MCID: JCK001
MIFTS: 48

Jackson-Weiss Syndrome

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 53 72 49 24 55 71 36 28 13 51 69
Jws 53 49 24 55 71
Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities 53 49
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome 55
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities 71

Characteristics:

Orphanet epidemiological data:

55
jackson-weiss syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
jackson-weiss syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 123150
Orphanet 55 ORPHA1540
MESH via Orphanet 42 C537559
UMLS via Orphanet 70 C0795998
ICD10 via Orphanet 33 Q87.8
MedGen 39 C0795998
KEGG 36 H01988
UMLS 69 C0795998

Summaries for Jackson-Weiss Syndrome

NIH Rare Diseases : 49 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. Last updated: 5/14/2011

MalaCards based summary : Jackson-Weiss Syndrome, also known as jws, is related to crouzon syndrome and saethre-chotzen syndrome, and has symptoms including hypertelorism, frontal bossing and ptosis. An important gene associated with Jackson-Weiss Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Akt Signaling. Affiliated tissues include bone, and related phenotypes are Condensed cis-Golgi and Decreased human cytomegalovirus (HCMV) strain AD169 replication

UniProtKB/Swiss-Prot : 71 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 : 24 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.

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 48)
# Related Disease Score Top Affiliating Genes
1 crouzon syndrome 29.2 FGFR1 FGFR2 FGFR3
2 saethre-chotzen syndrome 29.2 FGFR1 FGFR2 FGFR3
3 craniosynostosis 29.2 FGFR1 FGFR2 FGFR3
4 ayme-gripp syndrome 10.1
5 luteoma 10.0 FGFR2 FGFR3
6 beare-stevenson cutis gyrata syndrome 10.0 FGFR2 FGFR3
7 thanatophoric dysplasia, type i 10.0 FGFR2 FGFR3
8 hypertropia 10.0 FGFR2 FGFR3
9 blood group, junior system 9.9
10 acanthosis nigricans 9.9 FGFR2 FGFR3
11 chromosome 2q35 duplication syndrome 9.9 FGFR2 FGFR3
12 porokeratosis 9.9 FGFR2 FGFR3
13 autosomal dominant disease 9.9 FGFR2 FGFR3
14 strabismus 9.8 FGFR2 FGFR3
15 synovial chondromatosis 9.8 FGFR1 FGFR3
16 osteochondroma 9.8 FGFR1 FGFR3
17 blood group--diego system 9.8
18 burns 9.8
19 leukemia 9.8
20 paramyloidosis 9.8
21 chronic neutrophilic leukemia 9.8
22 ulnar neuropathy 9.8
23 herpes simplex 9.8
24 neuropathy 9.8
25 encephalitis 9.8
26 herpes simplex encephalitis 9.8
27 spinal shock 9.8
28 transposition of the great arteries 9.8
29 dysostosis 9.8 FGFR2 FGFR3
30 giant cell glioblastoma 9.8 FGFR1 FGFR3
31 radioulnar synostosis 9.8 FGFR1 FGFR2
32 gliosarcoma 9.7 FGFR1 FGFR3
33 antley-bixler syndrome 9.7 FGFR1 FGFR2
34 cleft palate, isolated 9.6 FGFR1 FGFR2
35 orofacial cleft 9.5 FGFR1 FGFR2
36 hydrocephalus 9.5 FGFR2 FGFR3
37 tooth agenesis 9.4 FGFR1 FGFR2
38 plagiocephaly 9.4 FGFR1 FGFR2 FGFR3
39 osteoglophonic dysplasia 9.4 FGFR1 FGFR2 FGFR3
40 hypochondroplasia 9.4 FGFR1 FGFR2 FGFR3
41 apert syndrome 9.4 FGFR1 FGFR2 FGFR3
42 lacrimoauriculodentodigital syndrome 9.4 FGFR1 FGFR2 FGFR3
43 achondroplasia 9.4 FGFR1 FGFR2 FGFR3
44 muenke syndrome 9.4 FGFR1 FGFR2 FGFR3
45 bone development disease 9.4 FGFR1 FGFR2 FGFR3
46 pfeiffer syndrome 9.4 FGFR1 FGFR2 FGFR3
47 synostosis 9.4 FGFR1 FGFR2 FGFR3
48 lung squamous cell carcinoma 9.4 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:

53
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:

55 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
3 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
4 mandibular prognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000303
5 broad hallux phalanx 55 31 hallmark (90%) Very frequent (99-80%) HP:0010059
6 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
7 hypoplasia of the maxilla 55 31 frequent (33%) Frequent (79-30%) HP:0000327
8 turricephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000262
9 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0011800
10 convex nasal ridge 55 31 frequent (33%) Frequent (79-30%) HP:0000444
11 abnormality of the palate 55 31 frequent (33%) Frequent (79-30%) HP:0000174
12 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
13 symphalangism affecting the phalanges of the hand 55 31 occasional (7.5%) Occasional (29-5%) HP:0009773
14 underdeveloped supraorbital ridges 55 31 frequent (33%) Frequent (79-30%) HP:0009891
15 2-3 toe syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0004691
16 short metatarsal 55 31 hallmark (90%) Very frequent (99-80%) HP:0010743
17 split foot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001839
18 broad metatarsal 55 31 hallmark (90%) Very frequent (99-80%) HP:0001783
19 preaxial foot polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001841
20 malar flattening 31 HP:0000272
21 craniosynostosis 31 HP:0001363
22 toe syndactyly 55 Very frequent (99-80%)
23 abnormality of the fibula 55 Occasional (29-5%)
24 hallux varus 31 HP:0008080
25 broad hallux 31 HP:0010055
26 calcaneonavicular fusion 31 HP:0008122
27 abnormality of fibula morphology 31 occasional (7.5%) HP:0002991

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

25
# 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:

43
# 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 28 FGFR1 FGFR2

Anatomical Context for Jackson-Weiss Syndrome

MalaCards organs/tissues related to Jackson-Weiss Syndrome:

38
Bone

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 "lost" 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
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. ( 7581378 )
1995
5
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. ( 8528214 )
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:

71
# 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
# 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> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
3 FGFR2 NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly) single nucleotide variant Pathogenic rs121918492 GRCh37 Chromosome 10, 123276886: 123276886
4 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh37 Chromosome 10, 123279566: 123279566
5 FGFR1 NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg) single nucleotide variant Pathogenic rs121909627 GRCh37 Chromosome 8, 38282208: 38282208
6 FGFR2 NM_000141.4(FGFR2): c.1025G> T (p.Cys342Phe) single nucleotide variant Pathogenic rs121918487 GRCh37 Chromosome 10, 123276892: 123276892
7 FGFR2 NM_000141.4(FGFR2): c.1025G> C (p.Cys342Ser) single nucleotide variant Pathogenic rs121918487 GRCh37 Chromosome 10, 123276892: 123276892

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 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 FGFR1 FGFR2 FGFR3
2
Show member pathways
13 FGFR1 FGFR2 FGFR3
3
Show member pathways
12.97 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.93 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.91 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.89 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.77 FGFR1 FGFR2 FGFR3
8
Show member pathways
12.73 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.71 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.71 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.66 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.64 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.55 FGFR1 FGFR2 FGFR3
14 12.52 FGFR1 FGFR2 FGFR3
15 12.45 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.42 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.41 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.39 FGFR1 FGFR2 FGFR3
19 12.32 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.27 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.2 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.14 FGFR1 FGFR2 FGFR3
23
Show member pathways
12.12 FGFR1 FGFR2 FGFR3
24
Show member pathways
12.07 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.07 FGFR1 FGFR2 FGFR3
26
Show member pathways
11.94 FGFR1 FGFR2 FGFR3
27
Show member pathways
11.93 FGFR1 FGFR2 FGFR3
28
Show member pathways
11.88 FGFR1 FGFR2 FGFR3
29
Show member pathways
11.81 FGFR1 FGFR2 FGFR3
30 11.74 FGFR1 FGFR2 FGFR3
31 11.69 FGFR1 FGFR2 FGFR3
32 11.56 FGFR1 FGFR3
33 11.51 FGFR1 FGFR2 FGFR3
34 11.46 FGFR1 FGFR3
35 11.38 FGFR1 FGFR2 FGFR3
36 11.29 FGFR1 FGFR2
37 11.14 FGFR1 FGFR2 FGFR3
38 11.09 FGFR1 FGFR2 FGFR3
39 10.79 FGFR1 FGFR2 FGFR3
40 10.71 FGFR1 FGFR2 FGFR3
41 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 9.13 FGFR1 FGFR2 FGFR3
2 cytoplasmic vesicle GO:0031410 8.8 FGFR1 FGFR2 FGFR3

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.82 FGFR1 FGFR2 FGFR3
2 protein phosphorylation GO:0006468 9.81 FGFR1 FGFR2 FGFR3
3 positive regulation of cell proliferation GO:0008284 9.8 FGFR1 FGFR2 FGFR3
4 MAPK cascade GO:0000165 9.73 FGFR1 FGFR2 FGFR3
5 protein autophosphorylation GO:0046777 9.7 FGFR1 FGFR2 FGFR3
6 peptidyl-tyrosine phosphorylation GO:0018108 9.69 FGFR1 FGFR2 FGFR3
7 in utero embryonic development GO:0001701 9.66 FGFR1 FGFR2
8 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.65 FGFR2 FGFR3
9 skeletal system development GO:0001501 9.65 FGFR1 FGFR3
10 lung development GO:0030324 9.65 FGFR1 FGFR2
11 positive regulation of protein kinase B signaling GO:0051897 9.65 FGFR1 FGFR2 FGFR3
12 inner ear morphogenesis GO:0042472 9.64 FGFR1 FGFR2
13 ureteric bud development GO:0001657 9.62 FGFR1 FGFR2
14 skeletal system morphogenesis GO:0048705 9.62 FGFR1 FGFR2
15 chondrocyte differentiation GO:0002062 9.61 FGFR1 FGFR3
16 positive regulation of cell cycle GO:0045787 9.61 FGFR1 FGFR2
17 midbrain development GO:0030901 9.6 FGFR1 FGFR2
18 positive regulation of cardiac muscle cell proliferation GO:0060045 9.59 FGFR1 FGFR2
19 bone mineralization GO:0030282 9.58 FGFR2 FGFR3
20 bone morphogenesis GO:0060349 9.58 FGFR2 FGFR3
21 phosphatidylinositol phosphorylation GO:0046854 9.58 FGFR1 FGFR2 FGFR3
22 positive regulation of mesenchymal cell proliferation GO:0002053 9.57 FGFR1 FGFR2
23 branching involved in salivary gland morphogenesis GO:0060445 9.55 FGFR1 FGFR2
24 mesenchymal cell differentiation GO:0048762 9.54 FGFR1 FGFR2
25 positive regulation of MAPK cascade GO:0043410 9.54 FGFR1 FGFR2 FGFR3
26 lung-associated mesenchyme development GO:0060484 9.49 FGFR1 FGFR2
27 endochondral bone growth GO:0003416 9.46 FGFR2 FGFR3
28 orbitofrontal cortex development GO:0021769 9.43 FGFR1 FGFR2
29 fibroblast growth factor receptor signaling pathway GO:0008543 9.43 FGFR1 FGFR2 FGFR3
30 ventricular zone neuroblast division GO:0021847 9.32 FGFR1 FGFR2
31 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.16 FGFR1 FGFR2
32 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.13 FGFR1 FGFR2 FGFR3
33 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 12)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.69 FGFR1 FGFR2 FGFR3
2 kinase activity GO:0016301 9.65 FGFR1 FGFR2 FGFR3
3 protein kinase activity GO:0004672 9.63 FGFR1 FGFR2 FGFR3
4 nucleotide binding GO:0000166 9.61 FGFR1 FGFR2 FGFR3
5 protein tyrosine kinase activity GO:0004713 9.58 FGFR1 FGFR2 FGFR3
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 FGFR1 FGFR2 FGFR3
7 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGFR1 FGFR2 FGFR3
8 heparin binding GO:0008201 9.49 FGFR1 FGFR2
9 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR1 FGFR2 FGFR3
10 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR1 FGFR2 FGFR3
11 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
12 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....