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:
49OMIM, 11diseasecard, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Jackson-Weiss Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
jackson-weiss syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 123150
Orphanet51 1540
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C537559
UMLS via Orphanet66 C0795998
MedGen34 C0795998
UMLS65 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 saethre-chotzen syndrome and crouzon syndrome, and has symptoms including tarsal synostosis, preaxial foot polydactyly 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, prostate and colon, and related mouse phenotypes are limbs/digits/tail and vision/eye.

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.

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.

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 46)
idRelated DiseaseScoreTop Affiliating Genes
1saethre-chotzen syndrome10.1
2crouzon syndrome10.1
3craniosynostosis10.1
4cyclotropia10.0FGFR2, FGFR3
5slc16a1-related hyperinsulinism10.0FGFR2, FGFR3
6tenosynovial giant cell tumor10.0FGFR2, FGFR3
7hypochondroplasia9.9FGFR2, FGFR3
8burns9.8
9paramyloidosis9.8
10myeloma9.8
11ulnar neuropathy9.8
12herpes simplex9.8
13neuropathy9.8
14encephalitis9.8
15herpes simplex encephalitis9.8
16spinal shock9.8
17transposition of the great arteries9.8
18adult astrocytic tumour9.8FGFR1, FGFR3
19autosomal recessive disease9.8FGFR2, FGFR3
20pfeiffer syndrome type 1, 2 and 39.7FGFR1, FGFR2
21acute laryngopharyngitis9.7FGFR2, FGFR3
22cervical cancer, somatic9.7FGFR2, FGFR3
23loeys-dietz syndrome9.7FGFR1, FGFR2
24vulvovaginal candidiasis9.7FGFR1, FGFR2
25giant cell glioblastoma9.6FGFR1, FGFR3
26bardet-biedl syndrome9.6FGFR2, FGFR3
27bronchogenic lung adenocarcinoma9.6FGFR1, FGFR2
28myasthenic syndrome, congenital, 2a, slow-channel9.6FGFR1, FGFR2
29plagiocephaly and x-linked mental retardation9.3FGFR1, FGFR2, FGFR3
30flna-related periventricular nodular heterotopia9.3FGFR1, FGFR2, FGFR3
31bladder cancer, somatic9.3FGFR1, FGFR2, FGFR3
32hypogonadotropic hypogonadism 2 with or without anosmia9.3FGFR1, FGFR2, FGFR3
33apert syndrome9.3FGFR1, FGFR2, FGFR3
34poland syndrome9.3FGFR1, FGFR2, FGFR3
35diverticulitis of colon9.3FGFR1, FGFR2, FGFR3
36crouzon syndrome with acanthosis nigricans9.3FGFR1, FGFR2, FGFR3
37thanatophoric dysplasia, type i9.3FGFR1, FGFR2, FGFR3
38antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.3FGFR1, FGFR2, FGFR3
39beare-stevenson cutis gyrata syndrome9.3FGFR1, FGFR2, FGFR3
40bone deterioration disease9.3FGFR1, FGFR2, FGFR3
41thanatophoric dysplasia, type ii9.3FGFR1, FGFR2, FGFR3
42craniosynostosis, type 19.3FGFR1, FGFR2, FGFR3
43jackson-weiss syndrome9.3FGFR1, FGFR2, FGFR3
44botulism9.3FGFR1, FGFR2, FGFR3
45critical limb ischemia9.2FGFR1, FGFR2, FGFR3
46asphyxiating thoracic dystrophy9.2FGFR1, 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 27)
id Description Frequency HPO Source Accession
1 tarsal synostosis hallmark (90%) HP:0008368
2 preaxial foot polydactyly hallmark (90%) HP:0001841
3 toe syndactyly hallmark (90%) HP:0001770
4 hypertelorism hallmark (90%) HP:0000316
5 malar flattening hallmark (90%) HP:0000272
6 underdeveloped supraorbital ridges typical (50%) HP:0009891
7 frontal bossing typical (50%) HP:0002007
8 proptosis typical (50%) HP:0000520
9 ptosis typical (50%) HP:0000508
10 strabismus typical (50%) HP:0000486
11 convex nasal ridge typical (50%) HP:0000444
12 mandibular prognathia typical (50%) HP:0000303
13 abnormality of the palate typical (50%) HP:0000174
14 symphalangism affecting the phalanges of the hand occasional (7.5%) HP:0009773
15 finger syndactyly occasional (7.5%) HP:0006101
16 abnormality of the fibula occasional (7.5%) HP:0002991
17 preaxial foot polydactyly occasional (7.5%) HP:0001841
18 split foot occasional (7.5%) HP:0001839
19 midface retrusion HP:0011800
20 short metatarsal HP:0010743
21 broad hallux HP:0010055
22 calcaneonavicular fusion HP:0008122
23 hallux varus HP:0008080
24 2-3 toe syndactyly HP:0004691
25 broad metatarsal HP:0001783
26 craniosynostosis HP:0001363
27 malar flattening HP:0000272

