White-Sutton Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: WHT019 MIFTS: 24	White-Sutton Syndrome Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases
Genes Variations Tissues Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for White-Sutton Syndrome

MalaCards integrated aliases for White-Sutton Syndrome:

Name: White-Sutton Syndrome ⁵⁷ ¹² ²⁵ ⁷⁵ ²⁹ ⁶

Whsus ⁵⁷ ¹² ²⁵ ⁷⁵

Mrd37 ⁵⁷ ¹² ²⁵ ⁷⁵

Mental Retardation, Autosomal Dominant 37 ⁵⁷ ²⁵ ⁷⁵

Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome ⁵⁹

Mental Retardation, Autosomal Dominant 37; Mrd37 ⁵⁷

Autosomal Dominant Mental Retardation 37 ¹²

White-Sutton Syndrome ) ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
variable features
de novo mutations

HPO:

³²

white-sutton syndrome:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 616364

Disease Ontology ¹² DOID:0070067

Orphanet ⁵⁹ ORPHA468678

MedGen ⁴² C4225351 CN230318

MeSH ⁴⁴ D008607

SNOMED-CT via HPO ⁶⁹ 263681008 262016004 27272007 more

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Summaries for White-Sutton Syndrome

Genetics Home Reference : ²⁵ White-Sutton syndrome is a disorder that causes intellectual disability, specific facial features, and other signs and symptoms affecting various parts of the body. Most affected individuals have features of autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication problems, and repetitive behaviors. However, in White-Sutton syndrome these features can occur along with other characteristics that are unusual in people with ASD, such as an overly friendly demeanor.

MalaCards based summary : White-Sutton Syndrome, is also known as whsus. An important gene associated with White-Sutton Syndrome is POGZ (Pogo Transposable Element Derived With ZNF Domain). Affiliated tissues include heart, and related phenotypes are low-set ears and short neck

Disease Ontology : ¹² An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of POGZ on chromosome 1q21.3.

OMIM : ⁵⁷ White-Sutton syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and a characteristic constellation of dysmorphic facial features. Additional features may include hypotonia, sensorineural hearing impairment, visual defects, joint laxity, and gastrointestinal difficulties, such as poor feeding (summary by White et al., 2016). A significant number of patients have autism or autistic features (summary by Stessman et al., 2016). (616364)

UniProtKB/Swiss-Prot : ⁷⁵ White-Sutton syndrome: A mental retardation syndrome characterized by developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features. Variable features include short stature, microcephaly, strabismus and hearing loss.

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Related Diseases for White-Sutton Syndrome

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Symptoms & Phenotypes for White-Sutton Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Ears:
low-set ears
posteriorly rotated ears
sensorineural hearing loss (in some patients)

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
sleep difficulties

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
autistic features

Head And Neck Eyes:
optic atrophy
strabismus
myopia
astigmatism
rod-cone dystrophy
more

Head And Neck Face:
short philtrum
pointed chin
midface hypoplasia
prognathism
hypotonic facies
more

Skeletal Hands:
brachydactyly

Head And Neck Nose:
broad nasal tip
flat nasal bridge

Cardiovascular Heart:
congenital heart defects (1 patient)

Head And Neck Neck:
short neck

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
feeding difficulties

Head And Neck Head:
microcephaly
brachycephaly

Growth Height:
short stature

Head And Neck Mouth:
open mouth
high-arched palate
downturned corners of the mouth

Skeletal:
joint laxity

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

616364

Human phenotypes related to White-Sutton Syndrome:

³² (show all 42)

#	Description	HPO Frequency	HPO Source Accession
1	low-set ears ³²		HP:0000369
2	short neck ³²		HP:0000470
3	high palate ³²		HP:0000218
4	intellectual disability ³²		HP:0001249
5	constipation ³²		HP:0002019
6	self-injurious behavior ³²		HP:0100716
7	mandibular prognathia ³²		HP:0000303
8	behavioral abnormality ³²		HP:0000708
9	global developmental delay ³²		HP:0001263
10	depressed nasal bridge ³²		HP:0005280
11	microcephaly ³²		HP:0000252
12	optic atrophy ³²		HP:0000648
13	short stature ³²		HP:0004322
14	abnormality of visual evoked potentials ³²		HP:0000649
15	gastroesophageal reflux ³²		HP:0002020
16	brachycephaly ³²		HP:0000248
17	feeding difficulties ³²		HP:0011968
18	strabismus ³²		HP:0000486
19	abnormal electroretinogram ³²		HP:0000512
20	myopia ³²		HP:0000545
21	short philtrum ³²		HP:0000322
22	open mouth ³²		HP:0000194
23	brachydactyly ³²		HP:0001156
24	joint laxity ³²		HP:0001388
25	downturned corners of mouth ³²		HP:0002714
26	broad nasal tip ³²		HP:0000455
27	pointed chin ³²		HP:0000307
28	midface retrusion ³²		HP:0011800
29	iris coloboma ³²		HP:0000612
30	astigmatism ³²		HP:0000483
31	abnormality of cardiovascular system morphology ³²	occasional (7.5%)	HP:0030680
32	hypoplasia of the corpus callosum ³²		HP:0002079
33	rod-cone dystrophy ³²		HP:0000510
34	cerebral atrophy ³²		HP:0002059
35	generalized hypotonia ³²		HP:0001290
36	posteriorly rotated ears ³²		HP:0000358
37	hypoglycemic seizures ³²		HP:0002173
38	abnormality of the outer ear ³²		HP:0000356
39	cortical visual impairment ³²		HP:0100704
40	hypermetropia ³²		HP:0000540
41	bilateral sensorineural hearing impairment ³²		HP:0008619
42	facial hypotonia ³²		HP:0000297

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Drugs & Therapeutics for White-Sutton Syndrome

Search Clinical Trials , NIH Clinical Center for White-Sutton Syndrome

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Genetic Tests for White-Sutton Syndrome

Genetic tests related to White-Sutton Syndrome:

#	Genetic test	Affiliating Genes
1	White-Sutton Syndrome ²⁹	POGZ

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Anatomical Context for White-Sutton Syndrome

MalaCards organs/tissues related to White-Sutton Syndrome:

⁴¹

Heart

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Publications for White-Sutton Syndrome

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Genes for White-Sutton Syndrome

Genes related to White-Sutton Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	POGZ	Pogo Transposable Element Derived With ZNF Domain	Protein Coding	1378.61	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25533962 26739615 26942287 (more) 26763879

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Variations for White-Sutton Syndrome

ClinVar genetic disease variations for White-Sutton Syndrome:

⁶

(show all 36)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	POGZ	NM_015100.3(POGZ): c.3354delC (p.Leu1119Cysfs)	deletion	Pathogenic	rs864321667	GRCh37	Chromosome 1, 151378157: 151378157
2	POGZ	NM_015100.3(POGZ): c.3354delC (p.Leu1119Cysfs)	deletion	Pathogenic	rs864321667	GRCh38	Chromosome 1, 151405681: 151405681
3	POGZ	NM_015100.3(POGZ): c.2711T> A (p.Leu904Ter)	single nucleotide variant	Pathogenic	rs864321668	GRCh37	Chromosome 1, 151378800: 151378800
4	POGZ	NM_015100.3(POGZ): c.2711T> A (p.Leu904Ter)	single nucleotide variant	Pathogenic	rs864321668	GRCh38	Chromosome 1, 151406324: 151406324
5	POGZ	NM_015100.3(POGZ): c.2935C> T (p.Arg979Ter)	single nucleotide variant	Pathogenic	rs864321674	GRCh37	Chromosome 1, 151378576: 151378576
6	POGZ	NM_015100.3(POGZ): c.2935C> T (p.Arg979Ter)	single nucleotide variant	Pathogenic	rs864321674	GRCh38	Chromosome 1, 151406100: 151406100
7	POGZ	NM_015100.3(POGZ): c.2780dupT (p.Leu927Phefs)	duplication	Pathogenic	rs864321675	GRCh37	Chromosome 1, 151378731: 151378731
8	POGZ	NM_015100.3(POGZ): c.2780dupT (p.Leu927Phefs)	duplication	Pathogenic	rs864321675	GRCh38	Chromosome 1, 151406255: 151406255
9	POGZ	NM_015100.3(POGZ): c.2763dupC (p.Thr922Hisfs)	duplication	Pathogenic	rs864321672	GRCh37	Chromosome 1, 151378748: 151378748
10	POGZ	NM_015100.3(POGZ): c.2763dupC (p.Thr922Hisfs)	duplication	Pathogenic	rs864321672	GRCh38	Chromosome 1, 151406272: 151406272
11	POGZ	NM_015100.3(POGZ): c.2321_2324delCTCT (p.Ser774Cysfs)	deletion	Pathogenic	rs864321671	GRCh37	Chromosome 1, 151380627: 151380630
12	POGZ	NM_015100.3(POGZ): c.2321_2324delCTCT (p.Ser774Cysfs)	deletion	Pathogenic	rs864321671	GRCh38	Chromosome 1, 151408151: 151408154
13	POGZ	NM_015100.3(POGZ): c.833C> G (p.Ser278Ter)	single nucleotide variant	Pathogenic	rs864321673	GRCh37	Chromosome 1, 151400625: 151400625
14	POGZ	NM_015100.3(POGZ): c.833C> G (p.Ser278Ter)	single nucleotide variant	Pathogenic	rs864321673	GRCh38	Chromosome 1, 151428149: 151428149
15	POGZ	NM_015100.3(POGZ): c.1277dupC (p.Glu427Terfs)	duplication	Pathogenic	rs869320763	GRCh38	Chromosome 1, 151424195: 151424195
16	POGZ	NM_015100.3(POGZ): c.1277dupC (p.Glu427Terfs)	duplication	Pathogenic	rs869320763	GRCh37	Chromosome 1, 151396671: 151396671
17	POGZ	NM_015100.3(POGZ): c.2590C> T (p.Arg864Ter)	single nucleotide variant	Pathogenic	rs756659230	GRCh37	Chromosome 1, 151378921: 151378921
18	POGZ	NM_015100.3(POGZ): c.2590C> T (p.Arg864Ter)	single nucleotide variant	Pathogenic	rs756659230	GRCh38	Chromosome 1, 151406445: 151406445
19	POGZ	NM_015100.3(POGZ): c.3001C> T (p.Arg1001Ter)	single nucleotide variant	Pathogenic	rs869312833	GRCh37	Chromosome 1, 151378510: 151378510
20	POGZ	NM_015100.3(POGZ): c.3001C> T (p.Arg1001Ter)	single nucleotide variant	Pathogenic	rs869312833	GRCh38	Chromosome 1, 151406034: 151406034
21	POGZ	NM_015100.3(POGZ): c.3847C> T (p.Gln1283Ter)	single nucleotide variant	Pathogenic	rs869312834	GRCh37	Chromosome 1, 151377664: 151377664
22	POGZ	NM_015100.3(POGZ): c.3847C> T (p.Gln1283Ter)	single nucleotide variant	Pathogenic	rs869312834	GRCh38	Chromosome 1, 151405188: 151405188
23	POGZ	NM_015100.3(POGZ): c.3456_3457delAG (p.Glu1154Thrfs)	deletion	Pathogenic	rs869320764	GRCh38	Chromosome 1, 151405578: 151405579
24	POGZ	NM_015100.3(POGZ): c.3456_3457delAG (p.Glu1154Thrfs)	deletion	Pathogenic	rs869320764	GRCh37	Chromosome 1, 151378054: 151378055
25	POGZ	NM_015100.3(POGZ): c.1727T> C (p.Leu576Pro)	single nucleotide variant	Likely pathogenic	rs1057519392	GRCh38	Chromosome 1, 151412348: 151412348
26	POGZ	NM_015100.3(POGZ): c.1727T> C (p.Leu576Pro)	single nucleotide variant	Likely pathogenic	rs1057519392	GRCh37	Chromosome 1, 151384824: 151384824
27	POGZ	NM_015100.3(POGZ): c.1748A> G (p.His583Arg)	single nucleotide variant	Likely pathogenic	rs1131692270	GRCh37	Chromosome 1, 151384803: 151384803
28	POGZ	NM_015100.3(POGZ): c.1748A> G (p.His583Arg)	single nucleotide variant	Likely pathogenic	rs1131692270	GRCh38	Chromosome 1, 151412327: 151412327
29	POGZ	NM_015100.3(POGZ): c.1810G> T (p.Glu604Ter)	single nucleotide variant	Pathogenic	rs1135401798	GRCh38	Chromosome 1, 151411741: 151411741
30	POGZ	NM_015100.3(POGZ): c.1810G> T (p.Glu604Ter)	single nucleotide variant	Pathogenic	rs1135401798	GRCh37	Chromosome 1, 151384217: 151384217
31	POGZ	NM_015100.3(POGZ): c.2604delG (p.Asn869Thrfs)	deletion	Likely pathogenic		GRCh38	Chromosome 1, 151406431: 151406431
32	POGZ	NM_015100.3(POGZ): c.2604delG (p.Asn869Thrfs)	deletion	Likely pathogenic		GRCh37	Chromosome 1, 151378907: 151378907
33	POGZ	NM_015100.3(POGZ): c.2817_2830delTCTGAATGTTGATG (p.Cys939Terfs)	deletion	Pathogenic		GRCh37	Chromosome 1, 151378681: 151378694
34	POGZ	NM_015100.3(POGZ): c.2817_2830delTCTGAATGTTGATG (p.Cys939Terfs)	deletion	Pathogenic		GRCh38	Chromosome 1, 151406205: 151406218
35	POGZ	NM_015100.3(POGZ): c.1867_1868insTT (p.Tyr623Phefs)	insertion	Uncertain significance		GRCh38	Chromosome 1, 151411683: 151411684
36	POGZ	NM_015100.3(POGZ): c.1867_1868insTT (p.Tyr623Phefs)	insertion	Uncertain significance		GRCh37	Chromosome 1, 151384159: 151384160

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Expression for White-Sutton Syndrome

Search GEO for disease gene expression data for White-Sutton Syndrome.

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Pathways for White-Sutton Syndrome

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GO Terms for White-Sutton Syndrome

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Sources for White-Sutton Syndrome

¹ BioSystems

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

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³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

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⁵⁷ OMIM

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⁵⁹ Orphanet

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⁷¹ TGDB

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⁷⁶ Wikipedia