LFS
MCID: LJN002
MIFTS: 17
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Lujan Syndrome (LFS)
Categories:
Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Lujan Syndrome:
Classifications:
MalaCards categories:
Global: Rare diseases Anatomical: Neuronal diseases Reproductive diseases Mental diseases |
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. |
Diseases related to Lujan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 30)
Graphical network of the top 20 diseases related to Lujan Syndrome:![]() |
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MalaCards organs/tissues related to Lujan Syndrome:41
Brain
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ClinVar genetic disease variations for Lujan Syndrome:6
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Search
GEO
for disease gene expression data for Lujan Syndrome.
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