Details of Disease

General Information of Disease (ID: DISEL7RK)

Disease Name X-linked intellectual disability with marfanoid habitus
Synonyms
intellectual disability, X-linked, with Marfanoid habitus; LUJAN-Fryns syndrome; Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies; mental retardation, X-linked, with Marfanoid habitus; Lujan-Fryns syndrome, X-linked recessive; Lujan syndrome; Lujan-Fryns syndrome
Definition
The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DISX8R9X: MED12-related intellectual disability syndrome
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DISEL7RK: X-linked intellectual disability with marfanoid habitus
Disease Identifiers
MONDO ID
MONDO_0010655
MESH ID
C537724
UMLS CUI
C0796022
OMIM ID
309520
MedGen ID
167096
Orphanet ID
776
SNOMED CT ID
422437002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UPF3B OTSI7RMZ Supportive X-linked [1]
ZDHHC9 OTHZT92J Supportive X-linked [2]
RCOR1 OTREADPC Strong Biomarker [3]
MED12 OTQZ4D2X Definitive X-linked [4]
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References

1 Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet. 2007 Sep;39(9):1127-33. doi: 10.1038/ng2100. Epub 2007 Aug 19.
2 Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. Clin Genet. 2013 Dec;84(6):507-21. doi: 10.1111/cge.12094. Epub 2013 Mar 18.
3 Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.Mol Cell. 2008 Aug 8;31(3):347-59. doi: 10.1016/j.molcel.2008.05.023.
4 Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. Clin Med Insights Case Rep. 2016 Dec 4;9:115-118. doi: 10.4137/CCRep.S41083. eCollection 2016.