Details of Disease

General Information of Disease (ID: DISZ8FTZ)

Disease Name Brachydactyly type C
Synonyms brachydactyly, Haws type; brachydactyly, type C; brachydactyly Haws type; brachydactyly type C
Disease Hierarchy
DIS2533F: Brachydactyly
DISZ8FTZ: Brachydactyly type C
Disease Identifiers
MONDO ID
MONDO_0007221
MESH ID
C537093
UMLS CUI
C1862103
OMIM ID
113100
MedGen ID
350590
HPO ID
HP:0009373
Orphanet ID
93384

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
KIR2DL3 TTEX3SI Strong Genetic Variation [1]
LAMB3 TT2WOUQ Strong Biomarker [2]
ENPP3 TTD4TKP Definitive Biomarker [3]
GDF5 TT37XV9 Definitive Semidominant [4]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BMPR1B OTGFN0OD Limited Genetic Variation [5]
BTC OTW4B2O0 Strong Biomarker [6]
KAT8 OT5LPQTR Strong Biomarker [6]
MGAT3 OTXI5X4T Strong Altered Expression [7]
GDF5 OTOV8S81 Definitive Semidominant [4]
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References

1 Imbalance of Genes Encoding Natural Killer Immunoglobulin-Like Receptors and Human Leukocyte Antigen in Patients With Biliary Cancer.Gastroenterology. 2019 Oct;157(4):1067-1080.e9. doi: 10.1053/j.gastro.2019.06.023. Epub 2019 Jun 21.
2 microRNA-329 suppresses epithelial-to-mesenchymal transition and lymph node metastasis in bile duct cancer by inhibiting laminin subunit beta 3.J Cell Physiol. 2019 Aug;234(10):17786-17799. doi: 10.1002/jcp.28404. Epub 2019 Mar 18.
3 Expression and localization of ecto-nucleotide pyrophosphatase/phosphodiesterase I-1 (E-NPP1/PC-1) and -3 (E-NPP3/CD203c/PD-Ibeta/B10/gp130(RB13-6)) in inflammatory and neoplastic bile duct diseases.Cancer Lett. 2004 Apr 30;207(2):139-47. doi: 10.1016/j.canlet.2003.11.002.
4 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
5 A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.Eur J Hum Genet. 2006 Dec;14(12):1248-54. doi: 10.1038/sj.ejhg.5201708. Epub 2006 Sep 6.
6 Building MOF Nanocomposites with Oxidized Graphitic Carbon Nitride Nanospheres: The Effect of Framework Geometry on the Structural Heterogeneity.Molecules. 2019 Dec 11;24(24):4529. doi: 10.3390/molecules24244529.
7 Curcumin and Novel Synthetic Analogs in Cell-Based Studies of Alzheimer's Disease.Front Pharmacol. 2018 Dec 3;9:1404. doi: 10.3389/fphar.2018.01404. eCollection 2018.