| Disease Browser
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Parent Node:
 Genetic Diseases, X-Linked (D040181) | Parent Node:
Intellectual Disability (D008607) | Parent Node:
Megalencephaly (D058627) | ..Starting node
.. Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
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Child Nodes:
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Sister Nodes: | ..Bagatelle Cassidy syndrome (C537796)
| ..Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291)
| ..Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly (C565563)
| ..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
| ..Fryns Macrocephaly (C563963)
| ..Hemimegalencephaly (D065705)  1
| ..Kniest like dysplasia lethal (C537208)
| ..Macrocephaly Autism Syndrome (C565342)
| ..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
| ..Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
| ..Macrocephaly, benign familial (C537717)
| ..Macrosomia obesity macrocephaly ocular abnormalities (C535812)
| ..Megalencephaly cutis marmorata telangiectatica congenita (C536142)
| ..Megalencephaly with Dysmyelination (C565408)
| ..Mental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
| ..Mental Retardation, X-Linked 93 (C567066)
| ..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
| ..Neuhauser syndrome (C536143)
| ..Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
| ..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
| ..Vater Association With Hydrocephalus (C564752)
| ..Zori Stalker Williams syndrome (C536728)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 7065 |
| Name: | Mental Retardation, X-Linked, Syndromic, Turner Type |
| Definition: | |
| Alternative IDs: | OMIM:300706 |
| ParentIDs: | MESH:D008607|MESH:D040181|MESH:D058627 |
| TreeNumbers: | C05.660.207.536/C567476 |C10.500.507.400.249/C567476 |C10.597.606.643/C567476 |C16.131.621.207.532/C567476 |C16.131.666.507.400.249/C567476 |C16.320.322/C567476 |C23.888.592.604.646/C567476 |F03.550.600/C567476 |
| Synonyms: | Mental Retardation and Macrocephaly Syndrome |MRXST |MRXS-Turner |
| Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms |
| Reference: |
MedGen: C567476
MeSH: C567476
OMIM: 300706;
Genes: HUWE1; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_031407.6(HUWE1):c.12559C>T (p.Arg4187Cys) | 10075 | HUWE1 | Pathogenic | 121918527 | RCV000011424; | N | MedGen:C2678046,OMIM:300706,ORPHA:85328 | X | 53562435 | 53562435 | NM_031407.6:c.12559C>T | NP_113584.3:p.Arg4187Cys | NC_000023.10:g.53562435G>A | OMIM Allelic Variant:300697.0003 | C2678046 300706 Mental retardation, X-linked, syndromic, turner type | | | | NM_031407.6(HUWE1):c.12037C>T (p.Arg4013Trp) | 10075 | HUWE1 | Pathogenic | 121918525 | RCV000011422; | N | MedGen:C2678046,OMIM:300706,ORPHA:85328 | X | 53564617 | 53564617 | NM_031407.6:c.12037C>T | NP_113584.3:p.Arg4013Trp | NC_000023.10:g.53564617G>A | OMIM Allelic Variant:300697.0001 | C2678046 300706 Mental retardation, X-linked, syndromic, turner type | | | | NM_031407.6(HUWE1):c.8942G>A (p.Arg2981His) | 10075 | HUWE1 | Pathogenic | 121918526 | RCV000011423; | N | MedGen:C2678046,OMIM:300706,ORPHA:85328 | X | 53578381 | 53578381 | NM_031407.6:c.8942G>A | NP_113584.3:p.Arg2981His | NC_000023.10:g.53578381C>T | OMIM Allelic Variant:300697.0002 | C2678046 300706 Mental retardation, X-linked, syndromic, turner type | | | | NM_031407.6(HUWE1):c.4013C>T (p.Ala1338Val) | 10075 | HUWE1 | Likely pathogenic | 863224879 | RCV000196924; | N | MedGen:C2678046,OMIM:300706,ORPHA:85328 | X | 53618042 | 53618042 | NM_031407.6:c.4013C>T | NP_113584.3:p.Ala1338Val | NC_000023.10:g.53618042G>A | - | C2678046 300706 Mental retardation, X-linked, syndromic, turner type | | |
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