MCID: LJN002
MIFTS: 12

Lujan Syndrome

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

Aliases & Classifications for Lujan Syndrome

MalaCards integrated aliases for Lujan Syndrome:

Name: Lujan Syndrome 49 24
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size and Distinct Craniofacial Anomalies 49
X-Linked Intellectual Deficit with Marfanoid Habitus 24
X-Linked Mental Retardation with Marfanoid Habitus 24
Xlmr with Marfanoid Features 24
Lujan-Fryns Syndrome 24
Lfs 24

Classifications:



Summaries for Lujan Syndrome

NIH Rare Diseases : 49 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. Last updated: 11/10/2015

MalaCards based summary : Lujan Syndrome, also known as marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies, is related to li-fraumeni syndrome and lujan-fryns syndrome. An important gene associated with Lujan Syndrome is MED12 (Mediator Complex Subunit 12).

Genetics Home Reference : 24 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:

# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 12.1
2 lujan-fryns syndrome 11.0

Symptoms & Phenotypes for Lujan Syndrome

Drugs & Therapeutics for Lujan Syndrome

Search Clinical Trials , NIH Clinical Center for Lujan Syndrome

Genetic Tests for Lujan Syndrome

Anatomical Context for Lujan Syndrome

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

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

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70 UMLS via Orphanet
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