Details of Disease

General Information of Disease (ID: DISK1CNU)

Disease Name Robinow syndrome
Synonyms
costovertebral segmentation defect with mesomelia (formerly); Covesdem syndrome (formerly); foetal face syndrome; acral dysostosis with facial and genital abnormalities; Robinow dwarfism; mesomelic dwarfism-small genitalia syndrome; Robinow-Silverman-Smith syndrome; fetal face syndrome
Definition Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.
Disease Hierarchy
DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
DIS6SVEE: Syndromic disease
DIS5Z8U6: Skeletal dysplasia
DISK1CNU: Robinow syndrome
Disease Identifiers
MONDO ID
MONDO_0019978
MESH ID
C562492
UMLS CUI
C0265205
MedGen ID
78535
Orphanet ID
97360
SNOMED CT ID
76520005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
WNT5A TTKG7F8 Disputed Genetic Variation [1]
PTPN11 TT7WUAV Strong Biomarker [2]
RAF1 TTAN5W2 Strong Biomarker [3]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DVL1 OTD67RF1 Strong Genetic Variation [4]
DVL3 OTPRROHJ Strong Genetic Variation [5]
FZD2 OT952ML1 Strong GermlineCausalMutation [4]
LZTR1 OTIDM6XO Strong Biomarker [6]
RIT1 OTVNOGOH Strong Biomarker [7]
SOS1 OTTCWXC3 Strong Biomarker [8]
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⏷ Show the Full List of 6 DOT(s)

References

1 Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.Am J Med Genet A. 2018 Apr;176(4):1030-1036. doi: 10.1002/ajmg.a.38636.
2 Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.Nat Med. 2004 Aug;10(8):849-57. doi: 10.1038/nm1084. Epub 2004 Jul 25.
3 Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.Mol Cell Biol. 2012 Oct;32(19):3872-90. doi: 10.1128/MCB.00751-12. Epub 2012 Jul 23.
4 WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21.
5 Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.Am J Med Genet A. 2018 Apr;176(4):992-996. doi: 10.1002/ajmg.a.38635.
6 Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.Science. 2018 Dec 7;362(6419):1177-1182. doi: 10.1126/science.aap7607. Epub 2018 Nov 15.
7 New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to -adrenergic stimulation-induced cardiac fibrosis.EBioMedicine. 2019 Apr;42:43-53. doi: 10.1016/j.ebiom.2019.03.014. Epub 2019 Mar 18.
8 Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndromeassociated Sos1 mutation.J Clin Invest. 2010 Dec;120(12):4353-65. doi: 10.1172/JCI43910.