JWS
MCID: JCK001
MIFTS: 48

Jackson-Weiss Syndrome (JWS)

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

Aliases & Classifications for Jackson-Weiss Syndrome

MalaCards integrated aliases for Jackson-Weiss Syndrome:

Name: Jackson-Weiss Syndrome 57 12 73 20 43 58 72 36 29 13 54 6 44 15 39 70
Jws 57 12 20 43 58 72
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome 12 58
Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities 57 20
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities 72

Characteristics:

Orphanet epidemiological data:

58
jackson-weiss syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
jackson-weiss syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111337
OMIM® 57 123150
KEGG 36 H01988
NCIt 50 C123814
SNOMED-CT 67 709105005
MESH via Orphanet 45 C537559
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C0795998
Orphanet 58 ORPHA1540
MedGen 41 C0795998
UMLS 70 C0795998

Summaries for Jackson-Weiss Syndrome

MedlinePlus Genetics : 43 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.Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead.Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal.Some individuals with Jackson-Weiss syndrome have hearing impairment. People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.

MalaCards based summary : Jackson-Weiss Syndrome, also known as jws, is related to craniosynostosis and antley-bixler syndrome. An important gene associated with Jackson-Weiss Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Negative regulation of FGFR3 signaling and RhoGDI Pathway. Related phenotypes are hypertelorism and broad hallux phalanx

Disease Ontology : 12 A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has material basis in heterozygous mutation in FGFR2 on chromosome 10q26.13.

GARD : 20 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.

OMIM® : 57 Jackson-Weiss syndrome (JWS) is an autosomal dominant condition consisting of craniosynostosis characterized by premature fusion of the cranial sutures as well as radiographic anomalies of the feet (summary by Heike et al., 2001). (123150) (Updated 05-Apr-2021)

KEGG : 36 Jackson-Weiss syndrome (JWS) is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. While mutations of multiple genes have been identified in syndromic craniosynostosis, the most frequently mutated gene is FGFR2. Mutations of FGFR1 have occasionally been identified in JWS.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Jackson-Weiss syndrome (JWS) is a genetic disorder characterized by foot abnormalities and the premature... more...

Related Diseases for Jackson-Weiss Syndrome

Diseases related to Jackson-Weiss Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 30.8 MSX2 FGFR3 FGFR2 FGFR1 FGF10
2 antley-bixler syndrome 30.5 FGFR3 FGFR2 FGFR1
3 saethre-chotzen syndrome 30.3 MSX2 HMX2 FGFR3 FGFR2 FGFR1 ARID1B
4 crouzon syndrome 30.1 VPREB1 MSX2 LINC01163 FGFR3 FGFR2 FGFR1
5 apert syndrome 30.1 MSX2 FGFR3 FGFR2 FGFR1 FGF10 ARID1B
6 pfeiffer syndrome 30.1 MSX2 FGFR3 FGFR2 FGFR1 FGF10 ARID1B
7 hemifacial hyperplasia 10.3 FGFR3 FGFR2
8 fgfr craniosynostosis syndromes 10.3 FGFR3 FGFR2 FGFR1
9 plagiocephaly 10.3 FGFR3 FGFR2 FGFR1
10 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.3 FGFR3 FGFR2 FGFR1
11 testicular spermatocytic seminoma 10.3 FGFR3 FGFR2
12 osteoglophonic dysplasia 10.3 FGFR3 FGFR2 FGFR1
13 thanatophoric dysplasia, type i 10.3 FGFR3 FGFR2 FGFR1
14 hypochondroplasia 10.3 FGFR3 FGFR2 FGFR1
15 radioulnar synostosis 10.3 FGFR3 FGFR2 FGFR1
16 clear cell acanthoma 10.3 FGFR2 FGF10
17 nevus, epidermal 10.3 FGFR3 FGFR2 FGFR1
18 synovial chondromatosis 10.3 FGFR3 FGFR1
19 dacryocystocele 10.2 FGFR3 FGFR2 FGF10
20 syndromic craniosynostosis 10.2 MSX2 FGFR3 FGFR2 FGFR1
21 chronic inflammation of lacrimal passage 10.2 FGFR3 FGFR2 FGF10
22 synostosis 10.2 MSX2 FGFR3 FGFR2 FGFR1
23 hypertelorism, microtia, facial clefting syndrome 10.2 MSX2 FGFR3 FGFR2 FGFR1
24 luteoma 10.2 FGFR3 FGFR2
25 acanthoma 10.2 FGFR3 FGFR2 FGF10
26 achondroplasia 10.2 MSX2 FGFR3 FGFR2 FGFR1
27 cleidocranial dysplasia 10.2 MSX2 FGFR2 FGFR1
28 bone development disease 10.2 MSX2 FGFR3 FGFR2 FGFR1
29 hepatocellular clear cell carcinoma 10.2 FGFR2 FGFR1
30 dysostosis 10.2 MSX2 FGFR3 FGFR2 FGFR1
31 deafness, autosomal recessive 71 10.2 FGFR3 FGFR2 FGFR1 FGF10
32 lacrimoauriculodentodigital syndrome 10.2 FGFR3 FGFR2 FGFR1 FGF10
33 physical disorder 10.1 MSX2 FGFR2 FGF10
34 holoprosencephaly 10.1 MSX2 FGFR3 FGFR2 FGFR1
35 odontochondrodysplasia 10.1 SLC35D1 MSX2 FGFR3 FGFR2 FGFR1
36 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.1
37 craniosynostosis, adelaide type 10.1
38 bunion 10.1
39 tooth agenesis 10.1 MSX2 FGFR2 FGFR1 FGF10
40 chromosome 2q35 duplication syndrome 10.1 MSX2 FGFR3 FGFR2 FGFR1 FGF10
41 orofacial cleft 10.0 MSX2 FGFR3 FGFR2 FGFR1 FGF10
42 cleft palate, isolated 10.0 MSX2 FGFR3 FGFR2 FGFR1 FGF10
43 renal hypodysplasia/aplasia 1 10.0 FGFR2 FGFR1 FGF10
44 muenke syndrome 10.0 MSX2 FGFR3 FGFR2 FGFR1 FGF10 ARID1B
45 aplasia of lacrimal and salivary glands 10.0 FGFR2 FGF10
46 beare-stevenson cutis gyrata syndrome 9.9 TEX36 MROH7 LINC01163 FGFR3 FGFR2 ATE1

Graphical network of the top 20 diseases related to Jackson-Weiss Syndrome:



Diseases related to Jackson-Weiss Syndrome

Symptoms & Phenotypes for Jackson-Weiss Syndrome

Human phenotypes related to Jackson-Weiss Syndrome:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 broad hallux phalanx 58 31 hallmark (90%) Very frequent (99-80%) HP:0010059
3 turricephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000262
4 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
5 short metatarsal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010743
6 broad metatarsal 58 31 hallmark (90%) Very frequent (99-80%) HP:0001783
7 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
8 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
9 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
10 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
11 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
12 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
13 convex nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000444
14 underdeveloped supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0009891
15 abnormal palate morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000174
16 symphalangism affecting the phalanges of the hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0009773
17 abnormality of fibula morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002991
18 split foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001839
19 preaxial foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001841
20 2-3 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004691
21 malar flattening 31 HP:0000272
22 craniosynostosis 31 HP:0001363
23 toe syndactyly 58 Very frequent (99-80%)
24 hallux varus 31 HP:0008080
25 broad hallux 31 HP:0010055
26 calcaneonavicular fusion 31 HP:0008122

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Skull:
craniosynostosis

Skeletal Feet:
medially deviated, broad great toes
cutaneous syndactyly of second and third toes
short, broad metatarsal
tarsonavicular and calcaneonavicular fusion

Head And Neck Face:
midface hypoplasia

Clinical features from OMIM®:

123150 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Jackson-Weiss Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.97 ARID1B ATE1 FGF10 FGFR1 FGFR2 FGFR3
2 digestive/alimentary MP:0005381 9.87 ATE1 FGF10 FGFR1 FGFR2 FGFR3 MSX2
3 hearing/vestibular/ear MP:0005377 9.73 FGF10 FGFR1 FGFR2 FGFR3 HMX2 MSX2
4 muscle MP:0005369 9.7 ARID1B ATE1 FGF10 FGFR1 FGFR2 HMX2
5 renal/urinary system MP:0005367 9.56 ARID1B ATE1 C16orf89 FGF10 FGFR1 FGFR2
6 skeleton MP:0005390 9.32 ATE1 C16orf89 FGF10 FGFR1 FGFR2 FGFR3

Drugs & Therapeutics for Jackson-Weiss Syndrome

Search Clinical Trials , NIH Clinical Center for Jackson-Weiss Syndrome

Cochrane evidence based reviews: jackson-weiss syndrome

Genetic Tests for Jackson-Weiss Syndrome

Genetic tests related to Jackson-Weiss Syndrome:

# Genetic test Affiliating Genes
1 Jackson-Weiss Syndrome 29 FGFR1 FGFR2

Anatomical Context for Jackson-Weiss Syndrome

Publications for Jackson-Weiss Syndrome

Articles related to Jackson-Weiss Syndrome:

(show all 37)
# Title Authors PMID Year
1
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 6 61 57 54
7874170 1994
2
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 61 57 6
10861678 2000
3
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. 6 57
8644708 1996
4
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. 6 61 54
9385368 1997
5
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 6 54 61
7581378 1995
6
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 54 6 61
8528214 1995
7
Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred. 57 61
11343323 2001
8
Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26. 57 61
7806229 1994
9
FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 6
26362256 2015
10
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. 6
14613973 2004
11
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 6
10633130 2000
12
Lumpers, splitters, and FGFRs. 57
8737660 1996
13
A matter of reading English. 57
8737661 1996
14
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 6
7719345 1995
15
Craniofacial syndromes: no such thing as a single gene disease. 6
7719329 1995
16
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. 6
7874169 1994
17
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 6
7987400 1994
18
Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. 57
8188211 1994
19
On the classification of the acrocephalosyndactyly syndromes. 57
908170 1977
20
Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. 57
1271196 1976
21
[The molecular genetic background of hereditary craniosynostoses and chondrodysplasias]. 54 61
11571861 2001
22
Surgical Management of Complex Syndromic Craniosynostosis: Experience With a Rare Genetic Variant. 61
31764549 2020
23
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. 61
31512363 2019
24
Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo FGFR2 Pathogenic Variant. 61
31122048 2019
25
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. 61
27683237 2017
26
Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. 61
25441602 2014
27
Screening of mutations affecting protein stability and dynamics of FGFR1-A simulation analysis. 61
27896051 2012
28
Syndromic craniosynostosis: from history to hydrogen bonds. 54
17552943 2007
29
Molecular and cellular bases of syndromic craniosynostoses. 54
14987407 2003
30
Jackson-Weiss syndrome. 61
11343324 2001
31
Short-limb skeletal dysplasias and craniosynostosis: what do they have in common? 61
9133360 1997
32
A 19-week-old fetus with craniosynostosis, renal agenesis and gastroschisis: case report and differential diagnosis. 61
9406252 1997
33
[Frequent missense mutations of fibroblast growth factor receptor (FGFR) gene families in craniofacial syndromes in Japanese patients]. 61
8676563 1996
34
Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes. 61
10830010 1996
35
Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter. 61
8092187 1994
36
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. 61
8128964 1994
37
Jackson-Weiss syndrome registered in four successive generations. The facies of Crouzon's syndrome with foot abnormalities. 61
7924855 1994

Variations for Jackson-Weiss Syndrome

ClinVar genetic disease variations for Jackson-Weiss Syndrome:

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR2 NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) SNV Pathogenic 13269 rs121918492 GRCh37: 10:123276886-123276886
GRCh38: 10:121517372-121517372
2 FGFR2 NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) SNV Pathogenic 13276 rs121918497 GRCh37: 10:123279566-123279566
GRCh38: 10:121520052-121520052
3 FGFR2 NM_000141.5(FGFR2):c.1025G>T (p.Cys342Phe) SNV Pathogenic 374819 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
4 FGFR2 NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) SNV Pathogenic 374820 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
5 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) SNV Pathogenic 478046 rs1554927408 GRCh37: 10:123274768-123274768
GRCh38: 10:121515254-121515254
6 FGFR2 NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) SNV Pathogenic 13266 rs121918488 GRCh37: 10:123276893-123276893
GRCh38: 10:121517379-121517379
7 FGFR2 NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) SNV Pathogenic 13267 rs121918488 GRCh37: 10:123276893-123276893
GRCh38: 10:121517379-121517379
8 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic 13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
9 FGFR2 NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) SNV Pathogenic 449024 rs1434545235 GRCh37: 10:123325014-123325014
GRCh38: 10:121565500-121565500
10 FGFR1 NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) SNV Pathogenic 16279 rs121909627 GRCh37: 8:38282208-38282208
GRCh38: 8:38424690-38424690
11 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic 13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
12 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Pathogenic 13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
13 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) SNV Pathogenic 13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
14 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic 13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
15 FGFR1 NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) SNV Likely pathogenic 16299 rs121909641 GRCh37: 8:38277238-38277238
GRCh38: 8:38419720-38419720
16 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) SNV Likely pathogenic 374817 rs1057519044 GRCh37: 10:123276904-123276904
GRCh38: 10:121517390-121517390
17 FGFR2 NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) SNV Uncertain significance 577711 rs199757302 GRCh37: 10:123276928-123276928
GRCh38: 10:121517414-121517414
18 FGFR1 NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) SNV Uncertain significance 16289 rs121909633 GRCh37: 8:38282064-38282064
GRCh38: 8:38424546-38424546
19 FGFR1 NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) SNV Uncertain significance 689761 rs1260404537 GRCh37: 8:38287269-38287269
GRCh38: 8:38429751-38429751
20 FGFR2 NM_022970.3(FGFR2):c.110-22TC[3] Microsatellite Uncertain significance 299010 rs773932794 GRCh37: 10:123325233-123325234
GRCh38: 10:121565719-121565720
21 FGFR1 NM_023110.3(FGFR1):c.391G>A (p.Asp131Asn) SNV Uncertain significance 1030827 GRCh37: 8:38285921-38285921
GRCh38: 8:38428403-38428403
22 FGFR2 NM_000141.5(FGFR2):c.*736dup Duplication Uncertain significance 298984 rs886046762 GRCh37: 10:123238634-123238635
GRCh38: 10:121479120-121479121
23 FGFR2 NM_000141.5(FGFR2):c.-298_-297dup Duplication Likely benign 299020 rs41301549 GRCh37: 10:123357621-123357622
GRCh38: 10:121598107-121598108
24 FGFR2 NM_000141.5(FGFR2):c.*641_*644del Deletion Likely benign 298986 rs548465887 GRCh37: 10:123238727-123238730
GRCh38: 10:121479213-121479216
25 FGFR2 NM_000141.5(FGFR2):c.*1498_*1502del Deletion Likely benign 298974 rs566259479 GRCh37: 10:123237869-123237873
GRCh38: 10:121478355-121478359
26 FGFR2 NM_000141.5(FGFR2):c.*197del Deletion Likely benign 298992 rs748777325 GRCh37: 10:123239174-123239174
GRCh38: 10:121479660-121479660

UniProtKB/Swiss-Prot genetic disease variations for Jackson-Weiss Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 FGFR1 p.Pro252Arg VAR_004111 rs121909627
2 FGFR2 p.Cys278Phe VAR_004121 rs776587763
3 FGFR2 p.Gln289Pro VAR_004123 rs121918497
4 FGFR2 p.Cys342Arg VAR_004137 rs121918488
5 FGFR2 p.Cys342Ser VAR_004138 rs121918488
6 FGFR2 p.Ala344Gly VAR_004140 rs121918492

Expression for Jackson-Weiss Syndrome

Search GEO for disease gene expression data for Jackson-Weiss Syndrome.

