WHSUS
MCID: WHT019
MIFTS: 36

White-Sutton Syndrome (WHSUS)

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

Aliases & Classifications for White-Sutton Syndrome

MalaCards integrated aliases for White-Sutton Syndrome:

Name: White-Sutton Syndrome 58 12 26 76 30 6 15 17
Whsus 58 12 26 76
Mrd37 58 12 26 76
Mental Retardation, Autosomal Dominant 37 58 26 76
Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome 60
Mental Retardation, Autosomal Dominant 37; Mrd37 58
Autosomal Dominant Mental Retardation 37 12
White-Sutton Syndrome ) 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
white-sutton syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for White-Sutton Syndrome

Genetics Home Reference : 26 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, also known as whsus, is related to mental retardation and microcephaly with pontine and cerebellar hypoplasia and glycine encephalopathy. An important gene associated with White-Sutton Syndrome is POGZ (Pogo Transposable Element Derived With ZNF Domain). Related phenotypes are abnormality of cardiovascular system morphology and low-set ears

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 : 58 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 : 76 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.

Wikipedia : 77 White Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder that affects different systems of... more...

Related Diseases for White-Sutton Syndrome

Graphical network of the top 20 diseases related to White-Sutton Syndrome:



Diseases related to White-Sutton Syndrome

Symptoms & Phenotypes for White-Sutton Syndrome

Human phenotypes related to White-Sutton Syndrome:

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

Symptoms via clinical synopsis from OMIM:

58
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
rod-cone dystrophy
astigmatism
more
Skeletal:
joint laxity

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

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 Face:
short philtrum
pointed chin
midface hypoplasia
prognathism
hypotonic facies
more
Skeletal Hands:
brachydactyly

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

616364

MGI Mouse Phenotypes related to White-Sutton Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.72 GLDC KDM5C KMT2D MAP2K2 MECP2
2 craniofacial MP:0005382 9.65 GLDC KMT2D MAP2K2 MECP2 ZEB2
3 embryo MP:0005380 9.55 GLDC KDM5C KMT2D MECP2 ZEB2
4 growth/size/body region MP:0005378 9.43 GLDC KDM5C KMT2D MAP2K2 MECP2 ZEB2
5 nervous system MP:0003631 9.1 GLDC JAKMIP1 KDM5C KMT2D MECP2 ZEB2

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 30 POGZ

Anatomical Context for White-Sutton Syndrome

Publications for White-Sutton Syndrome

Articles related to White-Sutton Syndrome:

# Title Authors Year
1
POGZ truncating alleles cause syndromic intellectual disability. ( 26739615 )
2016
2
A novel de novo POGZ mutation in a patient with intellectual disability. ( 26763879 )
2016
3
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. ( 26942287 )
2016
4
Large-scale discovery of novel genetic causes of developmental disorders. ( 25533962 )
2015

