Lujan Syndrome (LFS)

Categories: Rare diseases

Aliases & Classifications for Lujan Syndrome

MalaCards integrated aliases for Lujan Syndrome:

Name: Lujan Syndrome 20 43
X-Linked Mental Retardation with Marfanoid Habitus Syndrome 29 6
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size and Distinct Craniofacial Anomalies 20
X-Linked Intellectual Deficit with Marfanoid Habitus 43
X-Linked Mental Retardation with Marfanoid Habitus 43
Xlmr with Marfanoid Features 43
Lujan-Fryns Syndrome 43
Lfs 43


Summaries for Lujan Syndrome

MedlinePlus Genetics : 43 Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.The intellectual disability associated with Lujan syndrome is usually mild to moderate. Behavioral problems can include hyperactivity, aggressiveness, extreme shyness, and excessive attention-seeking. Some affected individuals have features of autism or related developmental disorders affecting communication and social interaction. A few have been diagnosed with psychiatric problems such as delusions and hallucinations.Characteristic physical features of Lujan syndrome include a tall, thin body and an unusually large head (macrocephaly). Affected individuals also have a long, thin face with distinctive facial features such as a prominent top of the nose (high nasal root); a short space between the nose and the upper lip (philtrum); a narrow roof of the mouth (palate); crowded teeth; and a small chin (micrognathia). Almost all people with this condition have weak muscle tone (hypotonia).Additional signs and symptoms of Lujan syndrome can include abnormal speech, heart defects, and abnormalities of the genitourinary system. Many affected individuals have long fingers and toes with an unusually large range of joint movement (hyperextensibility). Seizures and abnormalities of the tissue that connects the left and right halves of the brain (corpus callosum) have also been reported in people with this condition.

MalaCards based summary : Lujan Syndrome, also known as x-linked mental retardation with marfanoid habitus syndrome, is related to li-fraumeni syndrome and x-linked intellectual disability with marfanoid habitus. An important gene associated with Lujan Syndrome is MED12 (Mediator Complex Subunit 12).

GARD : 20 Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone ( hypotonia ). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). Most of the cases occur in males. Lujan syndrome is caused by changes ( mutations ) in the MED12 gene and is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include special education; physical therapy, occupational therapy, and speech therapy for developmental delays; and medications to control seizures.

Related Diseases for Lujan Syndrome

Graphical network of the top 20 diseases related to Lujan Syndrome:

Diseases related to Lujan Syndrome

Symptoms & Phenotypes for Lujan Syndrome

Drugs & Therapeutics for Lujan Syndrome

Search Clinical Trials , NIH Clinical Center for Lujan Syndrome

Genetic Tests for Lujan Syndrome

Genetic tests related to Lujan Syndrome:

# Genetic test Affiliating Genes
1 X-Linked Mental Retardation with Marfanoid Habitus Syndrome 29 MED12

Anatomical Context for Lujan Syndrome

Publications for Lujan Syndrome

Articles related to Lujan Syndrome:

(show all 13)
# Title Authors PMID Year
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. 6 61
18691967 2008
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. 6 61
17369503 2007
A form of X-linked mental retardation with marfanoid habitus. 6
6711603 1984
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females. 61
33244166 2020
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. 61
30729724 2019
A novel variant in MED12 gene: Further delineation of phenotype. 61
28544239 2017
Two male sibs with severe micrognathia and a missense variant in MED12. 61
27286923 2016
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. 61
24039113 2013
MED12 related disorders. 61
24123922 2013
MED12 mutations in human diseases. 61
23836153 2013
MED12-Related Disorders 61
20301719 2008
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). 61
16831221 2006
Lujan syndrome in a Mexican boy. 61
1605262 1992

Variations for Lujan Syndrome

ClinVar genetic disease variations for Lujan Syndrome:

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MED12 NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) SNV Pathogenic 11521 rs80338759 GRCh37: X:70347781-70347781
GRCh38: X:71127931-71127931
2 MED12 NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) SNV Pathogenic 11520 rs80338758 GRCh37: X:70347217-70347217
GRCh38: X:71127367-71127367
3 MED12 NM_005120.3(MED12):c.6408+1G>A SNV Pathogenic 1028860 GRCh37: X:70361221-70361221
GRCh38: X:71141371-71141371
4 MED12 NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) SNV Likely pathogenic 213633 rs765417606 GRCh37: X:70344113-70344113
GRCh38: X:71124263-71124263
5 MED12 NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) SNV Uncertain significance 213631 rs752300879 GRCh37: X:70341604-70341604
GRCh38: X:71121754-71121754
6 MED12 NM_005120.3(MED12):c.6097A>G (p.Met2033Val) SNV Uncertain significance 213627 rs372606012 GRCh37: X:70360537-70360537
GRCh38: X:71140687-71140687
7 MED12 NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys) SNV Uncertain significance 1028858 GRCh37: X:70349201-70349201
GRCh38: X:71129351-71129351
8 MED12 NM_005120.3(MED12):c.3692-7A>G SNV Uncertain significance 1028859 GRCh37: X:70349523-70349523
GRCh38: X:71129673-71129673
9 MED12 NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) SNV Uncertain significance 213632 rs368913305 GRCh37: X:70342373-70342373
GRCh38: X:71122523-71122523
10 MED12 NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) SNV Uncertain significance 213641 rs777250096 GRCh37: X:70350038-70350038
GRCh38: X:71130188-71130188
11 MED12 NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys) SNV Uncertain significance 976133 GRCh37: X:70349228-70349228
GRCh38: X:71129378-71129378
12 MED12 NM_005120.3(MED12):c.2663G>C (p.Gly888Ala) SNV Uncertain significance 983038 GRCh37: X:70346312-70346312
GRCh38: X:71126462-71126462
13 MED12 NM_005120.3(MED12):c.1439T>C (p.Leu480Pro) SNV Uncertain significance 983040 GRCh37: X:70342678-70342678
GRCh38: X:71122828-71122828
14 MED12 NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln) SNV Uncertain significance 930328 GRCh37: X:70349580-70349580
GRCh38: X:71129730-71129730
15 MED12 NM_005120.3(MED12):c.1996A>G (p.Met666Val) SNV Uncertain significance 931587 GRCh37: X:70344635-70344635
GRCh38: X:71124785-71124785
16 MED12 NM_005120.3(MED12):c.2545T>C (p.Ser849Pro) SNV Uncertain significance 431098 rs1135401775 GRCh37: X:70346194-70346194
GRCh38: X:71126344-71126344
17 MED12 NM_005120.3(MED12):c.628G>C (p.Ala210Pro) SNV Uncertain significance 560275 rs1379201163 GRCh37: X:70340895-70340895
GRCh38: X:71121045-71121045
18 MED12 NM_005120.3(MED12):c.5017_5019AAG[1] (p.Lys1674del) Microsatellite Uncertain significance 620067 GRCh37: X:70355095-70355097
GRCh38: X:71135245-71135247
19 MED12 NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu) SNV Uncertain significance 973226 GRCh37: X:70349963-70349963
GRCh38: X:71130113-71130113
20 MED12 NM_005120.3(MED12):c.2023C>T (p.Leu675Phe) SNV Uncertain significance 619996 GRCh37: X:70344662-70344662
GRCh38: X:71124812-71124812
21 MED12 NM_005120.3(MED12):c.2982-20C>T SNV Likely benign 931359 GRCh37: X:70347723-70347723
GRCh38: X:71127873-71127873
22 MED12 NM_005120.3(MED12):c.934G>C (p.Val312Leu) SNV Likely benign 129589 rs377403264 GRCh37: X:70341499-70341499
GRCh38: X:71121649-71121649

Expression for Lujan Syndrome

Search GEO for disease gene expression data for Lujan Syndrome.

Pathways for Lujan Syndrome

GO Terms for Lujan Syndrome

Sources for Lujan Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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