JWS
MCID: JCK001
MIFTS: 57

Jackson-Weiss Syndrome (JWS) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Jackson-Weiss Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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:22 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:48 123150

Aliases & Classifications for Jackson-Weiss Syndrome

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66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
jackson-weiss syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

jackson-weiss syndrome 66 44 21 23 22 48 46 50 63
jws 66 44 22 50
craniosynostosis, midfacial hypoplasia, and foot abnormalities 44
craniosynostosis - midfacial hypoplasia - foot abnormalities 50


External Ids:

OMIM48 123150
MESH via Orphanet37 C537559
ICD10 via Orphanet27 Q87.8
UMLS via Orphanet64 C0795998

Related Diseases for Jackson-Weiss Syndrome

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18GeneCards, 19GeneDecks
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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

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

123150

Clinical features from OMIM:

123150

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Jackson-Weiss Syndrome:

id Genetic test Affiliating Genes
1 Jackson-Weiss Syndrome21 23 FGFR2

Anatomical Context for Jackson-Weiss Syndrome

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34MalaCards
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MalaCards organs/tissues related to Jackson-Weiss Syndrome:

34
Bone

Animal Models for Jackson-Weiss Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Jackson-Weiss Syndrome:

38
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

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53PubMed
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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

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Jackson-Weiss Syndrome:

65
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

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2BioGPS, 16Gene 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:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 5Cell Signaling Technology, 55R&D Systems, 52PharmGKB, 58SinoBiological, 61Thomson Reuters, 62Tocris Bioscience
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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 pathway39
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 Glioblastoma39
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

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46Novoseek, 52PharmGKB, 62Tocris Bioscience, 12DrugBank, 25HMDB, 30IUPHAR
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Compounds related to Jackson-Weiss Syndrome according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1thalidomide46 52 62 1212.7FGFR2, FGFR3
2sulfate46 2510.6FGFR2, FGFR3
3guanine46 25 1211.5FGFR3, FGFR2
4pazopanib52 1210.5FGFR1, FGFR3
5imatinib46 52 1211.4FGFR3, FGFR1
6regorafenib52 1210.4FGFR2, FGFR1
7chondroitin sulfate46 2510.4FGFR2, FGFR1
8suramin46 30 1211.3FGFR1, FGFR2
9bromodeoxyuridine469.3FGFR1, FGFR2
10heparan sulfate46 2510.3FGFR1, FGFR2
11glyceraldehyde 3-phosphate469.3FGFR1, FGFR2
12agar469.2FGFR1, FGFR2
13ribonucleic acid469.1FGFR2, FGFR1
1412-o-tetradecanoylphorbol 13-acetate469.1FGFR1, FGFR2
15polysaccharide469.0FGFR1, FGFR2
16pd 98,059469.0FGFR1, FGFR2
17paclitaxel46 52 1210.9FGFR2, FGFR1
18su 5402628.9FGFR3, FGFR2, FGFR1
19pd 161570628.9FGFR2, FGFR1, FGFR3
20fiin 1 hydrochloride628.9FGFR2, FGFR1, FGFR3
21su5402468.9FGFR2, FGFR1, FGFR3
22pd 17307446 629.9FGFR3, FGFR1, FGFR2
23palifermin46 129.9FGFR2, FGFR1, FGFR3
24ponatinib52 129.9FGFR3, FGFR1, FGFR2
25phenylalanine468.9FGFR2, FGFR1, FGFR3
26phosphotyrosine468.9FGFR3, FGFR1, FGFR2
27lysine468.9FGFR3, FGFR1, FGFR2
28oligonucleotide468.9FGFR3, FGFR1, FGFR2
29vegf468.9FGFR2, FGFR1, FGFR3
30threonine468.9FGFR3, FGFR1, FGFR2
31glutamate468.9FGFR2, FGFR1, FGFR3
32cysteine468.8FGFR3, FGFR1, FGFR2
33lipid468.8FGFR2, FGFR1, FGFR3
34serine468.7FGFR2, FGFR1, FGFR3
35tyrosine468.7FGFR2, FGFR1, FGFR3
36calcium46 52 25 1211.2FGFR3, FGFR1, FGFR2

GO Terms for genes affiliated with Jackson-Weiss Syndrome

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17Gene 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 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

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Sources for Jackson-Weiss Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet