MCID: LJN003
MIFTS: 41

Lujan-Fryns Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Mental diseases categories

Aliases & Classifications for Lujan-Fryns Syndrome

About this section

Lujan-Fryns Syndrome, Aliases & Descriptions:

Name: Lujan-Fryns Syndrome 45 10 41 21
X-Linked Mental Retardation with Marfanoid Habitus 41 21 22
Lujan Syndrome 41 20 21
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size and Distinct Craniofacial Anomalies 41
X-Linked Intellectual Disability with Marfanoid Habitus 41
Mental Retardation, X-Linked, with Marfanoid Habitus 41
 
X-Linked Intellectual Deficit with Marfanoid Habitus 21
Xlmr with Marfanoid Features 21
Xlmr with Marfanoid Habitus 41
Lujan Fryns Syndrome 41
Li-Fraumeni Syndrome 60
Lfs 21


Classifications:



External Ids:

OMIM45 309520

Summaries for Lujan-Fryns Syndrome

About this section


Genetics Home Reference:21 Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.

MalaCards based summary: Lujan-Fryns Syndrome, also known as x-linked mental retardation with marfanoid habitus, is related to fryns syndrome and mental retardation, and has symptoms including abnormality of the palate, macrocephaly and micrognathia. An important gene associated with Lujan-Fryns Syndrome is MED12 (mediator complex subunit 12), and among its related pathways is Thyroid hormone signaling pathway. Affiliated tissues include brain and heart, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Wikipedia:63 Lujan?Fryns syndrome (LFS), also referred to as X-linked mental retardation with Marfanoid habitus and... more...

Description from OMIM:45 309520

Related Diseases for Lujan-Fryns Syndrome

About this section

Diseases related to Lujan-Fryns Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1fryns syndrome10.9
2mental retardation10.6
3li-fraumeni syndrome10.6
4schizophrenia10.4
5opitz-kaveggia syndrome10.4
6eating disorder10.4
7brain edema10.3
8lassa fever10.2
9breast cancer10.0
10adrenal cortical carcinoma10.0
11arthritis10.0
12intrahepatic cholestasis10.0
13common cold10.0
14cerebritis10.0
15cholestasis10.0
16filariasis10.0
17ischemia10.0
18blindness10.0

Graphical network of diseases related to Lujan-Fryns Syndrome:



Diseases related to lujan-fryns syndrome

Symptoms for Lujan-Fryns Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

309520

Clinical features from OMIM:

309520

HPO human phenotypes related to Lujan-Fryns Syndrome:

(show all 72)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 macrocephaly hallmark (90%) HP:0000256
3 micrognathia hallmark (90%) HP:0000347
4 high forehead hallmark (90%) HP:0000348
5 muscular hypotonia hallmark (90%) HP:0001252
6 disproportionate tall stature hallmark (90%) HP:0001519
7 abnormality of the voice hallmark (90%) HP:0001608
8 neurological speech impairment hallmark (90%) HP:0002167
9 scoliosis hallmark (90%) HP:0002650
10 cognitive impairment hallmark (90%) HP:0100543
11 macroorchidism typical (50%) HP:0000053
12 narrow face typical (50%) HP:0000275
13 short philtrum typical (50%) HP:0000322
14 prominent nasal bridge typical (50%) HP:0000426
15 pectus excavatum typical (50%) HP:0000767
16 arachnodactyly typical (50%) HP:0001166
17 joint hypermobility typical (50%) HP:0001382
18 defect in the atrial septum typical (50%) HP:0001631
19 attention deficit hyperactivity disorder typical (50%) HP:0007018
20 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
21 cheekbone underdevelopment typical (50%) HP:0010669
22 abnormality of the teeth occasional (7.5%) HP:0000164
23 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
24 abnormality of the pinna occasional (7.5%) HP:0000377
25 hallucinations occasional (7.5%) HP:0000738
26 brachydactyly syndrome occasional (7.5%) HP:0001156
27 seizures occasional (7.5%) HP:0001250
28 abnormality of calvarial morphology occasional (7.5%) HP:0002648
29 camptodactyly of finger occasional (7.5%) HP:0100490
30 abnormality of the genitourinary system HP:0000119
31 open mouth HP:0000194
32 high palate HP:0000218
33 thin upper lip vermilion HP:0000219
34 macrocephaly HP:0000256
35 narrow face HP:0000275
36 long face HP:0000276
37 short philtrum HP:0000322
38 hypoplasia of the maxilla HP:0000327
39 micrognathia HP:0000347
40 low-set ears HP:0000369
41 prominent nasal bridge HP:0000426
42 narrow nasal bridge HP:0000446
43 dental crowding HP:0000678
44 psychosis HP:0000709
45 emotional lability HP:0000712
46 autism HP:0000717
47 aggressive behavior HP:0000718
48 obsessive-compulsive behavior HP:0000722
49 impaired social interactions HP:0000735
50 low frustration tolerance HP:0000744
51 hyperactivity HP:0000752
52 pectus excavatum HP:0000767
53 arachnodactyly HP:0001166
54 intellectual disability HP:0001249
55 seizures HP:0001250
56 agenesis of corpus callosum HP:0001274
57 generalized hypotonia HP:0001290
58 flexion contracture HP:0001371
59 joint laxity HP:0001388
60 x-linked recessive inheritance HP:0001419
61 disproportionate tall stature HP:0001519
62 abnormality of the rib cage HP:0001547
63 nasal speech HP:0001611
64 ventricular septal defect HP:0001629
65 defect in the atrial septum HP:0001631
66 deep philtrum HP:0002002
67 frontal bossing HP:0002007
68 ascending aortic aneurysm HP:0002631
69 long nose HP:0003189
70 abnormally folded helix HP:0008544
71 prominent forehead HP:0011220
72 broad thumb HP:0011304

Drugs & Therapeutics for Lujan-Fryns Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Lujan-Fryns Syndrome

Search NIH Clinical Center for Lujan-Fryns Syndrome

Genetic Tests for Lujan-Fryns Syndrome

About this section

Genetic tests related to Lujan-Fryns Syndrome:

id Genetic test Affiliating Genes
1 Lujan Syndrome20 MED12
2 X-Linked Mental Retardation with Marfanoid Habitus Syndrome22

Anatomical Context for Lujan-Fryns Syndrome

About this section

MalaCards organs/tissues related to Lujan-Fryns Syndrome:

31
Brain, Heart

Animal Models for Lujan-Fryns Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Lujan-Fryns Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2MED12, TP53
2MP:00053829.2MED12, TP53
3MP:00053909.1MED12, TP53
4MP:00053859.1MED12, TP53
5MP:00053809.0TP53, MED12
6MP:00028738.8MED12, TP53

Publications for Lujan-Fryns Syndrome

About this section

Articles related to Lujan-Fryns Syndrome:

(show all 12)
idTitleAuthorsYear
1
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. (23338167)
2013
2
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. (16760741)
2006
3
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). (16831221)
2006
4
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. (17103446)
2006
5
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. (17036352)
2006
6
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. (16094260)
2005
7
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. (12784307)
2003
8
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. (11807907)
2002
9
Aortic root dilation in apparent Lujan-Fryns syndrome. (10508979)
1999
10
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. (8723050)
1996
11
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. (8267926)
1993
12
A girl with the Lujan-Fryns syndrome. (2018074)
1991

Variations for Lujan-Fryns Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Lujan-Fryns Syndrome:

62
id Symbol AA change Variation ID SNP ID
1MED12p.Asn1007SerVAR_037534

Clinvar genetic disease variations for Lujan-Fryns Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MED12NM_005120.2(MED12): c.3020A> G (p.Asn1007Ser)single nucleotide variantPathogenicrs80338759GRCh37Chr X, 70347781: 70347781
2TP53NM_000546.5(TP53): c.586C> T (p.Arg196Ter)single nucleotide variantPathogenicrs397516435GRCh37Chr 17, 7578263: 7578263
3TP53NM_000546.5(TP53): c.637C> T (p.Arg213Ter)single nucleotide variantPathogenicrs397516436GRCh37Chr 17, 7578212: 7578212
4TP53NM_000546.5(TP53): c.817C> T (p.Arg273Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121913343GRCh37Chr 17, 7577121: 7577121

Expression for genes affiliated with Lujan-Fryns Syndrome

About this section
Search GEO for disease gene expression data for Lujan-Fryns Syndrome.

Pathways for genes affiliated with Lujan-Fryns Syndrome

About this section

Pathways related to Lujan-Fryns Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1MED12, TP53

Compounds for genes affiliated with Lujan-Fryns Syndrome

About this section

GO Terms for genes affiliated with Lujan-Fryns Syndrome

About this section

Cellular components related to Lujan-Fryns Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056549.1MED12, TP53

Biological processes related to Lujan-Fryns Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:00459449.1MED12, TP53
2positive regulation of transcription, DNA-templatedGO:00458938.8MED12, TP53

Molecular functions related to Lujan-Fryns Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00036829.1MED12, TP53

Products for genes affiliated with Lujan-Fryns Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lujan-Fryns Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet