Mental Retardation, X-Linked, Syndromic 13 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases, Eye diseases, Cardiovascular diseases
Aliases & Descriptions for Mental Retardation, X-Linked, Syndromic 13:
Orphanet epidemiological data:53
x-linked intellectual disability-psychosis-macroorchidism syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Mental diseases, Eye diseases, Cardiovascular diseases
ICD10: 30 29
Rare neurological diseases
Genetics Home Reference:25 PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability. Other symptoms include increased muscle tone and exaggerated reflexes. Affected males may have enlarged testes (macro-orchidism). Not all affected individuals have all these symptoms, but most have intellectual disability. Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability.
MalaCards based summary: Mental Retardation, X-Linked, Syndromic 13, also known as ppm-x syndrome, is related to renpenning syndrome and mental retardation-hypotonic facies syndrome, x-linked, and has symptoms including macroorchidism, behavioral abnormality and hypertonia. An important gene associated with Mental Retardation, X-Linked, Syndromic 13 is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include testes.
Disease Ontology:11 A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has material basis in mutation in the MECP2 gene on chromosome Xq28.
UniProtKB/Swiss-Prot:69 Mental retardation, X-linked, syndromic, 13: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS13 patients manifest mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism.
OMIM:51 The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always... (300055) more...
Diseases in the Mental Retardation, X-Linked, Syndromic 13 family:
Diseases related to Mental Retardation, X-Linked, Syndromic 13 via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Mental Retardation, X-Linked, Syndromic 13:63 (show all 33)
UMLS symptoms related to Mental Retardation, X-Linked, Syndromic 13:muscle spasticity, ataxia, seizures, tremor
MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic 13:35
Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic 13.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet