Mental Retardation, X-Linked Syndromic, Lubs Type malady
Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases
Aliases & Descriptions for Mental Retardation, X-Linked Syndromic, Lubs Type:
Penetrance: mecp2 duplications are believed to be completely penetrant in males...
Global: Genetic diseases, Rare diseases
Anatomical: Mental diseases, Neuronal diseases
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, seizures that may not improve with treatment, or muscle stiffness (spasticity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately one third of people with this condition cannot walk without assistance. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with almost half succumbing by age 25.
MalaCards based summary: Mental Retardation, X-Linked Syndromic, Lubs Type, also known as mecp2 duplication syndrome, is related to mental retardation, x-linked, syndromic 13 and distal xq28 microduplication syndrome, and has symptoms including cryptorchidism, narrow mouth and abnormality of the teeth. An important gene associated with Mental Retardation, X-Linked Syndromic, Lubs Type is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include eye.
Disease Ontology:11 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.
NIH Rare Diseases:47 MECP2 duplication syndrome is a genetic condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Other signs and symptoms include infantile hypotonia; delayed motor milestones (i.e. sitting up, crawling); recurrent infections; poor or absent speech; seizures; and/or spasticity. MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The condition is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person. Last updated: 7/23/2015
OMIM:51 MECP2 duplication syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental... (300260) more...
UniProtKB/Swiss-Prot:69 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 for NBK1284
Diseases related to Mental Retardation, X-Linked Syndromic, Lubs Type via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Mental Retardation, X-Linked Syndromic, Lubs Type:
Human phenotypes related to Mental Retardation, X-Linked Syndromic, Lubs Type:63 (show all 32)
UMLS symptoms related to Mental Retardation, X-Linked Syndromic, Lubs Type:ataxia, constipation, drooling, muscle rigidity, seizures, sleep disturbances
MalaCards organs/tissues related to Mental Retardation, X-Linked Syndromic, Lubs Type:35
Clinvar genetic disease variations for Mental Retardation, X-Linked Syndromic, Lubs Type:5
Search GEO for disease gene expression data for Mental Retardation, X-Linked Syndromic, Lubs Type.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet