MCID: JCK001
MIFTS: 50

Jackson-Weiss Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Jackson-Weiss Syndrome

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Sources:
50OMIM, 69Wikipedia, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Jackson-Weiss Syndrome:

Name: Jackson-Weiss Syndrome 50 69 46 23 24 52 68 25 12 48 66
Jws 46 24 52 68
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome 52
 
Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities 46
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities 68

Characteristics:

Orphanet epidemiological data:

52
jackson-weiss syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

62
jackson-weiss syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 123150
Orphanet52 ORPHA1540
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C537559
UMLS via Orphanet67 C0795998
MedGen35 C0795998

Summaries for Jackson-Weiss Syndrome

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NIH Rare Diseases:46 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 saethre-chotzen syndrome and crouzon 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 Endochondral Ossification and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Genetics Home Reference:24 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:68 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:50 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 49)
idRelated DiseaseScoreTop Affiliating Genes
1saethre-chotzen syndrome10.1
2crouzon syndrome10.1
3craniosynostosis10.1
4mite infestation10.0FGFR2, FGFR3
5apert syndrome10.0FGFR2, FGFR3
6accommodative esotropia10.0FGFR2, FGFR3
7crouzon syndrome with acanthosis nigricans10.0FGFR2, FGFR3
8glaucomatocyclitic crisis9.9FGFR2, FGFR3
9scleredema adultorum9.9FGFR2, FGFR3
10burns9.8
11paramyloidosis9.8
12myeloma9.8
13ulnar neuropathy9.8
14herpes simplex9.8
15neuropathy9.8
16encephalitis9.8
17transposition of the great arteries9.8
18herpes simplex encephalitis9.8
19spinal shock9.8
20osteopetrosis and infantile neuroaxonal dystrophy9.8FGFR1, FGFR3
21syphilitic myelopathy9.8FGFR1, FGFR3
22serous conjunctivitis except viral9.8FGFR2, FGFR3
23pfn1-related amyotrophic lateral sclerosis9.8FGFR1, FGFR2
24uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis9.7FGFR1, FGFR2
25y-linked disease9.7FGFR2, FGFR3
26grade iii astrocytoma9.7FGFR1, FGFR3
27mixed germ cell-sex cord neoplasm9.7FGFR2, FGFR3
28weill-marchesani syndrome9.7FGFR1, FGFR2
29adult astrocytic tumour9.6FGFR1, FGFR3
30progeria9.6FGFR1, FGFR2
31myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.6FGFR1, FGFR2
32cervical cancer, somatic9.4FGFR2, FGFR3
33glycogen storage disease ix9.3FGFR1, FGFR2
34flnb-related disorders9.3FGFR1, FGFR2, FGFR3
35plasmalogens synthesis deficiency isolated9.3FGFR1, FGFR2, FGFR3
36trigonocephaly 19.3FGFR1, FGFR2, FGFR3
37bladder cancer, somatic9.3FGFR1, FGFR2, FGFR3
38hypogonadotropic hypogonadism 2 with or without anosmia9.3FGFR1, FGFR2, FGFR3
39central nervous system leukemia9.3FGFR1, FGFR2, FGFR3
40thanatophoric dysplasia, type i9.3FGFR1, FGFR2, FGFR3
41antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.3FGFR1, FGFR2, FGFR3
42beare-stevenson cutis gyrata syndrome9.3FGFR1, FGFR2, FGFR3
43thanatophoric dysplasia, type ii9.3FGFR1, FGFR2, FGFR3
44ischemic bone disease9.3FGFR1, FGFR2, FGFR3
45hypochondroplasia9.3FGFR1, FGFR2, FGFR3
46craniosynostosis, type 19.3FGFR1, FGFR2, FGFR3
47jackson-weiss syndrome9.3FGFR1, FGFR2, FGFR3
48hypertrophic cardiomyopathy9.3FGFR1, FGFR2, FGFR3
49crohn's disease9.2FGFR1, FGFR2, FGFR3

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:

 52 (show all 21)
  • abnormality of the palate
  • turricephaly
  • mandibular prognathia
  • hypertelorism
  • hypoplasia of the maxilla
  • convex nasal ridge
  • strabismus
  • ptosis
  • proptosis
  • toe syndactyly
  • broad metatarsal
  • split foot
  • preaxial foot polydactyly
  • frontal bossing
  • abnormality of the fibula
  • 2-3 toe syndactyly
  • symphalangism affecting the phalanges of the hand
  • underdeveloped supraorbital ridges
  • broad hallux phalanx
  • short metatarsal
  • midface retrusion

HPO human phenotypes related to Jackson-Weiss Syndrome:

(show all 27)
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 malar flattening HP:0000272
20 craniosynostosis HP:0001363
21 broad metatarsal HP:0001783
22 2-3 toe syndactyly HP:0004691
23 hallux varus HP:0008080
24 calcaneonavicular fusion HP:0008122
25 broad hallux HP:0010055
26 short metatarsal HP:0010743
27 midface retrusion 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 Syndrome25 23 FGFR2

Anatomical Context for Jackson-Weiss Syndrome

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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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MGI Mouse Phenotypes related to Jackson-Weiss Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8FGFR1, FGFR2, FGFR3
2MP:00053828.8FGFR1, FGFR2, FGFR3
3MP:00030128.7FGFR1, FGFR2, FGFR3
4MP:00053818.7FGFR1, FGFR2, FGFR3
5MP:00053918.6FGFR1, FGFR2, FGFR3
6MP:00053678.5FGFR1, FGFR2, FGFR3
7MP:00053718.5FGFR1, FGFR2, FGFR3