Variations for White-Sutton Syndrome

ClinVar genetic disease variations for White-Sutton Syndrome:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 POGZ NM_015100.3(POGZ): c.2711T> A (p.Leu904Ter) single nucleotide variant Pathogenic rs864321668 GRCh38 Chromosome 1, 151406324: 151406324
2 POGZ NM_015100.3(POGZ): c.3354delC (p.Leu1119Cysfs) deletion Pathogenic rs864321667 GRCh37 Chromosome 1, 151378157: 151378157
3 POGZ NM_015100.3(POGZ): c.3354delC (p.Leu1119Cysfs) deletion Pathogenic rs864321667 GRCh38 Chromosome 1, 151405681: 151405681
4 POGZ NM_015100.3(POGZ): c.2711T> A (p.Leu904Ter) single nucleotide variant Pathogenic rs864321668 GRCh37 Chromosome 1, 151378800: 151378800
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.3456_3457delAG (p.Glu1154Thrfs) deletion Pathogenic rs869320764 GRCh37 Chromosome 1, 151378054: 151378055
16 POGZ NM_015100.3(POGZ): c.1277dupC (p.Glu427Terfs) duplication Pathogenic rs869320763 GRCh38 Chromosome 1, 151424195: 151424195
17 POGZ NM_015100.3(POGZ): c.1277dupC (p.Glu427Terfs) duplication Pathogenic rs869320763 GRCh37 Chromosome 1, 151396671: 151396671
18 POGZ NM_015100.3(POGZ): c.2590C> T (p.Arg864Ter) single nucleotide variant Pathogenic rs756659230 GRCh37 Chromosome 1, 151378921: 151378921
19 POGZ NM_015100.3(POGZ): c.2590C> T (p.Arg864Ter) single nucleotide variant Pathogenic rs756659230 GRCh38 Chromosome 1, 151406445: 151406445
20 POGZ NM_015100.3(POGZ): c.3001C> T (p.Arg1001Ter) single nucleotide variant Pathogenic rs869312833 GRCh37 Chromosome 1, 151378510: 151378510
21 POGZ NM_015100.3(POGZ): c.3001C> T (p.Arg1001Ter) single nucleotide variant Pathogenic rs869312833 GRCh38 Chromosome 1, 151406034: 151406034
22 POGZ NM_015100.3(POGZ): c.3847C> T (p.Gln1283Ter) single nucleotide variant Pathogenic rs869312834 GRCh37 Chromosome 1, 151377664: 151377664
23 POGZ NM_015100.3(POGZ): c.3847C> T (p.Gln1283Ter) single nucleotide variant Pathogenic rs869312834 GRCh38 Chromosome 1, 151405188: 151405188
24 POGZ NM_015100.3(POGZ): c.3456_3457delAG (p.Glu1154Thrfs) deletion Pathogenic rs869320764 GRCh38 Chromosome 1, 151405578: 151405579
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 rs1553213126 GRCh38 Chromosome 1, 151406431: 151406431
32 POGZ NM_015100.3(POGZ): c.2604delG (p.Asn869Thrfs) deletion Likely pathogenic rs1553213126 GRCh37 Chromosome 1, 151378907: 151378907
33 POGZ NM_015100.3(POGZ): c.634G> A (p.Val212Met) single nucleotide variant Uncertain significance rs1553226286 GRCh37 Chromosome 1, 151400824: 151400824
34 POGZ NM_015100.3(POGZ): c.634G> A (p.Val212Met) single nucleotide variant Uncertain significance rs1553226286 GRCh38 Chromosome 1, 151428348: 151428348
35 POGZ NM_015100.3(POGZ): c.1867_1868insTT (p.Tyr623Phefs) insertion Uncertain significance rs1553216467 GRCh38 Chromosome 1, 151411683: 151411684
36 POGZ NM_015100.3(POGZ): c.1867_1868insTT (p.Tyr623Phefs) insertion Uncertain significance rs1553216467 GRCh37 Chromosome 1, 151384159: 151384160
37 POGZ NM_015100.3(POGZ): c.3206_3207delAT (p.Tyr1069Terfs) deletion Likely pathogenic rs1553212374 GRCh38 Chromosome 1, 151405828: 151405829
38 POGZ NM_015100.3(POGZ): c.3206_3207delAT (p.Tyr1069Terfs) deletion Likely pathogenic rs1553212374 GRCh37 Chromosome 1, 151378304: 151378305
39 POGZ NM_015100.3(POGZ): c.2646_2647delCA (p.Asn882Lysfs) deletion Pathogenic rs1553213060 GRCh38 Chromosome 1, 151406388: 151406389
40 POGZ NM_015100.3(POGZ): c.2646_2647delCA (p.Asn882Lysfs) deletion Pathogenic rs1553213060 GRCh37 Chromosome 1, 151378864: 151378865
41 POGZ NM_015100.4(POGZ): c.2806G> T (p.Gly936Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 151406229: 151406229
42 POGZ NM_015100.4(POGZ): c.2806G> T (p.Gly936Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 151378705: 151378705
43 POGZ NM_015100.4(POGZ): c.1863C> A (p.Cys621Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 151411688: 151411688
44 POGZ NM_015100.4(POGZ): c.1863C> A (p.Cys621Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 151384164: 151384164

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

Cellular components related to White-Sutton Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.5 GLDC KDM5C KMT2D MAP2K2 MECP2 POGZ
2 histone methyltransferase complex GO:0035097 8.8 KDM5C KMT2D POGZ

Biological processes related to White-Sutton Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin silencing GO:0006342 8.62 KMT2D MECP2

Molecular functions related to White-Sutton Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.02 KDM5C KMT2D MECP2 POGZ ZEB2
2 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 8.65 ZEB2

Sources for White-Sutton Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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