MCID: JCK001
MIFTS: 49

Jackson-Weiss Syndrome malady

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

Aliases & Classifications for Jackson-Weiss Syndrome

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Jackson-Weiss Syndrome:

Name: Jackson-Weiss Syndrome 51 70 47 24 25 53 69 26 12 49 67
Jws 47 25 53 69
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome 53
 
Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities 47
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities 69

Characteristics:

Orphanet epidemiological data:

53
jackson-weiss syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

63
jackson-weiss syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 123150
Orphanet53 ORPHA1540
UMLS via Orphanet68 C0795998
MESH via Orphanet39 C537559
ICD10 via Orphanet30 Q87.8
MedGen36 C0795998

Summaries for Jackson-Weiss Syndrome

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NIH Rare Diseases:47 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 Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Endochondral Ossification. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and digestive/alimentary.

Genetics Home Reference:25 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:69 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:51 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 46)
idRelated DiseaseScoreTop Affiliating Genes
1saethre-chotzen syndrome10.0
2crouzon syndrome10.0
3craniosynostosis10.0
4mite infestation10.0FGFR2, FGFR3
5apert syndrome10.0FGFR2, FGFR3
6accommodative esotropia10.0FGFR2, FGFR3
7crouzon syndrome with acanthosis nigricans9.9FGFR2, FGFR3
8glaucomatocyclitic crisis9.9FGFR2, FGFR3
9scleredema adultorum9.9FGFR2, FGFR3
10serous conjunctivitis except viral9.8FGFR2, FGFR3
11osteopetrosis and infantile neuroaxonal dystrophy9.8FGFR1, FGFR3
12syphilitic myelopathy9.8FGFR1, FGFR3
13y-linked disease9.8FGFR2, FGFR3
14pfn1-related amyotrophic lateral sclerosis9.7FGFR1, FGFR2
15uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis9.7FGFR1, FGFR2
16grade iii astrocytoma9.7FGFR1, FGFR3
17burns9.7
18leukemia9.7
19paramyloidosis9.7
20ulnar neuropathy9.7
21herpes simplex9.7
22neuropathy9.7
23encephalitis9.7
24chronic neutrophilic leukemia9.7
25herpes simplex encephalitis9.7
26spinal shock9.7
27transposition of the great arteries9.7
28adult astrocytic tumour9.7FGFR1, FGFR3
29cervical cancer, somatic9.6FGFR2, FGFR3
30myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.6FGFR1, FGFR2
31glycogen storage disease ix9.5FGFR1, FGFR2
32mixed germ cell-sex cord neoplasm9.5FGFR2, FGFR3
33flnb-related disorders9.4FGFR1, FGFR2, FGFR3
34plasmalogens synthesis deficiency isolated9.4FGFR1, FGFR2, FGFR3
35trigonocephaly 19.4FGFR1, FGFR2, FGFR3
36bladder cancer, somatic9.3FGFR1, FGFR2, FGFR3
37hypogonadotropic hypogonadism 2 with or without anosmia9.3FGFR1, FGFR2, FGFR3
38central nervous system leukemia9.3FGFR1, FGFR2, FGFR3
39thanatophoric dysplasia, type i9.3FGFR1, FGFR2, FGFR3
40antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.3FGFR1, FGFR2, FGFR3
41beare-stevenson cutis gyrata syndrome9.3FGFR1, FGFR2, FGFR3
42thanatophoric dysplasia, type ii9.3FGFR1, FGFR2, FGFR3
43ischemic bone disease9.3FGFR1, FGFR2, FGFR3
44hypochondroplasia9.3FGFR1, FGFR2, FGFR3
45craniosynostosis, type 19.3FGFR1, FGFR2, FGFR3
46crohn's disease9.3FGFR1, 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

Human phenotypes related to Jackson-Weiss Syndrome:

 63 53 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening63 hallmark (90%) HP:0000272
2 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
3 toe syndactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001770
4 preaxial foot polydactyly63 53 hallmark (90%) Occasional (29-5%) HP:0001841
5 tarsal synostosis63 hallmark (90%) HP:0008368
6 abnormality of the palate63 53 typical (50%) Frequent (79-30%) HP:0000174
7 mandibular prognathia63 53 typical (50%) Frequent (79-30%) HP:0000303
8 convex nasal ridge63 53 typical (50%) Frequent (79-30%) HP:0000444
9 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
10 ptosis63 53 typical (50%) Frequent (79-30%) HP:0000508
11 proptosis63 53 typical (50%) Frequent (79-30%) HP:0000520
12 frontal bossing63 53 typical (50%) Frequent (79-30%) HP:0002007
13 underdeveloped supraorbital ridges63 53 typical (50%) Frequent (79-30%) HP:0009891
14 split foot63 53 occasional (7.5%) Occasional (29-5%) HP:0001839
15 abnormality of the fibula63 53 occasional (7.5%) Occasional (29-5%) HP:0002991
16 finger syndactyly63 occasional (7.5%) HP:0006101
17 symphalangism affecting the phalanges of the hand63 53 occasional (7.5%) Occasional (29-5%) HP:0009773
18 craniosynostosis63 HP:0001363
19 broad metatarsal63 53 Very frequent (99-80%) HP:0001783
20 2-3 toe syndactyly63 53 Occasional (29-5%) HP:0004691
21 hallux varus63 HP:0008080
22 calcaneonavicular fusion63 HP:0008122
23 broad hallux63 HP:0010055
24 short metatarsal63 53 Very frequent (99-80%) HP:0010743
25 midface retrusion63 53 Very frequent (99-80%) HP:0011800
26 turricephaly53 Very frequent (99-80%)
27 hypoplasia of the maxilla53 Frequent (79-30%)
28 broad hallux phalanx53 Very frequent (99-80%)

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 Syndrome26 24 FGFR2

Anatomical Context for Jackson-Weiss Syndrome

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MalaCards organs/tissues related to Jackson-Weiss Syndrome:

35
Bone

Animal Models for Jackson-Weiss Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Jackson-Weiss Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3FGFR1, FGFR2, FGFR3
2MP:00053819.3FGFR1, FGFR2, FGFR3
3MP:00053779.3FGFR1, FGFR2, FGFR3
4MP:00053719.3FGFR1, FGFR2, FGFR3
5MP:00030129.3FGFR1, FGFR2, FGFR3
6MP:00053679.2FGFR1, FGFR2, FGFR3
7MP:00053918.5FGFR1, 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 "lost" 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:

69
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)SNVPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
2FGFR2NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser)SNVPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
3FGFR2NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly)SNVPathogenicrs121918492GRCh37Chr 10, 123276886: 123276886
4FGFR2NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro)SNVPathogenicrs121918497GRCh37Chr 10, 123279566: 123279566
5FGFR1NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg)SNVPathogenicrs121909627GRCh37Chr 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 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
198.5FGFR1, FGFR2, FGFR3
208.5FGFR1, 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
268.5FGFR1, FGFR2, FGFR3
27
Show member pathways
8.5FGFR1, FGFR2, FGFR3
28
Show member pathways
8.5FGFR1, FGFR2, FGFR3
29
Show member pathways
8.5FGFR1, 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
348.5FGFR1, 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
1integral 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
1bone mineralizationGO:00302829.8FGFR2, FGFR3
2fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
3bone morphogenesisGO:00603499.7FGFR2, FGFR3
4mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
5chondrocyte differentiationGO:00020629.7FGFR1, FGFR3
6positive regulation of cardiac muscle cell proliferationGO:00600459.6FGFR1, FGFR2
7positive regulation of cell cycleGO:00457879.6FGFR1, FGFR2
8skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
9branching involved in salivary gland morphogenesisGO:00604459.5FGFR1, FGFR2
10positive regulation of mesenchymal cell proliferationGO:00020539.5FGFR1, FGFR2
11in utero embryonic developmentGO:00017019.5FGFR1, FGFR2
12skeletal system developmentGO:00015019.5FGFR1, FGFR3
13ventricular zone neuroblast divisionGO:00218479.5FGFR1, FGFR2
14ureteric bud developmentGO:00016579.5FGFR1, FGFR2
15lung developmentGO:00303249.4FGFR1, FGFR2
16inner ear morphogenesisGO:00424729.4FGFR1, FGFR2
17midbrain developmentGO:00309019.4FGFR1, FGFR2
18lung-associated mesenchyme developmentGO:00604849.2FGFR1, FGFR2
19phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.2FGFR1, FGFR2, FGFR3
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:00085439.1FGFR1, FGFR2, FGFR3
24positive regulation of ERK1 and ERK2 cascadeGO:00703749.0FGFR2, FGFR3
25positive regulation of phospholipase activityGO:00105189.0FGFR1, FGFR2, FGFR3
26peptidyl-tyrosine phosphorylationGO:00181089.0FGFR1, FGFR2, FGFR3
27protein autophosphorylationGO:00467779.0FGFR1, FGFR2, FGFR3
28orbitofrontal cortex developmentGO:00217698.9FGFR1, FGFR2
29positive regulation of MAPK cascadeGO:00434108.9FGFR1, FGFR2, FGFR3
30MAPK cascadeGO:00001658.7FGFR1, FGFR2, FGFR3
31positive regulation of GTPase activityGO:00435478.6FGFR1, 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:00050888.8FGFR1, FGFR2, FGFR3
8ATP bindingGO:00055248.5FGFR1, FGFR2, FGFR3

Sources for Jackson-Weiss Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet