MCID: JCK001
MIFTS: 52

Jackson-Weiss Syndrome malady

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

Summaries for Jackson-Weiss Syndrome

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NIH Rare Diseases:41 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 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:45 123150

Aliases & Classifications for Jackson-Weiss Syndrome

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Sources:
45OMIM, 10diseasecard, 63Wikipedia, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Jackson-Weiss Syndrome, Aliases & Descriptions:

Name: Jackson-Weiss Syndrome 45 10 63 41 20 21 43 47 22 60
Jws 63 41 21 47
 
Craniosynostosis - Midfacial Hypoplasia - Foot Abnormalities 41 47
Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
jackson-weiss syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

OMIM45 123150
Orphanet47 1540
MESH via Orphanet34 C537559
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C0795998

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 44)
idRelated DiseaseScoreTop Affiliating Genes
1crouzon syndrome30.1FGFR1, FGFR3, FGFR2
2saethre-chotzen syndrome30.1FGFR2, FGFR3, FGFR1
3craniosynostosis30.1FGFR2, FGFR1, FGFR3
4myeloma29.8FGFR3, FGFR1
5osteochondroma10.4FGFR3
6beare-stevenson cutis gyrata syndrome10.3FGFR2
7antley-bixler syndrome10.3FGFR2
8osteoglophonic dysplasia10.3FGFR1
9achondroplasia10.1FGFR2, FGFR3
10ladd syndrome10.1FGFR2, FGFR3
11strabismus10.1FGFR2, FGFR3
12thanatophoric dysplasia, type i10.1FGFR3, FGFR2
13acanthosis nigricans10.1FGFR2, FGFR3
14syndactyly10.1FGFR2, FGFR3
15transitional cell carcinoma10.1FGFR3, FGFR2
16bladder cancer, somatic10.0FGFR3, FGFR2
17burns10.0
18ulnar neuropathy10.0
19paramyloidosis10.0
20neuropathy10.0
21spinal shock10.0
22skin disease10.0FGFR2, FGFR3
23pfeiffer syndrome10.0FGFR2, FGFR1
24prostatic hypertrophy10.0FGFR1, FGFR2
25cleft palate, isolated10.0FGFR2, FGFR1
26embryonal cancer9.9FGFR2, FGFR1
27stomach cancer9.9FGFR1, FGFR2
28prostate cancer9.8FGFR1, FGFR2
29primary hyperoxaluria9.8FGFR2, FGFR1
30fgfr-related craniosynostosis syndromes9.8FGFR3, FGFR2, FGFR1
31muenke syndrome9.8FGFR1, FGFR3, FGFR2
32apert syndrome9.8FGFR2, FGFR1, FGFR3
33hypochondroplasia9.8FGFR2, FGFR3, FGFR1
34acrocephalosyndactylia9.8FGFR2, FGFR1, FGFR3
35synostosis9.8FGFR1, FGFR2, FGFR3
36skeletal dysplasia multi-gene panels9.8FGFR3, FGFR1, FGFR2
37dwarfism9.8FGFR2, FGFR1, FGFR3
38developmental disabilities9.8FGFR2, FGFR3, FGFR1
39chondrosarcoma9.8FGFR1, FGFR3, FGFR2
40colorectal cancer9.7FGFR3, FGFR2, FGFR1
41melanoma9.7FGFR2, FGFR3, FGFR1
42leukemia9.7FGFR3, FGFR1, FGFR2
43astrocytoma9.7FGFR1, FGFR2
44breast cancer9.7FGFR3, 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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Symptoms by clinical synopsis from OMIM:

123150

Clinical features from OMIM:

123150

Symptoms:

 47 (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 midface retrusion HP:0011800

Drugs & Therapeutics for Jackson-Weiss Syndrome

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Drug clinical trials:

Search ClinicalTrials for Jackson-Weiss Syndrome

Search 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 Syndrome20 22 FGFR2

Anatomical Context for Jackson-Weiss Syndrome

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MalaCards organs/tissues related to Jackson-Weiss Syndrome:

31
Bone

Animal Models for Jackson-Weiss Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Jackson-Weiss Syndrome:

35
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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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:

62
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:

6
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 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 pathway36
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 Glioblastoma36
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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Compounds related to Jackson-Weiss Syndrome according to GeneCards Suite gene sharing:

(show all 36)
idCompoundScoreTop Affiliating Genes
1thalidomide43 49 59 1212.7FGFR2, FGFR3
2sulfate43 2410.6FGFR2, FGFR3
3guanine43 24 1211.5FGFR3, FGFR2
4pazopanib49 1210.5FGFR1, FGFR3
5imatinib43 49 1211.4FGFR3, FGFR1
6regorafenib49 1210.4FGFR2, FGFR1
7chondroitin sulfate43 2410.4FGFR2, FGFR1
8suramin43 28 1211.3FGFR1, FGFR2
9bromodeoxyuridine439.3FGFR1, FGFR2
10heparan sulfate43 2410.3FGFR1, FGFR2
11glyceraldehyde 3-phosphate439.3FGFR1, FGFR2
12agar439.2FGFR1, FGFR2
13ribonucleic acid439.1FGFR2, FGFR1
1412-o-tetradecanoylphorbol 13-acetate439.1FGFR1, FGFR2
15polysaccharide439.0FGFR1, FGFR2
16pd 98,059439.0FGFR1, FGFR2
17paclitaxel43 49 1210.9FGFR2, FGFR1
18su 5402598.9FGFR3, FGFR2, FGFR1
19pd 161570598.9FGFR2, FGFR1, FGFR3
20fiin 1 hydrochloride598.9FGFR2, FGFR1, FGFR3
21su5402438.9FGFR2, FGFR1, FGFR3
22pd 17307443 599.9FGFR3, FGFR1, FGFR2
23palifermin43 129.9FGFR2, FGFR1, FGFR3
24ponatinib49 129.9FGFR3, FGFR1, FGFR2
25phenylalanine438.9FGFR2, FGFR1, FGFR3
26phosphotyrosine438.9FGFR3, FGFR1, FGFR2
27lysine438.9FGFR3, FGFR1, FGFR2
28oligonucleotide438.9FGFR3, FGFR1, FGFR2
29vegf438.9FGFR2, FGFR1, FGFR3
30threonine438.9FGFR3, FGFR1, FGFR2
31glutamate438.9FGFR2, FGFR1, FGFR3
32cysteine438.8FGFR3, FGFR1, FGFR2
33lipid438.8FGFR2, FGFR1, FGFR3
34serine438.7FGFR2, FGFR1, FGFR3
35tyrosine438.7FGFR2, FGFR1, FGFR3
36calcium43 49 24 1211.2FGFR3, FGFR1, FGFR2

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
1extracellular regionGO:00055768.5FGFR3, FGFR1, FGFR2
2cytoplasmic membrane-bounded vesicleGO:00160238.4FGFR3, FGFR1, FGFR2
3integral component of plasma membraneGO:00058878.2FGFR3, FGFR1, FGFR2

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

(show all 38)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell developmentGO:00703079.7FGFR3, FGFR2
2negative regulation of mitosisGO:00458399.7FGFR3, FGFR2
3bone morphogenesisGO:00603499.7FGFR3, FGFR2
4negative regulation of epithelial cell proliferationGO:00506809.5FGFR2, FGFR3
5positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:00900809.5FGFR3, FGFR1
6positive regulation of canonical Wnt signaling pathwayGO:00902639.5FGFR3, FGFR2
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.4FGFR2, FGFR1
8ventricular zone neuroblast divisionGO:00218479.4FGFR2, FGFR1
9mesenchymal cell differentiationGO:00487629.4FGFR1, FGFR2
10chondrocyte differentiationGO:00020629.4FGFR1, FGFR3
11positive regulation of ERK1 and ERK2 cascadeGO:00703749.4FGFR3, FGFR2
12lung-associated mesenchyme developmentGO:00604849.4FGFR2, FGFR1
13branching involved in salivary gland morphogenesisGO:00604459.4FGFR1, FGFR2
14positive regulation of cardiac muscle cell proliferationGO:00600459.4FGFR1, FGFR2
15skeletal system morphogenesisGO:00487059.3FGFR1, FGFR2
16positive regulation of cell cycleGO:00457879.3FGFR2, FGFR1
17cell-cell signalingGO:00072679.3FGFR3, FGFR2
18midbrain developmentGO:00309019.3FGFR1, FGFR2
19positive regulation of mesenchymal cell proliferationGO:00020539.3FGFR1, FGFR2
20ureteric bud developmentGO:00016579.3FGFR2, FGFR1
21MAPK cascadeGO:00001659.2FGFR1, FGFR3
22inner ear morphogenesisGO:00424729.2FGFR1, FGFR2
23skeletal system developmentGO:00015019.1FGFR3, FGFR1
24angiogenesisGO:00015258.9FGFR2, FGFR1
25positive regulation of phospholipase activityGO:00105188.9FGFR3, FGFR1, FGFR2
26positive regulation of MAPK cascadeGO:00434108.9FGFR3, FGFR1, FGFR2
27peptidyl-tyrosine phosphorylationGO:00181088.9FGFR3, FGFR1, FGFR2
28phosphatidylinositol-mediated signalingGO:00480158.9FGFR3, FGFR1, FGFR2
29insulin receptor signaling pathwayGO:00082868.9FGFR2, FGFR1, FGFR3
30protein autophosphorylationGO:00467778.9FGFR3, FGFR1, FGFR2
31fibroblast growth factor receptor signaling pathwayGO:00085438.9FGFR2, FGFR1, FGFR3
32Fc-epsilon receptor signaling pathwayGO:00380958.9FGFR3, FGFR1, FGFR2
33epidermal growth factor receptor signaling pathwayGO:00071738.9FGFR2, FGFR1, FGFR3
34neurotrophin TRK receptor signaling pathwayGO:00480118.9FGFR2, FGFR1, FGFR3
35positive regulation of cell proliferationGO:00082848.8FGFR2, FGFR1, FGFR3
36negative regulation of transcription from RNA polymerase II promoterGO:00001228.8FGFR3, FGFR1, FGFR2
37in utero embryonic developmentGO:00017018.7FGFR1, FGFR2
38innate immune responseGO:00450878.7FGFR3, FGFR1, FGFR2

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

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082018.7FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:00050078.6FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:00171348.5FGFR3, FGFR1, FGFR2
4ATP bindingGO:00055248.5FGFR3, FGFR1, FGFR2
5protein tyrosine kinase activityGO:00047138.4FGFR2, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet