JWS
MCID: JCK001
MIFTS: 49

Jackson-Weiss Syndrome (JWS) malady

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

Aliases & Classifications for Jackson-Weiss Syndrome

Aliases & Descriptions for Jackson-Weiss Syndrome:

Name: Jackson-Weiss Syndrome 54 50 24 25 56 66 29 13 52 69
Jws 50 25 56 66
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome 56
Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities 50
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities 66

Characteristics:

Orphanet epidemiological data:

56
jackson-weiss syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

HPO:

32
jackson-weiss syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 123150
Orphanet 56 ORPHA1540
UMLS via Orphanet 70 C0795998
MESH via Orphanet 43 C537559
ICD10 via Orphanet 34 Q87.8
MedGen 40 C0795998

Summaries for Jackson-Weiss Syndrome

NIH Rare Diseases : 50 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 antley-bixler syndrome without genital anomalies or disordered steroidogenesis and cervical spinal canal and spinal cord meningioma, 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 Akt Signaling and Cytokine Signaling in Immune system. Affiliated tissues include bone, and related phenotypes are Condensed cis-Golgi and Decreased human cytomegalovirus (HCMV) strain AD169 replication

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.

UniProtKB/Swiss-Prot : 66 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.

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)
id Related Disease Score Top Affiliating Genes
1 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.0 FGFR2 FGFR3
2 cervical spinal canal and spinal cord meningioma 10.0 FGFR2 FGFR3
3 aica-ribosiduria due to atic deficiency 10.0 FGFR2 FGFR3
4 muenke syndrome 10.0 FGFR2 FGFR3
5 lingual-facial-buccal dyskinesia 10.0 FGFR2 FGFR3
6 saethre-chotzen syndrome 10.0
7 crouzon syndrome 10.0
8 craniosynostosis 10.0
9 sp7-related osteogenesis imperfecta 10.0 FGFR2 FGFR3
10 leg dermatosis 10.0 FGFR2 FGFR3
11 hypoparathyroidism 10.0 FGFR2 FGFR3
12 t cell immunodeficiency primary 9.9 FGFR1 FGFR3
13 pkp1-related ectodermal dysplasia/skin fragility syndrome 9.9 FGFR1 FGFR2
14 pitx3-related anterior segment mesenchymal dysgenesis 9.9 FGFR1 FGFR2
15 acrofacial dysostosis, palagonia type 9.9 FGFR1 FGFR2
16 autosomal genetic disease 9.9 FGFR2 FGFR3
17 ovarian epithelial cancer 9.9 FGFR1 FGFR3
18 epidemic typhus 9.9 FGFR1 FGFR2
19 early myoclonic encephalopathy 9.9 FGFR1 FGFR3
20 pancreatic cystadenoma 9.8 FGFR1 FGFR2
21 taeniasis 9.8 FGFR1 FGFR2
22 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 9.8 FGFR1 FGFR2
23 familial porphyria cutanea tarda 9.8 FGFR1 FGFR2 FGFR3
24 hartsfield syndrome 9.8 FGFR1 FGFR2 FGFR3
25 pointer syndrome 9.8 FGFR1 FGFR2 FGFR3
26 osteoglophonic dysplasia 9.7 FGFR1 FGFR2 FGFR3
27 crouzon syndrome with acanthosis nigricans 9.7 FGFR1 FGFR2 FGFR3
28 scaphocephaly, maxillary retrusion, and mental retardation 9.7 FGFR1 FGFR2 FGFR3
29 apert syndrome 9.7 FGFR1 FGFR2 FGFR3
30 cervical cancer, somatic 9.7 FGFR1 FGFR2 FGFR3
31 thanatophoric dysplasia, type i 9.7 FGFR1 FGFR2 FGFR3
32 saddan 9.7 FGFR1 FGFR2 FGFR3
33 robinow-sorauf syndrome 9.7 FGFR1 FGFR2 FGFR3
34 bone structure disease 9.7 FGFR1 FGFR2 FGFR3
35 atrophy of testis 9.7 FGFR1 FGFR2 FGFR3
36 hypogonadotropic hypogonadism 2 with or without anosmia 9.7 FGFR1 FGFR2 FGFR3
37 cutaneous leishmaniasis 9.7 FGFR1 FGFR2 FGFR3
38 juvenile astrocytoma 9.7 FGFR1 FGFR3
39 herpes simplex encephalitis 9.7
40 spinal shock 9.7
41 transposition of the great arteries 9.7
42 burns 9.7
43 leukemia 9.7
44 paramyloidosis 9.7
45 ulnar neuropathy 9.7
46 herpes simplex 9.7
47 neuropathy 9.7
48 encephalitis 9.7
49 chronic neutrophilic leukemia 9.7

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 by clinical synopsis from OMIM:

123150

Clinical features from OMIM:

123150

Human phenotypes related to Jackson-Weiss Syndrome:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
2 frontal bossing 56 32 Frequent (79-30%) HP:0002007
3 ptosis 56 32 Frequent (79-30%) HP:0000508
4 mandibular prognathia 56 32 Frequent (79-30%) HP:0000303
5 broad hallux phalanx 56 32 Very frequent (99-80%) HP:0010059
6 strabismus 56 32 Frequent (79-30%) HP:0000486
7 hypoplasia of the maxilla 56 32 Frequent (79-30%) HP:0000327
8 turricephaly 56 32 Very frequent (99-80%) HP:0000262
9 midface retrusion 56 32 Very frequent (99-80%) HP:0011800
10 convex nasal ridge 56 32 Frequent (79-30%) HP:0000444
11 proptosis 56 32 Frequent (79-30%) HP:0000520
12 symphalangism affecting the phalanges of the hand 56 32 Occasional (29-5%) HP:0009773
13 abnormality of the palate 56 32 Frequent (79-30%) HP:0000174
14 underdeveloped supraorbital ridges 56 32 Frequent (79-30%) HP:0009891
15 2-3 toe syndactyly 56 32 Occasional (29-5%) HP:0004691
16 short metatarsal 56 32 Very frequent (99-80%) HP:0010743
17 split foot 56 32 Occasional (29-5%) HP:0001839
18 abnormality of the fibula 56 32 Occasional (29-5%) HP:0002991
19 broad metatarsal 56 32 Very frequent (99-80%) HP:0001783
20 preaxial foot polydactyly 56 32 Occasional (29-5%) HP:0001841
21 malar flattening 32 HP:0000272
22 craniosynostosis 32 HP:0001363
23 toe syndactyly 56 Very frequent (99-80%)
24 hallux varus 32 HP:0008080
25 broad hallux 32 HP:0010055
26 calcaneonavicular fusion 32 HP:0008122

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

26
id 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:

44
id 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:

id Genetic test Affiliating Genes
1 Jackson-Weiss Syndrome 29 24 FGFR2

Anatomical Context for Jackson-Weiss Syndrome

MalaCards organs/tissues related to Jackson-Weiss Syndrome:

39
Bone

Publications for Jackson-Weiss Syndrome

Articles related to Jackson-Weiss Syndrome:

id Title Authors Year
1
Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred. ( 11343323 )
2001
2
Jackson-Weiss syndrome. ( 11343324 )
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
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
7
Jackson-Weiss syndrome registered in four successive generations. The facies of Crouzon's syndrome with foot abnormalities. ( 7924855 )
1994
8
Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter. ( 8092187 )
1994

Variations for Jackson-Weiss Syndrome

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

66
id 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
id 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 39)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13 FGFR1 FGFR2 FGFR3
2
Show member pathways
12.96 FGFR1 FGFR2 FGFR3
3
Show member pathways
12.93 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.91 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.89 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.77 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.73 FGFR1 FGFR2 FGFR3
8
Show member pathways
12.71 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.68 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.65 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.55 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.54 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.43 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.43 FGFR1 FGFR2 FGFR3
15 12.41 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.39 FGFR1 FGFR2 FGFR3
17 12.36 FGFR1 FGFR2 FGFR3
18 12.32 FGFR1 FGFR2 FGFR3
19 12.29 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.27 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.19 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.12 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
11.89 FGFR1 FGFR2 FGFR3
28
Show member pathways
11.82 FGFR1 FGFR2 FGFR3
29
Show member pathways
11.78 FGFR1 FGFR2 FGFR3
30 11.7 FGFR1 FGFR2 FGFR3
31 11.64 FGFR1 FGFR2 FGFR3
32 11.56 FGFR1 FGFR3
33 11.45 FGFR1 FGFR3
34 11.44 FGFR1 FGFR2 FGFR3
35 11.42 FGFR1 FGFR2 FGFR3
36 11.29 FGFR1 FGFR2
37 11.27 FGFR1 FGFR2 FGFR3
38 10.94 FGFR1 FGFR2 FGFR3
39 10.45 FGFR1 FGFR2 FGFR3

GO Terms for Jackson-Weiss Syndrome

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

id 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 35)
id Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.83 FGFR1 FGFR2 FGFR3
2 protein phosphorylation GO:0006468 9.82 FGFR1 FGFR2 FGFR3
3 positive regulation of GTPase activity GO:0043547 9.81 FGFR1 FGFR2 FGFR3
4 positive regulation of cell proliferation GO:0008284 9.8 FGFR1 FGFR2 FGFR3
5 MAPK cascade GO:0000165 9.74 FGFR1 FGFR2 FGFR3
6 protein autophosphorylation GO:0046777 9.7 FGFR1 FGFR2 FGFR3
7 peptidyl-tyrosine phosphorylation GO:0018108 9.69 FGFR1 FGFR2 FGFR3
8 in utero embryonic development GO:0001701 9.67 FGFR1 FGFR2
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.66 FGFR2 FGFR3
10 skeletal system development GO:0001501 9.66 FGFR1 FGFR3
11 lung development GO:0030324 9.65 FGFR1 FGFR2
12 inner ear morphogenesis GO:0042472 9.65 FGFR1 FGFR2
13 phosphatidylinositol-mediated signaling GO:0048015 9.65 FGFR1 FGFR2 FGFR3
14 ureteric bud development GO:0001657 9.63 FGFR1 FGFR2
15 skeletal system morphogenesis GO:0048705 9.62 FGFR1 FGFR2
16 chondrocyte differentiation GO:0002062 9.62 FGFR1 FGFR3
17 positive regulation of cell cycle GO:0045787 9.61 FGFR1 FGFR2
18 midbrain development GO:0030901 9.61 FGFR1 FGFR2
19 phosphatidylinositol phosphorylation GO:0046854 9.61 FGFR1 FGFR2 FGFR3
20 bone mineralization GO:0030282 9.6 FGFR2 FGFR3
21 bone morphogenesis GO:0060349 9.59 FGFR2 FGFR3
22 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 FGFR1 FGFR2
23 positive regulation of cardiac muscle cell proliferation GO:0060045 9.58 FGFR1 FGFR2
24 positive regulation of MAPK cascade GO:0043410 9.58 FGFR1 FGFR2 FGFR3
25 branching involved in salivary gland morphogenesis GO:0060445 9.56 FGFR1 FGFR2
26 lung-associated mesenchyme development GO:0060484 9.55 FGFR1 FGFR2
27 mesenchymal cell differentiation GO:0048762 9.54 FGFR1 FGFR2
28 fibroblast growth factor receptor signaling pathway GO:0008543 9.5 FGFR1 FGFR2 FGFR3
29 endochondral bone growth GO:0003416 9.49 FGFR2 FGFR3
30 orbitofrontal cortex development GO:0021769 9.46 FGFR1 FGFR2
31 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.43 FGFR1 FGFR2 FGFR3
32 ventricular zone neuroblast division GO:0021847 9.37 FGFR1 FGFR2
33 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.16 FGFR1 FGFR2
34 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.13 FGFR1 FGFR2 FGFR3
35 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 11)
id Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.65 FGFR1 FGFR2 FGFR3
2 protein kinase activity GO:0004672 9.63 FGFR1 FGFR2 FGFR3
3 nucleotide binding GO:0000166 9.61 FGFR1 FGFR2 FGFR3
4 protein tyrosine kinase activity GO:0004713 9.58 FGFR1 FGFR2 FGFR3
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 FGFR1 FGFR2 FGFR3
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGFR1 FGFR2 FGFR3
7 heparin binding GO:0008201 9.49 FGFR1 FGFR2
8 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR1 FGFR2 FGFR3
9 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR1 FGFR2 FGFR3
10 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
11 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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