Lubs X-Linked Mental Retardation Syndrome (MRXSL)

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Disease Ontology 12 DOID:0060799 OMIM 56 300260 OMIM Phenotypic Series 56 PS309510 MeSH 43 C537723 D038901 NCIt 49 C126747 SNOMED-CT 67 702816000 MESH via Orphanet 44 C537723

ICD10 via Orphanet 33 Q99.8 UMLS via Orphanet 72 C1846058 C3714043 Orphanet 58 ORPHA1762 MedGen 41 C1300260 C1846058 SNOMED-CT via HPO 68 11934000 123983008 128545000 128613002 13649004 14582003 14760008 16046003 16331000 191983006 204878001 204888000 21061000119107 22325002 225595004 228156007 235595009 237836003 246545002 247578003 252157006 255314001 271611007 271700006 275295002 275480001 288939007 313307000 35489007 391987005 40700009 40739000 412786000 422775003 48694002 53827007 62718007 69056000 698065002 78667006 84445001 84757009 85102008 90207007 91138005 91175000 95515009 more UMLS 71 C1846058 C3714043

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

Clinical features from OMIM:

300260

Search Clinical Trials , NIH Clinical Center for Lubs X-Linked Mental Retardation Syndrome

Search GEO for disease gene expression data for Lubs X-Linked Mental Retardation Syndrome.