Lujan Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

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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...

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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
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:

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Symptoms & Phenotypes for Lujan Syndrome

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Drugs & Therapeutics for Lujan Syndrome

Search Clinical Trials, NIH Clinical Center for Lujan Syndrome

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Genetic Tests for Lujan Syndrome

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Anatomical Context for Lujan Syndrome

Organs/tissues related to Lujan Syndrome:

MalaCards : Heart, Brain, Eye

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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	Ding N...Boyer TG	18691967	2008
2	The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. ⁶² ⁵	Schwartz CE...Stevenson RE	17369503	2007
3	A form of X-linked mental retardation with marfanoid habitus. ⁶² ⁵	Lujan JE...Lubs HA	6711603	1984
4	Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. ⁶²	Maia N...de Brouwer APM	36271811	2022
5	Eye and ocular adnexa manifestations of MED12-related disorders. ⁶²	Shah A...Couser NL	34670449	2022
6	A novel nonsense variant in MED12 associated with malformations in a female fetus. ⁶²	Faergeman SL...Vogel I	34987808	2021
7	MED12 Mutation in Two Families with X-Linked Ohdo Syndrome. ⁶²	Rocchetti L...Fico A	34573309	2021
8	MED12-Related (Neuro)Developmental Disorders: A Question of Causality. ⁶²	Plassche SV...Brouwer AP	33925166	2021
9	De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females. ⁶²	Li D...Bhoj E	33244166	2021
10	Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. ⁶²	Chevarin M...Faivre L	32277047	2020
11	MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. ⁶²	Rubinato E...Marlin S	31536828	2020
12	Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report. ⁶²	Genis B...Cosar B	32978958	2020
13	Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. ⁶²	Srivastava S...Wang T	30729724	2019
14	A novel variant in MED12 gene: Further delineation of phenotype. ⁶²	Narayanan DL...Phadke SR	28544239	2017
15	Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. ⁶²	Giorgio E...Brusco A	28027854	2017
16	De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? ⁶²	Caro-Llopis A...Martinez F	27500536	2016
17	Two male sibs with severe micrognathia and a missense variant in MED12. ⁶²	Prescott TE...Stray-Pedersen A	27286923	2016
18	Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. ⁶²	Khan A...Ayub M	27980443	2016
19	Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? ⁶²	Hackmann K...Di Donato N	26358559	2016
20	Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. ⁶²	Isidor B...David A	24715367	2014
21	Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. ⁶²	Lesca G...Lespinasse J	24039113	2013
22	MED12 related disorders. ⁶²	Graham JM...Schwartz CE	24123922	2013
23	MED12 mutations in human diseases. ⁶²	Wang H...Ye J	23836153	2013
24	Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. ⁶²	Dieckmann PM...Barsottini OG	23338167	2013
25	Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. ⁶²	du Souich C...Boerkoel CF	19842190	2009
26	MED12-Related Disorders ⁶²	Lyons MJ	20301719	2008
27	Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. ⁶²	Williams MS	17103446	2006
28	Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. ⁶²	Lerma-Carrillo I...Lopez-Munoz F	17036352	2006
29	Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). ⁶²	Van Buggenhout G...Fryns JP	16831221	2006
30	Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. ⁶²	Alonso P...Vallejo J	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	Purandare KN...Markar TN	16094260	2005
32	[Syndromic autism: II. Genetic syndromes associated with autism]. ⁶²	Artigas-Pallares J...Guitart-Feliubadalo M	15736079	2005
33	Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. ⁶²	Stathopulu E...Flinter FA	12784307	2003
34	Preserved neurobehavioral abilities in Lujan-Fryns syndrome. ⁶²	Donders J...van Doornik S	11807907	2002
35	[Lujan-Fryns syndrome]. ⁶²	Izumikawa Y	11528648	2001
36	The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR). ⁶²	Van Buggenhout GJ...Fryns J	11334618	2001
37	Aortic root dilation in apparent Lujan-Fryns syndrome. ⁶²	Wittine LM...Williams MS	10508979	1999
38	Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge. ⁶²	Megarbane A...Chammas C	9327261	1997
39	Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. ⁶²	De Hert M...Peuskens J	8723050	1996
40	Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression. ⁶²	Dotti MT...Federico A	8250152	1993
41	Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. ⁶²	Lacombe D...Battin J	8267926	1993
42	Lujan syndrome in a Mexican boy. ⁶²	Rivera H...Garcia-Ochoa C	1605262	1992
43	X-linked mental retardation with marfanoid habitus. ⁶²	Fryns JP	2018064	1991
44	A girl with the Lujan-Fryns syndrome. ⁶²	Gurrieri F...Neri G	2018074	1991
45	X-linked mental retardation with marfanoid habitus: first report of four Italian patients. ⁶²	Lalatta F...Neri G	2018063	1991
46	X-linked mental retardation with Marfanoid habitus: a changing phenotype with age? ⁶²	Fryns JP...Van Den Berghe H	1799424	1991
47	[Chromosome X-linked mental retardation and marfanoid syndrome]. ⁶²	Fryns JP...van den Berghe H	3379374	1988
48	X-linked mental retardation with marfanoid habitus. ⁶²	Fryns JP...Buttiens M	3322000	1987

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Genes for Lujan Syndrome

Genes related to Lujan Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MED12	Mediator Complex Subunit 12	Protein Coding	432.59	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Publications (show sections)	6711603 17369503 18691967

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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

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Expression for Lujan Syndrome

Search GEO for disease gene expression data for Lujan Syndrome.

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Pathways for Lujan Syndrome

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GO Terms for Lujan Syndrome

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Sources for Lujan Syndrome

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⁷⁵ Wikipedia

LFS MCID: LJN002 MIFTS: 22	Lujan Syndrome (LFS) Categories: Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Expand all tables

Lujan Syndrome (LFS)

Aliases & Classifications for Lujan Syndrome

MalaCards integrated aliases for Lujan Syndrome:

Classifications:

Summaries for Lujan Syndrome

Related Diseases for Lujan Syndrome

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

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

Symptoms & Phenotypes for Lujan Syndrome

Drugs & Therapeutics for Lujan Syndrome

Genetic Tests for Lujan Syndrome

Anatomical Context for Lujan Syndrome

Organs/tissues related to Lujan Syndrome:

Publications for Lujan Syndrome

Articles related to Lujan Syndrome:

Genes for Lujan Syndrome

Genes related to Lujan Syndrome (1 elite genes):

Variations for Lujan Syndrome

ClinVar genetic disease variations for Lujan Syndrome:

Expression for Lujan Syndrome

Pathways for Lujan Syndrome

GO Terms for Lujan Syndrome

Sources for Lujan Syndrome