Pathways for Jackson-Weiss Syndrome

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 FGFR3 FGFR2 FGFR1 FGF10
2
Show member pathways
12.18 FGFR3 FGFR2 FGFR1 FGF10
3
Show member pathways
12.18 FGFR3 FGFR2 FGFR1 FGF10
4
Show member pathways
12.12 FGFR3 FGFR2 FGFR1 FGF10
5
Show member pathways
12.06 FGFR3 FGFR2 FGFR1 FGF10
6
Show member pathways
11.96 FGFR3 FGFR2 FGFR1 FGF10
7
Show member pathways
11.82 FGFR3 FGFR2 FGFR1 FGF10
8 11.64 FGFR3 FGFR2 FGFR1
9 11.53 FGFR3 FGFR1 FGF10
10 11.52 FGFR3 FGFR2 FGFR1 FGF10
11 11.45 FGFR3 FGFR2 FGFR1
12 11.4 PHKA2 FGFR3 FGFR2 FGFR1 FGF10
13 11.27 MSX2 FGFR3 FGFR2 FGFR1
14 11.09 FGFR3 FGFR2 FGFR1
15 10.97 FGFR3 FGFR2 FGFR1

GO Terms for Jackson-Weiss Syndrome

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.99 HMX2 FGFR3 FGFR2 FGFR1 FGF10
2 MAPK cascade GO:0000165 9.9 FGFR3 FGFR2 FGFR1 FGF10
3 peptidyl-tyrosine phosphorylation GO:0018108 9.8 FGFR3 FGFR2 FGFR1
4 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.79 FGFR3 FGFR2 FGFR1
5 positive regulation of protein kinase B signaling GO:0051897 9.76 FGFR3 FGFR2 FGFR1 FGF10
6 positive regulation of kinase activity GO:0033674 9.73 FGFR3 FGFR2 FGFR1
7 positive regulation of MAPK cascade GO:0043410 9.71 FGFR3 FGFR2 FGFR1 FGF10
8 inner ear morphogenesis GO:0042472 9.65 HMX2 FGFR2 FGF10
9 regulation of smoothened signaling pathway GO:0008589 9.62 FGFR2 FGF10
10 embryonic digestive tract morphogenesis GO:0048557 9.61 FGFR2 FGF10
11 branching involved in salivary gland morphogenesis GO:0060445 9.58 FGFR2 FGF10
12 limb bud formation GO:0060174 9.58 FGFR2 FGF10
13 organ growth GO:0035265 9.57 FGFR2 FGF10
14 endochondral bone growth GO:0003416 9.55 FGFR3 FGFR2
15 bud elongation involved in lung branching GO:0060449 9.54 FGFR2 FGF10
16 epidermis morphogenesis GO:0048730 9.52 FGFR2 FGF10
17 lacrimal gland development GO:0032808 9.51 FGFR2 FGF10
18 otic vesicle formation GO:0030916 9.49 FGFR2 FGF10
19 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.43 FGFR2 FGF10
20 mesenchymal cell differentiation involved in lung development GO:0060915 9.37 FGFR2 FGF10
21 branch elongation involved in salivary gland morphogenesis GO:0060667 9.32 FGFR2 FGF10
22 mammary gland bud formation GO:0060615 9.26 FGFR2 FGF10
23 fibroblast growth factor receptor signaling pathway GO:0008543 9.26 FGFR3 FGFR2 FGFR1 FGF10
24 fibroblast growth factor receptor signaling pathway involved in mammary gland specification GO:0060595 9.16 FGFR2 FGF10
25 positive regulation of phospholipase activity GO:0010518 8.8 FGFR3 FGFR2 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.43 FGFR3 FGFR2 FGFR1
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 FGFR3 FGFR2 FGFR1
3 fibroblast growth factor binding GO:0017134 9.13 FGFR3 FGFR2 FGFR1
4 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR3 FGFR2 FGFR1

Sources for Jackson-Weiss Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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