Publications for Jackson-Weiss Syndrome

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Articles related to Jackson-Weiss Syndrome:

idTitleAuthorsYear
1
Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in &quot;lost&quot; descendants of the original kindred. (11343323)
2001
2
Jackson-Weiss syndrome. (11343324)
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:

68
id Symbol AA change Variation ID SNP ID
1FGFR1p.Pro252ArgVAR_004111rs121909627
2FGFR2p.Cys278PheVAR_004121rs776587763
3FGFR2p.Gln289ProVAR_004123rs121918497
4FGFR2p.Cys342ArgVAR_004137rs121918488
5FGFR2p.Cys342SerVAR_004138rs121918488
6FGFR2p.Ala344GlyVAR_004140rs121918492

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 42)
idSuper pathwaysScoreTop Affiliating Genes
19.1FGFR1, FGFR3
29.1FGFR1, FGFR3
39.0FGFR1, FGFR2
4
Show member pathways
8.5FGFR1, 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
88.5FGFR1, 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
19
Show member pathways
8.5FGFR1, FGFR2, FGFR3
20
Show member pathways
8.5FGFR1, FGFR2, FGFR3
218.5FGFR1, FGFR2, FGFR3
22
Show member pathways
8.5FGFR1, FGFR2, FGFR3
238.5FGFR1, FGFR2, FGFR3
248.5FGFR1, FGFR2, FGFR3
258.5FGFR1, FGFR2, FGFR3
26
Show member pathways
8.5FGFR1, FGFR2, FGFR3
27
Show member pathways
8.5FGFR1, FGFR2, FGFR3
288.5FGFR1, FGFR2, FGFR3
298.5FGFR1, FGFR2, FGFR3
308.5FGFR1, FGFR2, FGFR3
31
Show member pathways
8.5FGFR1, 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
358.5FGFR1, FGFR2, FGFR3
36
Show member pathways
8.5FGFR1, FGFR2, FGFR3
378.5FGFR1, FGFR2, FGFR3
38
Show member pathways
8.5FGFR1, FGFR2, FGFR3
39
Show member pathways
8.5FGFR1, FGFR2, FGFR3
40
Show member pathways
8.5FGFR1, FGFR2, FGFR3
41
Show member pathways
8.5FGFR1, FGFR2, FGFR3
428.5FGFR1, 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:00160239.1FGFR1, FGFR2
2integral component of plasma membraneGO:00058878.5FGFR1, FGFR2, FGFR3

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
2bone mineralizationGO:00302829.7FGFR2, FGFR3
3mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
4bone morphogenesisGO:00603499.7FGFR2, FGFR3
5positive regulation of cardiac muscle cell proliferationGO:00600459.6FGFR1, FGFR2
6chondrocyte differentiationGO:00020629.6FGFR1, FGFR3
7positive regulation of cell cycleGO:00457879.6FGFR1, FGFR2
8skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
9branching involved in salivary gland morphogenesisGO:00604459.6FGFR1, FGFR2
10positive regulation of mesenchymal cell proliferationGO:00020539.6FGFR1, FGFR2
11in utero embryonic developmentGO:00017019.5FGFR1, FGFR2
12ventricular zone neuroblast divisionGO:00218479.5FGFR1, FGFR2
13midbrain developmentGO:00309019.5FGFR1, FGFR2
14skeletal system developmentGO:00015019.4FGFR1, FGFR3
15lung developmentGO:00303249.4FGFR1, FGFR2
16ureteric bud developmentGO:00016579.4FGFR1, FGFR2
17inner ear morphogenesisGO:00424729.3FGFR1, FGFR2
18phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.2FGFR1, FGFR2, FGFR3
19lung-associated mesenchyme developmentGO:00604849.1FGFR1, FGFR2
20phosphatidylinositol phosphorylationGO:00468549.1FGFR1, FGFR2, FGFR3
21regulation of phosphatidylinositol 3-kinase signalingGO:00140669.1FGFR1, FGFR2, FGFR3
22phosphatidylinositol-mediated signalingGO:00480159.1FGFR1, FGFR2, FGFR3
23fibroblast growth factor receptor signaling pathwayGO:00085439.0FGFR1, FGFR2, FGFR3
24positive regulation of phospholipase activityGO:00105189.0FGFR1, FGFR2, FGFR3
25positive regulation of ERK1 and ERK2 cascadeGO:00703749.0FGFR2, FGFR3
26protein autophosphorylationGO:00467779.0FGFR1, FGFR2, FGFR3
27peptidyl-tyrosine phosphorylationGO:00181088.9FGFR1, FGFR2, FGFR3
28orbitofrontal cortex developmentGO:00217698.9FGFR1, FGFR2
29MAPK cascadeGO:00001658.9FGFR1, FGFR2, FGFR3
30positive regulation of MAPK cascadeGO:00434108.9FGFR1, FGFR2, FGFR3
31positive regulation of GTPase activityGO:00435478.5FGFR1, FGFR2, FGFR3
32positive regulation of cell proliferationGO:00082848.5FGFR1, FGFR2, FGFR3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082019.6FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:00050079.2FGFR1, FGFR2, FGFR3
31-phosphatidylinositol-3-kinase activityGO:00163039.1FGFR1, FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.1FGFR1, FGFR2, FGFR3
5fibroblast growth factor bindingGO:00171349.0FGFR1, FGFR2, FGFR3
6protein tyrosine kinase activityGO:00047139.0FGFR1, FGFR2, FGFR3
7Ras guanyl-nucleotide exchange factor activityGO:00050888.9FGFR1, FGFR2, FGFR3
8ATP bindingGO:00055248.5FGFR1, FGFR2, FGFR3

Sources for Jackson-Weiss Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet