MCID: SYN082
MIFTS: 17

Syndromic X-Linked Intellectual Disability 14

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

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:



External Ids:

Disease Ontology 12 DOID:0060821
MeSH 43 C537724
SNOMED-CT 67 422437002
UMLS 71 C0220769 C0796022

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.

Related Diseases for Syndromic X-Linked Intellectual Disability 14

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



Diseases related to Syndromic X-Linked Intellectual Disability 14

Symptoms & Phenotypes for Syndromic X-Linked Intellectual Disability 14

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


seizures, constipation

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

Genetic Tests for Syndromic X-Linked Intellectual Disability 14

Anatomical Context for Syndromic X-Linked Intellectual Disability 14

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
32277047 2020
2
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. 61
31536828 2020
3
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. 61
28027854 2017
4
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? 61
27500536 2016
5
Two male sibs with severe micrognathia and a missense variant in MED12. 61
27286923 2016
6
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. 61
27980443 2016
7
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? 61
26358559 2016
8
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 61
24715367 2014
9
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. 61
23338167 2013
10
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. 61
19842190 2009
11
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. 61
17369503 2007
12
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. 61
17036352 2006
13
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. 61
17103446 2006
14
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. 61
16760741 2006
15
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). 61
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
16094260 2005
17
[Syndromic autism: II. Genetic syndromes associated with autism]. 61
15736079 2005
18
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. 61
12784307 2003
19
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. 61
11807907 2002
20
[Lujan-Fryns syndrome]. 61
11528648 2001
21
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR). 61
11334618 2001
22
Aortic root dilation in apparent Lujan-Fryns syndrome. 61
10508979 1999
23
Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge. 61
9327261 1997
24
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. 61
8723050 1996
25
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. 61
8267926 1993
26
X-linked mental retardation with marfanoid habitus: first report of four Italian patients. 61
2018063 1991
27
A girl with the Lujan-Fryns syndrome. 61
2018074 1991

Variations for Syndromic X-Linked Intellectual Disability 14

Expression for Syndromic X-Linked Intellectual Disability 14

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

Pathways for Syndromic X-Linked Intellectual Disability 14

GO Terms for Syndromic X-Linked Intellectual Disability 14

Sources for Syndromic X-Linked Intellectual Disability 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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