Details of Disease

General Information of Disease (ID: DISMJAT7)

Disease Name Coxopodopatellar syndrome
Synonyms
congenital coxa vara, patella aplasia and tarsal synostosis; SPS; ischiocoxopodopatellar syndrome; Coxo-podo-patellar syndrome; patella aplasia, coxa vara, tarsal synostosis; ICPPS; ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; ischiopatellar dysplasia; small patella syndrome; coxopodopatellar syndrome; Scott-Taor syndrome
Definition Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DISMJAT7: Coxopodopatellar syndrome
Disease Identifiers
MONDO ID
MONDO_0007841
MESH ID
C535540
UMLS CUI
C1840061
OMIM ID
147891
MedGen ID
333474
Orphanet ID
1509
SNOMED CT ID
720752007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GP6 TTTJUVZ Limited Genetic Variation [1]
OPRL1 TTNT7K8 Strong Biomarker [2]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDSS1 OTXGVHAB Limited Biomarker [3]
POU2F3 OTIOOJWD Limited Genetic Variation [4]
SEPHS1 OTZ19I59 Limited Biomarker [3]
SMS OT8JYKNH Limited Biomarker [3]
PEAR1 OT2XLTB2 Strong Genetic Variation [5]
PNOC OTJEAADN Strong Biomarker [2]
TBX4 OTW58FG4 Definitive Autosomal dominant [6]
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⏷ Show the Full List of 7 DOT(s)

References

1 GP6 Haplotype of Missense Variants is Associated with Sticky Platelet Syndrome Manifested by Fetal Loss.Clin Appl Thromb Hemost. 2018 Jan;24(1):63-69. doi: 10.1177/1076029616685428. Epub 2017 Jan 2.
2 Sex Differences in Nociceptin/Orphanin FQ Peptide Receptor-Mediated Pain and Anxiety Symptoms in a Preclinical Model of Post-traumatic Stress Disorder.Front Psychiatry. 2019 Jan 8;9:731. doi: 10.3389/fpsyt.2018.00731. eCollection 2018.
3 Spatial and temporal regulation of the endoproteolytic activity of the SPS-sensor-controlled Ssy5 signaling protease.Mol Biol Cell. 2019 Oct 1;30(21):2709-2720. doi: 10.1091/mbc.E19-02-0096. Epub 2019 Aug 28.
4 Primary thrombophilia in Mexico IX: the glycoprotein IIIa PLA1/A2 polymorphism is not associated with the sticky platelet syndrome phenotype.Clin Appl Thromb Hemost. 2013 Nov-Dec;19(6):689-92. doi: 10.1177/1076029612448418. Epub 2012 Jun 29.
5 Different models of inheritance in selected genes in patients with sticky platelet syndrome and fetal loss.Semin Thromb Hemost. 2015 Apr;41(3):330-5. doi: 10.1055/s-0034-1395351. Epub 2015 Feb 19.
6 The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome. J Med Genet. 2001 Mar;38(3):209-14. doi: 10.1136/jmg.38.3.209.