WHSUS
MCID: WHT019
MIFTS: 39

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 57 12 25 59 74 29 6 15 40 17
Whsus 57 12 25 74
Mrd37 57 12 25 74
Mental Retardation, Autosomal Dominant 37 57 25 74
Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome 59
Mental Retardation, Autosomal Dominant 37; Mrd37 57
Autosomal Dominant Mental Retardation 37 12

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:



External Ids:

Disease Ontology 12 DOID:0070067
MeSH 44 D008607
Orphanet 59 ORPHA468678

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. People with White-Sutton syndrome have delayed development, with speech and language usually being more delayed than motor skills such as walking. Intellectual disability can range from borderline normal to severe. Most people with White-Sutton syndrome have mild abnormalities of the head and face, which can include an unusually small head (microcephaly); a wide, short skull (brachycephaly); wide-set eyes (hypertelorism); a flat or sunken appearance of the middle of the face (midface hypoplasia); and a small mouth with a thin upper lip. A wide variety of additional signs and symptoms can occur with White-Sutton syndrome. Among the more common are hyperactivity; sleeping difficulties; vision defects, especially farsightedness; gastrointestinal problems; obesity; and short stature. Some individuals with White-Sutton syndrome are born with a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), which is called a diaphragmatic hernia.

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). Affiliated tissues include eye, heart and pons, and related phenotypes are abnormality of cardiovascular system morphology and abnormal heart morphology

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 : 74 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 : 75 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:

32 59 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
2 abnormal heart morphology 59 32 very rare (1%) Very rare (<4-1%) HP:0001627
3 short neck 59 32 Very rare (<4-1%) HP:0000470
4 high palate 59 32 Very rare (<4-1%) HP:0000218
5 intellectual disability 59 32 Very frequent (99-80%) HP:0001249
6 self-injurious behavior 59 32 Very rare (<4-1%) HP:0100716
7 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
8 depressed nasal bridge 59 32 Very rare (<4-1%) HP:0005280
9 microcephaly 59 32 Frequent (79-30%) HP:0000252
10 optic atrophy 59 32 Very rare (<4-1%) HP:0000648
11 short stature 59 32 Frequent (79-30%) HP:0004322
12 gastroesophageal reflux 59 32 Occasional (29-5%) HP:0002020
13 brachycephaly 59 32 Occasional (29-5%) HP:0000248
14 open mouth 59 32 Occasional (29-5%) HP:0000194
15 short philtrum 59 32 Very rare (<4-1%) HP:0000322
16 broad nasal tip 59 32 Very rare (<4-1%) HP:0000455
17 feeding difficulties 59 32 Frequent (79-30%) HP:0011968
18 strabismus 59 32 Occasional (29-5%) HP:0000486
19 myopia 59 32 Occasional (29-5%) HP:0000545
20 joint laxity 59 32 Very rare (<4-1%) HP:0001388
21 iris coloboma 59 32 Very rare (<4-1%) HP:0000612
22 downturned corners of mouth 59 32 Very rare (<4-1%) HP:0002714
23 pointed chin 59 32 Occasional (29-5%) HP:0000307
24 midface retrusion 59 32 Occasional (29-5%) HP:0011800
25 rod-cone dystrophy 59 32 Occasional (29-5%) HP:0000510
26 astigmatism 59 32 Occasional (29-5%) HP:0000483
27 hypoplasia of the corpus callosum 59 32 Very rare (<4-1%) HP:0002079
28 posteriorly rotated ears 59 32 Very rare (<4-1%) HP:0000358
29 hypermetropia 59 32 Frequent (79-30%) HP:0000540
30 abnormality of the outer ear 59 32 Occasional (29-5%) HP:0000356
31 facial hypotonia 59 32 Very rare (<4-1%) HP:0000297
32 malar flattening 59 Very rare (<4-1%)
33 hypertelorism 59 Frequent (79-30%)
34 low-set ears 32 HP:0000369
35 obesity 59 Frequent (79-30%)
36 seizures 59 Occasional (29-5%)
37 constipation 32 HP:0002019
38 eeg abnormality 59 Occasional (29-5%)
39 sleep disturbance 59 Frequent (79-30%)
40 inguinal hernia 59 Very rare (<4-1%)
41 mandibular prognathia 32 HP:0000303
42 behavioral abnormality 32 HP:0000708
43 delayed speech and language development 59 Frequent (79-30%)
44 abnormal facial shape 59 Frequent (79-30%)
45 sensorineural hearing impairment 59 Occasional (29-5%)
46 visual impairment 59 Frequent (79-30%)
47 blindness 59 Very rare (<4-1%)
48 abnormality of visual evoked potentials 32 HP:0000649
49 feeding difficulties in infancy 59 Frequent (79-30%)
50 stereotypy 59 Occasional (29-5%)

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
rod-cone dystrophy
astigmatism
more
Head And Neck Mouth:
open mouth
high-arched palate
downturned corners of the mouth

Head And Neck Nose:
broad nasal tip
flat nasal bridge

Skeletal Hands:
brachydactyly

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:
joint laxity

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

616364

MGI Mouse Phenotypes related to White-Sutton Syndrome:

46
# 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 29 POGZ

Anatomical Context for White-Sutton Syndrome

MalaCards organs/tissues related to White-Sutton Syndrome:

41
Eye, Heart, Pons

Publications for White-Sutton Syndrome

Articles related to White-Sutton Syndrome:

# Title Authors PMID Year
1
A novel de novo POGZ mutation in a patient with intellectual disability. 8 71
26763879 2016
2
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. 8 71
26942287 2016
3
POGZ truncating alleles cause syndromic intellectual disability. 8 71
26739615 2016
4
Large-scale discovery of novel genetic causes of developmental disorders. 8 71
25533962 2015
5
De novo mutations in schizophrenia implicate synaptic networks. 8
24463507 2014
6
Patterns and rates of exonic de novo mutations in autism spectrum disorders. 8
22495311 2012
7
De novo gene disruptions in children on the autistic spectrum. 8
22542183 2012
8
POGZ-related epilepsy: Case report and review of the literature. 38
31136090 2019
9
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. 38
27799067 2016

Variations for White-Sutton Syndrome

ClinVar genetic disease variations for White-Sutton Syndrome:

6 (show all 23)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POGZ NM_015100.4(POGZ): c.1810G> T (p.Glu604Ter) single nucleotide variant Pathogenic rs1135401798 1:151384217-151384217 1:151411741-151411741
2 POGZ NM_015100.4(POGZ): c.2646_2647del (p.Asn882fs) deletion Pathogenic rs1553213060 1:151378864-151378865 1:151406388-151406389
3 POGZ NM_015100.4(POGZ): c.3354del (p.Leu1119fs) deletion Pathogenic rs864321667 1:151378157-151378157 1:151405681-151405681
4 POGZ NM_015100.4(POGZ): c.2711T> A (p.Leu904Ter) single nucleotide variant Pathogenic rs864321668 1:151378800-151378800 1:151406324-151406324
5 POGZ NM_015100.4(POGZ): c.2935C> T (p.Arg979Ter) single nucleotide variant Pathogenic rs864321674 1:151378576-151378576 1:151406100-151406100
6 POGZ NM_015100.4(POGZ): c.2780dup (p.Leu927fs) duplication Pathogenic rs864321675 1:151378731-151378731 1:151406255-151406255
7 POGZ NM_015100.4(POGZ): c.2763dup (p.Thr922fs) duplication Pathogenic rs864321672 1:151378748-151378748 1:151406272-151406272
8 POGZ NM_015100.4(POGZ): c.2319_2320CT[1] (p.Ser774fs) short repeat Pathogenic rs864321671 1:151380627-151380630 1:151408151-151408154
9 POGZ NM_015100.4(POGZ): c.833C> G (p.Ser278Ter) single nucleotide variant Pathogenic rs864321673 1:151400625-151400625 1:151428149-151428149
10 POGZ NM_015100.4(POGZ): c.1277dup (p.Pro426_Glu427insTer) duplication Pathogenic rs869320763 1:151396671-151396671 1:151424195-151424195
11 POGZ NM_015100.4(POGZ): c.2590C> T (p.Arg864Ter) single nucleotide variant Pathogenic rs756659230 1:151378921-151378921 1:151406445-151406445
12 POGZ NM_015100.4(POGZ): c.3001C> T (p.Arg1001Ter) single nucleotide variant Pathogenic rs869312833 1:151378510-151378510 1:151406034-151406034
13 POGZ NM_015100.4(POGZ): c.3847C> T (p.Gln1283Ter) single nucleotide variant Pathogenic rs869312834 1:151377664-151377664 1:151405188-151405188
14 POGZ NM_015100.4(POGZ): c.3456_3457del (p.Glu1154fs) deletion Pathogenic rs869320764 1:151378054-151378055 1:151405578-151405579
15 POGZ NM_015100.4(POGZ): c.2806G> T (p.Gly936Ter) single nucleotide variant Pathogenic 1:151378705-151378705 1:151406229-151406229
16 POGZ NM_015100.4(POGZ): c.1863C> A (p.Cys621Ter) single nucleotide variant Likely pathogenic 1:151384164-151384164 1:151411688-151411688
17 POGZ NM_015100.4(POGZ): c.1727T> C (p.Leu576Pro) single nucleotide variant Likely pathogenic rs1057519392 1:151384824-151384824 1:151412348-151412348
18 POGZ NM_015100.4(POGZ): c.1748A> G (p.His583Arg) single nucleotide variant Likely pathogenic rs1131692270 1:151384803-151384803 1:151412327-151412327
19 POGZ NM_015100.4(POGZ): c.2604del (p.Asn869fs) deletion Likely pathogenic rs1553213126 1:151378907-151378907 1:151406431-151406431
20 POGZ NM_015100.4(POGZ): c.3206_3207del (p.Ser1068_Tyr1069insTer) deletion Likely pathogenic rs1553212374 1:151378304-151378305 1:151405828-151405829
21 POGZ NM_015100.4(POGZ): c.634G> A (p.Val212Met) single nucleotide variant Uncertain significance rs1553226286 1:151400824-151400824 1:151428348-151428348
22 POGZ NM_015100.4(POGZ): c.1866_1867dup (p.Tyr623fs) duplication Uncertain significance rs1553216467 1:151384159-151384160 1:151411683-151411684
23 POGZ NM_015100.4(POGZ): c.1426C> T (p.Arg476Trp) single nucleotide variant Uncertain significance rs267598016 1:151396522-151396522 1:151424046-151424046

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 ZEB2 POGZ MECP2 MAP2K2 KMT2D KDM5C
2 histone methyltransferase complex GO:0035097 8.8 POGZ KMT2D KDM5C

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 MECP2 KMT2D

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 ZEB2 POGZ MECP2 KMT2D KDM5C
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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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