WHSUS
MCID: WHT019
MIFTS: 37

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 56 12 25 58 73 29 6 15 39 17
Whsus 56 12 25 73
Mrd37 56 12 25 73
Mental Retardation, Autosomal Dominant 37 56 25 73
Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome 58
Mental Retardation, Autosomal Dominant 37; Mrd37 56
Autosomal Dominant Mental Retardation 37 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
white-sutton syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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 autism and alacrima, achalasia, and mental retardation syndrome. 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 global developmental delay and hypertelorism

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 : 56 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 : 73 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 : 74 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:

58 31 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
3 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
4 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
8 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
9 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
10 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
11 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
12 severe expressive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0006863
13 hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0000540
14 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
15 rod-cone dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000510
16 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
17 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
18 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
19 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
20 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
21 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
22 open mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000194
23 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
24 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
25 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
26 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
27 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
28 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
29 chronic constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0012450
30 pointed chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000307
31 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
32 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
33 malar flattening 58 31 very rare (1%) Very rare (<4-1%) HP:0000272
34 short neck 58 31 very rare (1%) Very rare (<4-1%) HP:0000470
35 high palate 58 31 very rare (1%) Very rare (<4-1%) HP:0000218
36 self-injurious behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0100716
37 depressed nasal bridge 58 31 very rare (1%) Very rare (<4-1%) HP:0005280
38 inguinal hernia 58 31 very rare (1%) Very rare (<4-1%) HP:0000023
39 cerebral cortical atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0002120
40 optic atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000648
41 blindness 58 31 very rare (1%) Very rare (<4-1%) HP:0000618
42 short philtrum 58 31 very rare (1%) Very rare (<4-1%) HP:0000322
43 broad nasal tip 58 31 very rare (1%) Very rare (<4-1%) HP:0000455
44 vitiligo 58 31 very rare (1%) Very rare (<4-1%) HP:0001045
45 joint laxity 58 31 very rare (1%) Very rare (<4-1%) HP:0001388
46 posteriorly rotated ears 58 31 very rare (1%) Very rare (<4-1%) HP:0000358
47 downturned corners of mouth 58 31 very rare (1%) Very rare (<4-1%) HP:0002714
48 obsessive-compulsive behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0000722
49 hypoplasia of the pons 58 31 very rare (1%) Very rare (<4-1%) HP:0012110
50 focal impaired awareness seizure 58 31 very rare (1%) Very rare (<4-1%) HP:0002384

Symptoms via clinical synopsis from OMIM:

56
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

Growth Height:
short stature

Head And Neck Head:
microcephaly
brachycephaly

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

Cardiovascular Heart:
congenital heart defects (1 patient)

Head And Neck Neck:
short neck

Abdomen Gastrointestinal:
constipation
feeding difficulties
gastroesophageal reflux

Skeletal Hands:
brachydactyly

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

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

616364

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:

40
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. 56 6
26763879 2016
2
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. 56 6
26942287 2016
3
POGZ truncating alleles cause syndromic intellectual disability. 56 6
26739615 2016
4
Large-scale discovery of novel genetic causes of developmental disorders. 56 6
25533962 2015
5
De novo mutations in schizophrenia implicate synaptic networks. 56
24463507 2014
6
Patterns and rates of exonic de novo mutations in autism spectrum disorders. 56
22495311 2012
7
De novo gene disruptions in children on the autistic spectrum. 56
22542183 2012
8
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). 61
31782611 2020
9
POGZ-related epilepsy: Case report and review of the literature. 61
31136090 2019
10
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. 61
27799067 2016

Variations for White-Sutton Syndrome

ClinVar genetic disease variations for White-Sutton Syndrome:

