MCID: XLN179
MIFTS: 14

X-Linked Intellectual Disability, Turner Type

Categories: Neuronal diseases, 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 54 60

Characteristics:

Orphanet epidemiological data:

60
x-linked intellectual disability, turner type
Inheritance: X-linked dominant;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for X-Linked Intellectual Disability, Turner Type

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85328Disease definitionX-linkedintellectual 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.Visit the Orphanet disease page for more resources.

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 12.6

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

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

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
2 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
3 intellectual disability, mild 60 33 hallmark (90%) Very frequent (99-80%) HP:0001256
4 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342
5 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
6 intellectual disability, severe 60 33 frequent (33%) Frequent (79-30%) HP:0010864
7 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
8 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
9 hyperreflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001347
10 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
11 macroorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000053
12 hypertonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001276
13 female infertility 60 33 occasional (7.5%) Occasional (29-5%) HP:0008222
14 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
15 long face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000276
16 pointed chin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000307
17 holoprosencephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001360
18 hypotelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000601
19 tapered finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0001182
20 absent nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0100596
21 ankle contracture 60 33 occasional (7.5%) Occasional (29-5%) HP:0006466
22 delayed gross motor development 60 33 occasional (7.5%) Occasional (29-5%) HP:0002194
23 limited elbow extension 60 33 occasional (7.5%) Occasional (29-5%) HP:0001377
24 abnormal fingernail morphology 33 occasional (7.5%) HP:0001231
25 intellectual disability 60 Very frequent (99-80%)
26 abnormality of the fingernails 60 Occasional (29-5%)
27 long fingers 60 Occasional (29-5%)

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

Variations for X-Linked Intellectual Disability, Turner Type

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

6 (show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 HUWE1 NM_031407.6(HUWE1): c.12037C> T (p.Arg4013Trp) single nucleotide variant Pathogenic rs121918525 GRCh37 Chromosome X, 53564617: 53564617
2 HUWE1 NM_031407.6(HUWE1): c.12037C> T (p.Arg4013Trp) single nucleotide variant Pathogenic rs121918525 GRCh38 Chromosome X, 53537656: 53537656
3 HUWE1 NM_031407.4(HUWE1): c.8942G> A (p.Arg2981His) single nucleotide variant Likely pathogenic rs121918526 GRCh37 Chromosome X, 53578381: 53578381
4 HUWE1 NM_031407.4(HUWE1): c.8942G> A (p.Arg2981His) single nucleotide variant Likely pathogenic rs121918526 GRCh38 Chromosome X, 53551420: 53551420
5 HUWE1 NM_031407.6(HUWE1): c.12559C> T (p.Arg4187Cys) single nucleotide variant Likely pathogenic rs121918527 GRCh37 Chromosome X, 53562435: 53562435
6 HUWE1 NM_031407.6(HUWE1): c.12559C> T (p.Arg4187Cys) single nucleotide variant Likely pathogenic rs121918527 GRCh38 Chromosome X, 53535474: 53535474
7 HUWE1 NM_031407.6(HUWE1): c.4013C> T (p.Ala1338Val) single nucleotide variant Likely pathogenic rs863224879 GRCh38 Chromosome X, 53591082: 53591082
8 HUWE1 NM_031407.6(HUWE1): c.4013C> T (p.Ala1338Val) single nucleotide variant Likely pathogenic rs863224879 GRCh37 Chromosome X, 53618042: 53618042
9 HUWE1 NM_031407.6(HUWE1): c.11701C> T (p.Arg3901Ter) single nucleotide variant Uncertain significance rs1085307073 GRCh37 Chromosome X, 53565973: 53565973
10 HUWE1 NM_031407.6(HUWE1): c.11701C> T (p.Arg3901Ter) single nucleotide variant Uncertain significance rs1085307073 GRCh38 Chromosome X, 53539012: 53539012
11 HUWE1 NM_031407.6(HUWE1): c.9208C> T (p.Arg3070Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886041876 GRCh37 Chromosome X, 53578039: 53578039
12 HUWE1 NM_031407.6(HUWE1): c.9208C> T (p.Arg3070Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886041876 GRCh38 Chromosome X, 53551078: 53551078
13 HUWE1 NM_031407.6(HUWE1): c.3239G> A (p.Arg1080His) single nucleotide variant Likely pathogenic rs1057518704 GRCh37 Chromosome X, 53622288: 53622288
14 HUWE1 NM_031407.6(HUWE1): c.3239G> A (p.Arg1080His) single nucleotide variant Likely pathogenic rs1057518704 GRCh38 Chromosome X, 53595328: 53595328
15 HUWE1 NM_031407.6(HUWE1): c.12928G> C (p.Gly4310Arg) single nucleotide variant Pathogenic rs1556909287 GRCh38 Chromosome X, 53534101: 53534101
16 HUWE1 NM_031407.6(HUWE1): c.12928G> C (p.Gly4310Arg) single nucleotide variant Pathogenic rs1556909287 GRCh37 Chromosome X, 53561062: 53561062
17 HUWE1 NM_031407.6(HUWE1): c.12885G> C (p.Lys4295Asn) single nucleotide variant Likely pathogenic rs1325394060 GRCh37 Chromosome X, 53561105: 53561105
18 HUWE1 NM_031407.6(HUWE1): c.12885G> C (p.Lys4295Asn) single nucleotide variant Likely pathogenic rs1325394060 GRCh38 Chromosome X, 53534144: 53534144
19 HUWE1 NM_031407.6(HUWE1): c.12732G> C (p.Glu4244Asp) single nucleotide variant Likely pathogenic rs1556910184 GRCh37 Chromosome X, 53561576: 53561576
20 HUWE1 NM_031407.6(HUWE1): c.12732G> C (p.Glu4244Asp) single nucleotide variant Likely pathogenic rs1556910184 GRCh38 Chromosome X, 53534615: 53534615
21 HUWE1 NM_031407.6(HUWE1): c.12469C> G (p.Leu4157Val) single nucleotide variant Likely pathogenic rs1556912828 GRCh37 Chromosome X, 53563170: 53563170
22 HUWE1 NM_031407.6(HUWE1): c.12469C> G (p.Leu4157Val) single nucleotide variant Likely pathogenic rs1556912828 GRCh38 Chromosome X, 53536209: 53536209
23 HUWE1 NM_031407.6(HUWE1): c.12317A> G (p.Tyr4106Cys) single nucleotide variant Likely pathogenic rs1556913180 GRCh37 Chromosome X, 53563449: 53563449
24 HUWE1 NM_031407.6(HUWE1): c.12317A> G (p.Tyr4106Cys) single nucleotide variant Likely pathogenic rs1556913180 GRCh38 Chromosome X, 53536488: 53536488
25 HUWE1 NM_031407.6(HUWE1): c.12225C> G (p.Asn4075Lys) single nucleotide variant Likely pathogenic rs1556913258 GRCh38 Chromosome X, 53536580: 53536580
26 HUWE1 NM_031407.6(HUWE1): c.12225C> G (p.Asn4075Lys) single nucleotide variant Likely pathogenic rs1556913258 GRCh37 Chromosome X, 53563541: 53563541
27 HUWE1 NM_031407.6(HUWE1): c.12205A> T (p.Ile4069Phe) single nucleotide variant Likely pathogenic rs1556913268 GRCh37 Chromosome X, 53563561: 53563561
28 HUWE1 NM_031407.6(HUWE1): c.12205A> T (p.Ile4069Phe) single nucleotide variant Likely pathogenic rs1556913268 GRCh38 Chromosome X, 53536600: 53536600
29 HUWE1 NM_031407.6(HUWE1): c.12067C> T (p.Arg4023Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1556914274 GRCh37 Chromosome X, 53564587: 53564587
30 HUWE1 NM_031407.6(HUWE1): c.12067C> T (p.Arg4023Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1556914274 GRCh38 Chromosome X, 53537626: 53537626
31 HUWE1 NM_031407.6(HUWE1): c.9581T> C (p.Phe3194Ser) single nucleotide variant Likely pathogenic rs782393002 GRCh37 Chromosome X, 53576374: 53576374
32 HUWE1 NM_031407.6(HUWE1): c.9581T> C (p.Phe3194Ser) single nucleotide variant Likely pathogenic rs782393002 GRCh38 Chromosome X, 53549413: 53549413
33 HUWE1 NM_031407.6(HUWE1): c.6267T> G (p.Ile2089Met) single nucleotide variant Likely pathogenic rs1556955128 GRCh37 Chromosome X, 53600755: 53600755
34 HUWE1 NM_031407.6(HUWE1): c.6267T> G (p.Ile2089Met) single nucleotide variant Likely pathogenic rs1556955128 GRCh38 Chromosome X, 53573795: 53573795
35 HUWE1 NM_031407.6(HUWE1): c.4942A> T (p.Ser1648Cys) single nucleotide variant Benign rs201226547 GRCh37 Chromosome X, 53612031: 53612031
36 HUWE1 NM_031407.6(HUWE1): c.4942A> T (p.Ser1648Cys) single nucleotide variant Benign rs201226547 GRCh38 Chromosome X, 53585071: 53585071
37 HUWE1 NM_031407.6(HUWE1): c.3982A> G (p.Met1328Val) single nucleotide variant Likely pathogenic rs1556978515 GRCh38 Chromosome X, 53591113: 53591113
38 HUWE1 NM_031407.6(HUWE1): c.3982A> G (p.Met1328Val) single nucleotide variant Likely pathogenic rs1556978515 GRCh37 Chromosome X, 53618073: 53618073
39 HUWE1 NM_031407.6(HUWE1): c.2007T> G (p.His669Gln) single nucleotide variant Likely pathogenic rs1557006873 GRCh38 Chromosome X, 53615786: 53615786
40 HUWE1 NM_031407.6(HUWE1): c.2007T> G (p.His669Gln) single nucleotide variant Likely pathogenic rs1557006873 GRCh37 Chromosome X, 53642747: 53642747
41 HUWE1 NM_031407.6(HUWE1): c.1978G> A (p.Gly660Arg) single nucleotide variant Likely pathogenic rs1557006903 GRCh37 Chromosome X, 53642776: 53642776
42 HUWE1 NM_031407.6(HUWE1): c.1978G> A (p.Gly660Arg) single nucleotide variant Likely pathogenic rs1557006903 GRCh38 Chromosome X, 53615815: 53615815
43 HUWE1 NM_031407.6(HUWE1): c.567+1G> C single nucleotide variant Pathogenic rs1557024919 GRCh38 Chromosome X, 53634235: 53634235
44 HUWE1 NM_031407.6(HUWE1): c.567+1G> C single nucleotide variant Pathogenic rs1557024919 GRCh37 Chromosome X, 53661187: 53661187
45 HUWE1 NM_031407.6(HUWE1): c.344C> T (p.Ser115Phe) single nucleotide variant Likely pathogenic rs1557036757 GRCh37 Chromosome X, 53674318: 53674318
46 HUWE1 NM_031407.6(HUWE1): c.344C> T (p.Ser115Phe) single nucleotide variant Likely pathogenic rs1557036757 GRCh38 Chromosome X, 53647375: 53647375
47 HUWE1 NM_031407.7(HUWE1): c.329G> A (p.Arg110Gln) single nucleotide variant Pathogenic rs1557036768 GRCh37 Chromosome X, 53674333: 53674333
48 HUWE1 NM_031407.7(HUWE1): c.329G> A (p.Arg110Gln) single nucleotide variant Pathogenic rs1557036768 GRCh38 Chromosome X, 53647390: 53647390
49 HUWE1 NM_031407.6(HUWE1): c.328C> T (p.Arg110Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1057520538 GRCh37 Chromosome X, 53674334: 53674334
50 HUWE1 NM_031407.6(HUWE1): c.328C> T (p.Arg110Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1057520538 GRCh38 Chromosome X, 53647391: 53647391

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

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