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RTS
MCID: RTT002
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Rett Syndrome malady |
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 23MedlinePlus, 31NINDS, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
MedlinePlus: Rett syndrome is a rare inherited disease that causes developmental and nervous system problems, mostly in girls. it's related to autism. babies with rett syndrome seem to grow and develop normally at first. between 3 months and 3 years of age, though, they stop developing and even lose some skills. symptoms include
loss of speech
loss of hand movements such as grasping
compulsive movements such as hand wringing
balance problems
breathing problems
behavior problems
learning problems or mental retardation
rett syndrome has no cure. you can treat some of the symptoms with medicines, surgery, and physical and speech therapy. most people with rett syndrome live into middle age and beyond. they will usually need care throughout their lives.
nih: national institute of child health and human development23
MalaCards: Rett Syndrome, also known as cerebroatrophic hyperammonemia, is related to autistic disorder and classic rett syndrome. An important gene associated with Rett Syndrome is MECP2 (methyl CpG binding protein 2 (Rett syndrome)), and among its related pathways are Selected targets of CREB1 and Neuroscience. The drugs venlafaxine and fenfluramine hydrochloride and the compounds haloperidol and methamphetamine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and t cells, and related mouse phenotypes are taste/olfaction and endocrine/exocrine gland. Disease Ontology: A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused by a mutation on the mecp2 gene on the x chromosome. infants with rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.6 NIH Rare Diseases: Rett syndrome is a childhood disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, abnormal walk (gait), seizures, and mental retardation. It affects females almost exclusively.30 NINDS: 31 Genetics Home Reference: Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with communication and language, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and have a small head size (microcephaly). Other signs and symptoms can include breathing abnormalities, seizures, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances.17 Wikipedia: Rett syndrome, originally termed as cerebroatrophic hyperammonemia, is a neurodevelopmental disorder of...44 more... OMIM: 312750 |
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Sources: 6Disease Ontology, 7diseasecard, 44Wikipedia, 30NIH Rare Diseases, 17Genetics Home Reference, 31NINDS, 8DISEASES, 33OMIM, 32Novoseek , 23MedlinePlus, 43UMLS, 27NCIt, 24MeSH, 40SNOMED-CT See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 312750
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for rett syndrome Drug clinical trials:Search ClinicalTrials for rett syndrome Search NIH Clinical Center for rett syndrome Search CenterWatch for rett syndrome Inferred drug relations via UMLS/NDF-RT:43 28 fenfluramine, fenfluramine hydrochloride, quetiapine, quetiapine fumarate, risperidone, venlafaxine, venlafaxine hydrochloride |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to rett syndrome:22Brain, Cortex, T cells, B cells, Adrenal cortex
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to rett syndrome:25 (show all 23)
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Sources: 35PubMed See all sources |
Articles related to rett syndrome:(show top 50) (show all 286)
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Sources: 1BioGPS See all sources |
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Sources: 10EMD Millipore, 3Cell Signaling Technology, 20KEGG See all sources |
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Sources: 32Novoseek , 34PharmGKB, 9DrugBank, 18HMDB, 42Tocris Bioscience See all sources |
Compounds related to rett syndrome according to GeneDecks:(show top 50) (show all 158)
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Sources: 12Gene Ontology See all sources |
Biological processes related to rett syndrome according to GeneDecks:(show all 10)
Molecular functions related to rett syndrome according to GeneDecks:
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