Syndromic X-Linked Intellectual Disability 14 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SYN082 MIFTS: 22	Syndromic X-Linked Intellectual Disability 14 Categories: Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Syndromic X-Linked Intellectual Disability 14

MalaCards integrated aliases for Syndromic X-Linked Intellectual Disability 14:

Name: Syndromic X-Linked Intellectual Disability 14 ¹²

Lujan Fryns Syndrome ⁴⁴

Fg Syndrome ⁷⁰

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Mental diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060821

MeSH ⁴⁴ C537724

SNOMED-CT ⁶⁷ 422437002

UMLS ⁷⁰ C0220769 C0796022

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Summaries for Syndromic X-Linked Intellectual Disability 14

Disease Ontology : ¹² A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has material basis in mutation in the UPF3B gene on chromosome Xq24.

MalaCards based summary : Syndromic X-Linked Intellectual Disability 14, also known as lujan fryns syndrome, is related to intellectual developmental disorder, x-linked, syndromic, lujan-fryns type and non-syndromic x-linked intellectual disability 14, and has symptoms including seizures and constipation. An important gene associated with Syndromic X-Linked Intellectual Disability 14 is MED12 (Mediator Complex Subunit 12). Affiliated tissues include heart.

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Related Diseases for Syndromic X-Linked Intellectual Disability 14

Diseases in the Syndromic X-Linked Intellectual Disability Type 10 family:

Syndromic X-Linked Intellectual Disability	Syndromic X-Linked Intellectual Disability 12
Syndromic X-Linked Intellectual Disability 7	Syndromic X-Linked Intellectual Disability 14
Syndromic X-Linked Intellectual Disability 94

Diseases related to Syndromic X-Linked Intellectual Disability 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)

#	Related Disease	Score
1	intellectual developmental disorder, x-linked, syndromic, lujan-fryns type	11.9
2	non-syndromic x-linked intellectual disability 14	11.4
3	x-linked intellectual disability with marfanoid habitus	11.4
4	lujan syndrome	11.3
5	fryns syndrome	10.8
6	hypotonia	10.3
7	marfan syndrome	10.2
8	autism	10.2
9	autism x-linked 2	10.2
10	intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type	10.2
11	phelan-mcdermid syndrome	10.2
12	alacrima, achalasia, and mental retardation syndrome	10.2
13	ventricular septal defect	10.2
14	heart septal defect	10.2
15	aortic aneurysm	10.2
16	eating disorder	10.2
17	learning disability	10.2
18	homocystinuria	10.2
19	med12-related disorders	10.2
20	dysphagia	10.2

Graphical network of the top 20 diseases related to Syndromic X-Linked Intellectual Disability 14:

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Symptoms & Phenotypes for Syndromic X-Linked Intellectual Disability 14

UMLS symptoms related to Syndromic X-Linked Intellectual Disability 14:

seizures; constipation

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Drugs & Therapeutics for Syndromic X-Linked Intellectual Disability 14

Search Clinical Trials , NIH Clinical Center for Syndromic X-Linked Intellectual Disability 14

Cochrane evidence based reviews: lujan fryns syndrome

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Genetic Tests for Syndromic X-Linked Intellectual Disability 14

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Anatomical Context for Syndromic X-Linked Intellectual Disability 14

MalaCards organs/tissues related to Syndromic X-Linked Intellectual Disability 14:

⁴⁰

Heart

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Publications for Syndromic X-Linked Intellectual Disability 14

Articles related to Syndromic X-Linked Intellectual Disability 14:

(show all 30)

#	Title	Authors	PMID	Year
1	The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. ⁶¹ ⁶	Schwartz CE...Stevenson RE	17369503	2007
2	Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. ⁶	Ding N...Boyer TG	18691967	2008
3	A form of X-linked mental retardation with marfanoid habitus. ⁶	Lujan JE...Lubs HA	6711603	1984
4	Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. ⁶¹	Chevarin M...Faivre L	32277047	2020
5	MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. ⁶¹	Rubinato E...Marlin S	31536828	2020
6	Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report. ⁶¹	Genis B...Cosar B	32978958	2020
7	Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. ⁶¹	Giorgio E...Brusco A	28027854	2017
8	De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? ⁶¹	Caro-Llopis A...Martinez F	27500536	2016
9	Two male sibs with severe micrognathia and a missense variant in MED12. ⁶¹	Prescott TE...Stray-Pedersen A	27286923	2016
10	Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. ⁶¹	Khan A...Ayub M	27980443	2016
11	Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? ⁶¹	Hackmann K...Di Donato N	26358559	2016
12	Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. ⁶¹	Isidor B...David A	24715367	2014
13	Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. ⁶¹	Dieckmann PM...Barsottini OG	23338167	2013
14	Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. ⁶¹	du Souich C...Boerkoel CF	19842190	2009
15	Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. ⁶¹	Lerma-Carrillo I...Lopez-Munoz F	17036352	2006
16	Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. ⁶¹	Williams MS	17103446	2006
17	Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. ⁶¹	Alonso P...Vallejo J	16760741	2006
18	Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). ⁶¹	Van Buggenhout G...Fryns JP	16831221	2006
19	Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. ⁶¹	Purandare KN...Markar TN	16094260	2005
20	[Syndromic autism: II. Genetic syndromes associated with autism]. ⁶¹	Artigas-Pallares J...Guitart-Feliubadalo M	15736079	2005
21	Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. ⁶¹	Stathopulu E...Flinter FA	12784307	2003
22	Preserved neurobehavioral abilities in Lujan-Fryns syndrome. ⁶¹	Donders J...van Doornik S	11807907	2002
23	The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR). ⁶¹	Van Buggenhout GJ...Fryns J	11334618	2001
24	[Lujan-Fryns syndrome]. ⁶¹	Izumikawa Y	11528648	2001
25	Aortic root dilation in apparent Lujan-Fryns syndrome. ⁶¹	Wittine LM...Williams MS	10508979	1999
26	Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge. ⁶¹	Megarbane A...Chammas C	9327261	1997
27	Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. ⁶¹	De Hert M...Peuskens J	8723050	1996
28	Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. ⁶¹	Lacombe D...Battin J	8267926	1993
29	X-linked mental retardation with marfanoid habitus: first report of four Italian patients. ⁶¹	Lalatta F...Neri G	2018063	1991
30	A girl with the Lujan-Fryns syndrome. ⁶¹	Gurrieri F...Neri G	2018074	1991

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Genes for Syndromic X-Linked Intellectual Disability 14

Genes related to Syndromic X-Linked Intellectual Disability 14 (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	425	Pathogenic ⁶ Likely pathogenic ⁶	6711603 17369503 18691967

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Variations for Syndromic X-Linked Intellectual Disability 14

ClinVar genetic disease variations for Syndromic X-Linked Intellectual Disability 14:

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

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Expression for Syndromic X-Linked Intellectual Disability 14

Search GEO for disease gene expression data for Syndromic X-Linked Intellectual Disability 14.

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Pathways for Syndromic X-Linked Intellectual Disability 14

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GO Terms for Syndromic X-Linked Intellectual Disability 14

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