Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Neuronal diseases Endocrine diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

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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...

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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:

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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

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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

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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

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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

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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	Hu H...Kalscheuer VM	25644381	2016
2	New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. ⁵⁷ ⁵	Wilson M...Turner G	1746601	1991
3	New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. ⁵⁷	Frezal J	1481864	1992
4	X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity--a new syndrome. ⁵⁷	Vasquez SB...Sotos JF	758423	1979
5	Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene. ⁶²	Stembalska A...Smigiel R	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	Harakalova M...Ploos van Amstel HK	22889856	2012
7	Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585) ⁶²	Gedeon A...Turner G	8826454	1996

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

Genes related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type (2 elite genes):

(show top 50) (show all 54)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LAS1L	LAS1 Like Ribosome Biogenesis Factor	Protein Coding	1388.68	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	1746601 25644381
2	HDAC8	Histone Deacetylase 8	Protein Coding	353.24	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	22889856
3	WT1	WT1 Transcription Factor	Protein Coding	7.04	DISEASES inferred ¹⁴
4	AMER1	APC Membrane Recruitment Protein 1	Protein Coding	6.85	DISEASES inferred ¹⁴
5	MIR483	MicroRNA 483	RNA Gene	6.42	DISEASES inferred ¹⁴ ¹⁴
6	SIX2	SIX Homeobox 2	Protein Coding	6.42	DISEASES inferred ¹⁴
7	SIX1	SIX Homeobox 1	Protein Coding	5.82	DISEASES inferred ¹⁴
8	DLG4	Discs Large MAGUK Scaffold Protein 4	Protein Coding	5.8	DISEASES inferred ¹⁴
9	IGF2	Insulin Like Growth Factor 2	Protein Coding	5.79	DISEASES inferred ¹⁴
10	DLGAP3	DLG Associated Protein 3	Protein Coding	5.66	DISEASES inferred ¹⁴
11	GAPDH	Glyceraldehyde-3-Phosphate Dehydrogenase	Protein Coding	5.63	DISEASES inferred ¹⁴
12	FMR1	Fragile X Messenger Ribonucleoprotein 1	Protein Coding	5.62	DISEASES inferred ¹⁴
13	CTNNB1	Catenin Beta 1	Protein Coding	5.4	DISEASES inferred ¹⁴
14	PVALB	Parvalbumin	Protein Coding	5.36	DISEASES inferred ¹⁴
15	AIF1	Allograft Inflammatory Factor 1	Protein Coding	5.36	DISEASES inferred ¹⁴
16	POU6F2	POU Class 6 Homeobox 2	Protein Coding	5.36	DISEASES inferred ¹⁴
17	TENM3	Teneurin Transmembrane Protein 3	Protein Coding	5.33	DISEASES inferred ¹⁴
18	ACTB	Actin Beta	Protein Coding	5.3	DISEASES inferred ¹⁴
19	RBFOX3	RNA Binding Fox-1 Homolog 3	Protein Coding	5.29	DISEASES inferred ¹⁴
20	MYCN	MYCN Proto-Oncogene, BHLH Transcription Factor	Protein Coding	5.2	DISEASES inferred ¹⁴
21	HTT	Huntingtin	Protein Coding	5.16	DISEASES inferred ¹⁴
22	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	5.15	DISEASES inferred ¹⁴
23	MAML2	Mastermind Like Transcriptional Coactivator 2	Protein Coding	5.13	DISEASES inferred ¹⁴
24	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	5.12	DISEASES inferred ¹⁴
25	ZNF728	Zinc Finger Protein 728	Protein Coding	5.11	DISEASES inferred ¹⁴
26	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	5.11	DISEASES inferred ¹⁴
27	EFNA2	Ephrin A2	Protein Coding	5.11	DISEASES inferred ¹⁴
28	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	5.1	DISEASES inferred ¹⁴
29	PPP1R1B	Protein Phosphatase 1 Regulatory Inhibitor Subunit 1B	Protein Coding	5.1	DISEASES inferred ¹⁴
30	SHANK2	SH3 And Multiple Ankyrin Repeat Domains 2	Protein Coding	5.08	DISEASES inferred ¹⁴
31	GFAP	Glial Fibrillary Acidic Protein	Protein Coding	5.05	DISEASES inferred ¹⁴
32	GAD1	Glutamate Decarboxylase 1	Protein Coding	5	DISEASES inferred ¹⁴
33	GRIA1	Glutamate Ionotropic Receptor AMPA Type Subunit 1	Protein Coding	4.99	DISEASES inferred ¹⁴
34	DIS3L2	DIS3 Like 3'-5' Exoribonuclease 2	Protein Coding	4.97	DISEASES inferred ¹⁴
35	DROSHA	Drosha Ribonuclease III	Protein Coding	4.93	DISEASES inferred ¹⁴
36	TP53	Tumor Protein P53	Protein Coding	4.9	DISEASES inferred ¹⁴
37	PAX2	Paired Box 2	Protein Coding	4.89	DISEASES inferred ¹⁴
38	ZNF346	Zinc Finger Protein 346	Protein Coding	4.89	DISEASES inferred ¹⁴
39	GLIPR1	GLI Pathogenesis Related 1	Protein Coding	4.89	DISEASES inferred ¹⁴
40	SLC17A7	Solute Carrier Family 17 Member 7	Protein Coding	4.88	DISEASES inferred ¹⁴
41	AP1G1	Adaptor Related Protein Complex 1 Subunit Gamma 1	Protein Coding	4.87	DISEASES inferred ¹⁴
42	CITED1	Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 1	Protein Coding	4.87	DISEASES inferred ¹⁴
43	SLC32A1	Solute Carrier Family 32 Member 1	Protein Coding	4.86	DISEASES inferred ¹⁴
44	SLC17A6	Solute Carrier Family 17 Member 6	Protein Coding	4.86	DISEASES inferred ¹⁴
45	IL1B	Interleukin 1 Beta	Protein Coding	4.84	DISEASES inferred ¹⁴
46	ITGAM	Integrin Subunit Alpha M	Protein Coding	4.84	DISEASES inferred ¹⁴
47	VIPR2	Vasoactive Intestinal Peptide Receptor 2	Protein Coding	4.84	DISEASES inferred ¹⁴
48	ZNF780A	Zinc Finger Protein 780A	Protein Coding	4.82	DISEASES inferred ¹⁴
49	ALB	Albumin	Protein Coding	4.79	DISEASES inferred ¹⁴
50	ZBED10P	Zinc Finger BED-Type Containing 10, Pseudogene	Pseudogene	4.77	DISEASES inferred ¹⁴

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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

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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.

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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	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.44	MYCN IGF2 DLG4 CTNNB1 ACTB
2	fMLP Pathway ⁶⁴ Show member pathways CXCR4 Pathway ⁶⁴ Huntington's Disease Pathway ⁶⁴ Internalin Pathway ⁶⁴ Signal transduction Activation of PKC via G-Protein coupled receptor ²²	12.34	HDAC8 GAPDH DLG4 CTNNB1 ACTB
3	Neuroscience ³	11.89	RBFOX3 MYCN GAPDH FMR1 DLG4
4	Fragile X syndrome ⁷⁴ Show member pathways Pilocytic astrocytoma ⁷⁴	11.64	FMR1 DLGAP3 DLG4
5	Genes controlling nephrogenesis ⁷⁴	10.98	WT1 SIX1 CTNNB1
6	Development of ureteric collection system ⁷⁴	10.58	WT1 SIX2 SIX1 MYCN

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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

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

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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

Aliases & Classifications for Intellectual Developmental Disorder, X-Linked, Syndromic,...

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

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

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:

Graphical network of the top 20 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:

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

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:

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:

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