MCID: XLN179
MIFTS: 19

X-Linked Intellectual Disability, Turner Type

Categories: Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability, Turner Type

MalaCards integrated aliases for X-Linked Intellectual Disability, Turner Type:

Name: X-Linked Intellectual Disability, Turner Type 20 6

Classifications:



Summaries for X-Linked Intellectual Disability, Turner Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85328 Definition X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

MalaCards based summary : X-Linked Intellectual Disability, Turner Type is related to syndromic x-linked intellectual disability turner type. An important gene associated with X-Linked Intellectual Disability, Turner Type is HUWE1 (HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1). Related phenotypes are coarse facial features and delayed speech and language development

Related Diseases for X-Linked Intellectual Disability, Turner Type

Diseases related to X-Linked Intellectual Disability, Turner Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability turner type 11.7

Symptoms & Phenotypes for X-Linked Intellectual Disability, Turner Type

Human phenotypes related to X-Linked Intellectual Disability, Turner Type:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 31 hallmark (90%) HP:0000280
2 delayed speech and language development 31 hallmark (90%) HP:0000750
3 intellectual disability, mild 31 hallmark (90%) HP:0001256
4 intellectual disability, moderate 31 hallmark (90%) HP:0002342
5 macrocephaly 31 frequent (33%) HP:0000256
6 intellectual disability, severe 31 frequent (33%) HP:0010864
7 hyperreflexia 31 occasional (7.5%) HP:0001347
8 global developmental delay 31 occasional (7.5%) HP:0001263
9 macroorchidism 31 occasional (7.5%) HP:0000053
10 hypertonia 31 occasional (7.5%) HP:0001276
11 female infertility 31 occasional (7.5%) HP:0008222
12 obesity 31 occasional (7.5%) HP:0001513
13 abnormal fingernail morphology 31 occasional (7.5%) HP:0001231
14 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
15 holoprosencephaly 31 occasional (7.5%) HP:0001360
16 long face 31 occasional (7.5%) HP:0000276
17 pointed chin 31 occasional (7.5%) HP:0000307
18 hypotelorism 31 occasional (7.5%) HP:0000601
19 tapered finger 31 occasional (7.5%) HP:0001182
20 absent nares 31 occasional (7.5%) HP:0100596
21 ankle flexion contracture 31 occasional (7.5%) HP:0006466
22 delayed gross motor development 31 occasional (7.5%) HP:0002194
23 limited elbow extension 31 occasional (7.5%) HP:0001377
24 seizure 31 occasional (7.5%) HP:0001250

Drugs & Therapeutics for X-Linked Intellectual Disability, Turner Type

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability, Turner Type

Genetic Tests for X-Linked Intellectual Disability, Turner Type

Anatomical Context for X-Linked Intellectual Disability, Turner Type

Publications for X-Linked Intellectual Disability, Turner Type

Articles related to X-Linked Intellectual Disability, Turner Type:

(show all 11)
# Title Authors PMID Year
1
Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome. 6
30797980 2020
2
Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability. 6
29651030 2018
3
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. 6
29180823 2018
4
Diagnostic value of exome and whole genome sequencing in craniosynostosis. 6
27884935 2017
5
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. 6
27130160 2016
6
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. 6
25985138 2015
7
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. 6
18252223 2008
8
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. 6
16700052 2006
9
X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization. 6
7943042 1994
10
New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation. 6
7943044 1994
11
A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism. 6
6107045 1980

Variations for X-Linked Intellectual Disability, Turner Type

ClinVar genetic disease variations for X-Linked Intellectual Disability, Turner Type:

6 (show all 48)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HUWE1 NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) SNV Pathogenic 10676 rs121918525 GRCh37: X:53564617-53564617
GRCh38: X:53537656-53537656
2 HUWE1 NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His) SNV Pathogenic 10677 rs121918526 GRCh37: X:53578381-53578381
GRCh38: X:53551420-53551420
3 HUWE1 NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) SNV Pathogenic 10678 rs121918527 GRCh37: X:53562435-53562435
GRCh38: X:53535474-53535474
4 HUWE1 NM_031407.7(HUWE1):c.12188G>A (p.Arg4063Gln) SNV Pathogenic 627417 rs1569399945 GRCh37: X:53563578-53563578
GRCh38: X:53536617-53536617
5 HUWE1 NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) SNV Pathogenic 379239 rs1057520538 GRCh37: X:53674334-53674334
GRCh38: X:53647391-53647391
6 HUWE1 NM_031407.7(HUWE1):c.145-2A>G SNV Pathogenic 617512 rs1569509136 GRCh37: X:53674519-53674519
GRCh38: X:53647576-53647576
7 HUWE1 NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) SNV Pathogenic 375709 rs1557036768 GRCh37: X:53674333-53674333
GRCh38: X:53647390-53647390
8 HUWE1 NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg) SNV Pathogenic 375725 rs1556909287 GRCh37: X:53561062-53561062
GRCh38: X:53534101-53534101
9 HUWE1 NM_031407.7(HUWE1):c.567+1G>C SNV Pathogenic 375711 rs1557024919 GRCh37: X:53661187-53661187
GRCh38: X:53634235-53634235
10 HUWE1 NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) SNV Pathogenic/Likely pathogenic 280723 rs886041876 GRCh37: X:53578039-53578039
GRCh38: X:53551078-53551078
11 HUWE1 NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val) SNV Likely pathogenic 375722 rs1556912828 GRCh37: X:53563170-53563170
GRCh38: X:53536209-53536209
12 HUWE1 NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) SNV Likely pathogenic 375718 rs1556914274 GRCh37: X:53564587-53564587
GRCh38: X:53537626-53537626
13 HUWE1 NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn) SNV Likely pathogenic 375724 rs1325394060 GRCh37: X:53561105-53561105
GRCh38: X:53534144-53534144
14 HUWE1 NM_031407.7(HUWE1):c.4013C>T (p.Ala1338Val) SNV Likely pathogenic 216942 rs863224879 GRCh37: X:53618042-53618042
GRCh38: X:53591082-53591082
15 HUWE1 NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His) SNV Likely pathogenic 374333 rs1057518704 GRCh37: X:53622288-53622288
GRCh38: X:53595328-53595328
16 HUWE1 NM_031407.7(HUWE1):c.6098-20_6109del Deletion Likely pathogenic 807431 rs1602738933 GRCh37: X:53600913-53600944
GRCh38: X:53573953-53573984
17 HUWE1 NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg) SNV Likely pathogenic 375712 rs1557006903 GRCh37: X:53642776-53642776
GRCh38: X:53615815-53615815
18 HUWE1 NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys) SNV Likely pathogenic 375721 rs1556913180 GRCh37: X:53563449-53563449
GRCh38: X:53536488-53536488
19 HUWE1 NM_031407.7(HUWE1):c.6267T>G (p.Ile2089Met) SNV Likely pathogenic 375716 rs1556955128 GRCh37: X:53600755-53600755
GRCh38: X:53573795-53573795
20 HUWE1 NM_031407.7(HUWE1):c.344C>T (p.Ser115Phe) SNV Likely pathogenic 375710 rs1557036757 GRCh37: X:53674318-53674318
GRCh38: X:53647375-53647375
21 HUWE1 NM_031407.7(HUWE1):c.2007T>G (p.His669Gln) SNV Likely pathogenic 375713 rs1557006873 GRCh37: X:53642747-53642747
GRCh38: X:53615786-53615786
22 HUWE1 NM_031407.7(HUWE1):c.12225C>G (p.Asn4075Lys) SNV Likely pathogenic 375720 rs1556913258 GRCh37: X:53563541-53563541
GRCh38: X:53536580-53536580
23 HUWE1 NM_031407.7(HUWE1):c.12732G>C (p.Glu4244Asp) SNV Likely pathogenic 375723 rs1556910184 GRCh37: X:53561576-53561576
GRCh38: X:53534615-53534615
24 HUWE1 NM_031407.7(HUWE1):c.12205A>T (p.Ile4069Phe) SNV Likely pathogenic 375719 rs1556913268 GRCh37: X:53563561-53563561
GRCh38: X:53536600-53536600
25 HUWE1 NM_031407.7(HUWE1):c.3982A>G (p.Met1328Val) SNV Likely pathogenic 375714 rs1556978515 GRCh37: X:53618073-53618073
GRCh38: X:53591113-53591113
26 HUWE1 NM_031407.7(HUWE1):c.9581T>C (p.Phe3194Ser) SNV Likely pathogenic 375717 rs782393002 GRCh37: X:53576374-53576374
GRCh38: X:53549413-53549413
27 HUWE1 NM_031407.7(HUWE1):c.12671C>T (p.Ala4224Val) SNV Uncertain significance 96204 rs398124423 GRCh37: X:53561637-53561637
GRCh38: X:53534676-53534676
28 HUWE1 NM_031407.7(HUWE1):c.7633C>T (p.Arg2545Cys) SNV Uncertain significance 976138 GRCh37: X:53587252-53587252
GRCh38: X:53560291-53560291
29 HUWE1 NM_031407.7(HUWE1):c.1612A>G (p.Thr538Ala) SNV Uncertain significance 976352 GRCh37: X:53651616-53651616
GRCh38: X:53624655-53624655
30 HUWE1 NM_031407.7(HUWE1):c.10580T>C (p.Val3527Ala) SNV Uncertain significance 982729 GRCh37: X:53574690-53574690
GRCh38: X:53547729-53547729
31 HUWE1 NM_031407.7(HUWE1):c.11870G>A (p.Arg3957His) SNV Uncertain significance 982971 GRCh37: X:53565804-53565804
GRCh38: X:53538843-53538843
32 HUWE1 NM_031407.7(HUWE1):c.1355G>C (p.Gly452Ala) SNV Uncertain significance 983000 GRCh37: X:53654718-53654718
GRCh38: X:53627767-53627767
33 HUWE1 NM_031407.7(HUWE1):c.5662G>A (p.Val1888Met) SNV Uncertain significance 521754 rs782222601 GRCh37: X:53607845-53607845
GRCh38: X:53580885-53580885
34 HUWE1 NM_031407.7(HUWE1):c.8371G>T (p.Ala2791Ser) SNV Uncertain significance 996861 GRCh37: X:53581717-53581717
GRCh38: X:53554756-53554756
35 HUWE1 NM_031407.7(HUWE1):c.12639G>A (p.Met4213Ile) SNV Uncertain significance 1048095 GRCh37: X:53562355-53562355
GRCh38: X:53535394-53535394
36 HUWE1 NM_031407.7(HUWE1):c.3896G>A (p.Arg1299Gln) SNV Uncertain significance 812006 rs781793405 GRCh37: X:53619434-53619434
GRCh38: X:53592474-53592474
37 HUWE1 NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys) SNV Uncertain significance 828162 rs1602749982 GRCh37: X:53602647-53602647
GRCh38: X:53575687-53575687
38 HUWE1 NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln) SNV Uncertain significance 870378 GRCh37: X:53572074-53572074
GRCh38: X:53545113-53545113
39 HUWE1 NM_031407.7(HUWE1):c.4639G>A (p.Val1547Met) SNV Uncertain significance 634630 rs1569473370 GRCh37: X:53613845-53613845
GRCh38: X:53586885-53586885
40 HUWE1 NM_031407.7(HUWE1):c.659C>T (p.Thr220Ile) SNV Uncertain significance 690383 rs782119109 GRCh37: X:53658553-53658553
GRCh38: X:53631601-53631601
41 HUWE1 NM_031407.7(HUWE1):c.11701C>T (p.Arg3901Ter) SNV Uncertain significance 225389 rs1085307073 GRCh37: X:53565973-53565973
GRCh38: X:53539012-53539012
42 HUWE1 NM_031407.7(HUWE1):c.4229C>T (p.Ala1410Val) SNV Uncertain significance 547839 rs200500110 GRCh37: X:53616739-53616739
GRCh38: X:53589779-53589779
43 HUWE1 NM_031407.7(HUWE1):c.-24-2A>G SNV Uncertain significance 561031 rs1569511527 GRCh37: X:53681077-53681077
GRCh38: X:53654133-53654133
44 HUWE1 NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe) SNV Uncertain significance 424416 rs143599552 GRCh37: X:53561130-53561130
GRCh38: X:53534169-53534169
45 HUWE1 NM_031407.7(HUWE1):c.4546C>G (p.Gln1516Glu) SNV Likely benign 804010 rs1602910127 GRCh37: X:53615410-53615410
GRCh38: X:53588450-53588450
46 HUWE1 NM_031407.7(HUWE1):c.8313A>T (p.Gln2771His) SNV Likely benign 982835 GRCh37: X:53581775-53581775
GRCh38: X:53554814-53554814
47 HUWE1 NM_031407.7(HUWE1):c.4942A>T (p.Ser1648Cys) SNV Benign 375715 rs201226547 GRCh37: X:53612031-53612031
GRCh38: X:53585071-53585071
48 HUWE1 NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His) SNV not provided 841299 GRCh37: X:53578038-53578038
GRCh38: X:53551077-53551077

Expression for X-Linked Intellectual Disability, Turner Type

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Pathways for X-Linked Intellectual Disability, Turner Type

GO Terms for X-Linked Intellectual Disability, Turner Type

Sources for X-Linked Intellectual Disability, Turner Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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