6 (show all 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POGZ NM_015100.4(POGZ):c.3354del (p.Leu1119fs)deletion Pathogenic 190307 rs864321667 1:151378157-151378157 1:151405681-151405681
2 POGZ NM_015100.4(POGZ):c.2711T>A (p.Leu904Ter)SNV Pathogenic 190308 rs864321668 1:151378800-151378800 1:151406324-151406324
3 POGZ NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter)SNV Pathogenic 218149 rs864321674 1:151378576-151378576 1:151406100-151406100
4 POGZ NM_015100.4(POGZ):c.2780dup (p.Leu927fs)duplication Pathogenic 218150 rs864321675 1:151378730-151378731 1:151406254-151406255
5 POGZ NM_015100.4(POGZ):c.2763dup (p.Thr922fs)duplication Pathogenic 218147 rs864321672 1:151378747-151378748 1:151406271-151406272
6 POGZ NM_015100.4(POGZ):c.2319_2320CT[1] (p.Ser774fs)short repeat Pathogenic 218146 rs864321671 1:151380627-151380630 1:151408151-151408154
7 POGZ NM_015100.4(POGZ):c.833C>G (p.Ser278Ter)SNV Pathogenic 218148 rs864321673 1:151400625-151400625 1:151428149-151428149
8 POGZ NM_015100.4(POGZ):c.1277dup (p.Pro426_Glu427insTer)duplication Pathogenic 224722 rs869320763 1:151396670-151396671 1:151424194-151424195
9 POGZ NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter)SNV Pathogenic 224723 rs756659230 1:151378921-151378921 1:151406445-151406445
10 POGZ NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter)SNV Pathogenic 224724 rs869312833 1:151378510-151378510 1:151406034-151406034
11 POGZ NM_015100.4(POGZ):c.3847C>T (p.Gln1283Ter)SNV Pathogenic 224725 rs869312834 1:151377664-151377664 1:151405188-151405188
12 POGZ NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)deletion Pathogenic 224726 rs869320764 1:151378054-151378055 1:151405578-151405579
13 POGZ NM_015100.4(POGZ):c.1810G>T (p.Glu604Ter)SNV Pathogenic 431126 rs1135401798 1:151384217-151384217 1:151411741-151411741
14 POGZ NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs)deletion Pathogenic 559853 rs1553213060 1:151378864-151378865 1:151406388-151406389
15 POGZ NM_015100.4(POGZ):c.2806G>T (p.Gly936Ter)SNV Pathogenic 620052 rs1557867134 1:151378705-151378705 1:151406229-151406229
16 POGZ NM_015100.4(POGZ):c.460-1G>ASNV Pathogenic 801545 1:151402188-151402188 1:151429712-151429712
17 POGZ NM_015100.4(POGZ):c.125-1G>TSNV Pathogenic 801546 1:151413563-151413563 1:151441087-151441087
18 POGZ NM_015100.4(POGZ):c.3206_3207del (p.Ser1068_Tyr1069insTer)deletion Likely pathogenic 559852 rs1553212374 1:151378304-151378305 1:151405828-151405829
19 POGZ NM_015100.4(POGZ):c.1863C>A (p.Cys621Ter)SNV Likely pathogenic 619983 rs1557878687 1:151384164-151384164 1:151411688-151411688
20 POGZ NM_015100.4(POGZ):c.2836del (p.Asp946fs)deletion Likely pathogenic 666305 1:151378675-151378675 1:151406199-151406199
21 POGZ NM_015100.4(POGZ):c.2545+1deldeletion Likely pathogenic 666302 1:151379386-151379386 1:151406910-151406910
22 POGZ NM_015100.4(POGZ):c.1524-3C>GSNV Likely pathogenic 666553 1:151396030-151396030 1:151423554-151423554
23 POGZ NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter)SNV Likely pathogenic 801544 1:151378087-151378087 1:151405611-151405611
24 POGZ NM_015100.4(POGZ):c.1727T>C (p.Leu576Pro)SNV Likely pathogenic 375571 rs1057519392 1:151384824-151384824 1:151412348-151412348
25 POGZ NM_015100.4(POGZ):c.1748A>G (p.His583Arg)SNV Likely pathogenic 430948 rs1131692270 1:151384803-151384803 1:151412327-151412327
26 POGZ NM_015100.4(POGZ):c.2604del (p.Asn869fs)deletion Likely pathogenic 436355 rs1553213126 1:151378907-151378907 1:151406431-151406431
27 POGZ NM_015100.4(POGZ):c.634G>A (p.Val212Met)SNV Uncertain significance 450471 rs1553226286 1:151400824-151400824 1:151428348-151428348
28 POGZ NM_015100.4(POGZ):c.1866_1867dup (p.Tyr623fs)duplication Uncertain significance 522891 rs1553216467 1:151384159-151384160 1:151411683-151411684
29 POGZ NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp)SNV Uncertain significance 73166 rs267598016 1:151396522-151396522 1:151424046-151424046
30 POGZ NM_015100.4(POGZ):c.2188_2190delinsAAA (p.Tyr730Lys)indel Uncertain significance 800774 1:151380929-151380931 1:151408453-151408455
31 POGZ NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg)SNV Benign/Likely benign 589186 rs145570114 1:151378722-151378722 1:151406246-151406246

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 histone methyltransferase complex GO:0035097 8.62 POGZ KDM4C

Sources for White-Sutton Syndrome

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11 DGIdb
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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