MRXSLF
MCID: INT372
MIFTS: 33

Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type (MRXSLF)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, X-Linked, Syndromic,...

MalaCards integrated aliases for Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type:

Name: Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type 56
Lujan-Fryns Syndrome 56 74 73 36 13 39
X-Linked Mental Retardation with Marfanoid Habitus Syndrome 29 6
Mental Retardation, X-Linked, with Marfanoid Habitus, 1 56
X-Linked Mental Retardation with Marfanoid Habitus 73
Lujfrys 73
Mrxslf 56

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
allelic disorder to opitz-kaveggia syndrome


HPO:

31
intellectual developmental disorder, x-linked, syndromic, lujan-fryns type:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Intellectual Developmental Disorder, X-Linked, Syndromic,...

KEGG : 36 Lujan-Fryns syndrome (LFS) is a X-linked mental retardation (XLMR) syndrome, caused by mutations in the MED12 gene. LFS is characterised by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate mental retardation, behavioural aberrations and dysgenesis of the corpus callosum.

MalaCards based summary : Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type, also known as lujan-fryns syndrome, is related to syndromic x-linked intellectual disability 14 and x-linked intellectual disability with marfanoid habitus. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type is MED12 (Mediator Complex Subunit 12), and among its related pathways/superpathways is Thyroid hormone signaling pathway. Affiliated tissues include brain, heart and thyroid, and related phenotypes are intellectual disability and macrocephaly

UniProtKB/Swiss-Prot : 73 Lujan-Fryns syndrome: Clinically, Lujan-Fryns syndrome can be distinguished from Opitz- Kaveggia syndrome by tall stature, hypernasal voice, hyperextensible digits and high nasal root.

Wikipedia : 74 Lujan-Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual... more...

More information from OMIM: 309520 PS309510

Related Diseases for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Diseases related to Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability 14 12.0
2 x-linked intellectual disability with marfanoid habitus 12.0
3 lujan syndrome 11.6
4 fryns syndrome 11.0
5 marfan syndrome 10.4
6 schizophrenia 10.4
7 autism x-linked 2 10.4
8 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type 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 atrial septal defect 1 10.3
20 pectus excavatum 10.3
21 atrial heart septal defect 10.3

Graphical network of the top 20 diseases related to Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type:



Diseases related to Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type

Symptoms & Phenotypes for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Human phenotypes related to Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type:

31 (show all 42)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 macrocephaly 31 HP:0000256
3 broad thumb 31 HP:0011304
4 flexion contracture 31 HP:0001371
5 prominent forehead 31 HP:0011220
6 frontal bossing 31 HP:0002007
7 autism 31 HP:0000717
8 high palate 31 HP:0000218
9 micrognathia 31 HP:0000347
10 low-set ears 31 HP:0000369
11 pectus excavatum 31 HP:0000767
12 atrial septal defect 31 HP:0001631
13 joint laxity 31 HP:0001388
14 hypoplasia of the maxilla 31 HP:0000327
15 arachnodactyly 31 HP:0001166
16 disproportionate tall stature 31 HP:0001519
17 narrow face 31 HP:0000275
18 dental crowding 31 HP:0000678
19 open mouth 31 HP:0000194
20 obsessive-compulsive behavior 31 HP:0000722
21 thin upper lip vermilion 31 HP:0000219
22 long face 31 HP:0000276
23 deep philtrum 31 HP:0002002
24 prominent nasal bridge 31 HP:0000426
25 short philtrum 31 HP:0000322
26 nasal speech 31 HP:0001611
27 ventricular septal defect 31 HP:0001629
28 agenesis of corpus callosum 31 HP:0001274
29 psychosis 31 HP:0000709
30 narrow nasal bridge 31 HP:0000446
31 long nose 31 HP:0003189
32 emotional lability 31 HP:0000712
33 abnormality of the genitourinary system 31 HP:0000119
34 aggressive behavior 31 HP:0000718
35 hyperactivity 31 HP:0000752
36 generalized hypotonia 31 HP:0001290
37 low frustration tolerance 31 HP:0000744
38 abnormally folded helix 31 HP:0008544
39 ascending tubular aorta aneurysm 31 HP:0004970
40 impaired social interactions 31 HP:0000735
41 seizure 31 HP:0001250
42 abnormality of the rib cage 31 HP:0001547

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly

Head And Neck Face:
prominent forehead
micrognathia
narrow face
long face
deep philtrum
more
Chest External Features:
pectus excavatum

Skeletal:
joint laxity
joint contractures

Growth Height:
tall stature

Head And Neck Nose:
narrow nasal bridge
long nose
high nasal bridge

Skeletal Skull:
small mandible

Head And Neck Teeth:
crowded teeth
double row of teeth

Genitourinary Internal Genitalia Male:
borderline to large testes

Neurologic Central Nervous System:
seizures
agenesis of the corpus callosum
mental retardation, mild to moderate
hypotonia, generalized

Head And Neck Ears:
low-set ears
abnormally folded helix

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Head And Neck Mouth:
open mouth
thin upper lip
high-arched palate

Neurologic Behavioral Psychiatric Manifestations:
psychosis
aggressive behavior
hyperactivity
low frustration tolerance
emotional instability
more
Skeletal Hands:
long fingers
broad thumbs
thin fingers

Growth Other:
marfanoid habitus

Cardiovascular Vascular:
ascending aortic aneurysm

Voice:
hypernasal voice

Clinical features from OMIM:

309520

Drugs & Therapeutics for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type

Genetic Tests for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Genetic tests related to Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type:

# Genetic test Affiliating Genes
1 X-Linked Mental Retardation with Marfanoid Habitus Syndrome 29 MED12

Anatomical Context for Intellectual Developmental Disorder, X-Linked, Syndromic,...

MalaCards organs/tissues related to Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type:

40
Brain, Heart, Thyroid, Testes

Publications for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Articles related to Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type:

(show all 34)
# Title Authors PMID Year
1
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. 61 6 56
17369503 2007
2
A form of X-linked mental retardation with marfanoid habitus. 6 56
6711603 1984
3
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. 61 56
17036352 2006
4
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. 56 61
17103446 2006
5
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. 61 56
12784307 2003
6
Aortic root dilation in apparent Lujan-Fryns syndrome. 56 61
10508979 1999
7
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. 56 61
8267926 1993
8
X-linked mental retardation with marfanoid habitus: first report of four Italian patients. 61 56
2018063 1991
9
A girl with the Lujan-Fryns syndrome. 61 56
2018074 1991
10
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
11
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. 6
18691967 2008
12
MED12-Related Disorders 6
20301719 2008
13
Lujan syndrome in a Mexican boy. 56
1605262 1992
14
X-linked mental retardation with marfanoid habitus. 56
2018064 1991
15
X-linked mental retardation with marfanoid habitus. 56
3322000 1987
16
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. 61
32277047 2020
17
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. 61
31536828 2020
18
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. 61
28027854 2017
19
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? 61
27500536 2016
20
Two male sibs with severe micrognathia and a missense variant in MED12. 61
27286923 2016
21
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. 61
27980443 2016
22
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? 61
26358559 2016
23
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 61
24715367 2014
24
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. 61
23338167 2013
25
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. 61
19842190 2009
26
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. 61
16760741 2006
27
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). 61
16831221 2006
28
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. 61
16094260 2005
29
[Syndromic autism: II. Genetic syndromes associated with autism]. 61
15736079 2005
30
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. 61
11807907 2002
31
[Lujan-Fryns syndrome]. 61
11528648 2001
32
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR). 61
11334618 2001
33
Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge. 61
9327261 1997
34
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. 61
8723050 1996

Variations for Intellectual Developmental Disorder, X-Linked, Syndromic,...

ClinVar genetic disease variations for Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type:

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

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type:

73
# Symbol AA change Variation ID SNP ID
1 MED12 p.Asn1007Ser VAR_037534 rs80338759

Expression for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Search GEO for disease gene expression data for Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type.

Pathways for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Pathways related to Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type according to KEGG:

36
# Name Kegg Source Accession
1 Thyroid hormone signaling pathway hsa04919

GO Terms for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Sources for Intellectual Developmental Disorder, X-Linked, Syndromic,...

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
Content
Loading form....