WTS
MCID: INT449
MIFTS: 49

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type (WTS)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Intellectual Developmental Disorder, X-Linked, Syndromic,...

MalaCards integrated aliases for Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type:

Name: Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type 57 73 28 5
Wilson-Turner Syndrome 57 11 19 58 75 73 28 5 14
Wts 57 11 19 58 73
Mrxs6 57 11 19 73
X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome 11 19 58
Mental Retardation, X-Linked, with Gynecomastia and Obesity 57 11
Wilson-Turner X-Linked Mental Retardation Syndrome 57 71
Mental Retardation, X-Linked, Syndromic 6 57 11
Mrxswt 57 73
Intellectual Disability, X-Linked, with Gynecomastia and Obesity 19
X-Linked Intellectual Disability - Gynecomastia - Obesity 19
Intellectual Disability, X-Linked, Syndromic 6 19
Wilson Turner Intellectual Disability Syndrome 19

Characteristics:


Inheritance:

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type: X-linked recessive 57
Wilson-Turner Syndrome: X-linked dominant,X-linked recessive 58

Prevelance:

Wilson-Turner Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Wilson-Turner Syndrome: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
two unrelated families have been reported (last curated august 2016)


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Disease Ontology: 11 A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has material basis in hemizygous mutation in the LAS1L gene on chromosome Xq12.

MalaCards based summary: Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type, also known as wilson-turner syndrome, is related to wilms tumor 5 and wilms tumor 1. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type is LAS1L (LAS1 Like Ribosome Biogenesis Factor), and among its related pathways/superpathways are Signaling by Receptor Tyrosine Kinases and fMLP Pathway. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and emotional lability

OMIM®: 57 Wilson-Turner syndrome (WTS) is an X-linked recessive neurologic disorder characterized by intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Females are unaffected (Wilson et al., 1991). (309585) (Updated 08-Dec-2022)

GARD: 19 Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

Orphanet: 58 Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

UniProtKB/Swiss-Prot: 73 A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males.

Wikipedia: 75 Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental... more...

Related Diseases for Intellectual Developmental Disorder, X-Linked, Syndromic,...

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 5 30.5 WT1 POU6F2 IGF2
2 wilms tumor 1 30.1 WT1 SIX2 SIX1 POU6F2 MYCN MIR483
3 renal hypoplasia 10.4 WT1 SIX2 SIX1
4 cauda equina neoplasm 10.4 WT1 RBFOX3
5 hemihyperplasia, isolated 10.4 WT1 IGF2
6 gene duplication disease 10.4 PVALB FMR1 DLG4
7 hereditary wilms' tumor 10.4 WT1 AMER1
8 townes-brocks syndrome 10.4 SIX2 SIX1 CTNNB1
9 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.4 WT1 IGF2 AMER1
10 adrenal cortical adenoma 10.4 MIR483 IGF2 CTNNB1
11 renal hypodysplasia/aplasia 1 10.4 WT1 SIX2 SIX1 IGF2
12 adrenal cortex disease 10.4 MIR483 IGF2 CTNNB1
13 adrenal gland disease 10.4 MIR483 IGF2 CTNNB1
14 carney complex variant 10.4 MIR483 IGF2 CTNNB1
15 skeletal muscle cancer 10.4 WT1 MYCN MIR483 IGF2
16 rectum adenocarcinoma 10.4 GAPDH CTNNB1 AMER1
17 vaginal adenoma 10.4 IGF2 CTNNB1
18 ovarian cystadenocarcinoma 10.4 MIR483 GAPDH CTNNB1 ACTB
19 disorder of sexual development 10.4 WT1 MIR483 FMR1 CTNNB1
20 gastrointestinal system benign neoplasm 10.4 MIR483 IGF2 CTNNB1
21 sarcoma, synovial 10.4 WT1 MYCN IGF2 CTNNB1
22 learning disability 10.4 MYCN FMR1 DLG4
23 colorectal adenocarcinoma 10.4 GAPDH CTNNB1 ACTB
24 li-fraumeni syndrome 10.3 MYCN MIR483 IGF2 CTNNB1
25 testicular fibroma 10.3 WT1 CTNNB1
26 pervasive developmental disorder 10.3 RBFOX3 PVALB FMR1 DLG4
27 embryonal rhabdomyosarcoma 10.3 WT1 MYCN IGF2
28 muscle cancer 10.3 WT1 MYCN MIR483 IGF2 CTNNB1
29 ovary adenocarcinoma 10.3 WT1 MIR483 GAPDH CTNNB1 ACTB
30 suppression of tumorigenicity 12 10.3 MYCN GAPDH CTNNB1 ACTB
31 malignant ovarian surface epithelial-stromal neoplasm 10.3 WT1 MIR483 GAPDH CTNNB1 ACTB
32 pick disease of brain 10.3 RBFOX3 DLG4 AIF1 ACTB
33 exudative vitreoretinopathy 1 10.3 CTNNB1 AIF1 ACTB
34 vaginal benign neoplasm 10.3 IGF2 CTNNB1
35 adrenal carcinoma 10.3 MIR483 IGF2 CTNNB1
36 hepatoblastoma 10.3 WT1 MYCN MIR483 IGF2 CTNNB1
37 adrenal cortical carcinoma 10.3 MIR483 IGF2 GAPDH CTNNB1 ACTB
38 peripheral nervous system neoplasm 10.3 MYCN GAPDH CTNNB1 ACTB
39 amyotrophic lateral sclerosis 3 10.3 DLG4 AIF1
40 beckwith-wiedemann syndrome 10.3 WT1 MIR483 IGF2 FMR1 CTNNB1 AMER1
41 rhabdomyosarcoma 2 10.3 WT1 MYCN IGF2
42 autonomic nervous system neoplasm 10.3 MYCN MIR483 GAPDH CTNNB1 ACTB
43 toxic encephalopathy 10.3 RBFOX3 GAPDH DLG4 AIF1 ACTB
44 disease of mental health 10.3 RBFOX3 PVALB FMR1 DLG4 AIF1
45 ovarian disease 10.3 MIR483 GAPDH FMR1 CTNNB1 ACTB
46 head and neck cancer 10.3 MIR483 GAPDH CTNNB1 ACTB
47 chromophobe renal cell carcinoma 10.3 GAPDH CTNNB1 ACTB
48 attention deficit-hyperactivity disorder 10.3 RBFOX3 PVALB FMR1 DLGAP3 DLG4
49 specific developmental disorder 10.3 RBFOX3 PVALB GAPDH FMR1 DLG4 ACTB
50 leukemia, acute myeloid 10.2 WT1 MYCN MIR483 GAPDH CTNNB1 ACTB

Graphical network of the top 20 diseases related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type:



Diseases related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Symptoms & Phenotypes for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Human phenotypes related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type:

58 30 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001249
2 emotional lability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000712
3 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
4 prominent supraorbital ridges 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000336
5 pes planus 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001763
6 abnormal facial shape 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001999
7 microtia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008551
8 thick eyebrow 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000574
9 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
10 cryptorchidism 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000028
11 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
12 thin upper lip vermilion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000219
13 deeply set eye 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000490
14 pes cavus 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001761
15 gynecomastia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000771
16 small hand 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200055
17 tapered finger 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001182
18 short foot 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001773
19 truncal obesity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001956
20 broad nasal tip 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000455
21 poor speech 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002465
22 malar prominence 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010620
23 hypogonadotropic hypogonadism 30 Frequent (33%) HP:0000044
24 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
25 specific learning disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001328
26 microcephaly 30 Very rare (1%) HP:0000252
27 absent speech 30 Very rare (1%) HP:0001344
28 obesity 30 Very rare (1%) HP:0001513
29 stuttering 30 Very rare (1%) HP:0025268
30 cataract 58 Excluded (0%)
31 hypogonadotrophic hypogonadism 58 Frequent (79-30%)
32 hypermetropia 58 Excluded (0%)
33 uplifted earlobe 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Feet:
pes planus
pes cavus
small feet

Growth Weight:
truncal obesity

Neurologic Central Nervous System:
mental retardation
delayed psychomotor development
seizures (rare)
poor or absent speech

Head And Neck Eyes:
heavy eyebrows

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypogonadism

Skeletal Hands:
tapering fingers

Clinical features from OMIM®:

309585 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.22 ACTB AIF1 CTNNB1 DLG4 DLGAP3 FMR1
2 growth/size/body region MP:0005378 10.13 ACTB AIF1 AMER1 CTNNB1 DLG4 FMR1
3 normal MP:0002873 10.06 ACTB CTNNB1 HDAC8 MYCN POU6F2 PVALB
4 renal/urinary system MP:0005367 10.02 AMER1 CTNNB1 GAPDH IGF2 MYCN PVALB
5 no phenotypic analysis MP:0003012 9.98 ACTB CTNNB1 IGF2 MYCN PVALB SIX2
6 cardiovascular system MP:0005385 9.93 ACTB AIF1 AMER1 CTNNB1 GAPDH HDAC8
7 craniofacial MP:0005382 9.8 AMER1 CTNNB1 HDAC8 IGF2 MYCN SIX1
8 behavior/neurological MP:0005386 9.73 ACTB CTNNB1 DLG4 DLGAP3 FMR1 IGF2
9 mortality/aging MP:0010768 9.47 ACTB AMER1 CTNNB1 DLG4 GAPDH HDAC8

Drugs & Therapeutics for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Search Clinical Trials, NIH Clinical Center for Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Genetic Tests for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Genetic tests related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type 28 LAS1L
2 Wilson-Turner Syndrome 28

Anatomical Context for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Organs/tissues related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type:

MalaCards : Eye, Brain
ODiseA: Brain

Publications for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Articles related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type:

# Title Authors PMID Year
1
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 57 5
25644381 2016
2
New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. 57 5
1746601 1991
3
New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. 57
1481864 1992
4
X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity--a new syndrome. 57
758423 1979
5
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene. 62
35627110 2022
6
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. 62
22889856 2012
7
Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585) 62
8826454 1996

Variations for Intellectual Developmental Disorder, X-Linked, Syndromic,...

ClinVar genetic disease variations for Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type:

5 (show top 50) (show all 66)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAS1L NM_031206.7(LAS1L):c.806C>G (p.Ala269Gly) SNV Pathogenic
253106 GRCh37: X:64749132-64749132
GRCh38: X:65529252-65529252
2 LAS1L NM_031206.7(LAS1L):c.1237G>A (p.Gly413Arg) SNV Likely Pathogenic
666263 rs1602612611 GRCh37: X:64743999-64743999
GRCh38: X:65524119-65524119
3 LAS1L NM_031206.7(LAS1L):c.1298C>T (p.Thr433Ile) SNV Uncertain Significance
1334035 GRCh37: X:64743938-64743938
GRCh38: X:65524058-65524058
4 LAS1L NM_031206.7(LAS1L):c.1270G>A (p.Val424Ile) SNV Uncertain Significance
1402133 GRCh37: X:64743966-64743966
GRCh38: X:65524086-65524086
5 LAS1L NM_031206.7(LAS1L):c.704G>A (p.Ser235Asn) SNV Uncertain Significance
1448734 GRCh37: X:64749569-64749569
GRCh38: X:65529689-65529689
6 overlap with 3 genes DUP Uncertain Significance
1679798 GRCh37:
GRCh38: X:65104915-65548999
7 LAS1L NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp) SNV Uncertain Significance
374326 rs1057518699 GRCh37: X:64743993-64743993
GRCh38: X:65524113-65524113
8 LAS1L NM_031206.7(LAS1L):c.2050C>T (p.Arg684Trp) SNV Uncertain Significance
464824 rs762602796 GRCh37: X:64734731-64734731
GRCh38: X:65514851-65514851
9 LAS1L NM_031206.7(LAS1L):c.940G>A (p.Val314Ile) SNV Uncertain Significance
533406 rs137948118 GRCh37: X:64748156-64748156
GRCh38: X:65528276-65528276
10 LAS1L NM_031206.7(LAS1L):c.1472G>A (p.Gly491Asp) SNV Uncertain Significance
533407 rs1556301877 GRCh37: X:64738322-64738322
GRCh38: X:65518442-65518442
11 LAS1L NM_031206.7(LAS1L):c.502G>A (p.Asp168Asn) SNV Uncertain Significance
573910 rs1569443405 GRCh37: X:64751249-64751249
GRCh38: X:65531369-65531369
12 LAS1L NM_031206.7(LAS1L):c.715G>T (p.Asp239Tyr) SNV Uncertain Significance
577687 rs750436732 GRCh37: X:64749558-64749558
GRCh38: X:65529678-65529678
13 LAS1L NM_031206.7(LAS1L):c.937G>A (p.Gly313Ser) SNV Uncertain Significance
579081 rs745313876 GRCh37: X:64748159-64748159
GRCh38: X:65528279-65528279
14 LAS1L NM_031206.7(LAS1L):c.1203G>T (p.Arg401Ser) SNV Uncertain Significance
580915 rs1569438242 GRCh37: X:64744033-64744033
GRCh38: X:65524153-65524153
15 LAS1L NM_031206.7(LAS1L):c.1705A>G (p.Lys569Glu) SNV Uncertain Significance
649903 rs1006077682 GRCh37: X:64738089-64738089
GRCh38: X:65518209-65518209
16 LAS1L NM_031206.7(LAS1L):c.1114G>C (p.Val372Leu) SNV Uncertain Significance
661084 rs186130633 GRCh37: X:64744122-64744122
GRCh38: X:65524242-65524242
17 LAS1L NM_031206.7(LAS1L):c.1570C>G (p.Pro524Ala) SNV Uncertain Significance
864372 rs2068725707 GRCh37: X:64738224-64738224
GRCh38: X:65518344-65518344
18 LAS1L NM_031206.7(LAS1L):c.754G>A (p.Val252Met) SNV Uncertain Significance
938360 rs762043715 GRCh37: X:64749519-64749519
GRCh38: X:65529639-65529639
19 LAS1L NM_031206.7(LAS1L):c.1483G>A (p.Glu495Lys) SNV Uncertain Significance
964726 rs762931496 GRCh37: X:64738311-64738311
GRCh38: X:65518431-65518431
20 LAS1L NM_031206.7(LAS1L):c.2051G>A (p.Arg684Gln) SNV Uncertain Significance
1005027 rs900809839 GRCh37: X:64734730-64734730
GRCh38: X:65514850-65514850
21 LAS1L NM_031206.7(LAS1L):c.948C>T (p.Cys316=) SNV Uncertain Significance
1021687 rs1410871672 GRCh37: X:64748148-64748148
GRCh38: X:65528268-65528268
22 LAS1L NM_031206.7(LAS1L):c.706A>G (p.Thr236Ala) SNV Uncertain Significance
1022624 rs2069367677 GRCh37: X:64749567-64749567
GRCh38: X:65529687-65529687
23 LAS1L NM_031206.7(LAS1L):c.1282G>A (p.Val428Met) SNV Uncertain Significance
1045920 rs1190754458 GRCh37: X:64743954-64743954
GRCh38: X:65524074-65524074
24 LAS1L NM_031206.7(LAS1L):c.1837A>G (p.Thr613Ala) SNV Uncertain Significance
1056523 GRCh37: X:64737957-64737957
GRCh38: X:65518077-65518077
25 LAS1L NM_031206.7(LAS1L):c.674A>G (p.Gln225Arg) SNV Uncertain Significance
1395058 GRCh37: X:64749599-64749599
GRCh38: X:65529719-65529719
26 LAS1L NM_031206.7(LAS1L):c.1889G>T (p.Arg630Ile) SNV Uncertain Significance
1402244 GRCh37: X:64737905-64737905
GRCh38: X:65518025-65518025
27 LAS1L NM_031206.7(LAS1L):c.222G>A (p.Thr74=) SNV Uncertain Significance
1367540 GRCh37: X:64754374-64754374
GRCh38: X:65534494-65534494
28 LAS1L NM_031206.7(LAS1L):c.320G>A (p.Gly107Asp) SNV Uncertain Significance
1193682 GRCh37: X:64753532-64753532
GRCh38: X:65533652-65533652
29 LAS1L NM_031206.7(LAS1L):c.1764AGAGGAGGA[1] (p.Glu591_Glu593del) MICROSAT Uncertain Significance
1701638 GRCh37: X:64738013-64738021
GRCh38: X:65518133-65518141
30 LAS1L NM_031206.7(LAS1L):c.515-6C>G SNV Uncertain Significance
1701765 GRCh37: X:64749764-64749764
GRCh38: X:65529884-65529884
31 LAS1L NM_031206.7(LAS1L):c.1735G>A (p.Val579Ile) SNV Uncertain Significance
464822 rs200862250 GRCh37: X:64738059-64738059
GRCh38: X:65518179-65518179
32 LAS1L NM_031206.7(LAS1L):c.1082C>G (p.Pro361Arg) SNV Uncertain Significance
464820 rs867562406 GRCh37: X:64744455-64744455
GRCh38: X:65524575-65524575
33 LAS1L NM_031206.7(LAS1L):c.663C>A (p.Asp221Glu) SNV Uncertain Significance
1699481 GRCh37: X:64749610-64749610
GRCh38: X:65529730-65529730
34 LAS1L NM_031206.7(LAS1L):c.1892G>C (p.Gly631Ala) SNV Uncertain Significance
464823 rs371394378 GRCh37: X:64737902-64737902
GRCh38: X:65518022-65518022
35 LAS1L NM_031206.7(LAS1L):c.1371C>T (p.Ser457=) SNV Likely Benign
464821 rs761061736 GRCh37: X:64743517-64743517
GRCh38: X:65523637-65523637
36 LAS1L NM_031206.7(LAS1L):c.21C>T (p.Ala7=) SNV Likely Benign
1548442 GRCh37: X:64754575-64754575
GRCh38: X:65534695-65534695
37 LAS1L NM_031206.7(LAS1L):c.2022T>C (p.Tyr674=) SNV Likely Benign
1661817 GRCh37: X:64734759-64734759
GRCh38: X:65514879-65514879
38 LAS1L NM_031206.7(LAS1L):c.837G>A (p.Glu279=) SNV Likely Benign
1567027 GRCh37: X:64749101-64749101
GRCh38: X:65529221-65529221
39 LAS1L NM_031206.7(LAS1L):c.1860C>T (p.Ala620=) SNV Likely Benign
1572603 GRCh37: X:64737934-64737934
GRCh38: X:65518054-65518054
40 LAS1L NM_031206.7(LAS1L):c.99G>C (p.Ser33=) SNV Likely Benign
464826 rs779407196 GRCh37: X:64754497-64754497
GRCh38: X:65534617-65534617
41 LAS1L NM_031206.7(LAS1L):c.1806G>A (p.Glu602=) SNV Likely Benign
1582618 GRCh37: X:64737988-64737988
GRCh38: X:65518108-65518108
42 LAS1L NM_031206.7(LAS1L):c.204C>T (p.Tyr68=) SNV Likely Benign
1585672 GRCh37: X:64754392-64754392
GRCh38: X:65534512-65534512
43 LAS1L NM_031206.7(LAS1L):c.594G>A (p.Glu198=) SNV Likely Benign
1593892 GRCh37: X:64749679-64749679
GRCh38: X:65529799-65529799
44 LAS1L NM_031206.7(LAS1L):c.1449-15C>T SNV Likely Benign
1628837 GRCh37: X:64738360-64738360
GRCh38: X:65518480-65518480
45 LAS1L NM_031206.7(LAS1L):c.132C>T (p.Ala44=) SNV Likely Benign
1639304 GRCh37: X:64754464-64754464
GRCh38: X:65534584-65534584
46 LAS1L NM_031206.7(LAS1L):c.1042+11G>T SNV Likely Benign
1644028 GRCh37: X:64744834-64744834
GRCh38: X:65524954-65524954
47 LAS1L NM_031206.7(LAS1L):c.186C>T (p.Asp62=) SNV Likely Benign
1092408 GRCh37: X:64754410-64754410
GRCh38: X:65534530-65534530
48 LAS1L NM_031206.7(LAS1L):c.1392G>A (p.Arg464=) SNV Likely Benign
1112575 GRCh37: X:64743496-64743496
GRCh38: X:65523616-65523616
49 LAS1L NM_031206.7(LAS1L):c.1770G>A (p.Glu590=) SNV Likely Benign
1114588 GRCh37: X:64738024-64738024
GRCh38: X:65518144-65518144
50 LAS1L NM_031206.7(LAS1L):c.5C>T (p.Ser2Leu) SNV Likely Benign
704102 rs148048579 GRCh37: X:64754591-64754591
GRCh38: X:65534711-65534711

Expression for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Search GEO for disease gene expression data for Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type.

Pathways for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Pathways related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.44 MYCN IGF2 DLG4 CTNNB1 ACTB
2
Show member pathways
12.34 HDAC8 GAPDH DLG4 CTNNB1 ACTB
3 11.89 RBFOX3 MYCN GAPDH FMR1 DLG4
4
Show member pathways
11.64 FMR1 DLGAP3 DLG4
5 10.98 WT1 SIX1 CTNNB1
6 10.58 WT1 SIX2 SIX1 MYCN

GO Terms for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Biological processes related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 branching involved in ureteric bud morphogenesis GO:0001658 9.63 WT1 SIX1 CTNNB1
2 positive regulation of myoblast proliferation GO:2000288 9.62 SIX1 CTNNB1
3 metanephric mesenchyme development GO:0072075 9.56 WT1 SIX1
4 mesenchymal cell differentiation involved in kidney development GO:0072161 9.26 SIX2 AMER1
5 kidney development GO:0001822 9.23 WT1 SIX2 SIX1 CTNNB1 AMER1

Sources for Intellectual Developmental Disorder, X-Linked, Syndromic,...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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