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 FGFR2

Anatomical Context for Jackson-Weiss Syndrome

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MalaCards organs/tissues related to Jackson-Weiss Syndrome:

33
Bone, Prostate, Colon, Lung, Breast

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:00053718.8FGFR1, FGFR2, FGFR3
2MP:00053918.8FGFR1, FGFR2, FGFR3
3MP:00030128.8FGFR1, FGFR2, FGFR3
4MP:00053818.7FGFR1, FGFR2, FGFR3
5MP:00053678.7FGFR1, FGFR2, FGFR3
6MP:00053828.7FGFR1, FGFR2, FGFR3
7MP:00053778.5FGFR1, 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 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
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
188.5FGFR1, FGFR2, FGFR3
19
Show member pathways
8.5FGFR1, FGFR2, FGFR3
20
Show member pathways
8.5FGFR1, FGFR2, FGFR3
21
Show member pathways
8.5FGFR1, 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
328.5FGFR1, 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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Biological processes related to Jackson-Weiss Syndrome according to GeneCards Suite gene sharing:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPK cascadeGO:00434109.8FGFR2, FGFR3
2fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.7FGFR1, FGFR2
3positive regulation of ERK1 and ERK2 cascadeGO:00703749.7FGFR2, FGFR3
4bone morphogenesisGO:00603499.7FGFR2, FGFR3
5lung-associated mesenchyme developmentGO:00604849.7FGFR1, FGFR2
6bone mineralizationGO:00302829.7FGFR2, FGFR3
7positive regulation of cell cycleGO:00457879.6FGFR1, FGFR2
8positive regulation of mesenchymal cell proliferationGO:00020539.6FGFR1, FGFR2
9positive regulation of cardiac muscle cell proliferationGO:00600459.6FGFR1, FGFR2
10skeletal system morphogenesisGO:00487059.5FGFR1, FGFR2
11branching involved in salivary gland morphogenesisGO:00604459.5FGFR1, FGFR2
12activation of MAPKK activityGO:00001869.3FGFR1, FGFR2
13positive regulation of phospholipase activityGO:00105189.1FGFR1, FGFR2, FGFR3
14regulation of phosphatidylinositol 3-kinase signalingGO:00140669.1FGFR1, FGFR2, FGFR3
15phosphatidylinositol-mediated signalingGO:00480159.1FGFR1, FGFR2, FGFR3
16phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.0FGFR1, FGFR2, FGFR3
17lung developmentGO:00303249.0FGFR1, FGFR2
18orbitofrontal cortex developmentGO:00217699.0FGFR1, FGFR2
19epidermal growth factor receptor signaling pathwayGO:00071739.0FGFR1, FGFR2, FGFR3
20protein autophosphorylationGO:00467779.0FGFR1, FGFR2, FGFR3
21fibroblast growth factor receptor signaling pathwayGO:00085439.0FGFR1, FGFR2, FGFR3
22Ras protein signal transductionGO:00072658.9FGFR1, FGFR2, FGFR3
23MAPK cascadeGO:00001658.9FGFR1, FGFR2, FGFR3
24vascular endothelial growth factor receptor signaling pathwayGO:00480108.8FGFR1, FGFR2, FGFR3
25insulin receptor signaling pathwayGO:00082868.8FGFR1, FGFR2, FGFR3
26axon guidanceGO:00074118.6FGFR1, FGFR2, FGFR3
27neurotrophin TRK receptor signaling pathwayGO:00480118.4FGFR1, FGFR2, FGFR3
28innate immune responseGO:00450878.2FGFR1, FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.8FGFR2, FGFR3
2protein tyrosine kinase activityGO:00047138.5FGFR1, 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