LUJFRYS
MCID: LJN003
MIFTS: 32

Lujan-Fryns Syndrome (LUJFRYS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Lujan-Fryns Syndrome

MalaCards integrated aliases for Lujan-Fryns Syndrome:

Name: Lujan-Fryns Syndrome 58 77 76 38 13 41
X-Linked Mental Retardation with Marfanoid Habitus Syndrome 30 6
Mental Retardation, X-Linked, with Marfanoid Habitus 58
X-Linked Mental Retardation with Marfanoid Habitus 76
Mental Retardation, X Linked, Marfanoid Habitus 77
Lujfrys 76

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
allelic disorder to opitz-kaveggia syndrome


HPO:

33
lujan-fryns syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Lujan-Fryns Syndrome

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Lujan-Fryns Syndrome, also known as x-linked mental retardation with marfanoid habitus syndrome, is related to fryns syndrome and syndromic x-linked intellectual disability 14. An important gene associated with Lujan-Fryns Syndrome is MED12 (Mediator Complex Subunit 12), and among its related pathways/superpathways is Thyroid hormone signaling pathway. Affiliated tissues include brain, heart and testes, and related phenotypes are macrocephaly and low-set ears

Wikipedia : 77 Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual... more...

Description from OMIM: 309520

Related Diseases for Lujan-Fryns Syndrome

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

# Related Disease Score Top Affiliating Genes
1 fryns syndrome 30.3 MED12 UPF3B ZDHHC9
2 syndromic x-linked intellectual disability 14 11.8
3 lujan syndrome 11.4
4 schizophrenia 10.4
5 autism x-linked 2 10.4
6 eating disorder 10.4
7 dysphagia 10.4
8 x-linked non-specific intellectual disability 9.4 MED12 UPF3B

Graphical network of the top 20 diseases related to Lujan-Fryns Syndrome:



Diseases related to Lujan-Fryns Syndrome

Symptoms & Phenotypes for Lujan-Fryns Syndrome

Human phenotypes related to Lujan-Fryns Syndrome:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Chest External Features:
pectus excavatum

Head And Neck Face:
prominent forehead
micrognathia
short philtrum
narrow face
long face
more
Skeletal:
joint laxity
joint contractures

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

Growth Height:
tall stature

Skeletal Skull:
small mandible

Head And Neck Teeth:
crowded teeth
double row of teeth

Genitourinary Internal Genitalia Male:
borderline to large testes

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

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

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Neurologic Behavioral Psychiatric Manifestations:
psychosis
aggressive behavior
hyperactivity
low frustration tolerance
emotional instability
more
Head And Neck Nose:
narrow nasal bridge
long nose
high nasal bridge

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 Lujan-Fryns Syndrome

Search Clinical Trials , NIH Clinical Center for Lujan-Fryns Syndrome

Genetic Tests for Lujan-Fryns Syndrome

Genetic tests related to Lujan-Fryns Syndrome:

# Genetic test Affiliating Genes
1 X-Linked Mental Retardation with Marfanoid Habitus Syndrome 30 MED12

Anatomical Context for Lujan-Fryns Syndrome

MalaCards organs/tissues related to Lujan-Fryns Syndrome:

42
Brain, Heart, Testes, Thyroid

Publications for Lujan-Fryns Syndrome

Articles related to Lujan-Fryns Syndrome:

(show all 14)
# Title Authors Year
1
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. ( 27980443 )
2016
2
Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? ( 26358559 )
2015
3
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. ( 23338167 )
2013
4
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. ( 16760741 )
2006
5
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. ( 17036352 )
2006
6
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). ( 16831221 )
2006
7
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. ( 17103446 )
2006
8
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. ( 16094260 )
2005
9
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. ( 12784307 )
2003
10
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. ( 11807907 )
2002
11
Aortic root dilation in apparent Lujan-Fryns syndrome. ( 10508979 )
1999
12
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. ( 8723050 )
1996
13
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. ( 8267926 )
1993
14
A girl with the Lujan-Fryns syndrome. ( 2018074 )
1991

Variations for Lujan-Fryns Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 MED12 p.Asn1007Ser VAR_037534 rs80338759

ClinVar genetic disease variations for Lujan-Fryns Syndrome:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 MED12 NM_005120.2(MED12): c.4669T> C (p.Trp1557Arg) single nucleotide variant Likely pathogenic rs794727576 GRCh37 Chromosome X, 70354258: 70354258
2 MED12 NM_005120.2(MED12): c.4669T> C (p.Trp1557Arg) single nucleotide variant Likely pathogenic rs794727576 GRCh38 Chromosome X, 71134408: 71134408
3 MED12 NM_005120.2(MED12): c.1849A> G (p.Thr617Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs765417606 GRCh37 Chromosome X, 70344113: 70344113
4 MED12 NM_005120.2(MED12): c.1849A> G (p.Thr617Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs765417606 GRCh38 Chromosome X, 71124263: 71124263
5 MED12 NM_005120.2(MED12): c.3020A> G (p.Asn1007Ser) single nucleotide variant Pathogenic rs80338759 GRCh37 Chromosome X, 70347781: 70347781
6 MED12 NM_005120.2(MED12): c.3020A> G (p.Asn1007Ser) single nucleotide variant Pathogenic rs80338759 GRCh38 Chromosome X, 71127931: 71127931
7 MED12 NM_005120.2(MED12): c.2545T> C (p.Ser849Pro) single nucleotide variant Uncertain significance rs1135401775 GRCh37 Chromosome X, 70346194: 70346194
8 MED12 NM_005120.2(MED12): c.2545T> C (p.Ser849Pro) single nucleotide variant Uncertain significance rs1135401775 GRCh38 Chromosome X, 71126344: 71126344
9 MED12 NM_005120.2(MED12): c.628G> C (p.Ala210Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 70340895: 70340895
10 MED12 NM_005120.2(MED12): c.628G> C (p.Ala210Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 71121045: 71121045
11 MED12 NM_005120.3(MED12): c.2023C> T (p.Leu675Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 71124812: 71124812
12 MED12 NM_005120.3(MED12): c.2023C> T (p.Leu675Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 70344662: 70344662
13 MED12 NM_005120.2: c.5020_5022del undetermined variant Uncertain significance GRCh38 Chromosome X, 71135245: 71135247

Expression for Lujan-Fryns Syndrome

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

Pathways for Lujan-Fryns Syndrome

Pathways related to Lujan-Fryns Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Thyroid hormone signaling pathway hsa04919

GO Terms for Lujan-Fryns Syndrome

Sources for Lujan-Fryns Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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