Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandGynecomastia (D006177)
Parent Node:
expandMental Retardation, X-Linked (D038901)
Parent Node:
expandObesity (D009765)
..Starting node
..expandWilson-Turner X-linked mental retardation syndrome (C536708)

       Child Nodes:



 Sister Nodes: 
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..expandAyazi syndrome (C537793)
..expandBiemond Syndrome II (C565902)
..expandBiemond syndrome type 2 (C535439)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 (OMIM:607514)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 (OMIM:300306)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (OMIM:612362)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 (OMIM:612459)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 (OMIM:612460)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (OMIM:607447)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 (OMIM:608410)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 (OMIM:603188)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 (OMIM:602025)
..expandBorjeson-Forssman-Lehmann syndrome (C536575)
..expandCamera Marugo Cohen syndrome (C537964)
..expandClark-Baraitser syndrome (C536208)
..expandCohen syndrome (C536438)
..expandColoboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
..expandFASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1 (OMIM:606035)
..expandMacrosomia obesity macrocephaly ocular abnormalities (C535812)
..expandMEHMO syndrome (C537451)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMOMES Syndrome (C564660)
..expandMORM syndrome (C536984)
..expandObesity Hypoventilation Syndrome (D010845)
..expandObesity, Abdominal (D056128)
..expandObesity, Hyperphagia, and Developmental Delay (C563938)
..expandObesity, Morbid (D009767)
..expandPediatric Obesity (D063766)
..expandPrader-Willi Syndrome (D011218) Child2
..expandProlactin Deficiency with Obesity and Enlarged Testes (C564870)
..expandProopiomelanocortin Deficiency (C565726)
..expandProprotein Convertase 1 3 Deficiency (C563423)
..expandPROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
..expandShort Stature-Obesity Syndrome (C564821)
..expandVasquez Hurst Sotos syndrome (C536533)
..expandWilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome (C567292)
..expandWilson-Turner X-linked mental retardation syndrome (C536708)
..expandYoung Hughes syndrome (C536715)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11762
Name:Wilson-Turner X-linked mental retardation syndrome
Definition:
Alternative IDs:OMIM:309585
ParentIDs:MESH:D006177|MESH:D009765|MESH:D038901
TreeNumbers:C10.597.606.643.455/C536708 |C16.320.322.500/C536708 |C16.320.400.525/C536708 |C17.800.090.875/C536708 |C18.654.726.500/C536708 |C23.888.144.699.500/C536708
Synonyms:Mental retardation, X-linked, syndromic 6 |Mental retardation, X-linked, with gynecomastia and obesity |MRXS6 |Wilson Turner mental retardation syndrome |WTS
Slim Mappings:Genetic disease (inborn)|Nervous system disease|Nutrition disorder|Signs and symptoms|Skin disease
Reference: MedGen: C536708
MeSH: C536708
OMIM: 309585;

Genes: HDAC8;
Phenotypes
1 HP:0001423X-linked dominant inheritance
2 HP:0001419X-linked recessive inheritance
3 HP:0000248Brachycephaly
4 HP:0000455Broad nasal tip
5 HP:0000028Cryptorchidism
6 HP:0003199Decreased muscle mass
7 HP:0008734Decreased testicular size
8 HP:0000490Deeply set eye
9 HP:0000823Delayed puberty
10 HP:0000750Delayed speech and language development
11 HP:0000712Emotional lability
12 HP:0001263Global developmental delay
13 HP:0000771Gynecomastia
14 HP:0000135Hypogonadism
15 HP:0001252Hypotonia
16 HP:0001249Intellectual disability
17 HP:0002808Kyphosis
18 HP:0000252Microcephaly
19 HP:0000054Micropenis
20 HP:0001513Obesity
21 HP:0001761Pes cavus
22 HP:0001763Pes planus
23 HP:0000336Prominent supraorbital ridges
24 HP:0000278Retrognathia
25 HP:0001250SeizureHP:0040283
26 HP:0400005Short ear
27 HP:0001773Short foot
28 HP:0004322Short stature
29 HP:0200055Small hand
30 HP:0001182Tapered finger
31 HP:0000574Thick eyebrow
32 HP:0000692Tooth malposition
33 HP:0001956Truncal obesity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_018486.2(HDAC8):c.164+5G>A55869HDAC8Pathogenic398122888RCV000030813; NMedGen:C1839736,OMIM:309585,ORPHA:3459X7179190271791902NM_018486.2:c.164+5G>ANC_000023.10:g.71791902C>TOMIM Allelic Variant:300269.0001C1839736 309585 Wilson-Turner X-linked mental retardation syndrome