Details of Disease

General Information of Disease (ID: DISRNZHH)

Disease Name Jackson-Weiss syndrome
Synonyms craniosynostosis, midfacial hypoplasia, and foot abnormalities; craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome; JWS
Definition
Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.
Disease Hierarchy
DISFIB1L: Acrocephalosyndactyly
DISRNZHH: Jackson-Weiss syndrome
Disease Identifiers
MONDO ID
MONDO_0007400
MESH ID
C537559
UMLS CUI
C0795998
OMIM ID
123150
MedGen ID
208653
Orphanet ID
1540
SNOMED CT ID
709105005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FGFR1 TTRLW2X Strong Autosomal dominant [1]
FGFR1 TTRLW2X Strong Genetic Variation [2]
FGFR2 TTGJVQM Strong Biomarker [3]
FGFR2 TTGJVQM Definitive Autosomal dominant [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NUBP2 OTYOTM2B moderate Genetic Variation [5]
FGFR1 OT4GLCXW Strong Autosomal dominant [1]
FGFR2 OTLOPACK Definitive Autosomal dominant [4]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.Am J Med Genet A. 2017 Jan;173(1):157-162. doi: 10.1002/ajmg.a.37992. Epub 2016 Sep 28.
3 Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.Genet Med. 2017 Oct;19(10):1171-1178. doi: 10.1038/gim.2017.31. Epub 2017 Apr 20.
4 Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet. 1994 Nov;8(3):275-9. doi: 10.1038/ng1194-275.
5 Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.Genomics. 1994 Jul 15;22(2):418-24. doi: 10.1006/geno.1994.1403.