 transmembrane signaling receptor activity GO:0004888 9.65 FGFR1 FGFR2 FGFR3
6 protein tyrosine kinase activity GO:0004713 9.63 FGFR1 FGFR2 FGFR3
7 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.61 FGFR1 FGFR2 FGFR3
8 MAP kinase kinase kinase activity GO:0004709 9.58 FGFR1 FGFR2 FGFR3
9 heparin binding GO:0008201 9.54 FGFR1 FGFR2
10 mitogen-activated protein kinase kinase binding GO:0031434 9.54 FGFR1 FGFR2 FGFR3
11 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGFR1 FGFR2 FGFR3
12 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR1 FGFR2 FGFR3
13 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR1 FGFR2 FGFR3
14 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
15 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Jackson-Weiss Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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