MCID: WHT019
MIFTS: 24

White-Sutton Syndrome

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases

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:



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.

Related Diseases for White-Sutton Syndrome

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

Drugs & Therapeutics for White-Sutton Syndrome

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

Genetic Tests for White-Sutton Syndrome

Genetic tests related to White-Sutton Syndrome:

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

Anatomical Context for White-Sutton Syndrome

MalaCards organs/tissues related to White-Sutton Syndrome:

41
Heart

Publications for White-Sutton Syndrome

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

Expression for White-Sutton Syndrome

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

Pathways for White-Sutton Syndrome

GO Terms for White-Sutton Syndrome

Sources for White-Sutton Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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