MCID: XLN235
MIFTS: 25

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 59
Lujan-Fryns Syndrome 59
Lujan Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability with marfanoid habitus
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C0796022
Orphanet 59 ORPHA776

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). Related phenotypes are macrocephaly and high palate

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 32.9 ZDHHC9 UPF3B MED12
2 fryns syndrome 29.4 ZDHHC9 UPF3B MED12
3 syndromic x-linked intellectual disability 14 11.9
4 lujan syndrome 11.5
5 marfan syndrome 10.4
6 schizophrenia 10.4
7 autism x-linked 2 10.4
8 phelan-mcdermid syndrome 10.4
9 alacrima, achalasia, and mental retardation syndrome 10.4
10 ventricular septal defect 10.4
11 heart septal defect 10.4
12 aortic aneurysm 10.4
13 eating disorder 10.4
14 learning disability 10.4
15 med12-related disorders 10.4
16 dysphagia 10.4
17 hypotonia 10.4
18 opitz-kaveggia syndrome 10.1
19 x-linked non-specific intellectual disability 9.4 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:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
6 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
7 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
8 disproportionate tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0001519
9 nasal speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001611
10 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
11 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
12 macroorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000053
13 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
14 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
15 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
16 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
17 prominent nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000426
18 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
19 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
20 arachnodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001166
21 aplasia/hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0007370
22 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
23 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
24 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
25 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
26 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
27 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
28 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
29 dental crowding 59 32 occasional (7.5%) Occasional (29-5%) HP:0000678
30 schizophrenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100753
31 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
32 behavioral abnormality 59 Very frequent (99-80%)
33 abnormality of the dentition 59 Occasional (29-5%)
34 abnormality of the voice 59 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

Publications for X-Linked Intellectual Disability with Marfanoid Habitus

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

(show all 32)
# Title Authors PMID Year
1
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. 38 71
17369503 2007
2
Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree. 71
22957832 2013
3
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 71
23519317 2013
4
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. 71
18691967 2008
5
MED12-Related Disorders 71
20301719 2008
6
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 71
17704778 2007
7
FG syndrome: report of three new families with linkage to Xq12-q22.1. 71
9805132 1998
8
A form of X-linked mental retardation with marfanoid habitus. 71
6711603 1984
9
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. 38
28027854 2017
10
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? 38
27500536 2016
11
Two male sibs with severe micrognathia and a missense variant in MED12. 38
27286923 2016
12
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. 38
27980443 2016
13
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? 38
26358559 2016
14
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 38
24715367 2014
15
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. 38
23338167 2013
16
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. 38
19842190 2009
17
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. 38
17103446 2006
18
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. 38
17036352 2006
19
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. 38
16760741 2006
20
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). 38
16831221 2006
21
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. 38
16094260 2005
22
[Syndromic autism: II. Genetic syndromes associated with autism]. 38
15736079 2005
23
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. 38
12784307 2003
24
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. 38
11807907 2002
25
[Lujan-Fryns syndrome]. 38
11528648 2001
26
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR). 38
11334618 2001
27
Aortic root dilation in apparent Lujan-Fryns syndrome. 38
10508979 1999
28
Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge. 38
9327261 1997
29
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. 38
8723050 1996
30
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. 38
8267926 1993
31
X-linked mental retardation with marfanoid habitus: first report of four Italian patients. 38
2018063 1991
32
A girl with the Lujan-Fryns syndrome. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MED12 NM_005120.3(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 X:70347217-70347217 X:71127367-71127367
2 MED12 NM_005120.3(MED12): c.3020A> G (p.Asn1007Ser) single nucleotide variant Pathogenic rs80338759 X:70347781-70347781 X:71127931-71127931
3 MED12 NM_005120.3(MED12): c.1849A> G (p.Thr617Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs765417606 X:70344113-70344113 X:71124263-71124263
4 MED12 NM_005120.3(MED12): c.4021C> T (p.Arg1341Trp) single nucleotide variant Uncertain significance rs777250096 X:70350038-70350038 X:71130188-71130188
5 MED12 NM_005120.3(MED12): c.6097A> G (p.Met2033Val) single nucleotide variant Uncertain significance rs372606012 X:70360537-70360537 X:71140687-71140687
6 MED12 NM_005120.3(MED12): c.2023C> T (p.Leu675Phe) single nucleotide variant Uncertain significance X:70344662-70344662 X:71124812-71124812
7 MED12 NM_005120.3(MED12): c.5017_5019AAG[1] (p.Lys1674del) short repeat Uncertain significance X:70355095-70355097 X:71135245-71135247
8 MED12 NM_005120.3(MED12): c.1039A> G (p.Ser347Gly) single nucleotide variant Uncertain significance rs752300879 X:70341604-70341604 X:71121754-71121754
9 MED12 NM_005120.3(MED12): c.1264C> T (p.Arg422Trp) single nucleotide variant Uncertain significance rs368913305 X:70342373-70342373 X:71122523-71122523
10 MED12 NM_005120.3(MED12): c.2545T> C (p.Ser849Pro) single nucleotide variant Uncertain significance rs1135401775 X:70346194-70346194 X:71126344-71126344
11 MED12 NM_005120.3(MED12): c.628G> C (p.Ala210Pro) single nucleotide variant Uncertain significance X:70340895-70340895 X:71121045-71121045

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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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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