JWS
MCID: JCK001
MIFTS: 58

Jackson-Weiss Syndrome (JWS) malady

Bone diseases, Fetal diseases categories

Summaries for Jackson-Weiss Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 Nanog in Mammalian ESC Pluripotency and Endocytosis. The compounds thalidomide and sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

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:46 123150

Aliases & Classifications for Jackson-Weiss Syndrome

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63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
jackson-weiss syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

jackson-weiss syndrome 63 42 20 22 21 46 44 48 60
jws 63 42 21 48
craniosynostosis, midfacial hypoplasia, and foot abnormalities 42
craniosynostosis - midfacial hypoplasia - foot abnormalities 48


External Ids:

OMIM46 123150
MESH via Orphanet35 C537559
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C0795998

Related Diseases for Jackson-Weiss Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Jackson-Weiss Syndrome:



Diseases related to jackson-weiss syndrome

Clinical Features for Jackson-Weiss Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

123150

Clinical synopsis from OMIM:

123150

Symptoms:

48 (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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Jackson-Weiss Syndrome

Drug clinical trials:

Search ClinicalTrials for Jackson-Weiss Syndrome

Search NIH Clinical Center for Jackson-Weiss Syndrome

Search CenterWatch for Jackson-Weiss Syndrome

Genetic Tests for Jackson-Weiss Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Jackson-Weiss Syndrome:

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

Anatomical Context for Jackson-Weiss Syndrome

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32MalaCards
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MalaCards organs/tissues related to Jackson-Weiss Syndrome:

32
Bone

Animal Models for Jackson-Weiss Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Jackson-Weiss Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7FGFR3, FGFR1, FGFR2
2MP:00053718.7FGFR3, FGFR1, FGFR2
3MP:00053828.7FGFR2, FGFR1, FGFR3
4MP:00053678.6FGFR3, FGFR1, FGFR2
5MP:00030128.6FGFR2, FGFR1, FGFR3
6MP:00053818.5FGFR3, FGFR1, FGFR2
7MP:00107718.5FGFR3, FGFR1, FGFR2
8MP:00053918.4FGFR2, FGFR1, FGFR3
9MP:00053908.2FGFR3, FGFR1, FGFR2

Publications for Jackson-Weiss Syndrome

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50PubMed
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Articles related to Jackson-Weiss Syndrome:

(show all 11)
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
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. (8644708)
1996
5
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. (8528214)
1995
6
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. (7581378)
1995
7
Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. (8188211)
1994
8
Jackson-Weiss syndrome registered in four successive generations. The facies of Crouzon's syndrome with foot abnormalities. (7924855)
1994
9
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. (7874170)
1994
10
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
11
Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter. (8092187)
1994

Genetic Variations for Jackson-Weiss Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Jackson-Weiss Syndrome:

62
id Symbol AA change Variation ID SNP ID
1FGFR2p.Cys278PheVAR_004121
2FGFR2p.Gln289ProVAR_004123
3FGFR2p.Cys342ArgVAR_004137
4FGFR2p.Cys342SerVAR_004138
5FGFR2p.Ala344GlyVAR_004140

Expression for genes affiliated with Jackson-Weiss Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 53Reactome, 4Cell Signaling Technology, 52R&D Systems, 49PharmGKB, 12EMD Millipore, 59Tocris Bioscience
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Pathways related to Jackson-Weiss Syndrome according to GeneCards/GeneDecks:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0FGFR3
29.3FGFR3, FGFR2
39.1FGFR3, FGFR1
49.0FGFR1, FGFR2
5
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8.5FGFR3, FGFR1, FGFR2
6
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8.5FGFR2, FGFR1, FGFR3
7
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8.5FGFR3, FGFR1, FGFR2
88.5FGFR2, FGFR1, FGFR3
98.5FGFR3, FGFR1, FGFR2
10
Hide members
8.5FGFR3, FGFR1, FGFR2
11
Hide members
8.5FGFR2, FGFR1, FGFR3
12
Hide members
8.5FGFR3, FGFR1, FGFR2
13
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8.5FGFR3, FGFR1, FGFR2
14
Hide members
8.5FGFR2, FGFR1, FGFR3
15
Hide members
8.5FGFR3, FGFR1, FGFR2
168.5FGFR2, FGFR1, FGFR3
17
Hide members
8.5FGFR3, FGFR1, FGFR2
18
Hide members
8.5FGFR3, FGFR1, FGFR2
19
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8.5FGFR3, FGFR1, FGFR2
20
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8.5FGFR2, FGFR1, FGFR3
21
Hide members
8.5FGFR2, FGFR1, FGFR3
22
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8.5FGFR3, FGFR1, FGFR2
238.5FGFR3, FGFR1, FGFR2
248.5FGFR3, FGFR1, FGFR2
25
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8.5FGFR2, FGFR1, FGFR3
268.5FGFR3, FGFR1, FGFR2
278.5FGFR2, FGFR1, FGFR3
288.5FGFR3, FGFR1, FGFR2
29
Hide members
8.5FGFR3, FGFR1, FGFR2
30
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8.5FGFR2, FGFR1, FGFR3
31
Hide members
8.5FGFR3, FGFR1, FGFR2
32
Development FGF-family signaling
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8.5FGFR2, FGFR1, FGFR3
33
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8.5FGFR3, FGFR1, FGFR2
34
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8.5FGFR3, FGFR1, FGFR2
35
Hide members
8.5FGFR2, FGFR1, FGFR3
36
Hide members
8.5FGFR3, FGFR1, FGFR2
37
Hide members
8.5FGFR2, FGFR1, FGFR3
38
Hide members
8.5FGFR3, FGFR1, FGFR2
39
Hide members
8.5FGFR2, FGFR1, FGFR3
40
Hide members
8.5FGFR3, FGFR1, FGFR2
41
Hide members
8.5FGFR2, FGFR1, FGFR3
42
Hide members
8.5FGFR3, FGFR1, FGFR2
438.5FGFR3, FGFR1, FGFR2

Compounds for genes affiliated with Jackson-Weiss Syndrome

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44Novoseek, 49PharmGKB, 59Tocris Bioscience, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Jackson-Weiss Syndrome according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1thalidomide44 49 59 1112.6FGFR3, FGFR2
2sulfate44 2410.5FGFR3, FGFR2
3SU4984119.4FGFR1, FGFR2
4Regorafenib119.3FGFR1, FGFR2
5guanine44 11 2411.3FGFR3, FGFR2
6chondroitin sulfate44 2410.3FGFR1, FGFR2
7suramin44 28 1111.2FGFR2, FGFR1
8bromodeoxyuridine449.1FGFR1, FGFR2
9imatinib44 49 1111.1FGFR1, FGFR3
10heparan sulfate44 249.9FGFR1, FGFR2
11su 5402598.9FGFR3, FGFR2, FGFR1
12pd 161570598.9FGFR2, FGFR1, FGFR3
13fiin 1 hydrochloride598.9FGFR2, FGFR1, FGFR3
14su5402448.9FGFR2, FGFR1, FGFR3
15pd 17307444 599.9FGFR3, FGFR1, FGFR2
16palifermin44 119.9FGFR2, FGFR1, FGFR3
17Ponatinib 118.8FGFR3, FGFR1, FGFR2
18phenylalanine448.8FGFR2, FGFR1, FGFR3
19phosphotyrosine448.8FGFR3, FGFR1, FGFR2
20lysine448.8FGFR2, FGFR1, FGFR3
21oligonucleotide448.8FGFR3, FGFR1, FGFR2
22vegf448.8FGFR3, FGFR1, FGFR2
23threonine448.8FGFR2, FGFR1, FGFR3
24glyceraldehyde 3-phosphate448.7FGFR1, FGFR2
25cysteine448.7FGFR3, FGFR1, FGFR2
26lipid448.6FGFR3, FGFR1, FGFR2

GO Terms for genes affiliated with Jackson-Weiss Syndrome

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16Gene Ontology
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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 to plasma membraneGO:0058878.2FGFR3, FGFR1, FGFR2

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

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of mitosisGO:0458399.7FGFR3, FGFR2
2lens fiber cell developmentGO:0703079.7FGFR2, FGFR3
3bone morphogenesisGO:0603499.7FGFR2, FGFR3
4positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.5FGFR3, FGFR1
5positive regulation of canonical Wnt receptor signaling pathwayGO:0902639.5FGFR3, FGFR2
6fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.4FGFR1, FGFR2
7ventricular zone neuroblast divisionGO:0218479.4FGFR2, FGFR1
8mesenchymal cell differentiationGO:0487629.4FGFR1, FGFR2
9chondrocyte differentiationGO:0020629.4FGFR1, FGFR3
10lung-associated mesenchyme developmentGO:0604849.4FGFR1, FGFR2
11branching involved in salivary gland morphogenesisGO:0604459.4FGFR2, FGFR1
12positive regulation of cardiac muscle cell proliferationGO:0600459.3FGFR2, FGFR1
13skeletal system morphogenesisGO:0487059.3FGFR2, FGFR1
14positive regulation of ERK1 and ERK2 cascadeGO:0703749.3FGFR3, FGFR2
15positive regulation of cell cycleGO:0457879.3FGFR2, FGFR1
16midbrain developmentGO:0309019.3FGFR2, FGFR1
17positive regulation of mesenchymal cell proliferationGO:0020539.3FGFR1, FGFR2
18ureteric bud developmentGO:0016579.3FGFR2, FGFR1
19MAPK cascadeGO:0001659.2FGFR3, FGFR1
20inner ear morphogenesisGO:0424729.1FGFR2, FGFR1
21skeletal system developmentGO:0015019.0FGFR1, FGFR3
22in utero embryonic developmentGO:0017019.0FGFR1, FGFR2
23positive regulation of phospholipase activityGO:0105188.9FGFR3, FGFR1, FGFR2
24peptidyl-tyrosine phosphorylationGO:0181088.9FGFR3, FGFR1, FGFR2
25positive regulation of MAPK cascadeGO:0434108.9FGFR2, FGFR1, FGFR3
26phosphatidylinositol-mediated signalingGO:0480158.9FGFR3, FGFR1, FGFR2
27insulin receptor signaling pathwayGO:0082868.9FGFR2, FGFR1, FGFR3
28protein autophosphorylationGO:0467778.9FGFR2, FGFR1, FGFR3
29fibroblast growth factor receptor signaling pathwayGO:0085438.9FGFR3, FGFR1, FGFR2
30Fc-epsilon receptor signaling pathwayGO:0380958.9FGFR3, FGFR1, FGFR2
31epidermal growth factor receptor signaling pathwayGO:0071738.9FGFR2, FGFR1, FGFR3
32neurotrophin TRK receptor signaling pathwayGO:0480118.8FGFR3, FGFR1, FGFR2
33positive regulation of cell proliferationGO:0082848.8FGFR3, FGFR1, FGFR2
34angiogenesisGO:0015258.7FGFR1, FGFR2
35negative regulation of transcription from RNA polymerase II promoterGO:0001228.7FGFR3, FGFR1, FGFR2
36innate immune responseGO:0450878.7FGFR2, FGFR1, FGFR3

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

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Sources for Jackson-Weiss Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet