MRXSH
MCID: MNT192
MIFTS: 40
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Mental Retardation, X-Linked, Syndromic, Hedera Type (MRXSH)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Hedera Type:
Characteristics:Orphanet epidemiological data:58
x-linked intellectual disability, hedera type
Inheritance: X-linked recessive; Age of onset: Infancy; OMIM:56
Miscellaneous:
neurodegeneration variable expressivity onset in infancy progressive disorder three unrelated families have been reported (last curated april 2020)
Inheritance:
x-linked recessive HPO:31
mental retardation, x-linked, syndromic, hedera type:
Onset and clinical course variable expressivity infantile onset Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases
Orphanet: 58
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OMIM :
56
The Hedera type of X-linked syndromic mental retardation (MRXSH) is characterized by global developmental delay apparent from infancy and progressive neurologic decline with abnormal movements, spasticity, and seizures. Brain imaging shows volume loss of cortical white and gray matter, thin corpus callosum, and myelination defects, consistent with a neurodegenerative process. Only males are affected (summary by Hirose et al., 2019). (300423)
MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Hedera Type, also known as mental retardation, x-linked, with epilepsy, is related to electroclinical syndrome and infancy electroclinical syndrome, and has symptoms including drop attack An important gene associated with Mental Retardation, X-Linked, Syndromic, Hedera Type is ATP6AP2 (ATPase H+ Transporting Accessory Protein 2), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Insulin receptor recycling. Affiliated tissues include brain, and related phenotypes are intellectual disability and bilateral tonic-clonic seizure Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has material basis in mutation in the ATP6AP2 gene on chromosome Xp11. UniProtKB/Swiss-Prot : 73 Mental retardation, X-linked, with epilepsy: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXE patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy. |
Diseases related to Mental Retardation, X-Linked, Syndromic, Hedera Type via text searches within MalaCards or GeneCards Suite gene sharing:(show all 11)
Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Hedera Type:![]() |
Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Hedera Type:58 31 (show all 36)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:300423UMLS symptoms related to Mental Retardation, X-Linked, Syndromic, Hedera Type:drop attack |
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MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Hedera Type:40
Brain
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Articles related to Mental Retardation, X-Linked, Syndromic, Hedera Type:
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ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Hedera Type:6 (show all 25)
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GEO
for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Hedera Type.
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Pathways related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:
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Cellular components related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:
Biological processes related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:
Molecular functions related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:
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