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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Jackson-Weiss Syndrome:

Name: Jackson-Weiss Syndrome 52 71 48 24 25 54 70 27 12 50 68
Jws 48 25 54 70
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome 54
 
Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities 48
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities 70

Characteristics:

Orphanet epidemiological data:

54
jackson-weiss syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
jackson-weiss syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 123150
Orphanet54 ORPHA1540
UMLS via Orphanet69 C0795998
MESH via Orphanet40 C537559
ICD10 via Orphanet31 Q87.8
MedGen37 C0795998

Summaries for Jackson-Weiss Syndrome

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NIH Rare Diseases:48 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 Decreased substrate adherent cell growth and Condensed cis-Golgi.

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:70 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:52 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 & Phenotypes 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:

 64 54 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening64 hallmark (90%) HP:0000272
2 hypertelorism64 54 hallmark (90%) Very frequent (99-80%) HP:0000316
3 toe syndactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001770
4 preaxial foot polydactyly64 54 hallmark (90%) Occasional (29-5%) HP:0001841
5 tarsal synostosis64 hallmark (90%) HP:0008368
6 abnormality of the palate64 54 typical (50%) Frequent (79-30%) HP:0000174
7 mandibular prognathia64 54 typical (50%) Frequent (79-30%) HP:0000303
8 convex nasal ridge64 54 typical (50%) Frequent (79-30%) HP:0000444
9 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
10 ptosis64 54 typical (50%) Frequent (79-30%) HP:0000508
11 proptosis64 54 typical (50%) Frequent (79-30%) HP:0000520
12 frontal bossing64 54 typical (50%) Frequent (79-30%) HP:0002007
13 underdeveloped supraorbital ridges64 54 typical (50%) Frequent (79-30%) HP:0009891
14 split foot64 54 occasional (7.5%) Occasional (29-5%) HP:0001839
15 abnormality of the fibula64 54 occasional (7.5%) Occasional (29-5%) HP:0002991
16 finger syndactyly64 occasional (7.5%) HP:0006101
17 symphalangism affecting the phalanges of the hand64 54 occasional (7.5%) Occasional (29-5%) HP:0009773
18 craniosynostosis64 HP:0001363
19 broad metatarsal64 54 Very frequent (99-80%) HP:0001783
20 2-3 toe syndactyly64 54 Occasional (29-5%) HP:0004691
21 hallux varus64 HP:0008080
22 calcaneonavicular fusion64 HP:0008122
23 broad hallux64 HP:0010055
24 short metatarsal64 54 Very frequent (99-80%) HP:0010743
25 midface retrusion64 54 Very frequent (99-80%) HP:0011800
26 turricephaly54 Very frequent (99-80%)
27 hypoplasia of the maxilla54 Frequent (79-30%)
28 broad hallux phalanx54 Very frequent (99-80%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00193-A-310.1FGFR2, FGFR3
2GR00365-A9.9FGFR1, FGFR2
3GR00248-A9.3FGFR1, FGFR2, FGFR3

MGI Mouse Phenotypes related to Jackson-Weiss Syndrome according to GeneCards Suite gene sharing:

41
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

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 Syndrome27 24 FGFR2

Anatomical Context for Jackson-Weiss Syndrome

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MalaCards organs/tissues related to Jackson-Weiss Syndrome:

36
Bone

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:

70
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:003028210.1FGFR2, FGFR3
2bone morphogenesisGO:006034910.1FGFR2, FGFR3
3positive regulation of ERK1 and ERK2 cascadeGO:007037410.0FGFR2, FGFR3
4chondrocyte differentiationGO:00020629.9FGFR1, FGFR3
5branching involved in salivary gland morphogenesisGO:00604459.8FGFR1, FGFR2
6fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
7in utero embryonic developmentGO:00017019.8FGFR1, FGFR2
8inner ear morphogenesisGO:00424729.8FGFR1, FGFR2
9lung developmentGO:00303249.8FGFR1, FGFR2
10lung-associated mesenchyme developmentGO:00604849.8FGFR1, FGFR2
11mesenchymal cell differentiationGO:00487629.8FGFR1, FGFR2
12midbrain developmentGO:00309019.8FGFR1, FGFR2
13orbitofrontal cortex developmentGO:00217699.8FGFR1, FGFR2
14positive regulation of cardiac muscle cell proliferationGO:00600459.8FGFR1, FGFR2
15positive regulation of cell cycleGO:00457879.8FGFR1, FGFR2
16positive regulation of mesenchymal cell proliferationGO:00020539.7FGFR1, FGFR2
17skeletal system developmentGO:00015019.6FGFR1, FGFR3
18skeletal system morphogenesisGO:00487059.5FGFR1, FGFR2
19fibroblast growth factor receptor signaling pathwayGO:00085439.3FGFR1, FGFR2, FGFR3
20MAPK cascadeGO:00001659.3FGFR1, FGFR2, FGFR3
21peptidyl-tyrosine phosphorylationGO:00181089.3FGFR1, FGFR2, FGFR3
22phosphatidylinositol phosphorylationGO:00468549.3FGFR1, FGFR2, FGFR3
23phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.3FGFR1, FGFR2, FGFR3
24phosphatidylinositol-mediated signalingGO:00480159.2FGFR1, FGFR2, FGFR3
25positive regulation of cell proliferationGO:00082849.2FGFR1, FGFR2, FGFR3
26positive regulation of GTPase activityGO:00435479.2FGFR1, FGFR2, FGFR3
27positive regulation of MAPK cascadeGO:00434109.2FGFR1, FGFR2, FGFR3
28positive regulation of phospholipase activityGO:00105189.2FGFR1, FGFR2, FGFR3
29protein autophosphorylationGO:00467779.1FGFR1, FGFR2, FGFR3
30regulation of phosphatidylinositol 3-kinase signalingGO:00140669.1FGFR1, FGFR2, FGFR3
31ureteric bud developmentGO:00016579.0FGFR1, FGFR2
32ventricular zone neuroblast divisionGO:00218479.0FGFR1, FGFR2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082019.7FGFR1, FGFR2
21-phosphatidylinositol-3-kinase activityGO:00163039.3FGFR1, FGFR2, FGFR3
3ATP bindingGO:00055249.2FGFR1, FGFR2, FGFR3
4fibroblast growth factor bindingGO:00171349.2FGFR1, FGFR2, FGFR3
5fibroblast growth factor-activated receptor activityGO:00050079.2FGFR1, FGFR2, FGFR3
6phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.1FGFR1, FGFR2, FGFR3
7protein tyrosine kinase activityGO:00047139.0FGFR1, FGFR2, FGFR3
8Ras guanyl-nucleotide exchange factor activityGO:00050888.5FGFR1, FGFR2, FGFR3

Sources for Jackson-Weiss Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet