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Syndromic X-linked mental retardation due to JARID1C mutation

Disease ID:1169
Name:Syndromic X-linked mental retardation due to JARID1C mutation
Associated with:1 target
Synonyms
Mental retardation, X-linked, syndromic, Claes-Jensen type
Description
This syndrome is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems.
Database Links
OMIM: 300534
Orphanet: ORPHA85279

Targets

lysine demethylase 5C
Comments:  To date more than ten JARID1C mutations have been reported in patients with X-linked mental retardation. The degree of mental retardation associated with JARID1C mutations ranges from mild to severe, and may be accompanied by additional disorders such as epilepsy, short stature, or behavioral problems.
References:  1-2

Ligands

No ligand related data available for Syndromic X-linked mental retardation due to JARID1C mutation

References

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1. Iwase S, Lan F, Bayliss P, de la Torre-Ubieta L, Huarte M, Qi HH, Whetstine JR, Bonni A, Roberts TM, Shi Y. (2007) The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. Cell, 128 (6): 1077-88. [PMID:17320160]

2. Tzschach A, Lenzner S, Moser B, Reinhardt R, Chelly J, Fryns JP, Kleefstra T, Raynaud M, Turner G, Ropers HH et al.. (2006) Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Hum. Mutat., 27 (4): 389. [PMID:16541399]