Mental retardation, X-linked 88; MRX88

Disease ID:961
Name:Mental retardation, X-linked 88; MRX88
Associated with:1 target
Synonyms
Non-specific X-linked mental retardation | X-linked non-syndromic intellectual disability
Database Links
Disease Ontology: DOID:0050776
OMIM: 300852
Orphanet: ORPHA777

Targets

AT2 receptor
Comments:  G21V, R324Q, I337V and I53F single nucleotide polymorphisms have been associated with mental retardation.
References:  1-3
Mutations:  AT2 receptor is associated with 5 mutation. Click here for details

Ligands

No ligand related data available for Mental retardation, X-linked 88; MRX88

References

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1. Bienvenu T, Poirier K, Van Esch H, Hamel B, Moraine C, Fryns JP, Ropers HH, Beldjord C, Yntema HG, Chelly J. (2003) Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation. J. Med. Genet., 40 (5): 357-9. [PMID:12746399]

2. Renieri A, Pescucci C, Longo I, Ariani F, Mari F, Meloni I. (2005) Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. J. Cell. Physiol., 204 (1): 8-20. [PMID:15690397]

3. Vervoort VS, Beachem MA, Edwards PS, Ladd S, Miller KE, de Mollerat X, Clarkson K, DuPont B, Schwartz CE, Stevenson RE, Boyd E, Srivastava AK. (2002) AGTR2 mutations in X-linked mental retardation. Science, 296: 2401-2403. [PMID:12089445]

4. Ylisaukko-oja T, Rehnström K, Vanhala R, Tengström C, Lähdetie J, Järvelä I. (2004) Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation. Hum. Genet., 114 (2): 211-3. [PMID:14598163]