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MRXE
MCID: MNT192
MIFTS: 35
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Mental Retardation, X-Linked, Syndromic, Hedera Type (MRXE)
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:59
x-linked intellectual disability, hedera type
Inheritance: X-linked recessive; Age of onset: Infancy; OMIM:57
Miscellaneous:
variable expressivity onset in infancy two unrelated families have been reported (last curated january 2017)
Inheritance:
x-linked recessive HPO:32
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 |
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UniProtKB/Swiss-Prot
:
75
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.
MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Hedera Type, also known as mrxsh, is related to infancy electroclinical syndrome and generalized epilepsy with febrile seizures plus, 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 Taste transduction and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. Affiliated tissues include temporal lobe, and related phenotypes are intellectual disability and gait disturbance 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.
Description from OMIM:
300423
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Diseases related to Mental Retardation, X-Linked, Syndromic, Hedera Type via text searches within MalaCards or GeneCards Suite gene sharing:(show all 12)
Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Hedera Type:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300423Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Hedera Type:32 (show all 17)
UMLS symptoms related to Mental Retardation, X-Linked, Syndromic, Hedera Type:drop attack GenomeRNAi Phenotypes related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Mental Retardation, X-Linked, Syndromic, Hedera Type:46
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MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Hedera Type:41
Temporal Lobe
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Genes related to Mental Retardation, X-Linked, Syndromic, Hedera Type (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Hedera Type:6 (show all 34)
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Search
GEO
for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Hedera Type.
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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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