JWS
MCID: JCK001
MIFTS: 57

Jackson-Weiss Syndrome (JWS) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
Download this MalaCard

Summaries for Jackson-Weiss Syndrome

About this section
Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 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: Jackson-Weiss Syndrome, also known as JWS, is related to crouzon syndrome and saethre-chotzen syndrome, and has symptoms including oligodactyly/ectrodactyly of toes, syndactyly of toes and symphalangy of fingers. An important gene associated with Jackson-Weiss Syndrome is FGFR2 (fibroblast growth factor receptor 2), and among its related pathways are Endocytosis and Endochondral Ossification. The compounds thalidomide and sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are renal/urinary system and normal.

Genetics Home Reference:21 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:47 123150

Aliases & Classifications for Jackson-Weiss Syndrome

About this section
Sources:
65Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

49
jackson-weiss syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

jackson-weiss syndrome 65 43 20 22 21 47 45 49 62
jws 65 43 21 49
craniosynostosis, midfacial hypoplasia, and foot abnormalities 43
craniosynostosis - midfacial hypoplasia - foot abnormalities 49


External Ids:

OMIM47 123150
MESH via Orphanet36 C537559
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0795998

Related Diseases for Jackson-Weiss Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1crouzon syndrome30.4FGFR1, FGFR3, FGFR2
2saethre-chotzen syndrome30.4FGFR2, FGFR3, FGFR1
3craniosynostosis30.4FGFR2, FGFR1, FGFR3
4myeloma30.0FGFR3, FGFR1
5osteochondroma10.1FGFR3
6beare-stevenson cutis gyrata syndrome10.1FGFR2
7antley-bixler syndrome10.1FGFR2
8osteoglophonic dysplasia10.1FGFR1
9achondroplasia10.0FGFR2, FGFR3
10burns10.0
11ulnar neuropathy10.0
12paramyloidosis10.0
13neuropathy10.0
14spinal shock10.0
15ladd syndrome10.0FGFR2, FGFR3
16strabismus10.0FGFR2, FGFR3
17thanatophoric dysplasia10.0FGFR3, FGFR2
18acanthosis nigricans10.0FGFR2, FGFR3
19syndactyly10.0FGFR2, FGFR3
20transitional cell carcinoma10.0FGFR3, FGFR2
21bladder carcinoma10.0FGFR3, FGFR2
22skin disease10.0FGFR2, FGFR3
23infectious mononucleosis10.0FGFR2, FGFR1
24cleft palate10.0FGFR2, FGFR1
25embryonal cancer10.0FGFR2, FGFR1
26stomach cancer10.0FGFR1, FGFR2
27prostate cancer10.0FGFR1, FGFR2
28primary hyperoxaluria10.0FGFR2, FGFR1
29fgfr-related craniosynostosis syndromes9.9FGFR3, FGFR2, FGFR1
30muenke syndrome9.9FGFR1, FGFR3, FGFR2
31hypochondroplasia9.9FGFR2, FGFR3, FGFR1
32acrocephalosyndactylia9.9FGFR2, FGFR1, FGFR3
33synostosis9.9FGFR1, FGFR2, FGFR3
34skeletal dysplasias9.9FGFR3, FGFR1, FGFR2
35dwarfism9.9FGFR2, FGFR1, FGFR3
36developmental disabilities9.9FGFR2, FGFR3, FGFR1
37chondrosarcoma9.9FGFR1, FGFR3, FGFR2
38colorectal cancer9.9FGFR3, FGFR2, FGFR1
39melanoma9.9FGFR2, FGFR3, FGFR1
40leukemia9.9FGFR3, FGFR1, FGFR2
41astrocytoma9.9FGFR1, FGFR2
42breast cancer9.9FGFR3, FGFR2, FGFR1

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



Diseases related to jackson-weiss syndrome

Symptoms for Jackson-Weiss Syndrome

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

123150

Clinical features from OMIM:

123150

Symptoms:

49 (show all 21)
  • oligodactyly/ectrodactyly of toes
  • syndactyly of toes
  • symphalangy of fingers
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • turricephaly/oxycephaly/acrocephaly
  • flat supraorbital ridge
  • tarsal anomaly/fusion/synostosis
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly
  • preaxial polydactyly of toes/big toe duplication
  • beaked nose
  • proptosis/exophthalmos
  • hypertelorism
  • syndactyly of fingers/interdigital palm
  • ptosis
  • autosomal dominant inheritance
  • high vaulted/narrow palate
  • prognathism/prognathia
  • broad/bifid big toe
  • mid-facial hypoplasia/short/small midface
  • strabismus/squint
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Jackson-Weiss Syndrome

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Jackson-Weiss Syndrome

Search NIH Clinical Center for Jackson-Weiss Syndrome

Genetic Tests for Jackson-Weiss Syndrome

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Jackson-Weiss Syndrome:

id Genetic test Affiliating Genes
1 Jackson-Weiss Syndrome20 22 FGFR2

Anatomical Context for Jackson-Weiss Syndrome

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Jackson-Weiss Syndrome:

33
Bone

Animal Models for Jackson-Weiss Syndrome or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Jackson-Weiss Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.5FGFR3, FGFR2
2MP:00028739.3FGFR3, FGFR2
3MP:00053778.7FGFR3, FGFR1, FGFR2
4MP:00053718.7FGFR3, FGFR1, FGFR2
5MP:00053828.7FGFR2, FGFR1, FGFR3
6MP:00030128.6FGFR3, FGFR1, FGFR2
7MP:00053818.6FGFR2, FGFR1, FGFR3
8MP:00053918.5FGFR3, FGFR1, FGFR2
9MP:00053908.4FGFR2, FGFR1, FGFR3
10MP:00107718.2FGFR3, FGFR1, FGFR2

Publications for Jackson-Weiss Syndrome

About this section
Sources:
52PubMed
See all sources

Articles related to Jackson-Weiss Syndrome:

idTitleAuthorsYear
1
Jackson-Weiss syndrome. (11343324)
2001
2
Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in &quot;lost&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 registered in four successive generations. The facies of Crouzon's syndrome with foot abnormalities. (7924855)
1994
7
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
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

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

64
id Symbol AA change Variation ID SNP ID
1FGFR2p.Cys278PheVAR_004121
2FGFR2p.Gln289ProVAR_004123
3FGFR2p.Cys342ArgVAR_004137
4FGFR2p.Cys342SerVAR_004138
5FGFR2p.Ala344GlyVAR_004140

Clinvar genetic disease variations for Jackson-Weiss Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
2FGFR2NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
3FGFR2NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly)single nucleotide variantPathogenicrs121918492GRCh37Chr 10, 123276886: 123276886
4FGFR2NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro)single nucleotide variantPathogenicrs121918497GRCh37Chr 10, 123279566: 123279566
5FGFR1NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg)single nucleotide variantPathogenicrs121909627GRCh37Chr 8, 38282208: 38282208

Expression for genes affiliated with Jackson-Weiss Syndrome

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Jackson-Weiss Syndrome

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

Pathways for genes affiliated with Jackson-Weiss Syndrome

About this section
Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 5Cell Signaling Technology, 54R&D Systems, 51PharmGKB, 57SinoBiological, 60Thomson Reuters, 61Tocris Bioscience
See all sources

Pathways related to Jackson-Weiss Syndrome according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3FGFR3, FGFR2
29.1FGFR3, FGFR1
3
Show member pathways
9.1FGFR1, FGFR3
49.0FGFR1, FGFR2
5
Show member pathways
8.5FGFR2, FGFR1, FGFR3
6
Show member pathways
8.5FGFR3, FGFR1, FGFR2
7
Show member pathways
8.5FGFR3, FGFR1, FGFR2
8
Show member pathways
8.5FGFR2, FGFR1, FGFR3
9
Show member pathways
8.5FGFR3, FGFR1, FGFR2
10
Show member pathways
8.5FGFR3, FGFR1, FGFR2
11
Show member pathways
8.5FGFR3, FGFR1, FGFR2
12
Show member pathways
8.5FGFR3, FGFR1, FGFR2
138.5FGFR2, FGFR1, FGFR3
14
Show member pathways
8.5FGFR2, FGFR1, FGFR3
15
Show member pathways
8.5FGFR3, FGFR1, FGFR2
168.5FGFR2, FGFR1, FGFR3
17
Show member pathways
8.5FGFR3, FGFR1, FGFR2
18
Show member pathways
8.5FGFR2, FGFR1, FGFR3
19
Show member pathways
8.5FGFR3, FGFR1, FGFR2
208.5FGFR3, FGFR1, FGFR2
21
Show member pathways
8.5FGFR3, FGFR1, FGFR2
22
Show member pathways
8.5FGFR2, FGFR1, FGFR3
23
Show member pathways
8.5FGFR2, FGFR1, FGFR3
24
Show member pathways
8.5FGFR2, FGFR1, FGFR3
258.5FGFR3, FGFR1, FGFR2
268.5FGFR3, FGFR1, FGFR2
278.5FGFR2, FGFR1, FGFR3
28
Show member pathways
8.5FGFR3, FGFR1, FGFR2
298.5FGFR2, FGFR1, FGFR3
30
Show member pathways
8.5FGFR3, FGFR1, FGFR2
31
Show member pathways
8.5FGFR3, FGFR1, FGFR2
32
Show member pathways
8.5FGFR2, FGFR1, FGFR3
33
Show member pathways
8.5FGFR3, FGFR1, FGFR2
34
Show member pathways
8.5FGFR3, FGFR1, FGFR2
35
Show member pathways
8.5FGFR2, FGFR1, FGFR3
36
Show member pathways
8.5FGFR3, FGFR1, FGFR2
37
Show member pathways
MAPK signaling pathway38
8.5FGFR3, FGFR1, FGFR2
38
Show member pathways
8.5FGFR3, FGFR1, FGFR2
39
Show member pathways
8.5FGFR3, FGFR1, FGFR2
40
Show member pathways
8.5FGFR2, FGFR1, FGFR3
41
Show member pathways
8.5FGFR3, FGFR1, FGFR2
42
Show member pathways
Signaling Pathways in Glioblastoma38
8.5FGFR3, FGFR1, FGFR2
43
Show member pathways
8.5FGFR3, FGFR1, FGFR2
44
Show member pathways
8.5FGFR2, FGFR1, FGFR3
458.5FGFR3, FGFR1, FGFR2

Compounds for genes affiliated with Jackson-Weiss Syndrome

About this section
Sources:
45Novoseek, 51PharmGKB, 61Tocris Bioscience, 11DrugBank, 24HMDB, 29IUPHAR
See all sources

Compounds related to Jackson-Weiss Syndrome according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1thalidomide45 51 61 1112.7FGFR2, FGFR3
2sulfate45 2410.6FGFR2, FGFR3
3guanine45 24 1111.5FGFR3, FGFR2
4pazopanib51 1110.5FGFR1, FGFR3
5imatinib45 51 1111.4FGFR3, FGFR1
6regorafenib51 1110.4FGFR2, FGFR1
7chondroitin sulfate45 2410.4FGFR2, FGFR1
8suramin45 29 1111.3FGFR1, FGFR2
9bromodeoxyuridine459.3FGFR1, FGFR2
10heparan sulfate45 2410.3FGFR1, FGFR2
11glyceraldehyde 3-phosphate459.3FGFR1, FGFR2
12agar459.2FGFR1, FGFR2
13ribonucleic acid459.1FGFR2, FGFR1
1412-o-tetradecanoylphorbol 13-acetate459.1FGFR1, FGFR2
15polysaccharide459.0FGFR1, FGFR2
16pd 98,059459.0FGFR1, FGFR2
17paclitaxel45 51 1110.9FGFR2, FGFR1
18su 5402618.9FGFR3, FGFR2, FGFR1
19pd 161570618.9FGFR2, FGFR1, FGFR3
20fiin 1 hydrochloride618.9FGFR2, FGFR1, FGFR3
21su5402458.9FGFR2, FGFR1, FGFR3
22pd 17307445 619.9FGFR3, FGFR1, FGFR2
23palifermin45 119.9FGFR2, FGFR1, FGFR3
24ponatinib51 119.9FGFR3, FGFR1, FGFR2
25phenylalanine458.9FGFR2, FGFR1, FGFR3
26phosphotyrosine458.9FGFR3, FGFR1, FGFR2
27lysine458.9FGFR3, FGFR1, FGFR2
28oligonucleotide458.9FGFR3, FGFR1, FGFR2
29vegf458.9FGFR2, FGFR1, FGFR3
30threonine458.9FGFR3, FGFR1, FGFR2
31glutamate458.9FGFR2, FGFR1, FGFR3
32cysteine458.8FGFR3, FGFR1, FGFR2
33lipid458.8FGFR2, FGFR1, FGFR3
34serine458.7FGFR2, FGFR1, FGFR3
35tyrosine458.7FGFR2, FGFR1, FGFR3
36calcium45 51 24 1111.2FGFR3, FGFR1, FGFR2

GO Terms for genes affiliated with Jackson-Weiss Syndrome

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Jackson-Weiss Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.5FGFR3, FGFR1, FGFR2
2cytoplasmic membrane-bounded vesicleGO:0160238.4FGFR3, FGFR1, FGFR2
3integral component of plasma membraneGO:0058878.2FGFR3, FGFR1, FGFR2

Biological processes related to Jackson-Weiss Syndrome according to GeneCards/GeneDecks:

(show all 38)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell developmentGO:0703079.7FGFR3, FGFR2
2negative regulation of mitosisGO:0458399.7FGFR3, FGFR2
3bone morphogenesisGO:0603499.7FGFR3, FGFR2
4negative regulation of epithelial cell proliferationGO:0506809.5FGFR2, FGFR3
5positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.5FGFR3, FGFR1
6positive regulation of canonical Wnt signaling pathwayGO:0902639.5FGFR3, FGFR2
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.4FGFR2, FGFR1
8ventricular zone neuroblast divisionGO:0218479.4FGFR2, FGFR1
9mesenchymal cell differentiationGO:0487629.4FGFR1, FGFR2
10chondrocyte differentiationGO:0020629.4FGFR1, FGFR3
11positive regulation of ERK1 and ERK2 cascadeGO:0703749.4FGFR3, FGFR2
12lung-associated mesenchyme developmentGO:0604849.4FGFR2, FGFR1
13branching involved in salivary gland morphogenesisGO:0604459.4FGFR1, FGFR2
14positive regulation of cardiac muscle cell proliferationGO:0600459.4FGFR1, FGFR2
15skeletal system morphogenesisGO:0487059.3FGFR1, FGFR2
16positive regulation of cell cycleGO:0457879.3FGFR2, FGFR1
17cell-cell signalingGO:0072679.3FGFR3, FGFR2
18midbrain developmentGO:0309019.3FGFR1, FGFR2
19positive regulation of mesenchymal cell proliferationGO:0020539.3FGFR1, FGFR2
20ureteric bud developmentGO:0016579.3FGFR2, FGFR1
21MAPK cascadeGO:0001659.2FGFR1, FGFR3
22inner ear morphogenesisGO:0424729.2FGFR1, FGFR2
23skeletal system developmentGO:0015019.1FGFR3, FGFR1
24angiogenesisGO:0015258.9FGFR2, FGFR1
25positive regulation of phospholipase activityGO:0105188.9FGFR3, FGFR1, FGFR2
26positive regulation of MAPK cascadeGO:0434108.9FGFR3, FGFR1, FGFR2
27peptidyl-tyrosine phosphorylationGO:0181088.9FGFR3, FGFR1, FGFR2
28phosphatidylinositol-mediated signalingGO:0480158.9FGFR3, FGFR1, FGFR2
29insulin receptor signaling pathwayGO:0082868.9FGFR2, FGFR1, FGFR3
30protein autophosphorylationGO:0467778.9FGFR3, FGFR1, FGFR2
31fibroblast growth factor receptor signaling pathwayGO:0085438.9FGFR2, FGFR1, FGFR3
32Fc-epsilon receptor signaling pathwayGO:0380958.9FGFR3, FGFR1, FGFR2
33epidermal growth factor receptor signaling pathwayGO:0071738.9FGFR2, FGFR1, FGFR3
34neurotrophin TRK receptor signaling pathwayGO:0480118.9FGFR2, FGFR1, FGFR3
35positive regulation of cell proliferationGO:0082848.8FGFR2, FGFR1, FGFR3
36negative regulation of transcription from RNA polymerase II promoterGO:0001228.8FGFR3, FGFR1, FGFR2
37in utero embryonic developmentGO:0017018.7FGFR1, FGFR2
38innate immune responseGO:0450878.7FGFR3, FGFR1, FGFR2

Molecular functions related to Jackson-Weiss Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082018.7FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050078.6FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.5FGFR3, FGFR1, FGFR2
4ATP bindingGO:0055248.5FGFR3, FGFR1, FGFR2
5protein tyrosine kinase activityGO:0047138.4FGFR2, FGFR1, FGFR3

Products for genes affiliated with Jackson-Weiss Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Jackson-Weiss Syndrome

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet