MRXSL
MCID: LBS001
MIFTS: 51
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Lubs X-Linked Mental Retardation Syndrome (MRXSL)
Categories:
Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Lubs X-Linked Mental Retardation Syndrome:
Characteristics:Orphanet epidemiological data:58
trisomy xq28
Age of onset: Antenatal,Neonatal; Age of death: adolescent,adult,early childhood,infantile,late childhood,young Adult; OMIM:56
Miscellaneous:
progressive disorder allelic to rett syndrome female carriers are unaffected or show neuropsychiatric features
Inheritance:
x-linked recessive HPO:31
lubs x-linked mental retardation syndrome:
Onset and clinical course progressive Inheritance x-linked recessive inheritance GeneReviews:24
Penetrance Mecp2 duplications are believed to be completely penetrant in males.
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Mental diseases Gastrointestinal diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
MECP2 duplication syndrome is a severe neurological and developmental disorder. Signs and symptoms include low muscle tone (hypotonia ) in infancy, developmental delay , severe intellectual disability , and progressive spasticity . Other signs and symptoms may include recurrent respiratory infections and seizures . Some people with MECP2 duplication syndrome may have autistic features, gastrointestinal problems, and/or mildly distinctive facial features. The syndrome is caused by having an extra copy (duplication) of the MECP2 gene , and inheritance is X-linked . The syndrome almost always occurs in males (who have one X chromosome ), but some females with the duplication on one of their two X chromosomes have some signs or symptoms. Rarely, females may have severe signs and symptoms, similar to those in males with the syndrome. Treatment is individualized and based on the signs and symptoms in each person. Treatment may involve routine management of feeding difficulties, infections, developmental delays, spasticity, and seizures. Respiratory infections are a major cause of death, with only half of people surviving past 25 years of age.
MalaCards based summary : Lubs X-Linked Mental Retardation Syndrome, also known as mecp2 duplication syndrome, is related to rett syndrome and mecp2 disorders, and has symptoms including seizures, ataxia and constipation. An important gene associated with Lubs X-Linked Mental Retardation Syndrome is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Androgen receptor signaling pathway. Affiliated tissues include eye, brain and cortex, and related phenotypes are delayed skeletal maturation and neurological speech impairment Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has material basis in duplication or triplication of the MECP2 gene on chromosome Xq28. Genetics Home Reference : 25 MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, or muscle stiffness (rigidity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. About half of individuals have seizures, often of the tonic-clonic type. This type of seizure involves a loss of consciousness, muscle rigidity, and convulsions and may not respond to medication. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately half of individuals learn to walk, and about one-third of people with this condition require assistance when walking. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with only half surviving past age 25. MECP2 MECP2 MECP2 OMIM : 56 MECP2 duplication syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections. Only males are affected, although female carriers may have some mild neuropsychiatric features, such as anxiety. Submicroscopic Xq28 duplications encompassing MECP2 are considered nonrecurrent events, because the breakpoint locations and rearrangement sizes vary among affected individuals (summary by Ramocki et al., 2010). (300260) UniProtKB/Swiss-Prot : 73 Mental retardation, X-linked, syndromic, Lubs type: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge.
GeneReviews:
NBK1284
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Human phenotypes related to Lubs X-Linked Mental Retardation Syndrome:58 31 (show all 49)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:300260UMLS symptoms related to Lubs X-Linked Mental Retardation Syndrome:seizures, ataxia, constipation, sleep disturbances, muscle rigidity MGI Mouse Phenotypes related to Lubs X-Linked Mental Retardation Syndrome:45
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Cochrane evidence based reviews: lubs x-linked mental retardation syndrome |
MalaCards organs/tissues related to Lubs X-Linked Mental Retardation Syndrome:40
Eye,
Brain,
Cortex,
Cerebellum,
Prefrontal Cortex,
Thalamus,
Hypothalamus
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Articles related to Lubs X-Linked Mental Retardation Syndrome:(show top 50) (show all 125)
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ClinVar genetic disease variations for Lubs X-Linked Mental Retardation Syndrome:6 (show all 19)
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Pathways related to Lubs X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:
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Cellular components related to Lubs X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Lubs X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Lubs X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:
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