LFS
MCID: LJN002
MIFTS: 22

Lujan Syndrome (LFS)

Categories: Rare diseases
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Aliases & Classifications for Lujan Syndrome

MalaCards integrated aliases for Lujan Syndrome:

Name: Lujan Syndrome 19 42
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size and Distinct Craniofacial Anomalies 19
X-Linked Intellectual Deficit with Marfanoid Habitus 42
Mental Retardation, X-Linked, with Marfanoid Habitus 5
X-Linked Mental Retardation with Marfanoid Habitus 42
Mental Retardation, X Linked, Marfanoid Habitus 75
Xlmr with Marfanoid Features 42
Lujan-Fryns Syndrome 42
Lfs 42

Classifications:



Summaries for Lujan Syndrome

MedlinePlus Genetics: 42 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 marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies, is related to li-fraumeni syndrome and syndromic x-linked intellectual disability 14. An important gene associated with Lujan Syndrome is MED12 (Mediator Complex Subunit 12). Affiliated tissues include heart, brain and eye.

GARD: 19 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 in the MED12 gene and is inherited in an X-linked manner.

Wikipedia: 75 Lujan-Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual... more...

Related Diseases for Lujan Syndrome

Diseases related to Lujan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 11.7
2 syndromic x-linked intellectual disability 14 11.3
3 adrenocortical carcinoma, hereditary 10.9
4 li-fraumeni syndrome 2 10.9
5 autism 10.5
6 autism spectrum disorder 10.4
7 atrial septal defect 1 10.3
8 pectus excavatum 10.3
9 atrial heart septal defect 10.3
10 interatrial communication 10.3
11 marfan syndrome 10.2
12 corpus callosum, agenesis of 10.2
13 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type 10.2
14 multiple congenital anomalies-neurodevelopmental syndrome, x-linked 10.2
15 phelan-mcdermid syndrome 10.2
16 ventricular septal defect 10.2
17 heart septal defect 10.2
18 psychotic disorder 10.2
19 aortic aneurysm 10.2
20 connective tissue disease 10.2
21 eating disorder 10.2
22 homocystinuria 10.2
23 16p11.2 duplication 10.2
24 intellectual developmental disorder, x-linked, syndromic, lujan-fryns type 10.1
25 bap1 tumor predisposition syndrome 10.1
26 inherited cancer-predisposing syndrome 10.1
27 fryns syndrome 10.0
28 opitz-kaveggia syndrome 10.0
29 med12-related disorders 10.0
30 hypotonia 10.0
31 breast cancer 9.9
32 dentinogenesis imperfecta 1 9.9
33 ovarian cancer 9.9
34 light fixation seizure syndrome 9.9
35 coronary heart disease 1 9.9
36 aspergillosis 9.9
37 angina pectoris 9.9
38 colitis 9.9
39 non-alcoholic fatty liver disease 9.9
40 li-fraumeni syndrome 1 9.9
41 combined immunodeficiency 9.9
42 pelvic inflammatory disease 9.9
43 urethritis 9.9
44 prostatitis 9.9
45 hepatitis 9.9
46 cervicitis 9.9
47 breast disease 9.9
48 gastric adenocarcinoma 9.9
49 arthropathy 9.9
50 liver disease 9.9

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

Anatomical Context for Lujan Syndrome

Organs/tissues related to Lujan Syndrome:

MalaCards : Heart, Brain, Eye

Publications for Lujan Syndrome

Articles related to Lujan Syndrome:

(show all 48)
# Title Authors PMID Year
1
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. 62 5
18691967 2008
2
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. 62 5
17369503 2007
3
A form of X-linked mental retardation with marfanoid habitus. 62 5
6711603 1984
4
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. 62
36271811 2022
5
Eye and ocular adnexa manifestations of MED12-related disorders. 62
34670449 2022
6
A novel nonsense variant in MED12 associated with malformations in a female fetus. 62
34987808 2021
7
MED12 Mutation in Two Families with X-Linked Ohdo Syndrome. 62
34573309 2021
8
MED12-Related (Neuro)Developmental Disorders: A Question of Causality. 62
33925166 2021
9
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females. 62
33244166 2021
10
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. 62
32277047 2020
11
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. 62
31536828 2020
12
Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report. 62
32978958 2020
13
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. 62
30729724 2019
14
A novel variant in MED12 gene: Further delineation of phenotype. 62
28544239 2017
15
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. 62
28027854 2017
16
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? 62
27500536 2016
17
Two male sibs with severe micrognathia and a missense variant in MED12. 62
27286923 2016
18
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. 62
27980443 2016
19
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? 62
26358559 2016
20
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 62
24715367 2014
21
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. 62
24039113 2013
22
MED12 related disorders. 62
24123922 2013
23
MED12 mutations in human diseases. 62
23836153 2013
24
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. 62
23338167 2013
25
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. 62
19842190 2009
26
MED12-Related Disorders 62
20301719 2008
27
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. 62
17103446 2006
28
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. 62
17036352 2006
29
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). 62
16831221 2006
30
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. 62
16760741 2006
31
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. 62
16094260 2005
32
[Syndromic autism: II. Genetic syndromes associated with autism]. 62
15736079 2005
33
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. 62
12784307 2003
34
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. 62
11807907 2002
35
[Lujan-Fryns syndrome]. 62
11528648 2001
36
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR). 62
11334618 2001
37
Aortic root dilation in apparent Lujan-Fryns syndrome. 62
10508979 1999
38
Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge. 62
9327261 1997
39
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. 62
8723050 1996
40
Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression. 62
8250152 1993
41
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. 62
8267926 1993
42
Lujan syndrome in a Mexican boy. 62
1605262 1992
43
X-linked mental retardation with marfanoid habitus. 62
2018064 1991
44
A girl with the Lujan-Fryns syndrome. 62
2018074 1991
45
X-linked mental retardation with marfanoid habitus: first report of four Italian patients. 62
2018063 1991
46
X-linked mental retardation with Marfanoid habitus: a changing phenotype with age? 62
1799424 1991
47
[Chromosome X-linked mental retardation and marfanoid syndrome]. 62
3379374 1988
48
X-linked mental retardation with marfanoid habitus. 62
3322000 1987

Variations for Lujan Syndrome

ClinVar genetic disease variations for Lujan Syndrome:

5 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MED12 NM_005120.3(MED12):c.6408+1G>A SNV Pathogenic
1028860 rs2092347488 GRCh37: X:70361221-70361221
GRCh38: X:71141371-71141371
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.3020A>G (p.Asn1007Ser) SNV Pathogenic
11521 rs80338759 GRCh37: X:70347781-70347781
GRCh38: X:71127931-71127931
4 MED12 NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) SNV Likely Pathogenic
213640 rs863223706 GRCh37: X:70349900-70349900
GRCh38: X:71130050-71130050
5 MED12 NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) SNV Likely Pathogenic
213633 rs765417606 GRCh37: X:70344113-70344113
GRCh38: X:71124263-71124263
6 MED12 NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) SNV Uncertain Significance
213631 rs752300879 GRCh37: X:70341604-70341604
GRCh38: X:71121754-71121754
7 MED12 NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) SNV Uncertain Significance
213632 rs368913305 GRCh37: X:70342373-70342373
GRCh38: X:71122523-71122523
8 MED12 NM_005120.3(MED12):c.6097A>G (p.Met2033Val) SNV Uncertain Significance
213627 rs372606012 GRCh37: X:70360537-70360537
GRCh38: X:71140687-71140687
9 MED12 NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) SNV Uncertain Significance
213641 rs777250096 GRCh37: X:70350038-70350038
GRCh38: X:71130188-71130188
10 MED12 NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu) SNV Uncertain Significance
973226 rs2092313149 GRCh37: X:70349963-70349963
GRCh38: X:71130113-71130113
11 MED12 NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys) SNV Uncertain Significance
976133 rs2092311077 GRCh37: X:70349228-70349228
GRCh38: X:71129378-71129378
12 MED12 NM_005120.3(MED12):c.1996A>G (p.Met666Val) SNV Uncertain Significance
Uncertain Significance
931587 rs1401003961 GRCh37: X:70344635-70344635
GRCh38: X:71124785-71124785
13 MED12 NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) SNV Uncertain Significance
213624 rs863223696 GRCh37: X:70351950-70351950
GRCh38: X:71132100-71132100
14 MED12 NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser) SNV Uncertain Significance
1333933 GRCh37: X:70357583-70357583
GRCh38: X:71137733-71137733
15 MED12 NM_005120.3(MED12):c.1746G>A (p.Thr582=) SNV Uncertain Significance
1526230 GRCh37: X:70344010-70344010
GRCh38: X:71124160-71124160
16 MED12 NM_005120.3(MED12):c.6428A>C (p.Gln2143Pro) SNV Uncertain Significance
1679156 GRCh37: X:70361752-70361752
GRCh38: X:71141902-71141902
17 MED12 NM_005120.3(MED12):c.4413G>A (p.Lys1471_Ser1472=) SNV Uncertain Significance
1696529 GRCh37: X:70352386-70352386
GRCh38: X:71132536-71132536
18 MED12 NM_005120.3(MED12):c.2545T>C (p.Ser849Pro) SNV Uncertain Significance
431098 rs1135401775 GRCh37: X:70346194-70346194
GRCh38: X:71126344-71126344
19 MED12 NM_005120.3(MED12):c.628G>C (p.Ala210Pro) SNV Uncertain Significance
560275 rs1379201163 GRCh37: X:70340895-70340895
GRCh38: X:71121045-71121045
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.5017AAG[1] (p.Lys1674del) MICROSAT Uncertain Significance
620067 GRCh37: X:70355095-70355097
GRCh38: X:71135245-71135247
22 MED12 NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln) SNV Uncertain Significance
930328 rs2092312145 GRCh37: X:70349580-70349580
GRCh38: X:71129730-71129730
23 MED12 NM_005120.3(MED12):c.2663G>C (p.Gly888Ala) SNV Uncertain Significance
983038 rs2092303518 GRCh37: X:70346312-70346312
GRCh38: X:71126462-71126462
24 MED12 NM_005120.3(MED12):c.1439T>C (p.Leu480Pro) SNV Uncertain Significance
983040 rs2092293046 GRCh37: X:70342678-70342678
GRCh38: X:71122828-71122828
25 MED12 NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys) SNV Uncertain Significance
1028858 rs2092311027 GRCh37: X:70349201-70349201
GRCh38: X:71129351-71129351
26 MED12 NM_005120.3(MED12):c.3692-7A>G SNV Uncertain Significance
1028859 rs1014804538 GRCh37: X:70349523-70349523
GRCh38: X:71129673-71129673
27 MED12 NM_005120.3(MED12):c.2982-20C>T SNV Likely Benign
931359 rs773211847 GRCh37: X:70347723-70347723
GRCh38: X:71127873-71127873
28 MED12 NM_005120.3(MED12):c.934G>C (p.Val312Leu) SNV Likely Benign
129589 rs377403264 GRCh37: X:70341499-70341499
GRCh38: X:71121649-71121649
29 MED12 NM_005120.3(MED12):c.3930A>C (p.Pro1310=) SNV Benign
95248 rs5030619 GRCh37: X:70349947-70349947
GRCh38: X:71130097-71130097
30 MED12 NM_005120.3(MED12):c.736-8A>C SNV Benign
95257 rs62609586 GRCh37: X:70341169-70341169
GRCh38: X:71121319-71121319
31 MED12 NM_005120.3(MED12):c.205-38C>T SNV Benign
259633 rs12850852 GRCh37: X:70339498-70339498
GRCh38: X:71119648-71119648
32 MED12 NM_005120.3(MED12):c.2422+30C>T SNV Benign
259634 rs2075790 GRCh37: X:70345593-70345593
GRCh38: X:71125743-71125743
33 MED12 NM_005120.3(MED12):c.3354+27G>C SNV Benign
259636 rs5030617 GRCh37: X:70348317-70348317
GRCh38: X:71128467-71128467
34 MED12 NM_005120.3(MED12):c.4415+29T>C SNV Benign
259637 rs10521349 GRCh37: X:70352417-70352417
GRCh38: X:71132567-71132567
35 MED12 NM_005120.3(MED12):c.1376C>T (p.Thr459Ile) SNV Not Provided
857059 rs2092292878 GRCh37: X:70342615-70342615
GRCh38: X:71122765-71122765

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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