Details of Disease

General Information of Disease (ID: DISVSNPT)

• Disease Name: Osteoglophonic dwarfism
• Synonyms: Fairbank-Keats syndrome; OGD; Osteoglosphonic dysplasia; OSTEOGLOPHONIC dysplasia; osteoglophonic dwarfism
• Definition: Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISPPN0O: Musculoskeletal disorder
  DISVSNPT: Osteoglophonic dwarfism
• Disease Identifiers:
  MONDO ID: MONDO_0008150
  MESH ID: C536050
  UMLS CUI: C0432283
  OMIM ID: 166250
  MedGen ID: 96592
  Orphanet ID: 2645
  SNOMED CT ID: 254144002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR1	TTRLW2X	Limited	Genetic Variation	[1]
GLRX	TTRJCNG	Strong	Altered Expression	[2]
SLC1A2	TT2F078	Strong	Biomarker	[3]
USP8	TT1J07C	Strong	Biomarker	[4]
FGFR1	TTRLW2X	Definitive	Autosomal dominant	[5]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A37	DTLBGTZ	Strong	Genetic Variation	[6]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FKBP3	OT7ETKPE	Strong	Biomarker	[7]
FXYD1	OTNKT6GP	Strong	Altered Expression	[8]
MOAP1	OTVF3LUG	Strong	Biomarker	[9]
NEUROG2	OTAEMIGT	Strong	Altered Expression	[10]
RNF41	OTN1DQOY	Strong	Altered Expression	[4]
RNPS1	OT7G4COD	Strong	Altered Expression	[11]
TSPAN33	OTH6C0WU	Strong	Altered Expression	[12]
FGFR1	OT4GLCXW	Definitive	Autosomal dominant	[5]

References

• [1] Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.Eur J Med Genet. 2020 Feb;63(2):103729. doi: 10.1016/j.ejmg.2019.103729. Epub 2019 Jul 15.
• [2] The protective effect of glutaredoxin 1/DJ-1/HSP70 signaling in renal tubular epithelial cells injury induced by ischemia.Life Sci. 2019 Apr 15;223:88-94. doi: 10.1016/j.lfs.2019.03.015. Epub 2019 Mar 8.
• [3] The mechanism of GLT-1 mediating cerebral ischemic injury depends on the activation of p38 MAPK.Brain Res Bull. 2019 Apr;147:1-13. doi: 10.1016/j.brainresbull.2019.01.028. Epub 2019 Feb 4.
• [4] Nrdp1 Increases Ischemia Induced Primary Rat Cerebral Cortical Neurons and Pheochromocytoma Cells Apoptosis Via Downregulation of HIF-1 Protein.Front Cell Neurosci. 2017 Sep 20;11:293. doi: 10.3389/fncel.2017.00293. eCollection 2017.
• [5] Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet. 2005 Feb;76(2):361-7. doi: 10.1086/427956. Epub 2004 Dec 28.
• [6] Secondary Release of Exosomes From Astrocytes Contributes to the Increase in Neural Plasticity and Improvement of Functional Recovery After Stroke in Rats Treated With Exosomes Harvested From MicroRNA 133b-Overexpressing Multipotent Mesenchymal Stromal Cells.Cell Transplant. 2017 Feb 16;26(2):243-257. doi: 10.3727/096368916X693031. Epub 2016 Sep 26.
• [7] Elucidation of the FKBP25-60S Ribosomal Protein L7a Stress Response Signaling During Ischemic Injury.Cell Physiol Biochem. 2018;47(5):2018-2030. doi: 10.1159/000491470. Epub 2018 Jul 3.
• [8] Adenosine A(2A) receptor inhibition restores the normal transport of endothelial glutamate transporters in the brain.Biochem Biophys Res Commun. 2018 Apr 15;498(4):795-802. doi: 10.1016/j.bbrc.2018.03.060. Epub 2018 Mar 16.
• [9] Modulator of apoptosis-1 is a potential therapeutic target in acute ischemic injury.J Cereb Blood Flow Metab. 2019 Dec;39(12):2406-2418. doi: 10.1177/0271678X18794839. Epub 2018 Aug 22.
• [10] TAT-Ngn2 Enhances Cognitive Function Recovery and Regulates Caspase-Dependent and Mitochondrial Apoptotic Pathways After Experimental Stroke.Front Cell Neurosci. 2018 Dec 14;12:475. doi: 10.3389/fncel.2018.00475. eCollection 2018.
• [11] RNPS1 inhibition aggravates ischemic brain injury and promotes neuronal death.Biochem Biophys Res Commun. 2020 Feb 26;523(1):39-45. doi: 10.1016/j.bbrc.2019.11.185. Epub 2019 Dec 9.
• [12] Role of acute-phase protein ORM in a mice model of ischemic stroke.J Cell Physiol. 2019 Nov;234(11):20533-20545. doi: 10.1002/jcp.28653. Epub 2019 Apr 26.