MCID: JCK001
MIFTS: 49

Jackson-Weiss Syndrome malady

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

Aliases & Classifications for Jackson-Weiss Syndrome

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Sources:
49OMIM, 11diseasecard, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Jackson-Weiss Syndrome:

Name: Jackson-Weiss Syndrome 49 11 68 45 22 23 47 51 24 65 67
Jws 68 45 23 51 67
Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities 45
 
Craniosynostosis - Midfacial Hypoplasia - Foot Abnormalities 51
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
jackson-weiss syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

OMIM49 123150
Orphanet51 1540
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C537559
UMLS via Orphanet66 C0795998
MedGen34 C0795998

Summaries for Jackson-Weiss Syndrome

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NIH Rare Diseases:45 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 malar flattening, hypertelorism and toe syndactyly. An important gene associated with Jackson-Weiss Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways are FGFR3 mutant receptor activation and Endochondral Ossification. Affiliated tissues include bone, and related mouse phenotypes are no phenotypic analysis and hearing/vestibular/ear.

Genetics Home Reference:23 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:67 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:49 123150

Related Diseases for Jackson-Weiss Syndrome

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1crouzon syndrome30.1FGFR1, FGFR2, FGFR3
2saethre-chotzen syndrome30.1FGFR1, FGFR2, FGFR3
3craniosynostosis10.3
4burns10.1
5ulnar neuropathy10.1
6paramyloidosis10.1
7myeloma10.1
8neuropathy10.1
9spinal shock10.1
10transposition of the great arteries10.1
11von economo's disease10.0FGFR2, FGFR3
12beare-stevenson cutis gyrata syndrome10.0FGFR2, FGFR3
13barbiturate abuse10.0FGFR2, FGFR3
14gonococcal iridocyclitis10.0FGFR2, FGFR3
15slc16a1-related hyperinsulinism10.0FGFR2, FGFR3
16multiple symmetrical lipomatosis10.0FGFR2, FGFR3
17central retinal artery occlusion10.0FGFR2, FGFR3
18synovial chondromatosis, familial with dwarfism9.9FGFR1, FGFR3
19osteodysplasia familial anderson type9.9FGFR1, FGFR3
20pfeiffer syndrome type 1, 2 and 39.9FGFR1, FGFR2
21gliosarcoma9.9FGFR1, FGFR3
22syndromic intellectual disability9.9FGFR2, FGFR3
23autosomal genetic disease9.9FGFR2, FGFR3
24spinocerebellar ataxia 59.9FGFR1, FGFR2
25grade iii astrocytoma9.8FGFR1, FGFR3
26lupus erythematosus9.8FGFR1, FGFR2
27myasthenic syndrome, congenital, 2a, slow-channel9.8FGFR1, FGFR2
28flna-related periventricular nodular heterotopia9.7FGFR1, FGFR2, FGFR3
29dystonia9.7FGFR1, FGFR2
30plagiocephaly and x-linked mental retardation9.7FGFR1, FGFR2, FGFR3
31osteoglophonic dysplasia9.7FGFR1, FGFR2, FGFR3
32muenke syndrome9.7FGFR1, FGFR2, FGFR3
33jackson-weiss syndrome9.7FGFR1, FGFR2, FGFR3
34neonatal abstinence syndrome9.7FGFR1, FGFR2, FGFR3
35testicular brenner tumor9.7FGFR1, FGFR2, FGFR3
36acrodermatitis9.7FGFR1, FGFR2, FGFR3
37thanatophoric dysplasia, type i9.7FGFR1, FGFR2, FGFR3
38apert syndrome9.7FGFR1, FGFR2, FGFR3
39hypochondroplasia9.7FGFR1, FGFR2, FGFR3
40yellow nail syndrome9.7FGFR1, FGFR2, FGFR3
41achondroplasia9.7FGFR1, FGFR2, FGFR3
42ladd syndrome9.7FGFR1, FGFR2, FGFR3
43pfeiffer syndrome9.7FGFR1, FGFR2, FGFR3
44synovitis9.7FGFR1, FGFR2, FGFR3
45bone ewing's sarcoma9.7FGFR1, FGFR2, FGFR3
46critical limb ischemia9.7FGFR1, FGFR2, FGFR3
47asphyxiating thoracic dystrophy9.6FGFR1, FGFR2

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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Symptoms by clinical synopsis from OMIM:

123150

Clinical features from OMIM:

123150

Symptoms:

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

HPO human phenotypes related to Jackson-Weiss Syndrome:

(show all 28)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 hypertelorism hallmark (90%) HP:0000316
3 toe syndactyly hallmark (90%) HP:0001770
4 preaxial foot polydactyly hallmark (90%) HP:0001841
5 tarsal synostosis hallmark (90%) HP:0008368
6 abnormality of the palate typical (50%) HP:0000174
7 mandibular prognathia typical (50%) HP:0000303
8 convex nasal ridge typical (50%) HP:0000444
9 strabismus typical (50%) HP:0000486
10 ptosis typical (50%) HP:0000508
11 proptosis typical (50%) HP:0000520
12 frontal bossing typical (50%) HP:0002007
13 underdeveloped supraorbital ridges typical (50%) HP:0009891
14 split foot occasional (7.5%) HP:0001839
15 preaxial foot polydactyly occasional (7.5%) HP:0001841
16 abnormality of the fibula occasional (7.5%) HP:0002991
17 finger syndactyly occasional (7.5%) HP:0006101
18 symphalangism affecting the phalanges of the hand occasional (7.5%) HP:0009773
19 autosomal dominant inheritance HP:0000006
20 malar flattening HP:0000272
21 craniosynostosis HP:0001363
22 broad metatarsal HP:0001783
23 2-3 toe syndactyly HP:0004691
24 hallux varus HP:0008080
25 calcaneonavicular fusion HP:0008122
26 broad hallux HP:0010055
27 short metatarsal HP:0010743
28 hypoplasia of midface HP:0011800

Drugs & Therapeutics for Jackson-Weiss Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Jackson-Weiss Syndrome

Genetic Tests for Jackson-Weiss Syndrome

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Genetic tests related to Jackson-Weiss Syndrome:

id Genetic test Affiliating Genes
1 Jackson-Weiss Syndrome22 24 FGFR2

Anatomical Context for Jackson-Weiss Syndrome

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MalaCards organs/tissues related to Jackson-Weiss Syndrome:

33
Bone

Animal Models for Jackson-Weiss Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Jackson-Weiss Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.8FGFR1, FGFR2, FGFR3
2MP:00053778.8FGFR1, FGFR2, FGFR3
3MP:00053828.8FGFR1, FGFR2, FGFR3
4MP:00053718.7FGFR1, FGFR2, FGFR3
5MP:00053818.7FGFR1, FGFR2, FGFR3
6MP:00053678.6FGFR1, FGFR2, FGFR3
7MP:00053918.6FGFR1, FGFR2, FGFR3

Publications for Jackson-Weiss Syndrome

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

67
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:

5
id Gene Variation 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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Search GEO for disease gene expression data for Jackson-Weiss Syndrome.

Pathways for genes affiliated with Jackson-Weiss Syndrome

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

(show all 37)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3FGFR2, FGFR3
29.1FGFR1, FGFR3
39.0FGFR1, FGFR2
48.5FGFR1, FGFR2, FGFR3
5
Show member pathways
8.5FGFR1, FGFR2, FGFR3
6
Show member pathways
8.5FGFR1, FGFR2, FGFR3
7
Show member pathways
8.5FGFR1, FGFR2, FGFR3
8
Show member pathways
8.5FGFR1, FGFR2, FGFR3
9
Show member pathways
8.5FGFR1, FGFR2, FGFR3
10
Show member pathways
8.5FGFR1, FGFR2, FGFR3
11
Show member pathways
8.5FGFR1, FGFR2, FGFR3
12
Show member pathways
8.5FGFR1, FGFR2, FGFR3
13
Show member pathways
8.5FGFR1, FGFR2, FGFR3
14
Show member pathways
8.5FGFR1, FGFR2, FGFR3
15
Show member pathways
8.5FGFR1, FGFR2, FGFR3
16
Show member pathways
8.5FGFR1, FGFR2, FGFR3
17
Show member pathways
8.5FGFR1, FGFR2, FGFR3
18
Show member pathways
8.5FGFR1, FGFR2, FGFR3
198.5FGFR1, FGFR2, FGFR3
208.5FGFR1, FGFR2, FGFR3
21
Show member pathways
8.5FGFR1, FGFR2, FGFR3
228.5FGFR1, FGFR2, FGFR3
23
Show member pathways
8.5FGFR1, FGFR2, FGFR3
24
Angiogenesis (CST)
Show member pathways
8.5FGFR1, FGFR2, FGFR3
258.5FGFR1, FGFR2, FGFR3
268.5FGFR1, FGFR2, FGFR3
278.5FGFR1, FGFR2, FGFR3
28
Show member pathways
8.5FGFR1, FGFR2, FGFR3
298.5FGFR1, FGFR2, FGFR3
30
Show member pathways
8.5FGFR1, FGFR2, FGFR3
318.5FGFR1, FGFR2, FGFR3
32
Show member pathways
8.5FGFR1, FGFR2, FGFR3
33
Show member pathways
8.5FGFR1, FGFR2, FGFR3
34
Show member pathways
8.5FGFR1, FGFR2, FGFR3
35
Show member pathways
8.5FGFR1, FGFR2, FGFR3
36
Show member pathways
8.5FGFR1, FGFR2, FGFR3
378.5FGFR1, FGFR2, FGFR3

GO Terms for genes affiliated with Jackson-Weiss Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:00160239.0FGFR1, FGFR2
2integral component of plasma membraneGO:00058878.2FGFR1, FGFR2, FGFR3

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

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell developmentGO:007030710.0FGFR2, FGFR3
2negative regulation of mitotic nuclear divisionGO:004583910.0FGFR2, FGFR3
3positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:00900809.9FGFR1, FGFR3
4positive regulation of canonical Wnt signaling pathwayGO:00902639.9FGFR2, FGFR3
5bone morphogenesisGO:00603499.8FGFR2, FGFR3
6orbitofrontal cortex developmentGO:00217699.8FGFR1, FGFR2
7ventricular zone neuroblast divisionGO:00218479.8FGFR1, FGFR2
8fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
9positive regulation of ERK1 and ERK2 cascadeGO:00703749.8FGFR2, FGFR3
10bone mineralizationGO:00302829.7FGFR2, FGFR3
11positive regulation of mesenchymal cell proliferationGO:00020539.7FGFR1, FGFR2
12positive regulation of cardiac muscle cell proliferationGO:00600459.7FGFR1, FGFR2
13midbrain developmentGO:00309019.7FGFR1, FGFR2
14lung-associated mesenchyme developmentGO:00604849.7FGFR1, FGFR2
15positive regulation of cell cycleGO:00457879.7FGFR1, FGFR2
16mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
17branching involved in salivary gland morphogenesisGO:00604459.7FGFR1, FGFR2
18ureteric bud developmentGO:00016579.6FGFR1, FGFR2
19lung developmentGO:00303249.5FGFR1, FGFR2
20chondrocyte differentiationGO:00020629.4FGFR1, FGFR3
21skeletal system developmentGO:00015019.4FGFR1, FGFR3
22inner ear morphogenesisGO:00424729.3FGFR1, FGFR2
23skeletal system morphogenesisGO:00487059.3FGFR1, FGFR2
24positive regulation of MAPK cascadeGO:00434109.1FGFR1, FGFR2, FGFR3
25phosphatidylinositol-mediated signalingGO:00480159.1FGFR1, FGFR2, FGFR3
26positive regulation of phospholipase activityGO:00105189.1FGFR1, FGFR2, FGFR3
27protein autophosphorylationGO:00467779.0FGFR1, FGFR2, FGFR3
28positive regulation of cell proliferationGO:00082849.0FGFR1, FGFR2, FGFR3
29protein phosphorylationGO:00064688.9FGFR1, FGFR2, FGFR3
30peptidyl-tyrosine phosphorylationGO:00181088.9FGFR1, FGFR2, FGFR3
31MAPK cascadeGO:00001658.9FGFR1, FGFR2, FGFR3
32activation of MAPKK activityGO:00001868.9FGFR1, FGFR2, FGFR3
33Ras protein signal transductionGO:00072658.9FGFR1, FGFR2, FGFR3
34insulin receptor signaling pathwayGO:00082868.9FGFR1, FGFR2, FGFR3
35fibroblast growth factor receptor signaling pathwayGO:00085438.9FGFR1, FGFR2, FGFR3
36Fc-epsilon receptor signaling pathwayGO:00380958.9FGFR1, FGFR2, FGFR3
37neurotrophin TRK receptor signaling pathwayGO:00480118.9FGFR1, FGFR2, FGFR3
38epidermal growth factor receptor signaling pathwayGO:00071738.7FGFR1, FGFR2, FGFR3
39axon guidanceGO:00074118.6FGFR1, FGFR2, FGFR3
40innate immune responseGO:00450878.5FGFR1, FGFR2, FGFR3
41negative regulation of transcription from RNA polymerase II promoterGO:00001228.5FGFR1, FGFR2, FGFR3
42vascular endothelial growth factor receptor signaling pathwayGO:00480108.4FGFR1, FGFR2, FGFR3
43small GTPase mediated signal transductionGO:00072648.2FGFR1, FGFR2, FGFR3

Molecular functions related to Jackson-Weiss Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082019.2FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:00050079.1FGFR1, FGFR2, FGFR3
3fibroblast growth factor bindingGO:00171349.0FGFR1, FGFR2, FGFR3
4protein tyrosine kinase activityGO:00047138.5FGFR1, FGFR2, FGFR3
5protein kinase activityGO:00046728.2FGFR1, FGFR2, FGFR3

Sources for Jackson-Weiss Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet