Details of Disease | DrugMAP

General Information of Disease (ID: DISV7OEV)

Disease Name	Alpha thalassemia-X-linked intellectual disability syndrome
Synonyms	ATRX syndrome; Alpha-thalassemia-X-linked intellectual disability syndrome; XLMR hypotonic face syndrome; Alpha-thalassemia/mental retardation syndrome, Nondeletion type; Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked; ALPHA-thalassemia/intellectual disability syndrome, X-linked; ALPHA-thalassemia/mental retardation syndrome, X-linked; ATR, Nondeletion type; Alpha-thalassemia X-linked intellectual disability syndrome; Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked; Alpha-thalassemia/intellectual disability syndrome, Nondeletion type; ATRX; alpha-thalassemia/mental retardation syndrome nondeletion type; alpha-thalassemia/intellectual disability syndrome nondeletion type; Alpha thalassemia/intellectual disability syndrome X-linked; alpha thalassemia-X-linked intellectual disability syndrome; Alpha thalassemia X-linked mental retardation syndrome; Alpha Thalassemia X-linked Intellectual Disability Syndrome; alpha-thalassemia/mental retardation syndrome, X-linked dominant; Alpha thalassemia/mental retardation syndrome X-linked; ATR-X syndrome; Alpha thalassemia X-linked intellectual disability syndrome; ATR, nondeletion type
Definition	X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.\|Editor note: in DO this is indirectly classified as AR, which is wrong. Here we separate AT from AT-like diseases.
Disease Hierarchy	DISBS7R7: ATR-X-related syndrome DIS78CGG: 46,XY disorder of sex development DISV7OEV: Alpha thalassemia-X-linked intellectual disability syndrome
Disease Identifiers	MONDO ID MONDO_0010519 MESH ID C538258 UMLS CUI C1845055 OMIM ID 301040 MedGen ID 337145 Orphanet ID 847 SNOMED CT ID 715342005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SMARCA4	TTVQEZS	Limited	Biomarker	[1]
KDM3A	TTKXS4A	Strong	Biomarker	[2]
MGMT	TTJ8DV7	Strong	Altered Expression	[3]
ATR	TT8ZYBQ	Definitive	Genetic Variation	[4]
IDH1	TTV2A1R	Definitive	Genetic Variation	[5]
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This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARHGAP26	OTNGQU7A	Limited	Altered Expression	[6]
SMARCA2	OTSGJ8SV	Limited	Biomarker	[1]
DAXX	OTX6O7PL	Strong	Biomarker	[7]
H3-3B	OT9XHQ3C	Strong	Genetic Variation	[8]
MED12	OTQZ4D2X	Strong	Biomarker	[9]
PHOX2B	OT3SFR2O	Strong	Genetic Variation	[10]
ATRX	OT77RSQW	Definitive	X-linked	[11]
SMARCA1	OT0Y6PTU	Definitive	Biomarker	[1]
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⏷ Show the Full List of 8 DOT(s)

References

1	X-linked -thalassemia with mental retardation is downstream of protein kinase A in the meiotic cell cycle signaling cascade in Xenopus oocytes and is dynamically regulated in response to DNA damage?"O'Shea LC. Hensey C."
2	A potential common role of the Jumonji C domain-containing 1A histone demethylase and chromatin remodeler ATRX in promoting colon cancer.Oncol Lett. 2018 Nov;16(5):6652-6662. doi: 10.3892/ol.2018.9487. Epub 2018 Sep 24.
3	In Vivo Molecular Profiling of Human Glioma : Cross-Sectional Observational Study Using Dynamic Susceptibility Contrast Magnetic Resonance Perfusion Imaging.Clin Neuroradiol. 2019 Sep;29(3):479-491. doi: 10.1007/s00062-018-0676-2. Epub 2018 Feb 21.
4	Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.Epigenetics Chromatin. 2017 Mar 10;10:10. doi: 10.1186/s13072-017-0118-4. eCollection 2017.
5	High frequency of H3K27M immunopositivity in adult thalamic glioblastoma.Neuropathology. 2019 Apr;39(2):78-84. doi: 10.1111/neup.12537.
6	Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.BMC Med Genomics. 2010 Jul 6;3:28. doi: 10.1186/1755-8794-3-28.
7	Brain Tumors of Glial Origin.Adv Exp Med Biol. 2019;1190:281-297. doi: 10.1007/978-981-32-9636-7_18.
8	Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations.Acta Neuropathol. 2012 Nov;124(5):615-25. doi: 10.1007/s00401-012-1031-3. Epub 2012 Aug 12.
9	Molecular biomarkers for uterine leiomyosarcoma and endometrial stromal sarcoma.Cancer Sci. 2018 Jun;109(6):1743-1752. doi: 10.1111/cas.13613. Epub 2018 May 23.
10	New insights into the genetics of neuroblastoma.Mol Diagn Ther. 2013 Apr;17(2):63-9. doi: 10.1007/s40291-013-0019-6.
11	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.