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

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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 ⁴³

Fg Syndrome ⁷¹

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060821

MeSH ⁴³ C537724

SNOMED-CT ⁶⁷ 422437002

UMLS ⁷¹ 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 x-linked intellectual disability with marfanoid habitus, and has symptoms including seizures and constipation. The drug Astragalus has been mentioned in the context of this disorder.

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Related Diseases for Syndromic X-Linked Intellectual Disability 14

Diseases in the Syndromic X-Linked Intellectual Disability family:

Syndromic X-Linked Intellectual Disability 12	Syndromic X-Linked Intellectual Disability 7
Syndromic X-Linked Intellectual Disability Type 10	Syndromic X-Linked Intellectual Disability 14

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

(show all 18)

#	Related Disease	Score
1	intellectual developmental disorder, x-linked, syndromic, lujan-fryns type	12.7
2	x-linked intellectual disability with marfanoid habitus	11.9
3	lujan syndrome	11.5
4	fryns syndrome	10.9
5	marfan syndrome	10.3
6	schizophrenia	10.3
7	autism x-linked 2	10.3
8	intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type	10.3
9	phelan-mcdermid syndrome	10.3
10	alacrima, achalasia, and mental retardation syndrome	10.3
11	ventricular septal defect	10.3
12	heart septal defect	10.3
13	aortic aneurysm	10.3
14	eating disorder	10.3
15	learning disability	10.3
16	med12-related disorders	10.3
17	dysphagia	10.3
18	hypotonia	10.3

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

Drugs for Syndromic X-Linked Intellectual Disability 14 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Astragalus

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Genetic Disease Gene Identification	Unknown status	NCT00916903

Search 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

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Publications for Syndromic X-Linked Intellectual Disability 14

Articles related to Syndromic X-Linked Intellectual Disability 14:

(show all 27)

#	Title	Authors	PMID	Year
1	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
2	MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. ⁶¹	Rubinato E...Marlin S	31536828	2020
3	Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. ⁶¹	Giorgio E...Brusco A	28027854	2017
4	De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? ⁶¹	Caro-Llopis A...Martinez F	27500536	2016
5	Two male sibs with severe micrognathia and a missense variant in MED12. ⁶¹	Prescott TE...Stray-Pedersen A	27286923	2016
6	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
7	Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? ⁶¹	Hackmann K...Di Donato N	26358559	2016
8	Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. ⁶¹	Isidor B...David A	24715367	2014
9	Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. ⁶¹	Dieckmann PM...Barsottini OG	23338167	2013
10	Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. ⁶¹	du Souich C...Boerkoel CF	19842190	2009
11	The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. ⁶¹	Schwartz CE...Stevenson RE	17369503	2007
12	Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. ⁶¹	Lerma-Carrillo I...Lopez-Munoz F	17036352	2006
13	Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. ⁶¹	Williams MS	17103446	2006
14	Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. ⁶¹	Alonso P...Vallejo J	16760741	2006
15	Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). ⁶¹	Van Buggenhout G...Fryns JP	16831221	2006
16	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
17	[Syndromic autism: II. Genetic syndromes associated with autism]. ⁶¹	Artigas-Pallares J...Guitart-Feliubadalo M	15736079	2005
18	Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. ⁶¹	Stathopulu E...Flinter FA	12784307	2003
19	Preserved neurobehavioral abilities in Lujan-Fryns syndrome. ⁶¹	Donders J...van Doornik S	11807907	2002
20	[Lujan-Fryns syndrome]. ⁶¹	Izumikawa Y	11528648	2001
21	The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR). ⁶¹	Van Buggenhout GJ...Fryns J	11334618	2001
22	Aortic root dilation in apparent Lujan-Fryns syndrome. ⁶¹	Wittine LM...Williams MS	10508979	1999
23	Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge. ⁶¹	Megarbane A...Chammas C	9327261	1997
24	Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. ⁶¹	De Hert M...Peuskens J	8723050	1996
25	Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. ⁶¹	Lacombe D...Battin J	8267926	1993
26	X-linked mental retardation with marfanoid habitus: first report of four Italian patients. ⁶¹	Lalatta F...Neri G	2018063	1991
27	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

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Variations for Syndromic X-Linked Intellectual Disability 14

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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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