LFS
MCID: LJN002
MIFTS: 17

Lujan Syndrome (LFS)

Categories: Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Lujan Syndrome

MalaCards integrated aliases for Lujan Syndrome:

Name: Lujan Syndrome 53 25
X-Linked Mental Retardation with Marfanoid Habitus Syndrome 29 6
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size and Distinct Craniofacial Anomalies 53
X-Linked Intellectual Deficit with Marfanoid Habitus 25
X-Linked Mental Retardation with Marfanoid Habitus 25
Xlmr with Marfanoid Features 25
Lujan-Fryns Syndrome 25
Lfs 25

Classifications:



Summaries for Lujan Syndrome

NIH Rare Diseases : 53 Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). Most of the cases occur in males. Lujan syndrome is caused by changes (mutations) in the MED12 gene and is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include special education; physical therapy, occupational therapy, and speech therapy for developmental delays; and medications to control seizures.

MalaCards based summary : Lujan Syndrome, also known as x-linked mental retardation with marfanoid habitus syndrome, is related to li-fraumeni syndrome and lassa fever. An important gene associated with Lujan Syndrome is MED12 (Mediator Complex Subunit 12). Affiliated tissues include brain.

Genetics Home Reference : 25 Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.

Related Diseases for Lujan Syndrome

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 12.2
2 lassa fever 11.4
3 li-fraumeni syndrome 2 11.4
4 lujan-fryns syndrome 11.1
5 adrenocortical carcinoma, hereditary 11.1
6 schizophrenia 10.3
7 autism x-linked 2 10.3
8 eating disorder 10.3
9 brain edema 10.2
10 anthrax disease 10.2
11 filariasis 10.0
12 filarial elephantiasis 10.0
13 gastroesophageal reflux 9.9
14 fryns syndrome 9.9
15 mycosis fungoides 9.9
16 exstrophy of bladder 9.9
17 acute insulin response 9.9
18 anxiety 9.9
19 arthritis 9.9
20 morbid obesity 9.9
21 sleep apnea 9.9
22 brain glioma 9.9
23 syndromic x-linked intellectual disability 14 9.9
24 progressive familial intrahepatic cholestasis 9.9
25 common cold 9.9
26 cholestasis 9.9
27 schistosomiasis 9.9
28 ischemia 9.9
29 glioma 9.9
30 dysphagia 9.9

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



Diseases related to Lujan Syndrome

Symptoms & Phenotypes for Lujan Syndrome

Drugs & Therapeutics for Lujan Syndrome

Search Clinical Trials , NIH Clinical Center for Lujan Syndrome

Genetic Tests for Lujan Syndrome

Genetic tests related to Lujan Syndrome:

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

Anatomical Context for Lujan Syndrome

MalaCards organs/tissues related to Lujan Syndrome:

41
Brain

Publications for Lujan Syndrome

Articles related to Lujan Syndrome:

# Title Authors Year
1
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. ( 17369503 )
2007
2
Lujan syndrome in a Mexican boy. ( 1605262 )
1992

Variations for Lujan Syndrome

ClinVar genetic disease variations for Lujan Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MED12 NM_005120.2(MED12): c.3020A> G (p.Asn1007Ser) single nucleotide variant Pathogenic rs80338759 GRCh37 Chromosome X, 70347781: 70347781
2 MED12 NM_005120.2(MED12): c.3020A> G (p.Asn1007Ser) single nucleotide variant Pathogenic rs80338759 GRCh38 Chromosome X, 71127931: 71127931
3 MED12 NM_005120.2(MED12): c.4669T> C (p.Trp1557Arg) single nucleotide variant Likely pathogenic rs794727576 GRCh37 Chromosome X, 70354258: 70354258
4 MED12 NM_005120.2(MED12): c.4669T> C (p.Trp1557Arg) single nucleotide variant Likely pathogenic rs794727576 GRCh38 Chromosome X, 71134408: 71134408
5 MED12 NM_005120.2(MED12): c.1849A> G (p.Thr617Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs765417606 GRCh37 Chromosome X, 70344113: 70344113
6 MED12 NM_005120.2(MED12): c.1849A> G (p.Thr617Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs765417606 GRCh38 Chromosome X, 71124263: 71124263
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

Expression for Lujan Syndrome

Search GEO for disease gene expression data for Lujan Syndrome.

Pathways for Lujan Syndrome

GO Terms for Lujan Syndrome

Sources for Lujan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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