MCID: SYN082
MIFTS: 22

Syndromic X-Linked Intellectual Disability 14

Categories: Fetal diseases, Genetic diseases, Mental diseases, Metabolic 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 44
Fg Syndrome 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0060821
MeSH 44 C537724
SNOMED-CT 67 422437002
UMLS 70 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 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.

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

Search Clinical Trials , 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

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

40
Heart

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
17369503 2007
2
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. 6
18691967 2008
3
A form of X-linked mental retardation with marfanoid habitus. 6
6711603 1984
4
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. 61
32277047 2020
5
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. 61
31536828 2020
6
Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report. 61
32978958 2020
7
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. 61
28027854 2017
8
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? 61
27500536 2016
9
Two male sibs with severe micrognathia and a missense variant in MED12. 61
27286923 2016
10
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. 61
27980443 2016
11
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? 61
26358559 2016
12
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 61
24715367 2014
13
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. 61
23338167 2013
14
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. 61
19842190 2009
15
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. 61
17036352 2006
16
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. 61
17103446 2006
17
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. 61
16760741 2006
18
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). 61
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
16094260 2005
20
[Syndromic autism: II. Genetic syndromes associated with autism]. 61
15736079 2005
21
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. 61
12784307 2003
22
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. 61
11807907 2002
23
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR). 61
11334618 2001
24
[Lujan-Fryns syndrome]. 61
11528648 2001
25
Aortic root dilation in apparent Lujan-Fryns syndrome. 61
10508979 1999
26
Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge. 61
9327261 1997
27
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. 61
8723050 1996
28
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. 61
8267926 1993
29
X-linked mental retardation with marfanoid habitus: first report of four Italian patients. 61
2018063 1991
30
A girl with the Lujan-Fryns syndrome. 61
2018074 1991

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

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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