MCID: XLN235
MIFTS: 27

X-Linked Intellectual Disability with Marfanoid Habitus

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability with Marfanoid Habitus

MalaCards integrated aliases for X-Linked Intellectual Disability with Marfanoid Habitus:

Name: X-Linked Intellectual Disability with Marfanoid Habitus 58
Lujan-Fryns Syndrome 58
Lujan Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability with marfanoid habitus
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for X-Linked Intellectual Disability with Marfanoid Habitus

MalaCards based summary : X-Linked Intellectual Disability with Marfanoid Habitus, also known as lujan-fryns syndrome, is related to lujan-fryns syndrome and fryns syndrome. An important gene associated with X-Linked Intellectual Disability with Marfanoid Habitus is MED12 (Mediator Complex Subunit 12). Affiliated tissues include heart, and related phenotypes are macrocephaly and intellectual disability

Related Diseases for X-Linked Intellectual Disability with Marfanoid Habitus

Diseases related to X-Linked Intellectual Disability with Marfanoid Habitus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 lujan-fryns syndrome 33.2 ZDHHC9 UPF3B MED12
2 fryns syndrome 30.0 ZDHHC9 UPF3B MED12
3 opitz-kaveggia syndrome 29.1 UPF3B MED12
4 syndromic x-linked intellectual disability 14 12.0
5 lujan syndrome 11.5
6 marfan syndrome 10.4
7 schizophrenia 10.4
8 autism x-linked 2 10.4
9 phelan-mcdermid syndrome 10.4
10 alacrima, achalasia, and mental retardation syndrome 10.4
11 ventricular septal defect 10.4
12 heart septal defect 10.4
13 aortic aneurysm 10.4
14 eating disorder 10.4
15 learning disability 10.4
16 med12-related disorders 10.4
17 dysphagia 10.4
18 hypotonia 10.4
19 non-syndromic x-linked intellectual disability 9.2 UPF3B MED12

Graphical network of the top 20 diseases related to X-Linked Intellectual Disability with Marfanoid Habitus:



Diseases related to X-Linked Intellectual Disability with Marfanoid Habitus

Symptoms & Phenotypes for X-Linked Intellectual Disability with Marfanoid Habitus

Human phenotypes related to X-Linked Intellectual Disability with Marfanoid Habitus:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
4 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
5 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
6 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
7 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
9 disproportionate tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0001519
10 nasal speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001611
11 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
12 macroorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000053
13 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
14 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
15 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
16 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
17 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
18 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
19 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
20 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
21 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
22 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
23 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
24 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
25 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
26 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
27 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
28 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
29 dental crowding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000678
30 schizophrenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100753
31 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
32 behavioral abnormality 58 Very frequent (99-80%)
33 abnormality of the dentition 58 Occasional (29-5%)
34 abnormality of the voice 58 Very frequent (99-80%)

Drugs & Therapeutics for X-Linked Intellectual Disability with Marfanoid Habitus

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability with Marfanoid Habitus

Genetic Tests for X-Linked Intellectual Disability with Marfanoid Habitus

Anatomical Context for X-Linked Intellectual Disability with Marfanoid Habitus

MalaCards organs/tissues related to X-Linked Intellectual Disability with Marfanoid Habitus:

40
Heart

Publications for X-Linked Intellectual Disability with Marfanoid Habitus

Articles related to X-Linked Intellectual Disability with Marfanoid Habitus:

(show all 33)
# 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
Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree. 6
22957832 2013
3
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
4
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. 6
18691967 2008
5
MED12-Related Disorders 6
20301719 2008
6
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 6
17704778 2007
7
FG syndrome: report of three new families with linkage to Xq12-q22.1. 6
9805132 1998
8
A form of X-linked mental retardation with marfanoid habitus. 6
6711603 1984
9
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. 61
31536828 2019
10
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. 61
28027854 2017
11
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? 61
27500536 2016
12
Two male sibs with severe micrognathia and a missense variant in MED12. 61
27286923 2016
13
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. 61
27980443 2016
14
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? 61
26358559 2016
15
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 61
24715367 2014
16
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. 61
23338167 2013
17
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. 61
19842190 2009
18
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. 61
17036352 2006
19
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. 61
17103446 2006
20
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. 61
16760741 2006
21
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). 61
16831221 2006
22
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. 61
16094260 2005
23
[Syndromic autism: II. Genetic syndromes associated with autism]. 61
15736079 2005
24
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. 61
12784307 2003
25
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. 61
11807907 2002
26
[Lujan-Fryns syndrome]. 61
11528648 2001
27
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR). 61
11334618 2001
28
Aortic root dilation in apparent Lujan-Fryns syndrome. 61
10508979 1999
29
Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge. 61
9327261 1997
30
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. 61
8723050 1996
31
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. 61
8267926 1993
32
X-linked mental retardation with marfanoid habitus: first report of four Italian patients. 61
2018063 1991
33
A girl with the Lujan-Fryns syndrome. 61
2018074 1991

Variations for X-Linked Intellectual Disability with Marfanoid Habitus

ClinVar genetic disease variations for X-Linked Intellectual Disability with Marfanoid Habitus:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MED12 NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)SNV Pathogenic 11520 rs80338758 X:70347217-70347217 X:71127367-71127367
2 MED12 NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)SNV Pathogenic 11521 rs80338759 X:70347781-70347781 X:71127931-71127931
3 MED12 NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)SNV Conflicting interpretations of pathogenicity 213633 rs765417606 X:70344113-70344113 X:71124263-71124263
4 MED12 NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp)SNV Uncertain significance 213641 rs777250096 X:70350038-70350038 X:71130188-71130188
5 MED12 NM_005120.3(MED12):c.6097A>G (p.Met2033Val)SNV Uncertain significance 213627 rs372606012 X:70360537-70360537 X:71140687-71140687
6 MED12 NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)SNV Uncertain significance 213631 rs752300879 X:70341604-70341604 X:71121754-71121754
7 MED12 NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)SNV Uncertain significance 213632 rs368913305 X:70342373-70342373 X:71122523-71122523
8 MED12 NM_005120.3(MED12):c.2545T>C (p.Ser849Pro)SNV Uncertain significance 431098 rs1135401775 X:70346194-70346194 X:71126344-71126344
9 MED12 NM_005120.3(MED12):c.628G>C (p.Ala210Pro)SNV Uncertain significance 560275 rs1379201163 X:70340895-70340895 X:71121045-71121045
10 MED12 NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)SNV Uncertain significance 619996 rs1307587368 X:70344662-70344662 X:71124812-71124812
11 MED12 NM_005120.3(MED12):c.5017_5019AAG[1] (p.Lys1674del)short repeat Uncertain significance 620067 X:70355095-70355097 X:71135245-71135247

Expression for X-Linked Intellectual Disability with Marfanoid Habitus

Search GEO for disease gene expression data for X-Linked Intellectual Disability with Marfanoid Habitus.

Pathways for X-Linked Intellectual Disability with Marfanoid Habitus

GO Terms for X-Linked Intellectual Disability with Marfanoid Habitus

Sources for X-Linked Intellectual Disability with Marfanoid Habitus

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