Details of Disease

General Information of Disease (ID: DISR2J8Q)

Disease Name Al-Raqad syndrome
Synonyms ARS; AL-RAQAD syndrome; Al-Raqad syndrome
Disease Hierarchy
DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
DISR2J8Q: Al-Raqad syndrome
Disease Identifiers
MONDO ID
MONDO_0014648
UMLS CUI
C4085595
OMIM ID
616459
MedGen ID
897610

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
FOXC1 TTNT3YA Limited Genetic Variation [1]
DCPS TTLSW9V Strong Autosomal recessive [2]
DCPS TTLSW9V Strong Genetic Variation [3]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HMGN2 OTN20MEF Limited Altered Expression [4]
DCPS OT1FZVC9 Strong Autosomal recessive [2]
DLX2 OTKC2DQ0 Strong Altered Expression [5]
MYOC OT6DAHNF Strong Genetic Variation [6]
PITX2 OTWMXAOY Strong Biomarker [7]
FOXJ1 OT7LLBZ7 Definitive Genetic Variation [8]
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⏷ Show the Full List of 6 DOT(s)

References

1 Loss of foxc1 in zebrafish reduces optic nerve size and cell number in the retinal ganglion cell layer.Vision Res. 2019 Mar;156:66-72. doi: 10.1016/j.visres.2019.01.008. Epub 2019 Feb 2.
2 Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. Hum Mol Genet. 2015 Jun 1;24(11):3172-80. doi: 10.1093/hmg/ddv069. Epub 2015 Feb 20.
3 An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome.Am J Med Genet A. 2018 Dec;176(12):2781-2786. doi: 10.1002/ajmg.a.40488. Epub 2018 Oct 5.
4 A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome.Hum Mol Genet. 2014 Jan 1;23(1):194-208. doi: 10.1093/hmg/ddt411. Epub 2013 Aug 23.
5 Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein.Biochemistry. 2005 Mar 15;44(10):3942-54. doi: 10.1021/bi048362x.
6 Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.Mol Vis. 2013 Aug 4;19:1707-22. Print 2013.
7 Novel PITX2 mutations identified in Axenfeld-Rieger syndrome and the pattern of PITX2-related tooth agenesis.Oral Dis. 2019 Nov;25(8):2010-2019. doi: 10.1111/odi.13196. Epub 2019 Oct 8.
8 Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis.Hum Mol Genet. 2008 Dec 1;17(23):3643-54. doi: 10.1093/hmg/ddn258. Epub 2008 Aug 22.